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02/09/10 Anna-Kaisa Niemi

NODAL in human congenital heart defects, heterotaxy & holoprosencephaly

  • Roessler E et al. Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly. Mol Genet Metab. 2009 Sep-Oct;98(1-2):225-34. Epub 2009 May 27.
2/2/10 Hua Tang

Discovery of Rare Variants via Sequencing: from Mendelian Disorder to Complex Traits

  • Ng SB et al. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2010 Jan;42(1):30-5.
  • Li B & Leal SM. Discovery of rare variants via sequencing: implications for the design of complex trait association studies. PLoS Genet. 2009 May;5(5):e1000481. Epub 2009 May 15.
1/26/10 Jason Merker

Massively parallel sequencing in genetic medicine

  • Ng SB et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature. 2009;461:272-6.
  • Tucker T et al. Massively parallel sequencing: the next big thing in genetic medicine. Am J Hum Genet. 2009;85:142-54.
1/19/10 Greg Enns

Parkinson disease: genetics meets the environment

  • Elstner M et al. Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene. Ann Neurol. 2009 Dec;66(6):792-8
  • Morais VA et al. Parkinson's disease mutations in PINK1 result in decreased Complex I activity and deficient synaptic function. EMBO Mol Med. 2009 May;1(2):99-111.
1/12/10 Olivera Mitrasinovich

APOE e4: From Clinical Pharmacogenomics, to Ethics of Genetics Testing.

  • Green RC et al. Disclosure of APOE genotype for risk of Alzheimer's disease. Reveal Study Group. NEJM 2009 July 16;361(3):245-54
  • Caselli RJ et al. Longitudinal modeling of age-related memory decline and the APOE epsilon4 effect. NEJM 2009 July 16;361(3):255-263
1/5/10 Melissa Mills

The impact of fragile X repeat size on ovarian function

  • Bretherick KL et al. FMR1 repeat sizes in the fray zone and high end of the normal range are associated with premature ovarian failure. Hum Genet 2005 Aug; 117(4):376-82.
  • Gleicher N et al. Relevance of triple CGG repeats in the FMR1 gene to ovarian reserve. Reprod Biomed Online 2009; 19:385-390.
  • Sullivan AK et al. Association of FMR1 repeat size with ovarian dysfunction. Hum Reprod 2005; 20:402-412.
12/15/09 Dimple Sureka canceled: will reschedule in 2010
12/08/09 Ellyn Farrelly

How best to deliver the news: diagnosis of Down syndrome

  • Skotko BG et al. Prenatal diagnosis of Down syndrome: how best to deliver the news. Am J Med Genet A. 2009 Nov;149A(11):2361-2367.
  • Skotko BG et al. Postnatal diagnosis of Down syndrome: synthesis of the evidence of how best to deliver the news. Pediatrics. 2009 Oct;124(4):e751-758.
12/01/09 Eric Muller

Newborn screening for Fragile X syndrome.

  • Coffee B et al. Incidence of Fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet. 2009 Oct;85(4):503-514
  • Fernandez-Carvajal I et al. Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in Spanish population, Journal of Molecular Diagnostics, 2009 Jul;11(4):324-329
11/24/09 No talk No talk: Thanksgiving break
11/17/09 Diana Darcy

Ichthyosis: Not just for boys (or: why is my baby wrapped in cellophane?)

  • Farasat S et al. Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. 2009 Journal of Medical Genetics 46:103-111.
11/10/09 Neda Zadeh

FOXG1 and Rett-like syndrome

  • Ariani F et al. FOXG1 is responsible for the congenital variant of Rett syndrome. 2008 Am J Hum Genet 83:89-93.


11/03/09 Sarah Bannon

Think Zebras: Clinical heterogeneity in inclusion body myopathy with Paget's disease and frontotemporal dementia (IBMPFD)

  • van der Zee J, et al. Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His. 2009 Neurology 73:626-632
10/27/09 Jon Bernstein

One more and one less form of folinic acid responsive seizures

  • Gallagher RC et al. Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. Ann Neurol. 2009 May;65(5):550-6.
  • Steinfeld R et al. Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. Am J Hum Genet. 2009 Sep;85(3):354-63.
10/20/09 No Talk ASHG Meeting, Hawaii
10/13/09 Debbie Barragan

Cancer Therapy: Where has hedgehog taken us?

  • Dlugosz A & Talpaz M (2009). Following the Hedgehog to New Cancer Therapies New England Journal of Medicine, 361 (12), 1202-1205
  • Von Hoff D et al. (2009). Inhibition of the Hedgehog Pathway in Advanced Basal-Cell Carcinoma New England Journal of Medicine, 361 (12), 1164-1172
  • Rudin C et al. (2009). Treatment of Medulloblastoma with Hedgehog Pathway Inhibitor GDC-0449 New England Journal of Medicine, 361 (12), 1173-1178
10/06/09 Curt Scharfe

New Mitochondrial Disease Genes continue to trickle in

  • Reversade B et al. Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet. 2009 Sep;41(9):1016-21. Epub 2009 Aug 2.
  • Hao HX et al. SDH5, a gene required for flavination of succinate dehydrogenase,  is mutated in paraganglioma. Science. 2009 Aug 28;325(5944):1139-42. Epub 2009 Jul 23.
09/29/09 Tereza Moore

Glutaric Acidemia Type 1: Tackling disease at the protein level

  • Keyser B et al. Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). Hum Mol Genet. 2008 Dec 15;17(24):3854-63. Epub 2008 Sep 5.

Tena Cherry

(season opener)

Chromosomal Chaos in the Embryo

  • Vanneste E et al. Chromosome instability is common in human cleavage-stage embryos. Nat. Med. (2009) 15(5):577-583
06/23/09 Louanne Hudgins season finale

Is assisted reproductive technology associated with an increased risk for birth defects?

  • Reefhuis J, et al. Assisted reproductive technology and major structural birth defects in the United States. Human Reproduction 2009 24:360-366.
06/16/09 Melanie Manning

Mutations in CNNM4 = cone-rod dystrophy + amelogenesis imperfecta = Jalili Syndrome

  • Polok B et al. Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. Am J Hum Genet. 2009 Feb;84(2):259-65. Epub 2009 Feb 5.
  • Parry DA et al. Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. Am J Hum Genet. 2009 Feb;84(2):266-73. Epub 2009 Feb 5.
06/09/09 Tina Cowan

Cracking the mitochondrial bottleneck: cellular mechanisms and clinical implications

  • Wai T et al. The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes. 2008 Nat Genet. Dec;40(12):1484-8
06/02/09 Andy Beck

Learning from the cancer genome

  • Stratton MR et al. The cancer genome. Nature. 2009 Apr 9;458 (7239):719-24. Review.
  • Baudot A et al. From cancer genomes to cancer models: bridging the gaps. EMBO Rep. 2009 Apr;10(4):359-66.
  • Heng HH et al. Genetic and epigenetic heterogeneity in cancer: A genome-centric perspective. J Cell Physiol. 2009 May 13.
05/26/09 Uta Francke

Microdeletion 9q34: Multiple Mechanisms, a Phenotype and a Culprit Gene

  • Svetlana A et al. Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome. 2009. Human Molecular Genetics 18: 1924-1936
  • Kleefstra T et al. Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. 2006. Am. J. Hum. Genet. 79: 370-377
05/19/09 Lee Kozar

Recent advances in Whole Genome Association Studies and why they don't tell the full story

  • Hardy J & Singleton A. Genomewide association studies and human disease. N Engl J Med. 2009 Apr 23;360(17):1759-68. Epub 2009 Apr 15.
05/12/09 No Talk No Talk
05/05/09 No Talk No Talk
04/28/09 Michele Calos

The uses of fat: Adipose-derived stem cells for muscle repair

  • Vieira NM et al. Human multipotent adipose-derived stem cells restore dystrophin expression of Duchenne skeletal-muscle cells in vitro. Biol Cell. 2008 Apr;100(4):231-41.
  • Crisan M et al. A perivascular origin for mesenchymal stem cells in multiple human organs. Cell Stem Cell. 2008 Sep 11;3(3):301-13.
  • Vieira NM et al. SJL dystrophic mice express a significant amount of human muscle proteins following systemic delivery of human adipose-derived stromal cells without immunosuppression. Stem Cells. 2008 Sep;26(9):2391-8. Epub 2008 Jun 26.
04/21/09 Franklin Mullins

The TRPC6 channel and glomerular disease

  • Schlöndorff J, et al. TRPC6 mutations associated with focal segmental glomerulosclerosis cause constitutive activation of NFAT-dependent transcription. Am J Physiol Cell Physiol. 2009 Mar;296(3):C558-69.
  • Winn MP, et al. Unexpected role of TRPC6 channel in familial nephrotic syndrome: does it have clinical implications? J Am Soc Nephrol. 2006 Feb;17(2):378-87.
04/14/09 Hannes Vogel

More about mitochondria and Alzheimer disease

  • Du H et al. Cyclophilin D deficiency attenuates mitochondrial and neuronal perturbation and ameliorates learning and memory in Alzheimer's disease. Nat Med. 2008 Oct;14(10):1097-105. Epub 2008 Sep 21.
  • Starkov AA & Beal FM. Portal to Alzheimer's disease. Nat Med. 2008 Oct;14(10):1020-1.
04/07/09 no talk  
03/31/09 Anne Deucher

Genetic Mutations in AML: To Diagnosis, Prognosis and Beyond

  • Schlenk RF et al. Mutations and treatment outcome in cytogenetically normal acute myeloid leukemia. N Engl J Med. 2008 May 1;358(18):1909-18.
  • Bolli N et al. A dose-dependent tug of war involving the NPM1 leukaemic mutant, nucleophosmin, and ARF. Leukemia. 2009 Mar;23(3):501-9. Epub 2008 Nov 13.
  • Bacher U et al. Quantitative monitoring of NPM1 mutations provides a valid minimal residual disease parameter following allogeneic stem cell transplantation. Exp Hematol. 2009 Jan;37(1):135-42.
03/24/09 no talk no talk
03/17/09 Jonathan Pollack

Fusion genes in solid tumors: tip of the iceberg?

  • Maher CA et al. Transcriptome sequencing to detect gene fusions in cancer. Nature. 2009 Mar 5;458(7234):97-101. Epub 2009 Jan 11.
03/10/09 Hank Greely

Genetics and the Future of Human Reproduction: A Speculative Look at the Next Twenty Years

  • Fan HC et al. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A. 2008 Oct 21;105(42):16266-71. Epub 2008 Oct 6.
  • Gautam Naik, A Baby, Please. Blonde, Freckles - Hold the Colic, Wall St. J. (Feb. 12, 2009)
  • Sulem P et al. Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat Genet. 2007 Dec;39(12):1443-52. Epub 2007 Oct 21.
03/03/09 No Talk No Talk
02/24/09 Joachim Hallmayer

Deleted Genes - Deleted Mind

  • Need AC et al. A genome-wide investigation of SNPs and CNVs in
    schizophrenia. PLoS Genet. 2009 Feb;5(2):e1000373. Epub 2009 Feb 6.
  • Stefansson H et al. Large recurrent microdeletions associated with schizophrenia. Nature. 2008 Sep 11;455(7210):232-6.
  • International Schizophrenia Consortium. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature. 2008 Sep 11;455(7210):237-41.
  • Vrijenhoek T et al. Recurrent CNVs disrupt three candidate genes in schizophrenia patients. Am J Hum Genet. 2008 Oct;83(4):504-10.
02/17/09 no talk  
02/10/09 Kelly Ormond

The role religion plays in genetic services: Two examples

  • Geller G et al. The role and impact of personal faith and religion among genetic service providers. 2009. AJMG p31-40. Published Online: Jan 23 2009 9:50AM DOI: 10.1002/ajmg.c.30193
  • Anderson RR. Religious traditions and prenatal genetic counseling. 2009. AJMG p52-61. Published Online: Jan 23 2009 9:50AM DOI: 10.1002/ajmg.c.30203
02/03/09 Hua Tang

Genetic signature of human adaptation to environment

  • Perry GH et al. Diet and the evolution of human amylase gene copy number variation. 2007 Nature Genetics; 39:1256-1260
  • Hancock AM et al. Adaptations to Climate in Candidate Genes for Common Metabolic Disorders. 2008 PLoS Genetics 4(2): e32
01/27/09 Jason Merker

DNA sequencing of an AML genome

01/20/09 No Talk  
01/13/09 Sarah Dugan

Comparative genomic hybridization microarray analysis in neonates with birth defects

  • Lu XY et al. Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics. 2008 Dec;122(6):1310-8.
  • Erdogan F et al. High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease. J Med Genet. 2008 Nov;45(11):704-9. Epub 2008 Aug 19.
01/06/09 no talk no talk
12/16/08 Dimple Sureka

Personalised Medicine: PTC124 therapy for nonsense mutations in cystic fibrosis

  • Kerem E et al. Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial. Lancet. 2008 Aug 30;372(9640):719-27. Epub 2008 Aug 20.
12/9/08 Julie Kaplan

The Clinical and Genetic Overlap of CHARGE and Kallmann Syndromes

  • Kim HG et al. Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet. 2008 Oct;83(4):511-9. Epub 2008 Oct 2.
12/2/08 Neda Zadeh

Getting a clue about SPRED function

  • Brems H et al. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet. 2007 Sep;39(9):1120-6. Epub 2007 Aug 19.
11/25/08 Kristina Cusmano-Ozog

MMADHC and Cobalamin D disease

  • Coelho D et al. Gene identification for the cblD defect of vitamin B12 metabolism. N Engl J Med. 2008 Apr 3;358(14):1454-64.
11/18/08 Greg Enns

Lysine-tryptophan degradation and the Amish: a glimpse into a mechanism of brain degeneration

  • Sherman EA, et al. Genetic Mapping of Glutaric Aciduria, Type 3, to Chromosome 7 and Identification of Mutations in C7orf10. Am J Hum Genet. 2008 Oct 14. [Epub ahead of print]
  • Strauss KA, et al. Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency. Brain. 2007 Jul;130(Pt 7):1905-20. Epub 2007 May 3.
11/11/08   No talk. ASHG Meeting
11/04/08 Jon Bernstein

Big news about a small hindbrain: tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

  • Budde BS et al. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet. 2008 Aug 17. [Epub ahead of print]
10/28/08 Olivera Mitrasinovich

