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Tomas Walsh, M.D.


Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Baxter SK, Gulsuner S, Hagin D, Torgerson TR, Walsh T. Revisiting Genetic Testing for Patients with Negative Results: IPEX and FOXP3. J Clin Immunol. 2022 May 27. PMID: 35624357.
    Citations:    Fields:    
  2. Felix GES, Guindalini RSC, Zheng Y, Walsh T, Sveen E, Lopes TMM, Côrtes J, Zhang J, Carôzo P, Santos I, Bonfim TF, Garicochea B, Toralles MBP, Meyer R, Netto EM, Abe-Sandes K, King MC, de Oliveira Nascimento IL, Olopade OI. Mutational spectrum of breast cancer susceptibility genes among women ascertained in a cancer risk clinic in Northeast Brazil. Breast Cancer Res Treat. 2022 Jun; 193(2):485-494. PMID: 35353237; PMCID: PMC9090684.
    Citations:    Fields:    Translation:Humans
  3. Carlson RJ, Quesnel A, Wells D, Brownstein Z, Gilony D, Gulsuner S, Leppig KA, Avraham KB, King MC, Walsh T, Rubinstein J. Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder. Otol Neurotol. 2021 09 01; 42(8):e1143-e1151. PMID: 34049328; PMCID: PMC8486042.
    Citations:    Fields:    Translation:Humans
  4. Yechieli M, Gulsuner S, Ben-Pazi H, Fattal A, Aran A, Kuzminsky A, Sagi L, Guttman D, Schneebaum Sender N, Gross-Tsur V, Klopstock T, Walsh T, Renbaum P, Zeligson S, Shemer Meiri L, Lev D, Shmueli D, Blumkin L, Lahad A, King MC, Levy EL, Segel R. Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy. J Med Genet. 2022 08; 59(8):759-767. PMID: 34321325.
    Citations: 1     Fields:    Translation:Humans
  5. Miller DE, Sulovari A, Wang T, Loucks H, Hoekzema K, Munson KM, Lewis AP, Fuerte EPA, Paschal CR, Walsh T, Thies J, Bennett JT, Glass I, Dipple KM, Patterson K, Bonkowski ES, Nelson Z, Squire A, Sikes M, Beckman E, Bennett RL, Earl D, Lee W, Allikmets R, Perlman SJ, Chow P, Hing AV, Wenger TL, Adam MP, Sun A, Lam C, Chang I, Zou X, Austin SL, Huggins E, Safi A, Iyengar AK, Reddy TE, Majoros WH, Allen AS, Crawford GE, Kishnani PS, King MC, Cherry T, Chong JX, Bamshad MJ, Nickerson DA, Mefford HC, Doherty D, Eichler EE. Targeted long-read sequencing identifies missing disease-causing variation. Am J Hum Genet. 2021 08 05; 108(8):1436-1449. PMID: 34216551; PMCID: PMC8387463.
    Citations: 12     Fields:    Translation:Humans
  6. Baxter SK, Walsh T, Casadei S, Eckert MM, Allenspach EJ, Hagin D, Segundo G, Lee MK, Gulsuner S, Shirts BH, Sullivan KE, Keller MD, Torgerson TR, King MC. Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management. J Allergy Clin Immunol. 2022 01; 149(1):327-339. PMID: 33864888; PMCID: PMC8526646.
    Citations: 2     Fields:    Translation:Humans
  7. Kalra M, Tong Y, Jones DR, Walsh T, Danso MA, Ma CX, Silverman P, King MC, Badve SS, Perkins SM, Miller KD. Cisplatin +/- rucaparib after preoperative chemotherapy in patients with triple-negative or BRCA mutated breast cancer. NPJ Breast Cancer. 2021 Mar 22; 7(1):29. PMID: 33753748.
