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2010

   

DATE

SPEAKER

TOPICS
2010    
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.
2009    
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.
09/22/09

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
2008    
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
2007    
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.
2006    
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  

05/30/06

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

05/09/06

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

MMACHC and CblC

  • 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  

02/07/06

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.
2005    
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.
11/22/05

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.
06/21/05

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.
05/31/05

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

Mitochondrioma?

  • 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. ].

01/18/05

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.

01/11/05

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

2004

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.

 

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2/03/04 Laura Lazzeroni

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

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  • 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

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  • 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

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2003    
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.
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  • 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.
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11/25/03 Greg Enns

Is Cancer a Mitochondrial Disorder?

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11/18/03 Peter Nagy

Tales of Tails

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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.

10/07/03

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
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09/30/03

Uta Francke

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

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09/23/03

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.

06/17/03

Doug Vollrath

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

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06/10/03

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.

05/27/03

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.
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05/20/03

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.
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  • Satomi et al. Cerebral vascular abnormalities in a murine model of hereditary hemorrhagic telangiectasia. Stroke. 2003;34:783-89.

05/06/03

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.

04/29/03

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.

04/22/03

Anne-Renee Hartman

Loss of imprinting in cancer

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  • Cui H et al. Loss of imprinting in colorectal cancer linked to hypomethylation of H19 and IGF2. Cancer Res. 2002;62;6442-6.

04/15/03

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.
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04/08/03

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.

04/01/03

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.

03/25/03

Jingly Fung Weier

Unraveling the mystery of male aggressiveness

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  • Shih JC et al. Monoamine oxidase in neuropsychiatry and behavior. Am J Hum Genet. 1999 Sep;65(3):593-8.

03/18/03

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.

03/11/03

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.
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03/04/03

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.
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  • 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.

02/25/03

Renata Gallagher

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

  • Meier U. Dissecting dyskeratosis. Nat Genet. 2003;33(2):116-7.
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  • Ruggero D et al. Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification. Science 2003;299:259-62.

02/18/03

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.

02/11/03

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.

02/04/03

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.

01/28/03

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.

01/21/03

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.

01/14/03

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.

01/07/03

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.

2002

12/17/02

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.

12/10/02

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.

12/3/02

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.

11/26/02

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.

11/19/02

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.

11/12/02

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.

11/5/02

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.

10/29/02

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.

10/22/02

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.

10/8/02

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.

10/01/02

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.

9/24/02

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.

6/25/02

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.

6/18/02

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.

6/11/02

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.

6/4/02

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.

5/28/02

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.

5/21/02

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.

5/14/02

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.

5/7/02

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

4/23/02

Joachim Hallmayer

wireDUP

  • 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.

3/26/02

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.

3/19/02

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.

3/12/02

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.

3/5/02

Margaret Adam

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

2/26/02

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.

2/19/02

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.

2/12/02

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.

2/5/02

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). 

1/29/02

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.

1/22/02

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.

1/15/02

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.

1/8/02

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.

2001

TOP OF PAGE

12/18/01

Jim Ford

One-hit wonders: Haploinsufficiency and tumor suppressor genes.

12/4/01

Greg Barsh

Divining function from structure: What makes tubby mice fat.

11/27/01

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?

11/20/01

Eileen Furlong

Igf-1 and skeletal muscle regeneration.

11/13/01

Unsal Kuscuoglu

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

11/6/01

Ruth Lin

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

10/30/01

Rick Myers

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

10/23/01

Helen Kwan

Isolation of mouse neural stem cell from adult brain.

10/16/01

Juliette Faraco

Hickory dickory dock: coupled outputs from the clock.

10/2/01

Jeff Traynor

Mythology and cyclopia (and holoprosencephaly).

9/25/01

Uta Francke

X-inactivation and imprinting in cloned mice.

6/12/01

Doug Vollrath

TUNING IN TO THE GENETICS OF PITCH PERCEPTION (Try the distorted tunes test!)

6/5/01

Melanie Manning

Xeroderma pigmentosum: An update on therapeutic approaches.

5/15/01

Hugh McDevitt

Parsing a polygenic disease.

5/8/01

Michele Calos

Shuffling viruses and exons.

5/1/01

Hank Greely

Genetic discrimination: realities, fears, and analysis.

4/17/01

Louanne Hudgins

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

4/3/01

Tena Cherry

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

3/27/01

Roel Nusse

Night owls, morning larks and protein phosphorylation

3/20/01

Lisa McPerson

Imprinting of Igf2: The power of silencers.

3/13/01

Gil Chu

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

3/6/01

Gene Hoyme

Metabolic malformations: Defects of cholesterol biosynthesis.

2/27/01

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.

2/20/01

Lee Kozar

The human genome.

2/13/01

James Ford

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

2/6/01

Anja Ehrhardt

Genetic approaches to cure diabetes mellitus type I.

1/30/01

Anne-Renee Hartman

BRCA1: Putative function and prognostic significance in breast cancer.

1/23/01

Anne Villeneuve

What is Ku doing at telomeres?

1/16/01

Licia Selleri

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

1/9/01

Laura Lazzeroni

Free expression: Getting more from microarray data.

2000

TOP OF PAGE

12/19/00

Jodeane Pringle

Preimplantation diagnosis for chromosome translocations.

12/12/00

Joanna Mountain

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

11/28/00

Michael Olivier

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

11/7/00

Min Fang

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

10/31/00

Greg Enns

Mitochondrial gene therapy.

10/24/00

Neil Risch

Cancer in Gemini

10/17/00

Greg Barsh

Two homes for an orphan receptor.

10/10/00

Juliette Faraco

NIDDM: New snippits of understanding.

6/27/00

Gene Hoyme

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

6/20/00

Richard Olney

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

6/13/00

Athena Cherry

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

6/6/00

Michael Olivier

Haplotypes and recombination: The major breakup . . .

5/16/00

Min Fang

Maintaining imprinting.

5/9/00

Licia Selleri

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

4/25/00

Louanne Hudgins

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

4/11/00

Lee Kozar

Mitotic misregulation and human aging.

4/4/00

Rick Myers

Suppression of toxic effects of long polyglutamine segments.

3/28/00

Sam Karlin

Human chromosome 22: A review and critique.

3/21/00

Karine Clément

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

3/14/00

Uta Francke

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

3/7/00

Anne Villeneuve

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

2/29/00

Vanessa Lemahieu

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

2/22/00

Giuseppe Passarino

Recombination in mitochondrial DNA?

2/15/00

Gil Chu

The G2 checkpoint and Li-Fraumeni Syndrome.

2/1/00

Joanna Mountain

Sexual selection caught in the act?

1/25/00

Greg Enns

Do mitochondrial mutations dim the fire of life?

1/18/00

Hugh McDevitt

Complexity in the MHC complex. TOP OF PAGE