Debate on Pericentrin (PCNT) Mutations in Distinctive Mechanisms Associated with Primordial Dwarfism and Seckel Syndrome Phenotypes

  • Rauch A et al. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science. 2008 Feb 8;319(5864):816-9. Epub 2008 Jan 3.
  • Griffith E et al. Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nat Genet. 2008 Feb;40(2):232-6. Epub 2007 Dec 23.
10/21/08 Gilbert Chu

A propitious (apolitical) pairing: myelodysplastic syndrome and the ribosome

  • Ebert BL et al. Identification of RPS14 as a 5q- syndrome gene by RNA interference screen. Nature. 2008 Jan 17;451(7176):335-9.
10/14/08 Joseph Shieh
  • Inherited epigenetic disease?
  • Wagner KD et al. RNA induction and inheritance of epigenetic cardiac hypertrophy in the mouse. Dev Cell. 2008 Jun;14(6):962-9.
  • Rassoulzadegan M et al. RNA-mediated non-mendelian inheritance of an epigenetic change in the mouse. Nature. 2006 May 25;441(7092):469-74.
10/07/08 Curt Scharfe

OPA1 functions and diseases

  • Spinazzi M et al. A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function. Hum Mol Genet. 2008 Aug 4. [Epub ahead of print]
  • Hudson G et al. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain. 2008 Feb;131(Pt 2):329-37. Epub 2007 Dec 7.
9/30/08 Hugh Rienhoff

The Transcriptome: Phenomenology and Utility

  • Sultan M et al. A global view of gene activity and alternative splicing by deep sequencing of the human transcriptome. Science. 2008 Aug 15;321(5891):956-60. Epub 2008 Jul 3.
9/23/08 John Sotos

Abraham Lincoln: A Unifying New Diagnosis (first talk 08-09)

  • Sotos, JG  The Physical Lincoln: Finding the Genetic Cause of Abraham Lincoln’s Height, Homeliness, Pseudo-Depression, and Imminent Cancer Death. 2008. Publ. Mt.Vernon Book Systems.
6/24/08 Tina Cowan

There's more than one way to find a lysosome: Mannose-6-phosphate-independent lysosomal targeting of beta-glucocerebrosidase (final talk of 07-08)

  • Reczek D. et al. LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase.Cell. 2007 Nov 16;131(4):770-83
6/17/08 Lee Kozar

The Human Disease Network - The Diseasome (Six Degrees of Separation - the Pathology Version)

  • Goh KI et al. The human disease network. Proc Natl Acad Sci U S A. 2007 May 22;104(21):8685-90. Epub 2007 May 14.
6/10/08 Julie Kaplan

The Role of Epigenetics in Major Psychosis

  • Mill J et al. Epigenomic Profiling Reveals DNA-methylation Changes Associated with Major Psychosis. Am J Hum Genet. 2008 Mar;82(3):696-711.
6/03/08 Jon Bernstein

Less than identical MZ Twins: The Contribution of Copy Number Variation

  • Bruder CE et al. Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet. 2008 Mar;82(3):763-71. Epub 2008 Feb 14.
5/27/08 Jason Merker

JAK2V617F expression levels influence myeloproliferative disease phenotype

  • Tiedt R et al. Ratio of mutant JAK2-V617F to wild-type Jak2 determines the MPD phenotypes in transgenic mice. Blood. 2008 Apr 15;111(8):3931-40. Epub 2007 Dec 26.
  • Xing S et al. Transgenic expression of JAK2V617F causes myeloproliferative disorders in mice. Blood. 2008 May 15;111(10):5109-17. Epub 2008 Mar 11.
5/20/08 Laura Lazzeroni

Alzheimer's Disease: Moving Beyond APOE?

  • Waring SC et al. Genome-wide association studies in Alzheimer disease. Arch Neurol. 2008 Mar;65(3):329-34.
  • Reiman EM et al. GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers. Neuron. 2007 Jun 7;54(5):713-20.
  • Liu F et al. A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population. Am J Hum Genet. 2007 Jul;81(1):17-31. Epub 2007 May 29.
5/13/08 Jonathan Pollack

Explaining the Down syndrome - cancer connection

  • Sussan TE et al. Trisomy represses Apc(Min)-mediated tumours in mouse models of Down's syndrome. Nature. 2008 Jan 3;451(7174):73-5.
5/06/08 Hannes Vogel

Update on mitochondria and the fuss over fusion

  • Chen H et al. Mitochondrial fusion protects against neurodegeneration in the cerebellum. Cell. 2007 Aug 10;130(3):548-62.
  • Manfredi G & Beal MF. Merging mitochondria for neuronal survival. Nat Med. 2007 Oct;13(10):1140-1.
4/29/08 Tena Cherry

Microdeletion and Microduplication of 16p11.2 and Autism.

  • Weiss LA, et al Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008 Feb 14;358(7):667-75. Epub 2008 Jan 9.
4/22/08 Melanie Manning

Tipping the scales on apparently balanced chromosome rearrangements

  • Higgins AW et al. Characterization of apparently balanced chromosome rearrangements from the Developmental Genome Anatomy Project. Am J Hum Genet. 2008 Mar;82(3):712-22.
  • de Gregori M et al. Crytptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet. 2007 Dec;44(12):750-62. Epub 2007 Aug 31
04/15/08 Sophie Candille

Divide and conquer? European American population structure and implications for association studies.

  • Price AL et al. Discerning the ancestry of European Americans in genetic association studies. PLoS Genet. 2008 Jan;4(1):e236. Epub 2007 Nov 19.
  • Tian C et al. Analysis and application of European genetic substructure using 300 K SNP information. PLoS Genet. 2008 Jan;4(1):e4.
04/08/08 Oana Vele

Genetic advances in recurrent hydatidiform moles

  • Qian J, et al.Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations. Hum Mutat. 2007 Jul;28(7):741.
  • Djuric U, et al. Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation. Hum Genet. 2006 Oct;120(3):390-5. Epub 2006 Jul 28.
  • Murdoch S, et al. Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nat Genet. 2006 Mar;38(3):300-2. Epub 2006 Feb 5.
04/01/08 Hank Greely

Genomics and Genealogy, Ethnicity, and Nationality: An Uneasy Marriage

  • Bolnick DA et al. Genetics: The Science and Business of Genetic Ancestry Testing. Science. 2007 Oct 19;318 (5849): 399-400.
  • Li JZ et al. Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation. Science. 2008 Feb 22;319(5866):1100-4.
03/25/08 Hua Tang

The gold nuggets and gold dust in genome-wide association studies

  • Thomas G et al. Multiple loci identified in a genome-wide association study of prostate cancer. Nat Genet. 2008 Mar;40(3):310-5. Epub 2008 Feb 10.
  • Iles MM. What Can Genome-Wide Association Studies Tell Us about the Genetics of Common Disease. PLoS Genet 2008; 4(2): e33. doi: 10.1371/journal.pgen.0040033
03/18/08 Michele Calos

Skin cells to stem cells: How to reprogram adult cells

  • Aoi T, et al. Generation of pluripotent stem cells from adult mouse liver and stomach cells. Science. 2008 Feb 14 [Epub ahead of print].
  • Brambrink T, et al. Sequential expression of pluripotency markers during direct reprogramming of mouse somatic cells. Cell Stem Cell 2008, 2:151-159.
  • Stadtfeld M, et al. Defining molecular cornerstones during fibroblast to iPS cell reprogramming in mouse. Cell Stem Cell. 2008; 2(3):230-240.
03/11/08 Iris Schrijver

Premutation permutations: The changing face of Fragile X

  • Leehey MA et al. FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. Neurology. 2007 Dec 5; [Epub ahead of print]
  • Berry-Kravis E et al. Neuropathic features in fragile X premutation carriers. Am J Med Genet A. 2007 Jan 1;143(1):19-26.
03/04/08 Sarah Dugan 

Ethanol and the developing brain: Altered cell-cell adhesion as a mechanism for teratogenesis in fetal alcohol-spectrum disorders

  • Spadoni AD, et al. Neuroimaging and fetal alcohol spectrum disorders. Neurosci Biobehav Rev. 2007; 31(2):239-45. Epub 2006 Nov 9.
  • Arevalo E, et al. An alcohol binding site on the neural cell adhesion molecule L1. Proc Natl Acad Sci U S A. 2008 Jan 8;105(1):371-5. Epub 2007 Dec 28.
02/26/08 No Talk HGJC talk cancelled to enable attendance at the first Stanford Initiative in Human Genetics and Genomics (SIHGG) meeting, which will be held Tuesday, Feb 26th at 4:30 in the Clark Center "Nexus Cafe".
02/19/08 Joachim Hallmayer

Social UnContactin - CNTNAP2 and autism

  • Bakkaloglu B et al. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet. 2008 Jan;82(1):165-73.
  • Arking DE et al. A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am J Hum Genet. 2008 Jan;82 (1):160-4.
  • Alarcón M et al. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet. 2008 Jan;82(1):150-9.
  • Strauss KA et al. Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N Engl J Med. 2006 Mar 30;354(13):1370-7.
02/12/08 Franklin Mullins

Correction of Fragile X Syndrome in Mice

  • Dölen G et al. Correction of Fragile X Syndrome in Mice. Neuron. 2007 Dec 20;56(6):955-962.
02/05/08 Louanne Hudgins

Hedgehog signaling in cranial suture development and obesity: Lessons learned from a rare craniosynostosis disorder

  • Jenkins D et al. RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. Am J Hum Genet. 2007 Jun;80(6):1162-70. Epub 2007 Apr 18.
01/29/08 Hugh Rienhoff

Women Best Iron Men: Sexual Dimorphism in Penetrance

  • Allen KJ et al. Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med. 2008 Jan 17;358(3):221-30.
01/22/08 Bev Mitchell

Who is the driver and who is the passenger? Challenges in sequencing the cancer genome

  • Greenman C et al. Patterns of somatic mutation in human cancer genomes. Nature, 2007 Mar 8;446(7132): 153-158.
  • Frohling S et al. Identification of driver and passenger mutations of FLT3 by high-throughput DNA sequence analysis and functional assessment of candidate alleles. Cancer Cell. 2007 Dec;12(6): 501-513.
01/15/08 Kelly Ormond

Ready for prime time?  Population based screening for Hereditary Hemochromatosis

  • Wenzel LB et al. Health-related quality of life in a racially diverse population screened for hemochromatosis: results from the Hemochromatosis and Iron Overload Screening (HEIRS) study. Genet Med. 2007 Oct;9(10):705-12.
  • Walker AP et al.Results communication and patient education after screening for possible hemochromatosis and iron overload: experience from the HEIRS Study of a large ethnically and linguistically diverse group. Genet Med. 2007 Nov;9(11):778-91.
01/08/08 Hugh McDevitt

In type 1 diabetes, class1 comes into its own

  • Nejentsev S et al. Localization of type 1 diabetes susceptibility to the MHC class 1 genes HLA-B and HLA-A-A. 2007 Nature: 450(6), 887-892.
01/01/08 No Talk New Year's Day
12/25/07 No Talk Winter Break
12/18/07 Joseph Shieh

Genomic deletions and duplications: One disorder, two disorder, three disorders, four.

  • Turner DJ et al. Germline rates of de novo meiotic deletions and duplications causing several genomic disorders. Nat Genet 2007 Dec 2; [Epub ahead of print]
  • Lam KW & Jeffreys AJ. Processes of de novo duplication of human alpha-globin genes. PNAS 2007 104 (26): 10950-5. Epub 2007 Jun 15.
  • Lupski JR. Abstract. Genomic rearrangements and sporadic disease. Nat Genet. 2007; 39 (7 Suppl): S43-7. Review.
12/11/07 Greg Enns

Break on through to the other side: therapeutics that cross the blood-brain barrier

  • Urayama A et al. Epinephrine enhances lysosomal enzyme delivery across the blood brain barrier by up-regulation of the mannose 6-phosphate receptor. Proc Natl Acad Sci U S A. 2007 Jul 31;104(31):12873-8. Epub 2007 Jul 23.
  • Suzuki Y et al. Chemical chaperone therapy: clinical effect in murine G(M1)-gangliosidosis. Ann Neurol. 2007 Nov 9 [Epub ahead of print]
12/04/07 Kristina Cusmano-Ozog

Could a spoonful of sugar treat Gaucher disease?