    Citations: 4     
  8. Feurstein S, Churpek JE, Walsh T, Keel S, Hakkarainen M, Schroeder T, Germing U, Geyh S, Heuser M, Thol F, Pohlkamp C, Haferlach T, Gao J, Owen C, Goehring G, Schlegelberger B, Verma D, Krause DS, Gao G, Cronin T, Gulsuner S, Lee M, Pritchard CC, Subramanian HP, Del Gaudio D, Li Z, Das S, Kilpivaara O, Wartiovaara-Kautto U, Wang ES, Griffiths EA, Döhner K, Döhner H, King MC, Godley LA. Germline variants drive myelodysplastic syndrome in young adults. Leukemia. 2021 08; 35(8):2439-2444. PMID: 33510405; PMCID: PMC8725861.
    Citations: 5     Fields:    Translation:Humans
  9. Walsh T, Gulsuner S, Lee MK, Troester MA, Olshan AF, Earp HS, Perou CM, King MC. Inherited predisposition to breast cancer in the Carolina Breast Cancer Study. NPJ Breast Cancer. 2021 Jan 21; 7(1):6. PMID: 33479248.
    Citations: 2     
  10. Walsh T, Casadei S, Munson KM, Eng M, Mandell JB, Gulsuner S, King MC. CRISPR-Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes. J Med Genet. 2021 12; 58(12):850-852. PMID: 33060287; PMCID: PMC8046837.
    Citations: 6     Fields:    Translation:HumansCells
  11. Feurstein S, Adegunsoye A, Mojsilovic D, Vij R, West DePersia AH, Rajagopal PS, Osman A, Collins RH, Kim RH, Gore SD, Greenberg P, Godley LA, Li Z, Del Gaudio D, Subramanian HP, Das S, Walsh T, Gulsuner S, Segal JP, Husain AN, Gurbuxani S, King MC, Strek ME, Churpek JE. Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations. Blood Adv. 2020 10 13; 4(19):4873-4886. PMID: 33035329.
    Citations: 6     Fields:    Translation:Cells
  12. Bodily WR, Shirts BH, Walsh T, Gulsuner S, King MC, Parker A, Roosan M, Piccolo SR. Effects of germline and somatic events in candidate BRCA-like genes on breast-tumor signatures. PLoS One. 2020; 15(9):e0239197. PMID: 32997669.
    Citations: 5     Fields:    Translation:HumansCells
  13. Brownstein Z, Gulsuner S, Walsh T, Martins FTA, Taiber S, Isakov O, Lee MK, Bordeynik-Cohen M, Birkan M, Chang W, Casadei S, Danial-Farran N, Abu-Rayyan A, Carlson R, Kamal L, Arnthórsson AÖ, Sokolov M, Gilony D, Lipschitz N, Frydman M, Davidov B, Macarov M, Sagi M, Vinkler C, Poran H, Sharony R, Samra N, Zvi N, Baris-Feldman H, Singer A, Handzel O, Hertzano R, Ali-Naffaa D, Ruhrman-Shahar N, Madgar O, Sofrin-Drucker E, Peleg A, Khayat M, Shohat M, Basel-Salmon L, Pras E, Lev D, Wolf M, Steingrimsson E, Shomron N, Kelley MW, Kanaan MN, Allon-Shalev S, King MC, Avraham KB. Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1. Clin Genet. 2020 10; 98(4):353-364. PMID: 33111345.
    Citations: 6     Fields:    Translation:Humans
  14. Abu Rayyan A, Kamal L, Casadei S, Brownstein Z, Zahdeh F, Shahin H, Canavati C, Dweik D, Jaraysa T, Rabie G, Carlson RJ, Gulsuner S, Lee MK, Avraham KB, Walsh T, King MC, Kanaan MN. Genomic analysis of inherited hearing loss in the Palestinian population. Proc Natl Acad Sci U S A. 2020 08 18; 117(33):20070-20076. PMID: 32747562.
    Citations: 10     Fields:    Translation:Humans
  15. Segel R, Aran A, Gulsuner S, Nakamura H, Rosen T, Walsh T, Denda H, Zeligson S, Eto K, Beeri R, Okai H, King MC, Levy-Lahad E, Funato K, Renbaum P. A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures. Neurogenetics. 2020 10; 21(4):259-267. PMID: 32462292.
