Tom Walsh

Summary

Affiliation: University of Washington
Country: USA

Publications

  1. ncbi request reprint Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer
    Tom Walsh
    Department of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195 7720, USA
    JAMA 295:1379-88. 2006
  2. pmc Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
    Tom Walsh
    Department of Medicine, University of Washington, Seattle, WA 98195, USA
    Proc Natl Acad Sci U S A 107:12629-33. 2010
  3. pmc Accurate and exact CNV identification from targeted high-throughput sequence data
    Alex S Nord
    Department of Genome Sciences, University of Washington, Seattle, 98195 7720, USA
    BMC Genomics 12:184. 2011
  4. ncbi request reprint Ten genes for inherited breast cancer
    Tom Walsh
    Department of Medicine, University of Washington, Seattle, Washington 98195, USA
    Cancer Cell 11:103-5. 2007
  5. pmc Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families
    Zippora Brownstein
    Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Genome Biol 12:R89. 2011
  6. pmc Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer
    Silvia Casadei
    Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington 98195, USA
    Cancer Res 71:2222-9. 2011
  7. pmc Characteristics of women with ovarian carcinoma who have BRCA1 and BRCA2 mutations not identified by clinical testing
    Barbara M Norquist
    Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Box 356460, University of Washington School of Medicine, Seattle, WA 98195, USA
    Gynecol Oncol 128:483-7. 2013
  8. pmc Loss of function germline mutations in RAD51D in women with ovarian carcinoma
    Anneka Wickramanayake
    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
  9. pmc Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome
    Sarah B Pierce
    Division of Medical Genetics, Department of Medicine, University of Washington, Seattle WA 98195, USA
    Am J Hum Genet 92:614-20. 2013
  10. pmc BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma
    Kathryn P Pennington
    Division of Gynecologic Oncology, University of Washington Medical Center, Seattle, Washington 98195 6460, USA
    Cancer 119:332-8. 2013

Detail Information

Publications31

  1. ncbi request reprint Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer
    Tom Walsh
    Department of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195 7720, USA
    JAMA 295:1379-88. 2006
    ..Furthermore, other breast cancer genes generally are not evaluated...
  2. pmc Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
    Tom 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...
  3. pmc Accurate and exact CNV identification from targeted high-throughput sequence data
    Alex 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...
  4. ncbi request reprint Ten genes for inherited breast cancer
    Tom 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...
  5. pmc Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families
    Zippora 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...
  6. pmc Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer
    Silvia 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...
  7. pmc Characteristics of women with ovarian carcinoma who have BRCA1 and BRCA2 mutations not identified by clinical testing
    Barbara M Norquist
    Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Box 356460, University of Washington School of Medicine, Seattle, WA 98195, USA
    Gynecol Oncol 128:483-7. 2013
    ..We sought to determine if clinically identified mutation carriers differed in clinical characteristics and outcomes from mutation carriers not identified during routine clinical care...
  8. pmc Loss of function germline mutations in RAD51D in women with ovarian carcinoma
    Anneka Wickramanayake
    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...
  9. pmc Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome
    Sarah B Pierce
    Division of Medical Genetics, Department of Medicine, University of Washington, Seattle WA 98195, USA
    Am J Hum Genet 92:614-20. 2013
    ....
  10. pmc BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma
    Kathryn P Pennington
    Division of Gynecologic Oncology, University of Washington Medical Center, Seattle, Washington 98195 6460, USA
    Cancer 119:332-8. 2013
    ..Uterine serous carcinoma (USC) is not recognized as part of any defined hereditary cancer syndrome, and its association with hereditary breast and ovarian carcinoma and Lynch syndrome are uncertain...
  11. pmc Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome
    Sarah 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...
  12. pmc Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51
    Tom Walsh
    Department of Medicine Medical Genetics, University of Washington, Seattle, WA 98195, USA
    Am J Hum Genet 87:101-9. 2010
    ....
  13. pmc Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing
    Tom 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...
  14. pmc Reduced transcript expression of genes affected by inherited and de novo CNVs in autism
    Alex 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...
  15. pmc Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia
    Caitlin Rippey
    Departments of Medicine and of Genome Sciences, University of Washington, Seattle, WA 98195, USA Electronic address
    Am J Hum Genet 93:697-710. 2013
    ....
  16. pmc Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network
    Suleyman Gulsuner
    Department of Medicine and Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
    Cell 154:518-29. 2013
    ..These results also support the feasibility of integrating genomic and transcriptome analyses to map critical neurodevelopmental processes in time and space in the brain. ..
  17. pmc A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
    Santhosh 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...
  18. pmc Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome
    Sarah B Pierce
    Department of Medicine, University of Washington, Seattle, WA 98195, USA
    Am J Hum Genet 87:282-8. 2010
    ....
  19. pmc ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing
    Colin 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...
  20. pmc Validation and implementation of targeted capture and sequencing for the detection of actionable mutation, copy number variation, and gene rearrangement in clinical cancer specimens
    Colin C Pritchard
    Department of Laboratory Medicine, University of Washington, Seattle, Washington Electronic address
    J Mol Diagn 16:56-67. 2014
    ..To best guide existing and emerging treatment regimens and facilitate integration of genomic testing with patient care, we developed a framework for data analysis, decision support, and reporting clinically actionable results...
  21. doi request reprint A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA
    Vanessa 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...
  22. pmc Methylation and protein expression of DNA repair genes: association with chemotherapy exposure and survival in sporadic ovarian and peritoneal carcinomas
    Elizabeth 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...
  23. pmc Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82
    Tom 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...
  24. doi request reprint A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencing
    Colin C Pritchard
    Department of Laboratory Medicine, University of Washington, Seattle, Washington, USA
    Genet Med 15:1004-7. 2013
    ..We report a 40-year-old woman with a clinical diagnosis of Cowden syndrome including Lhermitte-Duclos disease, who had a mosaic PTEN mutation detected by next-generation deep sequencing...
  25. ncbi request reprint Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
    Tom 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...
  26. ncbi request reprint Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population
    Avraham Shaag
    Department of Medicine Medical Genetics and Genome Sciences, University of Washington, Seattle, WA 98195 7720, USA
    Hum Mol Genet 14:555-63. 2005
    ....
  27. pmc Actionable, pathogenic incidental findings in 1,000 participants' exomes
    Michael O Dorschner
    Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA
    Am J Hum Genet 93:631-40. 2013
    ....
  28. pmc Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population
    Tom 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...
  29. pmc From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30
    Tom 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...
  30. pmc Strong association of de novo copy number mutations with autism
    Jonathan 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...
  31. pmc DBC2, a candidate for a tumor suppressor gene involved in breast cancer
    Masaaki 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...