  • Steet R et al. Selective action of the iminosugar isofagomine, a pharmacological chaperone for mutant forms of acid-beta-glucosidase. Biochem Pharmacol. 2007 May 1;73(9):1376-83.
  • Lieberman RL et al. Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease. Nat Chem Biol. 2007 Feb;3(2):101-7.
11/27/07 Darrell Wilson

Genetics & Phosphate

  • Lorenz-Depiereux B et al. Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Am J Hum Genet. 2006 Feb;78(2):193-201. Epub 2005 Dec 9.
11/20/07 Curt Scharfe

Drug-target and disease networks

  • Yldrm MA et al. Drug-target network. Nat Biotechnol. 2007 Oct;25(10):1119-1126.
11/13/07 No Talk No Talk
11/06/07 Jim Ford

Using Cancer Drugs to Treat Birth Defects: the case for RAS signaling pathways

  • Shukla V et al. RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis. Nat Genet. 2007 Sep;39(9):1145-50. Epub 2007 Aug 12.
  • Schubbert S et al. Hyperactive Ras in developmental disorders and cancer. Nat Rev Cancer. 2007 Apr;7(4):295-308.
10/30/07 Hugh Rienhoff

They Might be Giants: Treating Genetic Muscle Diseases

  • Lee SJ. Quadrupling muscle mass in mice by targeting TGF-beta signaling pathways.PLoS ONE. 2007 Aug 29;2(8):e789.
  • Cohn RD et al. Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states. Nat Med. 2007 Feb;13(2):204-10. Epub 2007 Jan 21.
10/23/07 No Talk ASHG Meeting 2007
10/16/07 Olivera Mitrasinovich

Global View on Vaccine Treatment for Alzheimer’s Disease

  • Solomon B Antibody-mediated immunotherapy for Alzheimer's disease. Curr Opin Investig Drugs. 2007 Jul;8(7):519-24.
  • Citron M et al. Excessive production of amyloid beta-protein by peripheral cells of symptomatic and presymptomatic patients carrying the Swedish familial Alzheimer disease mutation. Proc Natl Acad Sci U S A. 1994 Dec 6;91(25):11993-7.
  • Rakover I et al. Immunotherapy against APP beta-secretase cleavage site improves cognitive function and reduces neuroinflammation in Tg2576 mice without a significant effect on brain abeta levels. Neurodegener Dis. 2007;4(5):392-402. Epub 2007 May 25.
  • Chauhan NB & Siegel GJ Antisense inhibition at the beta-secretase-site of beta-amyloid precursor protein reduces cerebral amyloid and acetyl cholinesterase activity in Tg2576. Neuroscience. 2007 Apr 25;146(1):143-51. Epub 2007 Feb 14.
10/09/07 Uta Francke

MicroRNAs in brain and heart: New research focus in medical genetics

  • Kim J et al. A MicroRNA feedback circuit in midbrain dopamine neurons. Science. 2007 Aug 31;317(5842):1220-4.
  • Zhao Y et al. Dysregulation of cardiogenesis, cardiac conduction, and cell cycle in mice lacking miRNA-1-2. Cell. 2007 Apr 20;129(2):303-17. Epub 2007 Mar 29.
10/02/07 Feng Ding

Where to put epigenetic marks? Insights from sequence specificity of DNA methyltransferase complex and crosstalk to histone modification

  • Jia D et al. Structure of Dnmt3a bound to Dnmt3L suggests a model for de novo DNA methylation. Nature. 2007 Sep 13;449(7159):248-51. Epub 2007 Aug 22.
  • Ooi SK et al. DNMT3L connects unmethylated lysine 4 of histone H3 to de novo methylation of DNA. Nature. 2007 Aug 9;448(7154):714-7.
06/26/07 Girish Putcha

The Coming WGAS (Whole Genome Association Study) Flood: Lessons Learned and Recommendations from the NCI-NHGRI Working Group

  • Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature. 2007 Jun 7;447(7145):661-78.
  • NCI-NHGRI Working Group on Replication in Association Studies et al Replicating genotype-phenotype associations. Nature. 2007 Jun 7;447(7145):655-60.
06/19/07 Lee Kozar

What does Diabetes and Heart Disease Have in Common? Whole Genome Analysis Yields Surprising Results

  • Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, and Novartis Institutes of BioMedical Research, et al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science. 2007 Jun 1;316(5829):1331-6. Epub 2007 Apr 26.
  • Helgadottir A et al. A Common Variant on Chromosome 9p21 Affects the Risk of Myocardial Infarction. Science. 2007 May 3; [Epub ahead of print]
  • Steinthorsdottir V et al. A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nat Genet. 2007 Jun;39(6):770-5. Epub 2007 Apr 26.
06/12/07 Melanie Manning

Further insight into the genes involved with midline structure development.

  • Liu KJ at al. Chemical rescue of cleft palate and midline defects in conditional GSK-3B mice. Nature. 2007 Mar 1;446(7131):79-82. Epub 2007 Feb 11.
06/05/07 Chunyan Qu

Trio- and F-actin-binding protein (TRIOB) is associated with nonsyndromic recessive deafness

  • Riazuddin S et al. Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness. Am. J. Hum. Genet. 78(1):137-143, 2006. Epub 2005 Nov 21.
  • Shahin H et al. Mutations in a novel isoform of TRIOBP that encodes a filamentous-acting binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss. Am. J. Hum. Genet. 78:144-152, 2006. Epub 2005 Nov 21.
05/29/07 Swaroop Aradhya

17q21 deletion: A novel microdeletion syndrome associated with an inversion haplotype.

  • Koolen DA, et al. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet. 2006 Sep;38(9):999-1001.
  • Shaw-Smith C, et al. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet. 2006 Sep;38(9):1032-7.
  • Sharp AJ, et al. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet. 2006 Sep;38(9):1038-42.
05/22/07 No talk



05/15/07 Keyan Salari

Chips a small world: ethnic diversity in gene expression

  • Spielman RS et al. Common genetic variants account for differences in gene expression among ethnic groups. Nat Genet. 2007 Feb;39(2):226-31. Epub 2007 Jan 7
05/08/07 Tena Cherry

Aspartame: Too Sweet to be True or Cancer Risk?

  • Gallus, S et al. Artificial sweeteners and cancer risk in a network of case-control studies. Ann Oncol. 2007 Jan;18(1):40-4. Epub 2006 Oct 16.
  • Lim U et al. Consumption of aspartame-containing beverages and incidence of hematopoietic and brain malignancies. Cancer Epidemiol Biomarkers Prev. 2006 Sep;15(9):1654-9.
05/01/07 Gene Hoyme

NSD1 and overgrowth: A growing concern

  • Waggoner DJ, et al. NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. Genet Med. 2005 Oct;7(8):524-33.
  • van Haelst MM, et al. Familial gigantism caused by an NSD1 mutation. Am J Med Genet A. 2005 Nov 15;139(1):40-4.
  • Cecconi M, et al. Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. Am J Med Genet A. 2005 Apr 30;134(3):247-53.
  • Tatton-Brown K, et al. Childhood Overgrowth Collaboration. Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome. J Med Genet. 2005 Apr;42(4):307-13.
  • Tatton-Brown K, et al. Childhood Overgrowth Collaboration. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet. 2005 Aug;77(2):193-204.
04/24/07 Franklin Mullins

PALB2 and Breast Cancer

  • Tischkowitz M et al. Analysis of PALB2/FANCN-associated breast cancer families. Proc Natl Acad Sci U S A. 2007 Apr 9; [Epub ahead of print]
  • Erkko H et al. A recurrent mutation in PALB2 in Finnish cancer families. Nature. 2007 Mar 15;446(7133):316-9. Epub 2007 Feb 7.
  • Rahman N et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet. 2007 Feb;39(2):165-7. Epub 2006 Dec 31.
04/17/07 Greg Barsh

Genetics of size in dogs and their owners

  • Sutter NB et al. A single IGF1 allele is a major determinant of small size in dogs. Science. 2007 Apr 6;316(5821):112-115.
  • Frayling TM et al. A putative functional polymorphism in the IGF-I gene: association studies with type 2 diabetes, adult height, glucose tolerance, and fetal growth in U.K. populations. Diabetes. 2002 Jul;51(7):2313-6.
  • Arends N et al.Polymorphism in the IGF-I gene: clinical relevance for short children born small for gestational age (SGA). J Clin Endocrinol Metab. 2002 Jun;87(6):2720.
04/10/07 Hank Greely

Genetic Dicrimination Revisited

  • Kass NE, et al. Access to health insurance: Experiences and attitudes of those with genetic versus non-genetic medical conditions. Am J Med Genet A. 2007 Apr 1;143(7):707-17.
04/03/07 Joseph Shieh

X-linked mental retardation: Elucidating the etiology to FG syndrome

  • Risheg H, et al. A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet. 2007 Mar 4; [Epub ahead of print]
  • Schwartz CE, et al. The original Lujan Syndrome Family has a novel missense mutation (p.N1007S) in the MED12 gene. J Med Genet. 2007 Mar 16; [Epub ahead of print]
03/27/07 Joachim Hallmayer

Copy Number Variations - Adding Spice to the Human Genome

  • Sebat J et al. Strong Association of De Novo Copy Number Mutations with Autism. Science. 2007 Mar 15; [Epub ahead of print]
  • Stranger BE et al. Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science. 2007 Feb 9;315(5813):848-53.
  • Wong KK et al. A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet. 2007 Jan;80(1):91-104. Epub 2006 Dec 5.
03/20/07 Chunyan Qu

Mitochondrial Hearing Impairment

  • Tang X et al. Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation. Gene. 2007 Jan 24; [Epub ahead of print]
03/13/07 No talk No talk
03/06/07 Alessandra Splendore

A cure for Rett syndrome! (at least in mice)

  • Miller G. Medicine. Rett symptoms reversed in mice. Science. 2007 Feb 9;315(5813):749.
  • Guy J et al. Reversal of neurological defects in a mouse model of Rett syndrome. Science. 2007 Feb 23;315(5815):1143-7. Epub 2007 Feb 8.
  • Guy J et al. A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet. 2001 Mar;27(3):322-6.
02/27/07 Louanne Hudgins

Filamin A mutations: From skeletal dysplasia to perventricular heterotopia to cardiac valvular dystrophy

  • Kyndt F et al. Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy. Circulation. 2007 Jan 2;115(1):40-9. Epub 2006 Dec 26.
  • Feng Y et al. Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis. Proc Natl Acad Sci U S A. 2006 Dec 26;103(52):19836-41. Epub 2006 Dec 15.
  • Parrini A et al. Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. Brain. 2006 Jul;129(Pt 7):1892-906. Epub 2006 May 9.
  • Robertson SP et al. Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. Am J Med Genet A. 2006 Aug 15;140(16):1726-36.
02/20/07 Tina Cowan

Chemical chaperone therapy: New help for mutant lysosomal enzymes

  • Okumiya T et al. Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II. Mol Genet Metab. 2007 Jan;90(1):49-57. Epub 2006 Nov 13.
  • Suzuki Y. Beta-galactosidase deficiency: an approach to chaperone therapy. J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):471-6.
02/13/07 Bev Mitchell

JAK2 mutations in myeloproliferative diseases.

  • Scott LM et al. JAK2 exon 12 mutations in polycythemia vera and idopathic erythrocytosis. N Engl J Med. 2007 Feb 1;356(5): 459-468.


02/06/07 Michele Calos

Meso what? Can adult stem cells cure muscular dystrophy?

  • Sampaolesi M et al. Mesoangioblast stem cells ameliorate muscle function in dystrophic dogs. Nature, 2006 Nov 30; 444(7119):574-9. Epub 2006 Nov 15.
01/30/07 Agatino Battaglia

Special seminar by: Agatino Battaglia, MD, DPed, DNeurol. Stella Maris Scientific Research Institute Division of Child Neurology and Psychiatry,and Department Pediatrics, University of Pisa, Italy

Title: 1p36 Deletion Syndrome: Update on Clinical Phenotype and Molecular Pathogenesis

  • Battaglia A. Del 1p36 syndrome: a newly emerging clinical entity. Brain Dev. 2005 Aug;27(5):358-61.
  • D'Angelo CS et al. Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems. Eur J Med Genet. 2006 November - December;49(6):451-460. Epub 2006 Mar 10.
01/23/07 Tom Cushing

ARC syndrome (arthrogryposis, renal tubular dysfunction, and cholestasis): update on clinical-molecular correlation.

  • Gissen P, et al., Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome, Nat Genet. 2004 Apr;36(4):400-4.
01/16/07 Hugh McDevitt

AIRE--Thymic Expression of a single self antigen prevents organ specific autoimmunity

  • Devoss J, et al. Spontaneous autoimmunity prevented by thymic expression of a single self-antigen. J Exp Med. 2006 Nov 27;203(12):2727-35. Epub 2006 Nov 20.
01/09/07 Gregory M. Enns

Time to stop blaming everything on the mother: an update on nuclear mitochondrial defects

  • Valente, L et al. Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with Mutations of Mitochondrial Elongation Factors EFG1 and EFTu. Am J Hum Genet. 2007 Jan;80(1):44-58. Epub 2006 Nov 15.
  • Smeitink, JA et al. Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Am J Hum Genet. 2006 Nov; 79(5):869-77. Epub 2006 Sep 15.
12/12/06 Kristina Cusmano-Ozog

Ethnicity and MMA MUT mutations - Is there a correlation?

  • Sakamoto O et al. Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia. J Hum Genet. 2006 Oct 31.
  • Worgan LC et al. Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. Hum Mutat. 2006 Jan;27(1):31-43.
12/05/06 Curt Scharfe

A red wine ingredient and mitochondrial disease

  • Lagouge M et al. Resveratrol Improves Mitochondrial Function and Protects against Metabolic Disease by Activating SIRT1 and PGC-1alpha. Cell 2006 Dec 15; 127:1-14. link to article PDF at cell.com homepage.
  • Baur JA et al. Resveratrol improves health and survival of mice on a high-calorie diet. Nature. 2006 Nov 16;444(7117):337-342. Epub 2006 Nov 1.


11/28/06 Hugh Rienhoff

Beta males and alpha females: TGF-beta-opathies from the Marfan to Muscular Dystrophies?

  • Loeys et al. Aneurysm syndromes associated with mutations in the TGF-beta receptor genes. N Engl J Med. 2006 Aug 24;355(8):788-98.
11/21/06 Jon Bernstein

Congenital Disorders of Glycosylation - the answer to many questions

  • Foulquier F et al. Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.  Proc Natl Acad Sci U S A. 2006 Mar 7;103(10):3764-9

  • Lesnik Oberstein SA et al.  Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet. 2006 Sep;79(3):562-6. 