    Citations: 3     Fields:    Translation:HumansCells
  16. Dines JN, Shirts BH, Slavin TP, Walsh T, King MC, Fowler DM, Pritchard CC. Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots". Genet Med. 2020 05; 22(5):825-830. PMID: 31911673; PMCID: PMC7200594.
    Citations: 10     Fields:    Translation:Humans
  17. Casadei S, Gulsuner S, Shirts BH, Mandell JB, Kortbawi HM, Norquist BS, Swisher EM, Lee MK, Goldberg Y, O'Connor R, Tan Z, Pritchard CC, King MC, Walsh T. Characterization of splice-altering mutations in inherited predisposition to cancer. Proc Natl Acad Sci U S A. 2019 Dec 16. PMID: 31843900; PMCID: PMC6936554.
    Citations: 12     Fields:    
  18. Lieberman S, Beeri R, Walsh T, Schechter M, Keret D, Half E, Gulsuner S, Tomer A, Jacob H, Cohen S, Basel-Salmon L, Mansur M, Berger R, Katz LH, Golomb E, Peretz T, Levy Z, Kedar I, King MC, Levy-Lahad E, Goldberg Y. Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A. Clin Transl Gastroenterol. 2019 07; 10(7):e00054. PMID: 31259752.
    Citations: 2     Fields:    Translation:Humans
  19. Hassan R, Morrow B, Thomas A, Walsh T, Lee MK, Gulsuner S, Gadiraju M, Panou V, Gao S, Mian I, Khan J, Raffeld M, Patel S, Xi L, Wei JS, Hesdorffer M, Zhang J, Calzone K, Desai A, Padiernos E, Alewine C, Schrump DS, Steinberg SM, Kindler HL, King MC, Churpek JE. Inherited predisposition to malignant mesothelioma and overall survival following platinum chemotherapy. Proc Natl Acad Sci U S A. 2019 04 30; 116(18):9008-9013. PMID: 30975761.
    Citations: 42     Fields:    Translation:HumansCells
  20. Seo A, Gulsuner S, Pierce S, Ben-Harosh M, Shalev H, Walsh T, Krasnov T, Dgany O, Doulatov S, Tamary H, Shimamura A, King MC. Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE). Hum Mol Genet. 2019 01 01; 28(1):133-142. PMID: 30247636; PMCID: PMC6298239.
    Citations: 13     Fields:    Translation:Humans
  21. Weinberg-Shukron A, Rachmiel M, Renbaum P, Gulsuner S, Walsh T, Lobel O, Dreifuss A, Ben-Moshe A, Zeligson S, Segel R, Shore T, Kalifa R, Goldberg M, King MC, Gerlitz O, Levy-Lahad E, Zangen D. Essential Role of BRCA2 in Ovarian Development and Function. N Engl J Med. 2018 09 13; 379(11):1042-1049. PMID: 30207912; PMCID: PMC6230262.
    Citations: 28     Fields:    Translation:HumansAnimalsCells
  22. Guindalini RSC, Zheng Y, Abe H, Whitaker K, Yoshimatsu TF, Walsh T, Schacht D, Kulkarni K, Sheth D, Verp MS, Bradbury AR, Churpek J, Obeid E, Mueller J, Khramtsova G, Liu F, Raoul A, Cao H, Romero IL, Hong S, Livingston R, Jaskowiak N, Wang X, Debiasi M, Pritchard CC, King MC, Karczmar G, Newstead GM, Huo D, Olopade OI. Intensive Surveillance with Biannual Dynamic Contrast-Enhanced Magnetic Resonance Imaging Downstages Breast Cancer in BRCA1 Mutation Carriers. Clin Cancer Res. 2019 03 15; 25(6):1786-1794. PMID: 30154229; PMCID: PMC6395536.
