Research Topics
Genomes and Genes | Tom WalshSummaryAffiliation: University of Washington Country: USA Publications
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Publications
Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancerTom Walsh
Department of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195-7720, USA
JAMA 295:1379-88. 2006..Effective methods for identifying these mutations should be made available to women at high risk...
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencingTom Walsh
Department of Medicine, University of Washington, Seattle, WA 98195, USA
Proc Natl Acad Sci U S A 107:12629-33. 2010..This approach enables widespread genetic testing and personalized risk assessment for breast and ovarian cancer...- Accurate and exact CNV identification from targeted high-throughput sequence dataAlex S Nord
Department of Genome Sciences, University of Washington, Seattle, 98195 7720, USA
BMC Genomics 12:184. 2011..However, methods for CNV detection from targeted enrichment are lacking. We present a method combining coverage with map information for the identification of deletions and duplications in targeted sequence data... - Ten genes for inherited breast cancerTom Walsh
Department of Medicine, University of Washington, Seattle, Washington 98195, USA
Cancer Cell 11:103-5. 2007..In addition, biallelic mutations in BRCA2, BRIP1, and PALB2 cause Fanconi anemia. The convergence of these genes in a shared role reveals underlying biology of these illnesses and suggests still other breast cancer genes... - Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern familiesZippora Brownstein
Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
Genome Biol 12:R89. 2011..Our subjects for genome analysis are Israeli Jewish and Palestinian Arab families with hearing loss that varies in mode of inheritance and severity... - Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancerSilvia Casadei
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington 98195, USA
Cancer Res 71:2222-9. 2011..Given this mutation prevalence and risk, consideration might be given to clinical testing of PALB2 by complete genomic sequencing for familial breast cancer patients with wild-type sequences at BRCA1 and BRCA2... - Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencingTom Walsh
Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA
Proc Natl Acad Sci U S A 108:18032-7. 2011..Clinical genetic testing is currently done gene by gene, with each test costing thousands of dollars. In contrast, massively parallel sequencing allows such testing for many genes simultaneously at low cost... - Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51Tom Walsh
Department of Medicine Medical Genetics, University of Washington, Seattle, WA 98195, USA
Am J Hum Genet 87:101-9. 2010.... - Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndromeSarah B Pierce
Department of Medicine Medical Genetics, University of Washington, Seattle, WA 98195, USA
Proc Natl Acad Sci U S A 108:6543-8. 2011..More generally, the relationship between HARS2 and Perrault syndrome illustrates how causality may be demonstrated for extremely rare inherited mutations in essential, highly conserved genes... - Reduced transcript expression of genes affected by inherited and de novo CNVs in autismAlex S Nord
Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
Eur J Hum Genet 19:727-31. 2011..These results suggest that for some genes affected by CNVs in autism, reduced transcript expression may be a mechanism of pathogenesis during neurodevelopment... - Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish populationAvraham Shaag
Department of Medicine Medical Genetics and Genome Sciences, University of Washington, Seattle, WA 98195 7720, USA
Hum Mol Genet 14:555-63. 2005.... - A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delaySanthosh Girirajan
Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA
Nat Genet 42:203-9. 2010..Analysis of other microdeletions with variable expressivity indicates that this two-hit model might be more generally applicable to neuropsychiatric disease... 
Loss of function germline mutations in RAD51D in women with ovarian carcinomaAnneka Wickramanyake
Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, University of Washington School of Medicine, Seattle, WA 98195, USA
Gynecol Oncol 127:552-5. 2012..We aimed to extend these results to ovarian carcinoma in the general population...- Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault SyndromeSarah B Pierce
Department of Medicine, University of Washington, Seattle, WA 98195, USA
Am J Hum Genet 87:282-8. 2010.... - A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIAVanessa L Walsh
Department of Medicine, University of Washington, Seattle, WA 98195 7720, USA
Mamm Genome 22:170-7. 2011..Vestibular function is normal. Outer hair cells of Myo3a(KI/KI) mice degenerate with age in a pattern consistent with their progressive hearing loss... - Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian populationTom Walsh
Department of Medicine, University of Washington, Seattle, WA, USA
Hum Genomics 2:203-11. 2006..We also conclude that the same genes are responsible for hearing loss in this population as elsewhere, so that gene discovery in these families informs the genetics of hearing loss worldwide... - ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencingColin C Pritchard
Department of Laboratory Medicine, University of Washington, 1959 NE Pacific St, Seattle, WA 98195, USA
J Mol Diagn 14:357-66. 2012..ColoSeq offers a powerful, cost-effective means of genetic testing for Lynch and polyposis syndromes that eliminates the need for stepwise testing and multiple follow-up clinical visits... - Methylation and protein expression of DNA repair genes: association with chemotherapy exposure and survival in sporadic ovarian and peritoneal carcinomasElizabeth M Swisher
Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, University of Washington School of Medicine, Seattle, WA 98195, USA
Mol Cancer 8:48. 2009..Additionally, we assessed whether promoter methylation of BRCA1, MLH1 or FANCF influenced response to chemotherapy or explained alterations in protein expression after chemotherapy exposure... - Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82Tom Walsh
Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA
Am J Hum Genet 87:90-4. 2010..Identification of GPSM2 as essential to the development of normal hearing suggests dysregulation of cell polarity as a mechanism underlying hearing loss... - Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophreniaTom Walsh
Department of Medicine, University of Washington, Seattle, WA 98195, USA
Science 320:539-43. 2008..These results suggest that multiple, individually rare mutations altering genes in neurodevelopmental pathways contribute to schizophrenia... - From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30Tom Walsh
Department of Medicine, University of Washington, Seattle, WA 98195 7720, USA
Proc Natl Acad Sci U S A 99:7518-23. 2002..The involvement of homologous class III myosins in both Drosophila vision and human hearing is an evolutionary link between these sensory systems... - Strong association of de novo copy number mutations with autismJonathan Sebat
Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, NY 11724, USA
Science 316:445-9. 2007..Affected genomic regions were highly heterogeneous and included mutations of single genes. These findings establish de novo germline mutation as a more significant risk factor for ASD than previously recognized... - DBC2, a candidate for a tumor suppressor gene involved in breast cancerMasaaki Hamaguchi
Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA
Proc Natl Acad Sci U S A 99:13647-52. 2002..By contrast, expression of a somatic mutant discovered in a breast cancer specimen does not suppress the growth of breast cancer cells...