11/14/06 Maddy Martin

DHA and ARA in LCHAD, MMA and PKU: The Use of Long-Chain Polyunsaturated Fatty Acids in Patients with Inborn Errors of Metabolism

  • Gillingham MB et al. Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency. Mol Genetand Metab, 2005 Sep-Oct;86(1-2):124-33
  • Aldamiz-Echevarria L, et al. Effect of docosahexaenoic acid administration on plasma lipid profile and metabolic parameters of children with methylmalonic acidaemia. J Inherit Metab Dis. 2006 Feb;29(1):58-63
  • Agostoni C, et al. A randomized trial of long-chain polyunsaturated acid supplementation in infants with phenylketonuria. Dev Med Child Neurol. 2006 Mar;48(3):207-12
11/07/06 Jim Ford

How many mutations are in a tumor? Mapping the cancer genome

  • Sjoblom T et al. The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314 (5797): 268-74.
10/31/06 Uta Francke

Test your Own Genes at your Own Risk

  • Wolfberg AJ: Genes on the Web - Direct-to-Consumer Marketing of Genetic Testing. New Engl. J. Med 355: 543-545 (Aug. 16, 2006)
  • ASHG Draft Statement on DTC (Direct-to-Consumer) Genetic Testing (10/10/2006)
10/27/06 Roko Rasin, MD

Special Friday Seminar: Roko Rasin, Yale University

Building blocks of pyramidal neuron molecular identity and connectivity

Host: Uta Francke

10/24/06 Olivera M. Mitrasinovic

Diagnostic Distinctions in Hippocampal Amnesia: From Traditional Lab to Super Computers

  • Graham, KS et al.Abnormal categorization and perceptual learning in patients with hippocampal damage.J Neurosci. 2006 Jul 19;26(29):7547-54.
  • Mitrasinovic, O et al. On possible mechanisms for reactive oxygen species (ROS)-mediated cross-talk between NF-kB and JNK: A system biology view". GESTS International Transactions on Computer Science and Engineering, Vol. 27, No. 1, pp. 41-52, 2006 (copies of paper available at the talk).
  • Cole-Edwards, KK et al. c-Jun N-terminal kinase activation responses induced by hippocampal kindling are mediated by reactive astrocytes. J Neurosci. 2006 Aug 9;26(32):8295-304.
10/17/06 No Talk No talk scheduled
10/10/06 No Talk ASHG Meeting
10/03/06 Quasar Padiath

When 2 much is too little: Lamin B1 duplications cause demyelination in Autosomal dominant leukodystrophy (ADLD)

  • Padiath QS et al. Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat Genet. 2006 Sep 3; [Epub ahead of print]
09/26/06 Hannes Vogel

How tumors breathe. An update on mitochondria and cancer

  • Gottlieb E & Tomlinson IP. Mitochondrial tumour suppressors: a genetic and biochemical update. Nat Rev Cancer. 2005 Nov;5(11):857-66.
  • Kroemer G. Mitochondria in cancer. Oncogene. 2006 Aug 7;25(34):4630-2.
  • Matoba S et al. p53 regulates mitochondrial respiration. Science. 2006 Jun 16;312 (5780):1650-3. Epub 2006 May 25.
09/19/06 Feng Ding

Nuclear centers: Cajal body and Nucleolar RNA processing center for siRNA-directed chromatin modification in Arabidopsis

  • Pontes O et al. The Arabidopsis chromatin-modifying nuclear siRNA pathway involves a nucleolar RNA processing center. Cell. 2006 Jul 14;126(1):79-92.
  • Li CF et al. An ARGONAUTE4-containing nuclear processing center colocalized with Cajal bodies in Arabidopsis thaliana. Cell. 2006 Jul 14;126(1):93-106.
09/12/06 Russ Altman

The PharmGKB: catalyzing discovery in pharmacogenomics

  • Hernandez-Boussard T, et al. Pharmacogenomics: The relevance of emerging genotyping technologies. MLO Med Lab Obs. 2006 Mar;38(3):24, 26-30.
  • Thorn CF, et al. PharmGKB: the pharmacogenetics and pharmacogenomics knowledge base. Methods Mol Biol. 2005;311:179-91.
06/27/06 Darrell Wilson Is Short Stature a Disease?
06/20/06 No talk
  • Rainbow LA et al. Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia. Clin Endocrinol (Oxf). 2005 Feb;62(2):163-8.
06/13/06 Melanie Manning

It's all in the face; utilizing three-dimensional imaging in the diagnosis of genetic syndromes.

  • Hammond P et al. Discriminating power of localized three-dimensional facial morphology. Am J Hum Genet. 2005 Dec;77(6):999-1010. Epub 2005 Oct 26.
06/06/06 No talk  


No talk  
05/23/06 Lee Kozar

ACVR1 and fibrodysplasia ossificans progressiva

  • Shore EM et al. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet. 2006 May;38(5):525-527. Epub 2006 Apr 23.
05/16/06 Jonathan Pollack

Functional genomics becomes functional: RNAi screens and cancer

  • Ngo VN et al. A loss-of-function RNA interference screen for molecular targets in cancer. Nature. 2006 May 4;441(7089):106-10. Epub 2006 Mar


Iris Schrijver

TRPA1: the changing face of the "holy grail" of hearing loss

  • Corey DP et al. TRPA1 is a candidate for the mechanosensitive transduction channel of vertebrate hair cells. Nature. 2004 Dec 9;432(7018):723-30. Epub 2004 Oct 13.
  • Kwan KY et al. TRPA1 Contributes to Cold, Mechanical, and Chemical Nociception but Is Not Essential for Hair-Cell Transduction. Neuron. 2006 Apr 20;50(2):277-89.
  • Bautista DM et al. TRPA1 mediates the inflammatory actions of environmental irritants and proalgesic agents. Cell. 2006 Mar 24;124(6):1269-82.
05/02/2006 Hugh McDevitt

Common alleles of common genes predispose to common diseases

  • Wang WY et al. Genome-wide association studies: theoretical and practical concerns. Nat Rev Genet. 2005 Feb;6(2):109-18.
  • Smyth DJ et al. Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases. BMC Med Genet. 2006 Mar 6;7:20.
  • Vang T et al. Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat Genet. 2005 Dec;37(12):1317-9. Epub 2005 Nov 6.
04/25/06 Michele Calos

Gene therapy for hemophilia - success or flop?

  • Manno CS et al. Successful transduction of liver in hemophilia by AAV-Factor IX and limitations imposed by the host immune response. Nat Med. 2006 Mar;12(3):342-347. Epub 2006 Feb 12.
04/18/06 Louanne Hudgins

What is the best way to screen for Down syndrome in pregnancy?

  • Malone FD et al. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med. 2005 Nov 10;353(19):2001-11.
  • Wapner R et al. First-trimester screening for trisomies 21 and 18. N Engl J Med. 2003 Oct 9;349(15):1405-13.
04/11/06 Luca Cavalli-Sforza My Work in Genetics
04/04/06 Tu Nguyen

Caloric restriction and ageing: The molecular basis for longevity and the Sir2 connection

  • Leibiger IB & Berggren PO. Sirt1: a metabolic master switch that modulates lifespan. Nat Med. 2006 Jan;12(1):34-6; discussion 36.
  • Mostoslavsky R et al. Genomic instability and aging-like phenotype in the absence of mammalian SIRT6. Cell. 2006 Jan 27;124(2):315-29.
03/28/06 Alessandra Splendore

The making of a Leukemia: lessons from Down syndrome

  • Hitzler JK and Zipursky A. Origins of leukaemia in children with Down syndrome. Nat Rev Cancer. 2005 Jan;5(1):11-20.
  • Crispino JD. GATA1 mutations in Down syndrome: implications for biology and diagnosis of children with transient myeloproliferative disorder and acute megakaryoblastic leukemia. Pediatr Blood Cancer. 2005 Jan;44(1):40-4.
03/21/06 Kristina Cusmano


  • Lerner-Ellis JP et al. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat Genet. 2006 Jan;38(1):93-100. Epub 2005 Nov 27.

03/14/06 Jinglan Liu

Interchromosomal Association and Gene Expression

  • Xu N et al. Transient homologous chromosome pairing marks the onset of x inactivation. Science. 2006 Feb 24;311(5764):1149-1152. Epub 2006 Jan
  • Bacher CP et al. Transient colocalization of X-inactivation centres accompanies the initiation of X inactivation. Nat Cell Biol. 2006 Mar;8(3):293-299. Epub 2006 Jan 24.
  • Spilianakis CG et al. Interchromosomal associations between alternatively expressed loci. Nature. 2005 Jun 2;435(7042):637-645. Epub 2005 May 8.
  • Koza RA et al. Synergistic gene interactions control the induction of the mitochondrial uncoupling protein (Ucp1) gene in white fat tissue. J Biol Chem. 2000 Nov 3;275(44):34486-34492
03/07/06 No Talk No Talk
02/28/06 Athena M. Cherry HRAS Mutation Analysis in Costello Syndrome
  • Gripp KW et al. HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation. Am J Med Genet A. 2006 Jan 1;140(1):1-7.
  • Estep AL et al. HRAS mutations in Costello syndrome: Detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. Am J Med Genet A. 2006 Jan 1;140(1):8-16.
02/21/06 Joachim Hallmayer

Deletions, Deletions and More Deletions

  • Conrad DF et al. A high-resolution survey of deletion polymorphism in the human genome. Nat Genet. 2006 Jan;38(1):75-81.
  • McCarroll SA et al. Common deletion polymorphisms in the human genome Nat Genet. 2006 Jan;38(1):86-92.
  • Hinds DA et al. Common deletions and SNPs are in linkage disequilibrium in the human genome. Nat Genet. 2006 Jan;38(1):82-85.
  • Tuzun E et al. Fine-scale structural variation of the human genome. Nat Genet. 2005 Jul;37(7):727-32.
02/14/06 no talk  


Joseph Shieh

Meckel-Gruber syndrome: A disorder related to cilia?

  • Smith UM et al. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet. 2006 Jan 15; [Epub ahead of print]
  • Kyttala M et al. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nat Genet. 2006 Jan 15; [Epub ahead of print]
01/31/06 Tom Cushing

Ethical issues in stem cell research

  • Liao SM. Rescuing human embryonic stem cell research: the Blastocyst Transfer Method. Am J Bioeth. 2005 Nov-Dec;5(6):8-16.
  • Nelson LJ & Meyer MJ. Confronting deep moral disagreement: the President's Council on Bioethics, moral status, and human embryos. Am J Bioeth. 2005 Nov-Dec;5(6):33-42.
  • reference 3 (Magnus)
  • reference 4 (Greenfield)
01/24/06 No Talk given No talk
01/17/06 Greg Barsh

Skin deep: a zebrafish mutation helps explain normal variation in human pigmentation

  • Lamason RL et al. SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans. Science. 2005 Dec 16;310(5755):1782-6.
01/10/06 Hannes Vogel

Senescence: The good news

  • Braig M et al. Oncogene-induced senescence as an initial barrier in lymphoma development. Nature. 2005 Aug 4;436(7051):660-5.
  • Chen Z et al. Crucial role of p53-dependent cellular senescence in suppression of Pten-deficient tumorigenesis. Nature. 2005 Aug 4;436(7051):725-30.
12/13/05 Uta Francke

Regulation of RNA splicing: A new function for the product of the MECP2 (Rett syndrome) gene?

  • Jeffery L & Nakielny S. Components of the DNA methylation system of chromatin control are RNA-binding proteins. J Biol Chem. 2004 Nov 19;279(47):49479-87. Epub 2004 Sep 1.
  • Young JI et al. Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2. Proc Natl Acad Sci U S A. 2005 Oct 26; [Epub ahead of print]
12/06/05 Girish V. Putcha

RNAi Strategies as Cancer Therapeutics: The Hype and the Hope

  • Krutzfeldt J et al. Silencing of microRNAs in vivo with 'antagomirs' Nature. 2005 Oct 30; [Epub ahead of print]
  • Thomas M et al. Targeting MLL-AF4 with short interfering RNAs inhibits clonogenicity and engraftment of t(4;11)-positive human leukemic cells. Blood. 2005 Nov 15;106(10):3559-66. Epub 2005 Jul 26.
11/29/05 Jim Ford Little r, big C: microRNAs and Cancer
  • He L et al. A microRNA polycistron as a potential human oncogene. Nature. 2005 Jun 9;435(7043):828-33.
  • Lu J et al. MicroRNA expression profiles classify human cancers. Nature. 2005 Jun 9;435(7043):834-8.
  • Calin GA et al. A MicroRNA signature associated with prognosis and progression in chronic lymphocytic leukemia. N Engl J Med. 2005 Oct 27;353(17):1793-801.

Greg Enns

Alternative methods for embryonic stem cell derivation

  • Meissner A and Jaenisch R. Generation of nuclear transfer-derived pluripotent ES cells from cloned Cdx2-deficient blastocysts. Nature. 2005 Oct 16; [Epub ahead of print]
  • Chung Y et al. Embryonic and extraembryonic stem cell lines derived from single mouse blastomeres. Nature. 2005 Oct 16; [Epub ahead of print]
11/15/05 Gene Hoyme

Microarray-based CGH in the practice of clinical genetics: Progress and controversies

  • de Vries BB et al. Diagnostic genome profiling in mental retardation. Am J Hum Genet. 2005 Oct;77(4):606-16. Epub 2005 Aug 30.
  • Schoumans J et al. Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH). J Med Genet. 2005 Sep;42(9):699-705.
  • Vissers LE et al. Identification of disease genes by whole genome CGH arrays. Hum Mol Genet. 2005 Oct 15;14 Suppl 2:R215-23.
  • Rickman L et al. Prenatal detection of unbalanced chromosomal rearrangements by array-CGH. J Med Genet. 2005 Sep 30; [Epub ahead of print]
11/08/05 Eloise Prijoles

COL2A1: Mutations and clinical correlation

  • Nishimura G et al. The phenotypic spectrum of COL2A1 mutations. Hum Mutat. 2005 Jul;26(1):36-43.
  • Rose PS et al. Stickler syndrome: clinical characteristics and diagnostic criteria. Am J Med Genet A. 2005 Oct 15;138(3):199-207.
11/01/05 Tina Cowan

Synergistic heterozygosity: A new mechanism for the multifactorial cause of metabolic disorders

  • Schuler AM et al. Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation. Mol Genet Metab. 2005 May;85(1):7-11. Epub 2005 Feb
  • Vladutiu GD. Heterozygosity: an expanding role in proteomics. Mol Genet Metab. 2001 Sep-Oct;74(1-2):51-63.
10/25/05 No talk No talk - ASHG Meeting
10/18/05 Swaroop Aradhya

Human subtelomere genomics

  • Linardopoulou EV et al. Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication. Nature 437:94-100. Sep 1, 2005
10/11/05 Olivera M. Mitrasinovich

Beyond Genetic Epidemiology of Alzheimer's Neurodegeneration

  • Snyder EM et al. Regulation of NMDA receptor trafficking by amyloid-beta. Nat Neurosci. 2005 Aug;8(8):1051-8. Epub 2005 Jul 17.
  • Bertram L and Tanzi RE. The genetic epidemiology of neurodegenerative disease. J Clin Invest. 2005 Jun;115(6):1449-57.
10/04/05 No talk No talk scheduled
09/27/05 Curt Scharfe Challenges in finding common disease genes: example obesity
  • Boutin P et al. GAD2 on chromosome 10p12 is a candidate gene for human obesity. PLoS Biol. 2003 Dec;1(3):E68. Epub 2003 Nov 3.
  • Swarbrick MM et al. Lack of Support for the Association between GAD2 Polymorphisms and Severe Human Obesity. PLoS Biol. 2005 Sep;3(9):e315. Epub 2005 Aug 30.
09/20/05 Jessica Bessler

Examining the distribution of chromatin modifications

  • Vakoc CR et al. Histone H3 lysine 9 methylation and HP1gamma are associated with transcription elongation through mammalian chromatin. Mol Cell. 2005 Aug 5;19(3):381-91.
  • Pokholok DK et al. Genome-wide Map of Nucleosome Acetylation and Methylation in Yeast. Cell. 2005 Aug 26;122(4):517-27.
09/13/05 Feng Ding

Molecular mechanism of X-chromosome inactivation

  • Lee, JT Regulation of X-chromosome counting by Tsix and Xite sequences. Science. 2005 Jul 29;309(5735):768-71.
  • Okamoto, I. et al. Epigenetic dynamics of imprinted X inactivation during early mouse development. Science. 2004 Jan 30;303(5658):644-9. Epub 2003 Dec 11.
  • Mak, W. et al. Reactivation of the paternal X chromosome in early mouse embryos. Science. 2004 Jan 30;303(5658):666-9.