    Citations: 13     Fields:    Translation:HumansPHPublic Health
  23. Danial-Farran N, Brownstein Z, Gulsuner S, Tammer L, Khayat M, Aleme O, Chervinsky E, Zoubi OA, Walsh T, Ast G, King MC, Avraham KB, Shalev SA. Genetics of hearing loss in the Arab population of Northern Israel. Eur J Hum Genet. 2018 12; 26(12):1840-1847. PMID: 30139988; PMCID: PMC6244407.
    Citations: 14     Fields:    Translation:HumansCells
  24. Zheng Y, Walsh T, Gulsuner S, Casadei S, Lee MK, Ogundiran TO, Ademola A, Falusi AG, Adebamowo CA, Oluwasola AO, Adeoye A, Odetunde A, Babalola CP, Ojengbede OA, Odedina S, Anetor I, Wang S, Huo D, Yoshimatsu TF, Zhang J, Felix GES, King MC, Olopade OI. Inherited Breast Cancer in Nigerian Women. J Clin Oncol. 2018 10 01; 36(28):2820-2825. PMID: 30130155; PMCID: PMC6161833.
    Citations: 33     Fields:    Translation:Humans
  25. Wehr C, Grotius K, Casadei S, Bleckmann D, Bode SFN, Frye BC, Seidl M, Gulsuner S, King MC, Percival MB, Pritchard CC, Walsh T, Wu D, Keel S, Salzer U. A novel disease-causing synonymous exonic mutation in GATA2 affecting RNA splicing. Blood. 2018 09 13; 132(11):1211-1215. PMID: 30030275; PMCID: PMC6137559.
    Citations: 10     Fields:    Translation:HumansCells
  26. King MC, Walsh T. Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2-Reply. JAMA Oncol. 2018 07 01; 4(7):1012-1013. PMID: 29800948.
    Citations: 1     Fields:    Translation:Humans
  27. Shirts BH, Konnick EQ, Upham S, Walsh T, Ranola JMO, Jacobson AL, King MC, Pearlman R, Hampel H, Pritchard CC. Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes. Am J Hum Genet. 2018 07 05; 103(1):19-29. PMID: 29887214.
    Citations: 14     Fields:    Translation:HumansCells
  28. Langer Y, Aran A, Gulsuner S, Abu Libdeh B, Renbaum P, Brunetti D, Teixeira PF, Walsh T, Zeligson S, Ruotolo R, Beeri R, Dweikat I, Shahrour M, Weinberg-Shukron A, Zahdeh F, Baruffini E, Glaser E, King MC, Levy-Lahad E, Zeviani M, Segel R. Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy. J Med Genet. 2018 09; 55(9):599-606. PMID: 29764912.
    Citations: 16     Fields:    Translation:HumansCells
  29. Seo A, Steinberg-Shemer O, Unal S, Casadei S, Walsh T, Gumruk F, Shalev S, Shimamura A, Akarsu NA, Tamary H, King MC. Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1. Proc Natl Acad Sci U S A. 2018 05 15; 115(20):5241-5246. PMID: 29712865.
    Citations: 16     Fields:    Translation:HumansCells
  30. Pierce SB, Stewart MD, Gulsuner S, Walsh T, Dhall A, McClellan JM, Klevit RE, King MC. De novo mutation in RING1 with epigenetic effects on neurodevelopment. Proc Natl Acad Sci U S A. 2018 02 13; 115(7):1558-1563. PMID: 29386386; PMCID: PMC5816211.
    Citations: 10     Fields:    Translation:HumansAnimalsCells
  31. Stewart MD, Zelin E, Dhall A, Walsh T, Upadhyay E, Corn JE, Chatterjee C, King MC, Klevit RE. BARD1 is necessary for ubiquitylation of nucleosomal histone H2A and for transcriptional regulation of estrogen metabolism genes. Proc Natl Acad Sci U S A. 2018 02 06; 115(6):1316-1321. PMID: 29367421; PMCID: PMC5819413.
    Citations: 25     Fields:    Translation:HumansCells
  32. Walsh T, Mandell JB, Norquist BM, Casadei S, Gulsuner S, Lee MK, King MC. Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women. JAMA Oncol. 2017 12 01; 3(12):1647-1653. PMID: 28727877.
    Citations: 19     Fields:    Translation:Humans
  33. Norquist BM, Brady MF, Harrell MI, Walsh T, Lee MK, Gulsuner S, Bernards SS, Casadei S, Burger RA, Tewari KS, Backes F, Mannel RS, Glaser G, Bailey C, Rubin S, Soper J, Lankes HA, Ramirez NC, King MC, Birrer MJ, Swisher EM. Mutations in Homologous Recombination Genes and Outcomes in Ovarian Carcinoma Patients in GOG 218: An NRG Oncology/Gynecologic Oncology Group Study. Clin Cancer Res. 2018 02 15; 24(4):777-783. PMID: 29191972.
    Citations: 62     Fields:    Translation:HumansCells
  34. Seo A, Ben-Harosh M, Sirin M, Stein J, Dgany O, Kaplelushnik J, Hoenig M, Pannicke U, Lorenz M, Schwarz K, Stockklausner C, Walsh T, Gulsuner S, Lee MK, Sendamarai A, Sanchez-Bonilla M, King MC, Cario H, Kulozik AE, Debatin KM, Schulz A, Tamary H, Shimamura A. Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin. Blood. 2017 08 17; 130(7):875-880. PMID: 28559357; PMCID: PMC5561901.
    Citations: 14     Fields:    Translation:HumansCells
  35. Lolas Hamameh S, Renbaum P, Kamal L, Dweik D, Salahat M, Jaraysa T, Abu Rayyan A, Casadei S, Mandell JB, Gulsuner S, Lee MK, Walsh T, King MC, Levy-Lahad E, Kanaan M. Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53. Int J Cancer. 2017 08 15; 141(4):750-756. PMID: 28486781; PMCID: PMC5526459.
    Citations: 18     Fields:    Translation:Humans
  36. Lieberman S, Walsh T, Schechter M, Adar T, Goldin E, Beeri R, Sharon N, Baris H, Ben Avi L, Half E, Lerer I, Shirts BH, Pritchard CC, Tomlinson I, King MC, Levy-Lahad E, Peretz T, Goldberg Y. Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance. Gastroenterology. 2017 06; 152(8):1876-1880.e1. PMID: 28242209.
    Citations: 11     Fields:    Translation:Humans
  37. Aran A, Segel R, Kaneshige K, Gulsuner S, Renbaum P, Oliphant S, Meirson T, Weinberg-Shukron A, Hershkovitz Y, Zeligson S, Lee MK, Samson AO, Parsons SM, King MC, Levy-Lahad E, Walsh T. Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome. Neurology. 2017 Mar 14; 88(11):1021-1028. PMID: 28188302.
    Citations: 10     Fields:    Translation:HumansAnimalsCells
  38. Shirts BH, Pritchard CC, Walsh T. Family-Specific Variants and the Limits of Human Genetics. Trends Mol Med. 2016 Nov; 22(11):925-934. PMID: 27742414.
    Citations: 8     Fields:    Translation:Humans
  39. Steinberg-Shemer O, Keel S, Dgany O, Walsh T, Noy-Lotan S, Krasnov T, Yacobovich J, Quarello P, Ramenghi U, King MC, Shimamura A, Tamary H. Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis. J Pediatr Hematol Oncol. 2016 10; 38(7):e260-2. PMID: 27258031; PMCID: PMC5033710.
    Citations: 2     Fields:    Translation:Humans
  40. Catucci I, Casadei S, Ding YC, Volorio S, Ficarazzi F, Falanga A, Marchetti M, Tondini C, Franchi M, Adamson A, Mandell J, Walsh T, Olopade OI, Manoukian S, Radice P, Ricker C, Weitzel J, King MC, Peterlongo P, Neuhausen SL. Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2. Breast Cancer Res Treat. 2016 11; 160(1):121-129. PMID: 27624329; PMCID: PMC5551669.