Lee Kozar

You are only as smart as your PACAP

  • Wang Y et al. Accelerated Evolution of the PACAP Precursor Gene During Human Origin. Genetics. 2005 Apr 16; [Epub ahead of print]
06/14/05 Renata Gallagher

The Astounding Architecture of Segmental Duplications

  • She X et al. The structure and evolution of centromeric transition regions within the human genome. Nature. 2004 Aug 19;430(7002):857-64.
  • Locke DP et al. Molecular evolution of the human chromosome 15 pericentromeric region. Cytogenet Genome Res. 2005;108(1-3):73-82.
06/07/05 Jonathan Pollack

Chipping away at mouse models of human cancer

  • Lee JS et al. Application of comparative functional genomics to identify best-fit mouse models to study human cancer. Nat Genet. 2004 Dec;36(12):1306-11. Epub 2004 Nov
  • Sweet-Cordero A et al. An oncogenic KRAS2 expression signature identified by cross-species gene-expression analysis. Nat Genet. 2005 Jan;37(1):48-55. Epub 2004 Dec 19.

Eloise Prijoles

Finding the gene for Roberts syndrome

  • Musio A et al, Recapitulation of the Roberts syndrome cellular phenotype by inhibition of INCENP, ZWINT-1 and ZW10 genes. Gene. 2004 Apr 28;331:33-40.
  • Vega H et al, Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. Nat Genet. 2005 May;37(5):468-70. Epub 2005 Apr 10.


05/24/05 Melanie Manning

Progressive osseous heteroplasia vs. pseudohypoparathyroidism: the continuing saga of GNAS imprinting

  • Linglart A et al., A Novel STX16 Deletion in Autosomal Dominant Pseudohypoparathyroidism Type Ib Redefines the Boundaries of a cis-Acting Imprinting Control Element of GNAS. Am J Hum Genet. 2005 May;76(5):804-14. Epub 2005 Mar 30.
  • Liu J et al., Identification of the control region for tissue-specific imprinting of the stimulatory G protein alpha-subunit. Proc Natl Acad Sci U S A. 2005 Apr 12;102(15):5513-8. Epub 2005 Apr 5.


05/17/05 Hank Greely

New Developments in Forensic DNA:  Race, Family, and Abortion

  • Cho MK, and Sankar P. Forensic genetics and ethical, legal and social implications beyond the clinic. Nat Genet. 2004 Nov;36(11 Suppl):S8-12.
  • Shriver M et al. Getting the science and the ethics right in forensic genetics. Nat Genet. 2005 May;37(5):449-50.
  • Kansas HB 2380, The Child Rape Protection Act (enacted, April 14, 2005)
05/10/05 Joseph Shieh

Progeria: The nucleus of the problem

  • Goldman RD et al. Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A. 2004 Jun 15;101(24):8963-8. Epub 2004 Jun 7.
  • Scaffidi P,and Misteli T. Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome. Nat Med. 2005 Apr;11(4):440-5. Epub 2005 Mar 6.
05/03/05 Tina Cowan

The role of TAZ in mitochondrial function: New insights into Barth syndrome.

  • Vaz FM et al. Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism. J Biol Chem. 2003 Oct 31;278(44):43089-94. Epub 2003 Aug 20.
  • Ma L et al. The human TAZ gene complements mitochondrial dysfunction in the yeast taz1Delta mutant. Implications for Barth syndrome. J Biol Chem. 2004 Oct 22;279(43):44394-9. Epub 2004 Aug 10.
04/26/05 Joanna Mountain

On the defensive! Host genetics and HIV resistance

  • Gonzalez E et al. The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science. 2005 Mar 4;307(5714):1434-40. Epub 2005 Jan 6.
  • Kiepiela P et al. Dominant influence of HLA-B in mediating the potential co-evolution of HIV and HLA. Nature. 2004 Dec 9;432(7018):769-75.
04/19/05 Swaroop Aradhya

X-chromosome architecture, inactivation, and disease mechanisms

  • Carrel L and Willard HF. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature. 2005 Mar 17;434(7031):400-4.
  • Ross MT et al. The DNA sequence of the human X chromosome. Nature. 2005 Mar 17;434(7031):325-37.
04/12/05 Anita Beck Narrowing in on the Neurocognitive Phenotype of Williams Syndrome
  • Morris CA, et al. GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region. Am J Med Genet A. 2003 Nov 15;123(1):45-59
  • Hirota H, et al. Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23. Genet Med. 2003 Jul-Aug;5(4):311-21
  • Hinsley TA, et al. Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome. Protein Sci. 2004 Oct;13(10):2588-99
04/05/05 Jinglan Liu

Brahma links the SWI/SNF chromatin-remodeling complex with MeCP2-dependent transcriptional silencing

  • Harikrishnan KN, et al. Brahma links the SWI/SNF chromatin-remodeling complex with MeCP2-dependent transcriptional silencing. Nat Genet. 2005 Mar;37(3):254-64. Epub 2005 Feb 6.
03/29/05 cancelled cancelled
03/22/05 Joseph Gleeson

Special Seminar at Clark Center S360: Joubert Syndrome and Related Disorders

  • No refs
03/15/05 Mike Lyons

For The Smell Of It: The Role of Anosmin-1 and FGFR1 in Kallmann Syndrome

  • Dode C, et al. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet. 2003 Apr;33(4): 463-5. Epub 2003 Mar 10.
  • Gonzalez-Martinez D, et al. Anosmin-1 modulates fibroblast growth factor receptor 1 signalning in human gonadotropin-releasing hormone olfactory neuroblasts through a heparan sulfate-dependent mechanism. J Neurosci. 2004 Nov 17;24(46):10384-92.
03/08/05 Raj Mariappan


  • Tallini G. Oncocytic tumours. Virchows Arch. 1998 Jul;433(1):5-12.
  • Savagner F et al. Mitochondrial activity in XTC.UC1 cells derived from thyroid oncocytoma. Thyroid. 2001 Apr;11(4):327-33.
03/01/05 Hong-Hua Li

You are what your mother does to you

  • Weaver IC et al. Epigenetic programming by maternal behavior. Nat Neurosci. 2004 Aug;7(8):847-54. Epub 2004 Jun 27.

  • Zhang, TY et al. Influence of naturally occurring variations in maternal care on prepulse inhibition of acoustic startle and the medial prefrontal cortical dopamine response to stress in adult rats. J Neurosci. 2005 Feb 9;25(6):1493-502.

02/22/05 Joachim Hallmayer

Umhverfa Saga

  • Stefansson H et al. A common inversion under selection in Europeans. Nat Genet. 2005 Feb;37(2):129-37. Epub 2005 Jan 16.
  • Skipper L et al. Linkage disequilibrium and association of MAPT H1 in Parkinson disease. Am J Hum Genet. 2004 Oct;75(4):669-77. Epub 2004 Aug 03.
  • Iafrate AJ et al. Detection of large-scale variation in the human genome. Nat Genet. 2004 Sep;36(9):949-51. Epub 2004 Aug 01.


02/15/05 Gene Hoyme

The Ups and Downs of Gene Regulation in Alcohol Exposed Embryos:  A genetic pathogenesis for the fetal alcohol syndrome?

  • Hard ML et al. Gene-expression analysis after alcohol exposure in the developing mouse. J Lab Clin Med. 2005 Jan;145(1):47-54.
  • Peng Y et al. A critical role of Pax6 in alcohol-induced fetal microcephaly. Neurobiol Dis. 2004 Jul;16(2):370-6.
  • Da Lee R et al. Differential gene profiles in developing embryo and fetus after in utero exposure to ethanol. J Toxicol Environ Health A. 2004 Dec;67(23-24):2073-84.
02/08/05 Laura Lazzeroni

Genetic associations: Replication and race

  • Ioannidis JP et al. Replication validity of genetic association studies. Nat Genet. 2001 Nov;29(3):306-9.
  • Ioannidis JP et al. Genetic associations in large versus small studies: an empirical assessment. Lancet. 2003 Feb 15;361(9357):567-71.
  • Trikalinos TA et al. Establishment of genetic associations for complex diseases is independent of early study findings. Eur J Hum Genet. 2004 Sep;12(9):762-9.
  • Ioannidis JP et al. 'Racial' differences in genetic effects for complex diseases. Nat Genet. 2004 Dec;36(12):1312-8. Epub 2004 Nov 14.
02/01/05 Greg Barsh

Needles in haystacks

  • Scapoli L et al., Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population. Am J Hum Genet. 2005 Jan;76(1):180-3. Epub 2004 Nov 19.
  • Zucchero TM et al., Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med. 2004 Aug 19;351(8):769-80.


01/25/05 Louanne Hudgins

Connexin mutations and human disease two years later: What can we predict based on specific allele variants in connexin 26 and connexin 30?

  • Cryns K et al. A genotype-phenotype correlation for GJB2 (connexin 26) deafness. J Med Genet. 2004 Mar;41(3):147-54.
  • Roux AF et al. Molecular epidemiology of DFNB1 deafness in France. BMC Med Genet. 2004 Mar 06;5(1):5.
  • Erbe CB et al. Connexin 26 and connexin 30 mutations in children with nonsyndromic hearing loss. Laryngoscope. 2004 Apr;114(4):607-11.
  • Smith RJ. Clinical application of genetic testing for deafness. Am J Med Genet A. 2004 Sep 15;130(1):8-12. Review. ].


Hugh McDevitt

Genes For Autoimmunity

  • Ueda H et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature. 2003 May 29;423(6939):506-11. Epub 2003 Apr 30.


Marshall Horwitz

Division of Medical Genetics

University of Washington, Seattle, WA

Special Seminar: Cyclic and Congenital Neutropenia 
01/04/05 No Talk No talk scheduled


12/28/04 No Talk Winter Closure
12/21/04 No Talk Winter Closure
12/14/04 Hannes Vogel

Mitochondria and muscular dystrophy. From here to there

  • Rizzuto R. The collagen-mitochondria connection. Nat Genet. 2003 Dec;35(4):300-1.
  • Irwin WA et al. Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency. Nat Genet. 2003 Dec;35(4):367-71.
  • Baker NL et al. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet. 2004 Nov 24; [Epub ahead of print]


12/07/04 Uta Francke

Marfan syndrome upside down - new gene, new mechanism

  • Mizuguchi T et al. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet. 2004 Aug;36(8):855-60. Epub 2004 Jul 04.
  • Judge DP et al. Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome. J Clin Invest. 2004 Jul;114(2):172-81.
11/30/04 Jim Ford

Targeting targeted therapies: EGFR mutations and response to gefitinib in lung cancer

  • Lynch TJ et al. Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib.N Engl J Med. 2004 May 20; 350 (21): 2129-39. Epub 2004 Apr 29.
  • Paez JG et al. EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. Science. 2004 Jun 4; 304(5676): 1497-500. Epub 2004 Apr 29.
  • Pao W et al. EGF receptor gene mutations are common in lung cancers from "never smokers" and are associated with sensitivity of tumors to gefitinib and erlotinib.Proc Natl Acad Sci U S A. 2004 Sep 7;101(36):13306-11. Epub 2004 Aug 25.
  • Sordella R et al. Gefitinib-sensitizing EGFR mutations in lung cancer activate anti-apoptotic pathways. Science. 2004 Aug 20;305(5687):1163-7. Epub 2004 Jul 29.


11/23/04 Greg Enns

Mitochondrial tRNA mutations: from encephalopathy to metabolic syndrome (syndrome X)

  • Wilson FH et al. A cluster of metabolic defects caused by mutation in a mitochondrial tRNA. Science. 2004 Nov 12; 306 (5699): 1190-4. Epub 2004 Oct 21.
  • Limongelli A et al. Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome. J Med Genet. 2004 May; 41 (5): 342-9.
11/16/04 Feng Ding

Mouse Models for Down Syndrome and Chromosome Engineering

  • Olson LE et al. A chromosome 21 critical region does not cause specific down syndrome phenotypes. Science. 2004 Oct 22; 306 (5696): 687-90.
  • Amano K et al. Dosage-dependent over-expression of genes in the trisomic region of Ts1Cje mouse model for Down syndrome. Hum Mol Genet. 2004 Jul 1;13 (13): 1333-40. Epub 2004 May 11.
  • Adams DJ et al. Mutagenic insertion and chromosome engineering resource (MICER). Nat Genet. 2004 Aug; 36 (8): 867-71. Epub 2004 Jul 04.
11/09/04 Omar Abdul-Rahman

MECP2, UBE3A... and now CDKL5

  • Weaving LS et al. Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation. Am J Hum Genet. 2004 Oct 18; 75 (6) [Epub ahead of print]
  • Tao J et al. Mutations in the X-Linked Cyclin-Dependent KinaseLike 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation. Am. J. Hum. Genet., 75: 000, 2004
11/02/04 No Talk Open Slot
10/26/04 No talk ASHG Meeting
10/19/04 Olivera M. Mitrasinovich

Genetic Variations and Alzheimer's Disease

  • Wijsman EM et al. Evidence for a novel late-onset Alzheimer disease locus on chromosome 19p13.2. Am J Hum Genet. 2004 Sep;75 (3): 398-409. Epub 2004 Jul 08.
  • Halks-Miller M et al. CCR1 is an early and specific marker of Alzheimer's disease. Ann Neurol. 2003 Nov;54(5):638-46.
  • Selkoe D. Alzheimer's disease is a synaptic failure. Science. 2002 Oct 25;298(5594):789-91.
  • DeKosky ST and Marek K. Looking backward to move forward: early detection of neurodegenerative disorders. Science. 2003 Oct 31;302(5646):830-4.


10/12/04 Tena Cherry

Seckel Syndrome: Another Chromosomal Breakage Syndrome?

  • Casper AM et al. Chromosomal instability at common fragile sites in seckel syndrome. J Hum Genet. 2004 Oct;75(4):654-60. Epub 2004 Aug 12.
  • O'Driscoll M et al. A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. Nat Genet. 2003 Apr;33(4):497-501.
10/05/04 Rick Myers

The Genetics of Gene Expression

  • Morley M et al.Genetic analysis of genome-wide variation in human gene expression.Nature. 2004 Aug 12;430(7001):743-7. Epub 2004 Jul 21.
  • *Also see the News and Views on page 733-734 of the same issue of Nature.
9/21/04 Birgitt Schuele

The gene for Cornelia de Lange syndrome is found: NIPBL, the human homolog of the fly Nipped-B

  • Gillis LA et al., NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations.Am J Hum Genet. 2004 Oct;75(4):610-23. Epub 2004 Aug 18.
  • Krantz ID et al., Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet. 2004 Jun;36(6):631-5. Epub 2004 May 16.
  • Tonkin ET et al., NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet. 2004 Jun;36(6):636-41. Epub 2004 May 16.
6/22/04 Annahita Keravala

Dynamic Tracking of HSC Engraftment

  • Wang X et al. Dynamic tracking of human hematopoietic stem cell engraftment using in vivo bioluminescence imaging. Blood. 2003 Nov 15;102(10):3478-82.Epub 2003 Aug 28.
  • Cao YA et al. Shifting foci of hematopoiesis during reconstitution from single stem cells. Proc Natl Acad Sci U S A. 2004 Jan 6;101(1):221-6. Epub 2003 Dec 19.
  • Dao MA & Nolta JA Immunodeficient mice as models of human hematopoietic stem cell engraftment. Curr Opin Immunol. 1999 Oct;11(5):532-7.
  • Hao QL et al. In vitro identification of single CD34+CD38- cells with both lymphoid and myeloid potential. Blood. 1998 Jun 1;91(11):4145-51.
6/15/04 Cancelled Cancelled
6/08/04 Jonathan Pollack

Chips Ahoy: The Role of Cyclin D1 in Cancer

  • Lamb J et al. A mechanism of cyclin D1 action encoded in the patterns of gene expression in human cancer. Cell. 2003 Aug 8;114(3):323-34.
6/01/04 Mike Lyons

Rhebbing it up for a TOR of Tuberous Sclerosis Complex

  • Castro AF et al. Rheb binds tuberous sclerosis complex 2 (TSC2) and promotes S6 kinase activation in a rapamycin- and farnesylation-dependent manner.J Biol Chem. 2003 Aug 29;278(35):32493-6. Epub 2003 Jul 03.
  • Tee AR et al. Tuberous sclerosis complex gene products, Tuberin and Hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb. Curr Biol. 2003 Aug 5;13(15):1259-68.
5/25/04 Greg Barsh

Crypts, Furrows, and Twins: Genetics of Eye Color

  • Frudakis T et al. Sequences associated with human iris pigmentation. Genetics. 2003 Dec;165(4):2071-83.
  • Duffy DL et al. Interactive effects of MC1R and OCA2 on melanoma risk phenotypes. Hum Mol Genet. 2004 Feb 15;13(4):447-61. Epub 2004 Jan
  • Larsson M et al. Importance of genetic effects for characteristics of the human iris. Twin Res. 2003 Jun;6(3):192-200.
5/18/04 Melanie Manning

Don't Get MAD, Be Glad; ZMPSTE24 Identified as Another Gene Causing Mandibuloacral Dysplasia

  • Agarwal AK et al. Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Hum Mol Genet. 2003 Aug 15;12(16):1995-2001.
  • Simha V et al. Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy. J Clin Endocrinol Metab. 2003 Jun;88(6):2821-4.
  • Pendas AM et al. Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase-deficient mice. Nat Genet. 2002 May;31(1):94-9. Epub 2002 Apr 01.
5/11/04 Hank Greely

Saviour Siblings, Designer Babies, and Other Issues Arising from Pre-Implantation Genetic Diagnosis

  • Wolf SM et al. Using Preimplantation Genetic Diagnosis to Create a Stem Cell Donor: Issues, Guidelines & Limits, Journal ofLaw, Medicine & Ethics 31:327-336 (2003)
  • Verlinsky et al. Preimplantation HLA Testing. JAMA 2004;291(17):2079-2085
5/04/04 Darrel Wilson

Children: Sweet or Dry
Dilemmas with Dextrose

  • Verkarre V et al.Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. J Clin Invest. 1998 Oct 1;102(7):1286-91.
  • de Lonlay P et al. Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. J Clin Invest. 1997 Aug 15;100(4):802-7.
4/27/04 Margaret Adam

Telling Your Left from Your Right: ZIC3 and its Effects on Laterality


  • Ware SM et al. Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet. 2004 Jan;74(1):93-105. Epub 2003 Dec 16.

  • Purandare SM et al. A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice. Development. 2002 May;129(9): 2293-302.

  • Koyabu Y et al. Physical and functional interactions between Zic and Gli proteins. J Biol Chem. 2001 Mar 9;276(10):6889-92. Epub 2001 Jan 12.
4/20/04 Cancelled  
4/13/04 Anita Beck

BAC to the Future: Implications of a Complete-Coverage Human BAC Microarray for Cancer and Microdeletion/Duplication Syndromes

  • Ishkanian AS et al. A tiling resolution DNA microarray with complete coverage of the human genome. Nat Genet. 2004 Mar;36(3):299-303. Epub 2004 Feb 15.


4/06/04 Cancelled  
3/30/04 Tina Cowan

The Complexities of Complex I: Toward a Molecular Understanding of Mitochondrial Respiratory Chain Disorders

  • Grad LI and Lemire BD. Mitochondrial complex I mutations in Caenorhabditis elegans produce cytochrome c oxidase deficiency, oxidative stress and vitamin-responsive lactic acidosis. Hum Mol Gen, 2004 13 (3):303-314.
  • Benit P et al. Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. J Med Genet. 2004 Jan;41(1):14-7.
3/23/04 Jingly Fung Weier

Programming the X Chromosome

  • Okamoto I et al. Epigenetic dynamics of imprinted X inactivation during early mouse development. Science. 2004 Jan 30;303(5658):644-9. Epub 2003 Dec 11.
  • Mak W et al. Reactivation of the paternal X chromosome in early mouse embryos. Science. 2004 Jan 30;303(5658):666-9.
3/16/04 None None
3/09/04 Iris Schrijver

It Takes Two to Tango: Digenic Inheritance in Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss

  • Del Castillo I et al. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med. 2002 Jan 24;346(4):243-9.
  • Ahmad S et al. Connexins 26 and 30 are co-assembled to form gap junctions in the cochlea of mice. Biochem Biophys Res Commun. 2003 Jul 25;307(2):362-8.
  • Del Castillo I et al. Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet. 2003 Dec;73(6):1452-8. Epub 2003 Oct 21.
3/02/04 Ruth Lin

Craniosynostosis Syndromes: Many Factors to Consider

  • Ibrahimi OA et al. Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity.Hum Mol Genet. 2004 Jan 1;13(1):69-78. Epub 2003 Nov 12.
  • Wilkie AO et al. FGFs, their receptors, and human limb malformations: clinical and molecular correlations. Am J Med Genet. 2002 Oct 15;112(3):266-78.
  • Ibrahimi OA et al. Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome. Proc Natl Acad Sci U S A. 2001 Jun 19;98(13):7182-7. Epub 2001 Jun 05.
2/24/04 Renata C. Gallagher

A molecular basis for a genetic modifier

  • Buchner DA et al. SCNM1, a putative RNA splicing factor that modifies disease severity in mice. Science. 2003 Aug 15;301(5635):967-9.
  • Nadeau JH. Genetics. Modifying the message. Science. 2003 Aug 15;301(5635):927-8.
2/17/04 Louanne Hudgins

Passing SHPs in the night: The role of PTPN11 mutations in Noonan syndrome and myeloid malignancies

  • Musante L et al. Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. Eur J Hum Genet. 2003 Feb;11(2):201-6.
  • Tartaglia M et al. Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet. 2003 Jun;34(2):148-50.
  • Tartaglia M et al. SHP-2 and myeloid malignancies. Curr Opin Hematol. 2004 Jan;11(1):44-50.
2/10/04 Horst Hameister

Special Seminar:The human genome: A conserved arrangement allows development of the most complex traits.


  • Coyne JA Genetics and speciation.Nature. 1992 Feb 6;355(6360):511-5.
  • Zechner U et al. An X-chromosome linked locus contributes to abnormal placental development in mouse interspecific hybrid.Nat Genet. 1996 Apr;12(4):398-403.
  • Murphy WJ et al. The origin of human chromosome 1 and its homologs in placental mammals. Genome Res. 2003 Aug;13(8):1880-8. Epub 2003 Jul 17.
2/03/04 Laura Lazzeroni

Theoretical models for haplotype blocks: How do they fit the data?

  • Anderson EC et al. Population-genetic basis of haplotype blocks in the 5q31 region. Am J Hum Genet. 2004 Jan; 74(1): 40-9. Epub 2003 Dec 17.
  • Wall JD et al. Assessing the performance of the haplotype block model of linkage disequilibrium. Am J Hum Genet. 2003 Sep; 73(3): 502-15. Epub 2003 Aug 11.
1/27/04 Gene Hoyme

Genetic Disorders in Native Americans: Of Bottlenecks and Land Bridges

  • Yi Z et al. A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population. Am J Hum Genet. 2003 Jan; 72(1): 62-72. Epub 2002 Dec 05.
  • Holve S et al. Metachromatic leukodystrophy in the Navajo: fallout of the American-Indian wars of the nineteenth century. Am J Med Genet. 2001 Jul 1; 101(3): 203-8.
1/20/04 Omar Abdul-Rahman

Finding NEMO was Only Part of the Story

  • Huang TT et al. Sequential modification of NEMO/IKKgamma by SUMO-1 and ubiquitin mediates NF-kappaB activation by genotoxic stress. Cell. 2003 Nov 26;115(5):565-76.
  • Zhou H et al. Bcl10 activates the NF-kappaB pathway through ubiquitination of NEMO. Nature. 2003 Dec 24 [Epub ahead of print].
1/13/04 Joachim Hallmayer

Old Fathers: A New Twist to an Old Problem

  • Tiemann-Boege I et al. The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect. Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):14952-7.
  • Glaser RL et al. The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm. Am J Hum Genet. 2003 Oct;73(4):939-47. Epub 2003 Jul 31.
  • Goriely A et al. Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line. Science. 2003 Aug 1;301(5633):643-6.
12/16/03 Jim Ford

Another genetic pathway to colorectal polyposis and cancer: MYH and base excision DNA repair

  • Lipton L et al. Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway. Cancer Res. 2003 Nov 15;63(22):7595-9.
  • Hirano S et al. Mutator phenotype of MUTYH-null mouse embryonic stem cells. J Biol Chem. 2003 Oct 3;278(40):38121-4.
  • Cheadle JP, Sampson JR. Exposing the MYtH about base excision repair and human inherited disease. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R159-65.
  • Jones S et al. Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations. Hum Mol Genet. 2002 Nov 1;11(23):2961-7.
12/9/03 Birgitt Schuele

MeCP2 - Not a Global Transcriptional Repressor

  • Chen et al. Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2. Science. 2003 Oct 31;302(5646):885-9.
  • Martinowich et al. DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation. Science. 2003 Oct 31;302(5646):890-3.
12/2/03 Devin Absher

a-Synuclein Aggregation and Neurodegeneration

  • Sharon R et al. The formation of highly soluble oligomers of alpha-synuclein is regulated by fatty acids and enhanced in Parkinson's disease. Neuron. 2003 Feb 20;37(4):583-95.
  • Wersinger C et al. Mutations in the lipid-binding domain of alpha-synuclein confer overlapping, yet distinct, functional properties in the regulation of dopamine transporter activity. Mol Cell Neurosci. 2003 Sep;24(1):91-105.
  • Singleton AB et al. alpha-Synuclein locus triplication causes Parkinson's disease. Science. 2003 Oct 31;302(5646):841.
11/25/03 Greg Enns

Is Cancer a Mitochondrial Disorder?

  • Eng C et al. A role for mitochondrial enzymes in inherited neoplasia and beyond. Nat Rev Cancer. 2003 Mar;3(3):193-202.
  • Toro JR et al. Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am J Hum Genet. 2003 Jul;73(1):95-106. Epub 2003 May 22.
11/18/03 Peter Nagy

Tales of Tails

  • Wood A et al. The Paf1 complex is essential for histone monoubiquitination by the Rad6-Bre1 complex, which signals for histone methylation by COMPASS and Dot1p. J Biol Chem. 2003 Sep 12;278(37):34739-42. Epub 2003 Jul 21.
  • Ng HH et al. The Rtf1 component of the Paf1 transcriptional elongation complex is required for ubiquitination of histone H2B. J Biol Chem. 2003 Sep 5;278(36):33625-8. Epub 2003 Jul 21.
11/11/03 Unsal Kuscuoglu

A Secret Guardian of Cell Death is Revealed: Histone H1.2 Links DNA-Damage to Apoptosis

  • Konishi et al.(2003) Involvement of Histone H1.2 in Apoptosis Induced by DNA Double-Strand Breaks. Cell. 2003 Sep 19;114(6):673-88.
10/28/03 Bill Wong

MicroRNA: novel 'oncogene' controlling cell growth and death in Drosophila

  • Brennecke J et al. bantam encodes a developmentally regulated microRNA that controls cell proliferation and regulates the proapoptotic gene hid in Drosophila.Cell. 2003 Apr 4;113(1):25-36.
  • Xu P et al.The Drosophila MicroRNA Mir-14 Suppresses Cell Death and Is Required for Normal Fat Metabolism. Curr Biol. 2003 Apr 29;13(9):790-5.
10/21/03 Olivera M. Mitrasinovich

Genetic Disruption in abcb1ab (mdr1ab) Multiple Drug Resistance Gene and Therapeutic Implications

  • Manfred Uhr et al. Differential Enhancement of Antidepressant Penetration into the Brain in Mice with abcb1ab (mdr1ab) P-Glycoprotein Gene Disruption. Biol Psychiatry. 2003 Oct 15;54(8):840-6
  • Richard B. Kim, et al. Identification of Functionally Variant MDR1 alleles among European Americans and African Americans. Clin Pharmacol Ther. 2001 Aug;70(2):189-99.