    Citations: 5     Fields:    Translation:HumansCells
  41. Rojek K, Nickels E, Neistadt B, Marquez R, Wickrema A, Artz A, van Besien K, Larson RA, Lee MK, Segal JP, King MC, Walsh T, Shimamura A, Keel SB, Churpek JE, Godley LA. Identifying Inherited and Acquired Genetic Factors Involved in Poor Stem Cell Mobilization and Donor-Derived Malignancy. Biol Blood Marrow Transplant. 2016 11; 22(11):2100-2103. PMID: 27497531; PMCID: PMC5592729.
    Citations: 16     Fields:    Translation:Humans
  42. Keel SB, Scott A, Sanchez-Bonilla M, Ho PA, Gulsuner S, Pritchard CC, Abkowitz JL, King MC, Walsh T, Shimamura A. Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. Haematologica. 2016 11; 101(11):1343-1350. PMID: 27418648.
    Citations: 47     Fields:    Translation:Humans
  43. Pritchard CC, Mateo J, Walsh MF, De Sarkar N, Abida W, Beltran H, Garofalo A, Gulati R, Carreira S, Eeles R, Elemento O, Rubin MA, Robinson D, Lonigro R, Hussain M, Chinnaiyan A, Vinson J, Filipenko J, Garraway L, Taplin ME, AlDubayan S, Han GC, Beightol M, Morrissey C, Nghiem B, Cheng HH, Montgomery B, Walsh T, Casadei S, Berger M, Zhang L, Zehir A, Vijai J, Scher HI, Sawyers C, Schultz N, Kantoff PW, Solit D, Robson M, Van Allen EM, Offit K, de Bono J, Nelson PS. Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. N Engl J Med. 2016 Aug 04; 375(5):443-53. PMID: 27433846; PMCID: PMC4986616.
    Citations: 473     Fields:    Translation:HumansCells
  44. Seo A, Walsh T, Lee MK, Ho PA, Hsu EK, Sidbury R, King MC, Shimamura A. FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction. Pancreas. 2016 07; 45(6):858-62. PMID: 26495788.
    Citations: 8     Fields:    Translation:HumansCells
  45. Pierce SB, Gulsuner S, Stapleton GA, Walsh T, Lee MK, Mandell JB, Morales A, Klevit RE, King MC, Rogers RC. Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. Cold Spring Harb Mol Case Stud. 2016 Jul; 2(4):a001107. PMID: 27551684.
    Citations: 6     Fields:    
  46. Aran A, Rosenfeld N, Jaron R, Renbaum P, Zuckerman S, Fridman H, Zeligson S, Segel R, Kohn Y, Kamal L, Kanaan M, Segev Y, Mazaki E, Rabinowitz R, Shen O, Lee M, Walsh T, King MC, Gulsuner S, Levy-Lahad E. Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection. Neurology. 2016 05 24; 86(21):2016-24. PMID: 27164683; PMCID: PMC4887125.
    Citations: 15     Fields:    Translation:Humans
  47. Issa YA, Kamal L, Rayyan AA, Dweik D, Pierce S, Lee MK, King MC, Walsh T, Kanaan M. Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families. Eur J Hum Genet. 2016 10; 24(10):1430-5. PMID: 27049303; PMCID: PMC5027678.
    Citations: 12     Fields:    Translation:HumansCells
  48. Norquist BM, Harrell MI, Brady MF, Walsh T, Lee MK, Gulsuner S, Bernards SS, Casadei S, Yi Q, Burger RA, Chan JK, Davidson SA, Mannel RS, DiSilvestro PA, Lankes HA, Ramirez NC, King MC, Swisher EM, Birrer MJ. Inherited Mutations in Women With Ovarian Carcinoma. JAMA Oncol. 2016 Apr; 2(4):482-90. PMID: 26720728.
    Citations: 241     Fields:    Translation:Humans
  49. Swisher EM, Harrell MI, Norquist BM, Walsh T, Brady M, Lee M, Hershberg R, Kalli KR, Lankes H, Konnick EQ, Pritchard CC, Monk BJ, Chan JK, Burger R, Kaufmann SH, Birrer MJ. Somatic Mosaic Mutations in PPM1D and TP53 in the Blood of Women With Ovarian Carcinoma. JAMA Oncol. 2016 Mar; 2(3):370-2. PMID: 26847329.
    Citations: 39     Fields:    Translation:HumansCells
  50. Grati M, Yan D, Raval MH, Walsh T, Ma Q, Chakchouk I, Kannan-Sundhari A, Mittal R, Masmoudi S, Blanton SH, Tekin M, King MC, Yengo CM, Liu XZ. MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform. Hum Mutat. 2016 May; 37(5):481-7. PMID: 26841241; PMCID: PMC4833613.
    Citations: 12     Fields:    Translation:HumansAnimalsCells
  51. Shirts BH, Casadei S, Jacobson AL, Lee MK, Gulsuner S, Bennett RL, Miller M, Hall SA, Hampel H, Hisama FM, Naylor LV, Goetsch C, Leppig K, Tait JF, Scroggins SM, Turner EH, Livingston R, Salipante SJ, King MC, Walsh T, Pritchard CC. Improving performance of multigene panels for genomic analysis of cancer predisposition. Genet Med. 2016 10; 18(10):974-81. PMID: 26845104.
    Citations: 43     Fields:    Translation:Humans
  52. Lewinsohn M, Brown AL, Weinel LM, Phung C, Rafidi G, Lee MK, Schreiber AW, Feng J, Babic M, Chong CE, Lee Y, Yong A, Suthers GK, Poplawski N, Altree M, Phillips K, Jaensch L, Fine M, D'Andrea RJ, Lewis ID, Medeiros BC, Pollyea DA, King MC, Walsh T, Keel S, Shimamura A, Godley LA, Hahn CN, Churpek JE, Scott HS. Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies. Blood. 2016 Feb 25; 127(8):1017-23. PMID: 26712909; PMCID: PMC4968341.
    Citations: 72     Fields:    Translation:Humans
  53. Bernards SS, Norquist BM, Harrell MI, Agnew KJ, Lee MK, Walsh T, Swisher EM. Genetic characterization of early onset ovarian carcinoma. Gynecol Oncol. 2016 Feb; 140(2):221-5. PMID: 26718727; PMCID: PMC4869974.
    Citations: 9     Fields:    Translation:Humans
  54. Churpek JE, Marquez R, Neistadt B, Claussen K, Lee MK, Churpek MM, Huo D, Weiner H, Bannerjee M, Godley LA, Le Beau MM, Pritchard CC, Walsh T, King MC, Olopade OI, Larson RA. Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia. Cancer. 2016 Jan 15; 122(2):304-11. PMID: 26641009; PMCID: PMC4707981.
    Citations: 44     Fields:    Translation:Humans
  55. Unal Gulsuner H, Gulsuner S, Mercan FN, Onat OE, Walsh T, Shahin H, Lee MK, Dogu O, Kansu T, Topaloglu H, Elibol B, Akbostanci C, King MC, Ozcelik T, Tekinay AB. Reply to Tzoulis et al.: Genetic and clinical heterogeneity of essential tremor. Proc Natl Acad Sci U S A. 2015 May 05; 112(18):E2269. PMID: 25825780; PMCID: PMC4426455.
    Citations:    Fields:    Translation:HumansCells
  56. Bayram Y, Gulsuner S, Guran T, Abaci A, Yesil G, Gulsuner HU, Atay Z, Pierce SB, Gambin T, Lee M, Turan S, Bober E, Atik MM, Walsh T, Karaca E, Pehlivan D, Jhangiani SN, Muzny D, Bereket A, Buyukgebiz A, Boerwinkle E, Gibbs RA, King MC, Lupski JR. Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. J Clin Endocrinol Metab. 2015 May; 100(5):E808-14. PMID: 25774885; PMCID: PMC4422898.
    Citations: 9     Fields:    Translation:Humans
  57. Timoteo AR, Albuquerque BM, Moura PC, Ramos CC, Agnez-Lima LF, Walsh T, King MC, Lajus TB. Identification of a new BRCA2 large genomic deletion associated with high risk male breast cancer. Hered Cancer Clin Pract. 2015; 13(1):2. PMID: 25632310; PMCID: PMC4308828.