Lee Kozar

You're only as young as your lamin-a

  • Eriksson M, et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature. 2003 May 15;423(6937):293-8
  • De Sandre-Giovannoli A, et al. Lamin a truncation in Hutchinson-Gilford progeria. Science. 2003 Jun 27;300(5628):2055.


Uta Francke

Knocked-out by your Neighbor: one way to get sick

  • Barbour VM et al. Alpha-thalassemia resulting from a negative chromosomal position effect. Blood. 2000 Aug 1;96(3):800-7.
  • Tufarelli C et al. Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease. Nat Genet. 2003 Jun;34(2):157-65.


Feng Ding

Anti-Central-Dogma-ism: RNAi extends its reach to chromatin - New insights into the mechanism of gene silencing

  • Schramke V, Allshire R.Hairpin RNAs and retrotransposon LTRs effect RNAi and chromatin-based gene silencing.Science. 2003 Aug 22;301(5636):1069-74.


Doug Vollrath

Making a Methuselah Mickey: insulin/IGF-1 receptor mutations increase lifespan in mice

  • Holzenberger M et al. IGF-1 receptor regulates lifespan and resistance to oxidative stress in mice. Nature. 2003 Jan 9;421(6919):182-7.
  • Bluher M et al. Extended longevity in mice lacking the insulin receptor in adipose tissue. Science. 2003 Jan 24;299(5606):572-4.


Jonathan Pollack

Chipping away theories of metastasis

  • Ramaswamy S et al. A molecular signature of metastasis in primary solid tumors. Nat Genet . 2003 Jan;33(1):49-54.


Gene Hoyme

Of hedgehogs and alcohol: Evidence that the phenotype of fetal alcohol syndrome is modulated by sonic hedgehog

  • Ahlgren SC et al. Sonic hedgehog rescues cranial neural crest from cell death induced by ethanol exposure. Proc Natl Acad Sci USA. 2002;99:10476-81.
  • Cohen MM et al. Teratogenesis of holoprosencephaly. Am J Med Genet. 2002;109(1): 1-15.


Melanie Manning

Closing in on pathogenesis of hereditary hemorrhagic telangiectasia (HHT): a new mouse model for HHT type 2

  • Srinivasan S et al. A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2. Hum Mol Genet. 2003;12(5):473-82.
  • Marchuk et al. Vascular morphogenesis: tales of two syndromes. Hum Mol Genet. 2003;12(Suppl 1):R97-R112.
  • Satomi et al. Cerebral vascular abnormalities in a murine model of hereditary hemorrhagic telangiectasia. Stroke. 2003;34:783-89.


Lars Bullinger

Chipping away at the array of possibilities in mantle cell lymphoma

  • Rosenwald A et al. The proliferation gene expression signature is a quantitative integrator of oncogenic events that predicts survival in mantle cell lymphoma. Cancer Cell 2003 Feb;3(2):185-97.


Margaret Adam

Fall of the house of Usher: Identifying the gene responsible for Usher Syndrome Type I G with the help of the Jackson shaker mouse

  • Weil D et al. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet 2003;12(5):463-471.
  • Kikkawa Y et al. Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice. Hum Mol Genet 2003;12(5):453-461.


Anne-Renee Hartman

Loss of imprinting in cancer

  • Cui H et al. Loss of IGF2 imprinting: A potential marker of colorectal cancer risk. Science. 2003;299:1753-5.
  • Cui H et al. Loss of imprinting in colorectal cancer linked to hypomethylation of H19 and IGF2. Cancer Res. 2002;62;6442-6.


Hugh McDevitt

APECED (Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dysplasia)

  • Peterson P et al. APECED: a monogenic autoimmune disease providing new clues to self-tolerance. Immunol Today. 1998;19(9):384-6.
  • Bjorses P et al. Gene defect behind APECED: a new clue to autoimmunity. Hum Mol Genet. 1998;7(10):1547-53.
  • Halonen M et al. AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype. J Clin Endocrinol Metab. 2002;87(6):2568-74.


Mohammed Albalwi

What Syndrome ? Ellis-van Creveld

What gene? EVC

  • Ruiz-Perez VL et al. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. Am J Hum Genet .2003 Mar;72(3):728-32.
  • Galdzicka M et al. A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. Mol Genet Metab. 2002 Dec;77(4):291-5.


Feng Ding

RNA can be fixed too! Discovery of the RNA damage repair mechanism

  • Begley TJ et al. Molecular biology: A fix for RNA. Nature. 2003 Feb 20;421(6925):795-6.
  • Aas PA et al. Human and bacterial oxidative demethylases repair alkylation damage in both RNA and DNA. Nature. 2003 Feb 20;421(6925):859-63.


Jingly Fung Weier

Unraveling the mystery of male aggressiveness

  • Caspi A et al. Role of genotype in the cycle of violence in maltreated children. Science. 2002 Aug 2;297(5582):851-4.
  • Shih JC et al. Monoamine oxidase in neuropsychiatry and behavior. Am J Hum Genet. 1999 Sep;65(3):593-8.


Tina Cowan

Short-chain ccyl-CoA dehydrogenase deficiency: When is a disease really a disease?

  • Nguyen TV et al. Purification and characterization of two polymorphic variants of short chain acyl-CoA dehydrogenase reveal reduction of catalytic activity and stability of the Gly185Ser enzyme. Biochemistry 2002 Sep 17;41(37):11126-33.
  • Corydon MJ et al. Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res. 2001 Jan;49(1):18-23.


Iris Schrijver

S'more on SMA: Primary pathology, prognostic predictions, and quantitative testing of the survival motor neuron genes.

  • Fan et al. Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development. Hum Mol Genet 2002;11(14):1605-14.
  • Feldkötter et al. Quantitative analyses of SMN1 and SMN2 based on real-time lightcycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 2002;70:358-68.


Ruth Lin

Rubinstein-Taybi Syndrome: Broad toes, broad thumbs and zinc fingers

  • Kalkhoven E et al. Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. Hum Mol Genet 2003;12(4):441-450.
  • Kalkhoven E et al. The PHD type zinc finger is an integral part of the CBP acetyltransferase domain. Mol Cell Biol 2002;22(7):1961-1970.
  • Murata T et al. Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome. Hum Mol Genet 2001;10(10):1071-1076.


Renata Gallagher

Battle of the ribonucleoproteins; controversies in the pathogenesis of dyskeratosis congenita

  • Meier U. Dissecting dyskeratosis. Nat Genet. 2003;33(2):116-7.
  • Vulliamy T et al. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 2001; 413:432-4.
  • Ruggero D et al. Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification. Science 2003;299:259-62.


Louanne Hudgins

Connexin 26 mutations and human disease

  • Bruzzone R et al. Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness. FEBS Lett 2003 Jan;533(1):79-88.
  • Richard G et al. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet 2002 May;70(5):1341-8.


Tena Cherry

NSD1 mutations in overgrowth syndromes

  • Douglas J et al. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. Am J Hum Genet 2003; 72:132-143.
  • Kurotaki N et al. Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 2002;30:365-366.


Laura Lazzeroni

Stories told by linkage disequilibrium patterns in candidate genes

  • Rubio et al. Genetic dissection of the human leukocyte antigen region by use of haplotypes of Tasmanians with multiple sclerosis.  Am J Hum Genet 2002;70:1125-1137.
  • Bonnen et al. Haplotype and linkage disequilibrium architecture for human-cancer associated genes.  Genome Res 2002;12:1846-1853.
  • Menashe et al. Population differences in haplotype structure within a human olfactory receptor gene cluster. Hum Mol Genet 2002;11:1381-1390.


Ching Wang

Mechanism of DNA differential methylation

  • Robert MF et al. DNMT1 is required to maintain CpG methylation and aberrant gene silencing in human cancer cells. Nat Genet 2003;33(1):61-65.
  • Schoenherr CJ et al. CTCF maintains differential methylation at the Igf2/H19 locus. Nat Genet 2003;33:66-69.


Anne Villeneuve

Small RNAs, histone modification and genome rearrangement in tetrahymena

  • Mochizuki K et al. Analysis of a piwi-related gene implicates small RNAs in genome rearrangement in tetrahymena. Cell 2002 Sep 20;110(6):689-99.
  • Taverna SD et al. Methylation of histone h3 at lysine 9 targets programmed DNA elimination in tetrahymena. Cell 2002 Sep 20;110(6):701-11.
  • Dernburg AF et al. A chromosome RNAissance. Cell 2002 Oct 18;111(2):159-62.


Joachim Hallmayer

Epigenetics and IVF - is there a reason to worry?

  • DeBaun MR et al. Association of In Vitro Fertilization with Beckwith-Wiedemann Syndrome and Epigenetic Alterations of LIT1 and H19. Am J Hum Genet 2002 Nov 18;72(1).
  • Ørstavik KH et al. Another Case of Imprinting Defect in a Girl with Angelman Syndrome Who Was Conceived by Intracytoplasmic Sperm Injection. Am J Hum Genet 2002 Nov 13; 72:000.
  • Cox GF et al. Intracytoplasmic sperm injection may increase the risk of imprinting defects. Am J Hum Genet 2002 Jul;71(1):162-4.


Gregg Enns

New diagnostic techniques for mitochondrial disorders

  • Lin TK et al. Specific modification of mitochondrial protein thiols in response to oxidative stress. J Biol Chem 2002;277:17048-17056.
  • Rabilloud T et al. Comparative proteomics as a new tool for exploring human mitochondrial tRNA disorders. Biochemistry 2002;41:144-150.
  • Hanson BJ et al. An immunocytochemical approach to detection of mitochondrial disorders. J Histochem Cytochem 2002;50:1281-1288.



Jim Ford

Fanconi Anemia and DNA Repair

  • Taniguchi T et al. S-phase-specific interaction of the Fanconi anemia protein, FANCD2, with BRCA1 and RAD51. Blood 2002 Oct 1;100(7):2414-20.
  • Howlett NG et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science 2002 Jul 26;297(5581):606-9.
  • Stewart G et al. The two faces of BRCA2, a FANCtastic discovery. Mol Cell 2002 Jul;10(1):2-4.
  • Taniguchi T et al. Convergence of the fanconi anemia and ataxia telangiectasia signaling pathways. Cell 2002 May 17;109(4):459-72.


Jeff Traynor

Take your folic acid: The stork is coming.

  • Brody LC et al. A Polymorphism, R653Q, in the Trifunctional Enzyme Methylenetetrahydrofolate Dehydrogenase/Methenyltetrahydrofolate Cyclohydrolase/Formyltetrahydrofolate Synthetase Is a Maternal Genetic Risk Factor for Neural Tube Defects: Report of the Birth Defects Research Group. Am J Hum Genet. 2002;71(5):1207-15.
  • Doolin MT et al. Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida. Am J Hum Genet. 2002;71(5):1222-6.


Devin Absher

Huntington's disease and polyglutamine toxicity

  • Kim S et al. Polyglutamine protein aggregates are dynamic. Nat Cell Biol. 2002;4:826-31.
  • Panov AV et al. Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines. Nat Neurosci. 2002;5:731-6.
  • Sipione S et al. Early transcriptional profiles in huntingtin-inducible striatal cells by microarray analyses. Hum Mol Genet. 2002;11:1953-65.


Sibyl Munson

Malformation of hair, teeth and exocrine glands: New insights into hypohidrotic ectodermal dysplasia and its reversal in a TNF Superfamily Conference mouse model

  • Headon DJ et al. Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature. 2001; 414:913-6.
  • Yan M et al. Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors. Science. 2000; 290:523-7.
  • Laurikkala J et al. Regulation of hair follicle development by the TNF signal ectodysplasin and its receptor Edar. Development. 2002;129:2541-53.
  • Cui CY et al. EDA targets revealed by skin gene expression profiles of wild-type, Tabby and Tabby EDA-A1 transgenic mice. Hum Mol Genet. 2002;11:1763-73.


Helen Kwan

A possible treatment for ischemic brain damage

  • Aarts M et al.Treatment of ischemic brain damage by perturbing NMDA receptor- PSD-95 protein interactions. Science. 2002;298(5594):846-50.
  • Cohen-Cory S. The developing synapse: construction and modulation of synaptic structures and circuits. Science. 2002;298(5594):770-6.


Unsal Kuscuoglu

Apoptosis hit the eye: Excessive exposure to light induces retinal degeneration

  • Hao W et al. Evidence for two apoptotic pathways in light-induced retinal degeneration. Nat Genet. 2002;32: 254-60.
  • Jacobson SG et al. Blinded by the light. Nat Genet. 2002;32: 215-16.


Yvonne Thorstenson

Splicing consequences of single base pair mutations in coding sequences

  • Cartegni L et al. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat Genet. 2002;30(4):377-84.
  • Fackenthal JD et al. BRCA2 T2722R is a deleterious allele that causes exon skipping. Am J Hum Genet. 2002;71(3):625-31.


Anita Beck

Bridging the gap in clefting knowledge

  • Kondo S et. al. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet 2002 Oct;32:285-9.
  • Muenke M. The pit, the cleft and the web. Nat Genet 2002 Oct;32:219-220.


Olivera Mitrasinovich

Prospects and setbacks for amyloid-beta immunization therapy for Alzheimer's disease.

  • Schenk D. Amyloid-beta immunotherapy for Alzheimer's disease: the end of the beginning. Nature Review Neurosci. 2002 Oct;3(10):824-8.
  • Bard F. et al. Peripherally administered antibodies against amyloid beta-peptide enter the central nervous system and reduce pathology in a mouse model of Alzheimer disease. Nat Med.2000;6:916-9.


Lee Kozar

FOXP2 and Language Development or Why King Kong Couldn't Talk Himself Out of Trouble

  • Lai CS et al. A forkhead-domain gene is mutated in severe speech and language disorder. Nature. 2001; 413 (6855):519-23.
  • Enard W et al. Molecular evolution of FOXP2, a gene involved in speech and language. Nature. 2002 Aug 22;418(6900):869-72 DOI:10.1038/nature01025 Letters to Nature.
  • Enard W et al. Molecular evolution of FOXP2, a gene involved in speech and language. Nature advance online publication DOI:10.1038/nature01025 Letters to Nature.


Uta Francke

A CLIP in the Brain: First mouse model that provides insight into Williams syndrome

  • Hoogenraad CC et al. Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice. Nat Genet. 2002 Sep;32(1):116-27.


Caroline Buckway

You Can't Blame It All on Your Mother: New Insights into the Mitochondrial Genome

  • Schwartz M, Vissing J.  Paternal inheritance of mitochondrial DNA. N Engl J Med. 2002 Aug 22;347(8):576-80.
  • Williams RS. Another surprise from the mitochondrial genome.  N Engl J Med. 2002 Aug 22;347(8):609-12.


Ruth Lin

PTPN11 Mutations: Noonan syndrome camouflaged by LEOPARD spots?

  • Tartaglia M et al. PTPN11 Mutations in Noonan Syndrome: Molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet. 2002; 70:1555-1563.
  • Digilio MC, et al. Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 gene. Am J Hum Genet. 2002; 71(2) [epub ahead of print].
  • Tartaglia M et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet. 2001; 29:465-468.


Doug Vollrath

Photoentrainment of Circadian Rhythms: There's more than meets the eye

  • Hattar S et al. Melanopsin-containing retinal ganglion cells: architecture, projections, and intrinsic photosensitivity. Science. 2002; 295:1065-70.
  • Freedman MS et al. Regulation of mammalian circadian behavior by non-rod, non-cone, ocular photoreceptors. Science. 1999; 284:502-4.


Jonathan Pollack

Taking advantage of nonsense -mediated mRNA decay

  • Noensie EN et al. A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition. Nat Biotechnol. 2001; 19:434-439.
  • Culbertson MR. Sense versus nonsense in DNA diagnostics. Nat Biotechnol. 2001; 19:413-414.


Roel Nusse

Cycles of Destruction

  • Moberg KH et al. Archipelago regulates Cyclin E levels in Drosophila and is mutated in human cancer cell lines. Nature. 2001; 413:311-316.
  • Strohmaier H et al. Human F-box protein hCdc4 targets cyclin E for proteolysis and is mutated in a breast cancer cell line. Nature. 2001; 413:316-322.
  • Schwab M et al. Cell cycle. Archipelago of destruction. Nature. 2001; 413:268-269.


Hugh McDevitt

Susumu Ohno revisited

  • Abi-Rached L. et al. Evidence of en bloc duplication in vertebrate genomes. Nat Genet. 2002; 31:100-105.
  • Kasahara M. et al. Chromosomal duplication and the emergence of the adaptive immune system. Trends Genet. 1997;13:90-92.


Melanie Manning

Fanconi anemia and telomeres: looking to the end for answers

  • Callen E. et al. Breaks at telomeres and TRF2-independent end fusions in Fanconi anemia. Hum Mol Genet. 2002; 11:439-44.
  • Adelfalk C. et al. Accelerated telomere shortening in Fanconi anemia fibroblasts--a longitudinal study. FEBS Lett. 2001; 506:22-26.
  • Hanson H. et al. Telomere shortening in Fanconi anaemia demonstrated by a direct FISH approach. Cytogenet Cell Genet. 2001; 93:203-206.


Hank Greely

Patents and genetics: The current status and its consequences

  • Jon F. Merz, et al. Diagnostic Testing Fails the Test: The Pitfalls of Patents Are Demonstrated by the Case of Haemochromatosis. Nature. 2002: 415:577-579.


Renata Gallagher

Small RNAs: From bugs to brains What are they doing?

  • Zhang A.,et al. (2002) The Sm-like Hfq protein increases OxyS RNA interaction with target mRNAs. Molecular Cell 9:11-22.
  • Moller T., et al. (2002) Hfq: a bacterial Sm-like protein that mediates RNA-RNA interaction. Molecular Cell 9:23-30.
  • Eddy S., (2002) Computational genomics of noncoding RNA genes. Cell 109:137-140.
  • Wassarman K., (2002) Small RNAs in bacteria: diverse regulators of gene expression in response to environmental changes. Cell 109:141-144.
  • Kiss T., (2002) Small nucleolar RNAs: an abundant group of noncoding RNAs with diverse cellular functions. Cell 109:145-148


Joachim Hallmayer


  • Gratacos, M., et al. (2001) A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders. Cell 106(3):367-379.
  • Pujana, M.A., et al. (2001) Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26. Genome Res 11(1):98-111.
  • Pujana, M.A., et al. (2002) Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons. Eur J Hum Genet 10(1):26-35.


Anne-Renee Hartman

Misbehaving missense mutations in ATM; implications for breast cancer TOP OF PAGE

  • Scott, S.P., et al. (2002) Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer. Proc Natl Acad Sci USA 99(2):925-930.
  • Chenevix-Trench G., et al. (2002) Dominant negative ATM mutations in breast cancer families. J Natl Cancer Inst 94(3):205-215.


Laura Lazzeroni

Are haplotypes haphazard?

  • Patil, N., et al. (2001)  Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21. Science 294:1719-1723.
  • Reich, D.E., et al. (2001) Linkage disequilibrium in the human genome. Nature 411:199-204.
  • Stephens, J.C., et al. (2001) Haplotype variation and linkage disequilibrium in 313 human genes. Science  293:489-493.


Gil Chu

The signature of double-strand breaks during class switch recombination.

  • Chen, X et al. (2001).  Variable deletion and duplication at recombination junction ends: implication for staggered double-strand cleavage in class-switch recombination. PNAS 98:13860-13865.


Margaret Adam

Cataracts and anterior segment dysgenesis: Possible new role for MAF transcription factor.


Anita Beck

Are G quartets the answer to the fragile x question?

  • Brown V et al. Microarray Identification of FMRP-Associated Brain mRNAs and Altered mRNA Translational Profiles in Fragile X Syndrome. Cell. 2001 Nov 16;107(4):477-87.
  • Darnell JC et al. Fragile X Mental Retardation Protein Targets G Quartet mRNAs Important for Neuronal Function. Cell. 2001 Nov 16;107(4):489-99.
  • Zhang YQ et al. Drosophila Fragile X-Related Gene Regulates the MAP1B Homolog Futsch to Control Synaptic Structure and Function. Cell. 2001 Nov 30;107(5):591-603.


Louanne Hudgins

The role of HOXD gene cluster in limb development: from snypolydactyly resembling split hand/split foot malformation to monodactyly.

  • Goodman FR et al. (2002) A 117-kb Microdeletion Removing HOXD9-HOXD13 and EVX2 Causes Synpolydactyly. Am J Hum Genet  70:547-555.
  • Del Campo M et al. (1999) Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster. Am J Hum Genet  65:104-110.


Athena Cherry

MLL: A unique leukemia?

  • Armstrong, S.A., et al. (2002), MLL translocations specify a distinct gene expression profile that distinguishes a unique leukemia. Nature Genetics 30:41-47.


Michele Calos

Cre toxicity: How can a site-specific recombinase scramble chromosomes?

  • Schmidt, E.E et al. Illegitimate Cre-dependent chromosome rearrangements in transgenic mouse spermatids. PNAS 97, 13702-13707 (2000).
  • Silver, DP et al. Self-exicising retroviral vectors encoding the Cre recombinase overcome Cre-mediated cellular toxicity. Mol. Cell 8, 233-243 (2001).
  • Loonstra, A et al. Growth inhibition and DNA damage induced by Cre recombinase in mammalian cells. PNAS 98, 9202-9214 (2001) .
  • Pfeifer, A et al. Delivery of the Cre recombinaase by a self-deleting lentiviral vector: Efficient gene targeting in vivo. PNAS 98, 11450 -11455 (2001). 


Gene Hoyme

From marsupials to men: the role of ATRX in morphogenesis and malformation.

  • Gibbons RJ et al. Molecular-clinical spectrum of the ATR-X syndrome. Am J Med Genet 97(3):204-212, 2000.
  • Gibbons RJ et al. Mutations in ATRX encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation. Nature Genetics 24(4):368-371, 2000.
  • Pask A et al. The human sex-reversing ATRX gene has a homologue on the marsupial Y chromosome, ATRY: Implications for the evolution of mammalian sex determination. PNAS 97(24), 2000.


Anne Villeneuve

Small RNAs: how did they get there and what are they doing?

  • Sijen T et al. On the role of RNA amplification in dsRNA-triggered gene silencing. Cell 107:465-476, 2001.
  • Lagos-Quintana M et al. Identification of novel genes coding for small expressed RNAs. Science 294:853-858, 2001.
  • Nelson C et al. An abundant class of tiny RNAs with probable regulatory roles in Caenorhabditis elegans. Science 294:858-862, 2001.
  • Lee RC et al. An extensive class of small RNAs in Caenorhabditis elegans. Science 294:862-864, 2001.


Joanna Mountain

What does it mean to be 98% similar to a chimpanzee?

  • Gagneux P et al. Genetic differences between humans and great apes. Mol Phylogenet Evol 18:2-13, 2001.
  • Gagneux P et al. Proteomic comparison of human and great ape blood plasma reveals conserved glycosylation and differences in thyroid hormone metabolism. Am J Phys Anthropol 115:99-109, 2001.
  • Fujiyama A et al. Construction and analysis of a human-chimpanzee comparative clone map. Science 295:131-134, 2002.


Greg Enns

A tale of 2 genomes: Nuclear mutations and the mitochondrial dNTP pool in mtDNA depletion.

  • Mandel H et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nature Genetics 29:337-341, 2001.
  • Saada A et al. Mutant mitochonddrial thymidine kinase in mitochondrial DNA depletion myopathy. Nature Genetics 29:342-344, 2001.




Jim Ford

One-hit wonders: Haploinsufficiency and tumor suppressor genes.


Greg Barsh

Divining function from structure: What makes tubby mice fat.


Sibyl Munson

Type 1 diabetes: implications of the association of CTLA-4 with a protective allele. Is modulation of T lymphocyte costimulatory signals effective for disease prevention?


Eileen Furlong

Igf-1 and skeletal muscle regeneration.


Unsal Kuscuoglu

Life in the fast lane: Defective helicase-nuclease interaction leads to Werner syndrome.


Ruth Lin

Rieger syndrome: the phenotypic consequences resulting from mutations in the PITX2 homeobox gene.


Rick Myers

Analysis of a new gene family on human chromosome 16: Evidence for selection.


Helen Kwan

Isolation of mouse neural stem cell from adult brain.


Juliette Faraco

Hickory dickory dock: coupled outputs from the clock.


Jeff Traynor

Mythology and cyclopia (and holoprosencephaly).


Uta Francke

X-inactivation and imprinting in cloned mice.


Doug Vollrath



Melanie Manning

Xeroderma pigmentosum: An update on therapeutic approaches.


Hugh McDevitt

Parsing a polygenic disease.


Michele Calos

Shuffling viruses and exons.


Hank Greely

Genetic discrimination: realities, fears, and analysis.


Louanne Hudgins

The pleiotropic effects of p63 mutations in limb, craniofacial, and epithelial development. TOP OF PAGE


Tena Cherry

Possible mechanism for the recurrent t(11;22).


Roel Nusse

Night owls, morning larks and protein phosphorylation


Lisa McPerson

Imprinting of Igf2: The power of silencers.


Gil Chu

Lamarck's legacy: Somatic hypermutation and double-strand breaks.


Gene Hoyme

Metabolic malformations: Defects of cholesterol biosynthesis.


Dennis Ko

New insights from studies of Niemann Pick Type C, a neurodegenerative lipid storage disorder: Molecular function, a second gene, and ties to Hedgehog signaling.


Lee Kozar

The human genome.


James Ford

Microsatellite instability and colon cancer: Potential mechanisms for different behavior.


Anja Ehrhardt

Genetic approaches to cure diabetes mellitus type I.


Anne-Renee Hartman

BRCA1: Putative function and prognostic significance in breast cancer.


Anne Villeneuve

What is Ku doing at telomeres?


Licia Selleri

Going out on a limb: Fgf8 signalling and limb outgrowth.


Laura Lazzeroni

Free expression: Getting more from microarray data.




Jodeane Pringle

Preimplantation diagnosis for chromosome translocations.


Joanna Mountain

On the peopling of Europe: Is there finally a consensus?


Michael Olivier

All SNPs are equal, but some SNPs are more equal than others.


Min Fang

What's nemo got to do with genetic skin disorders?


Greg Enns

Mitochondrial gene therapy.


Neil Risch

Cancer in Gemini


Greg Barsh

Two homes for an orphan receptor.


Juliette Faraco

NIDDM: New snippits of understanding.


Gene Hoyme

Aarskog syndrome (Faciogenital dysplasia):  molecular correlates of clinical heterogeneity.


Richard Olney

Take your breath away: Central hypoventilation syndrome and Hirschsprung disease genes.


Athena Cherry

Modification in the inherent mode of allelic replication in lymphocytes of patients suffering from renal cell carcinoma.


Michael Olivier

Haplotypes and recombination: The major breakup . . .


Min Fang

Maintaining imprinting.


Licia Selleri

"A Hole in the Head": Loss of Function Mutations in MSX Homeobox Genes


Louanne Hudgins

Going out on a limb: ROR2 and distal limb development.


Lee Kozar

Mitotic misregulation and human aging.


Rick Myers

Suppression of toxic effects of long polyglutamine segments.


Sam Karlin

Human chromosome 22: A review and critique.


Karine Clément

Thrifty genes and expensive associations: PPARg in diabetes and obesity. TOP OF PAGE


Uta Francke

Transcriptional regulator ATRX: A step on the road from mutations to phenotype.


Anne Villeneuve

Checking up on germline immortality: a link between checkpoint control and telomere maintenance.


Vanessa Lemahieu

The role of DNA methyltransferase in normal development and disease: DNMT3B and ICF syndrome.


Giuseppe Passarino

Recombination in mitochondrial DNA?


Gil Chu

The G2 checkpoint and Li-Fraumeni Syndrome.


Joanna Mountain

Sexual selection caught in the act?


Greg Enns

Do mitochondrial mutations dim the fire of life?


Hugh McDevitt

Complexity in the MHC complex. TOP OF PAGE