    Citations: 11     
  58. Zhang MY, Churpek JE, Keel SB, Walsh T, Lee MK, Loeb KR, Gulsuner S, Pritchard CC, Sanchez-Bonilla M, Delrow JJ, Basom RS, Forouhar M, Gyurkocza B, Schwartz BS, Neistadt B, Marquez R, Mariani CJ, Coats SA, Hofmann I, Lindsley RC, Williams DA, Abkowitz JL, Horwitz MS, King MC, Godley LA, Shimamura A. Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nat Genet. 2015 Feb; 47(2):180-5. PMID: 25581430.
    Citations: 121     Fields:    Translation:HumansCells
  59. Churpek JE, Walsh T, Zheng Y, Moton Z, Thornton AM, Lee MK, Casadei S, Watts A, Neistadt B, Churpek MM, Huo D, Zvosec C, Liu F, Niu Q, Marquez R, Zhang J, Fackenthal J, King MC, Olopade OI. Inherited predisposition to breast cancer among African American women. Breast Cancer Res Treat. 2015 Jan; 149(1):31-9. PMID: 25428789; PMCID: PMC4298662.
    Citations: 58     Fields:    Translation:Humans
  60. Unal Gulsuner H, Gulsuner S, Mercan FN, Onat OE, Walsh T, Shahin H, Lee MK, Dogu O, Kansu T, Topaloglu H, Elibol B, Akbostanci C, King MC, Ozcelik T, Tekinay AB. Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease. Proc Natl Acad Sci U S A. 2014 Dec 23; 111(51):18285-90. PMID: 25422467; PMCID: PMC4280582.
    Citations: 57     Fields:    Translation:HumansCells
  61. Morino H, Pierce SB, Matsuda Y, Walsh T, Ohsawa R, Newby M, Hiraki-Kamon K, Kuramochi M, Lee MK, Klevit RE, Martin A, Maruyama H, King MC, Kawakami H. Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. Neurology. 2014 Nov 25; 83(22):2054-61. PMID: 25355836; PMCID: PMC4248451.
    Citations: 39     Fields:    Translation:HumansCells
  62. Pritchard CC, Morrissey C, Kumar A, Zhang X, Smith C, Coleman I, Salipante SJ, Milbank J, Yu M, Grady WM, Tait JF, Corey E, Vessella RL, Walsh T, Shendure J, Nelson PS. Complex MSH2 and MSH6 mutations in hypermutated microsatellite unstable advanced prostate cancer. Nat Commun. 2014 Sep 25; 5:4988. PMID: 25255306.
    Citations: 107     Fields:    Translation:HumansCells
  63. Zhang MY, Keel SB, Walsh T, Lee MK, Gulsuner S, Watts AC, Pritchard CC, Salipante SJ, Jeng MR, Hofmann I, Williams DA, Fleming MD, Abkowitz JL, King MC, Shimamura A. Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity. Haematologica. 2015 Jan; 100(1):42-8. PMID: 25239263.
    Citations: 58     Fields:    Translation:Humans
  64. Saitsu H, Tohyama J, Walsh T, Kato M, Kobayashi Y, Lee M, Tsurusaki Y, Miyake N, Goto Y, Nishino I, Ohtake A, King MC, Matsumoto N. A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation. J Hum Genet. 2014 Oct; 59(10):581-3. PMID: 25102098.
    Citations: 19     Fields:    Translation:Humans
  65. Shirts BH, Salipante SJ, Casadei S, Ryan S, Martin J, Jacobson A, Vlaskin T, Koehler K, Livingston RJ, King MC, Walsh T, Pritchard CC. Deep sequencing with intronic capture enables identification of an APC exon 10 inversion in a patient with polyposis. Genet Med. 2014 Oct; 16(10):783-6. PMID: 24675673; PMCID: PMC4752361.
    Citations: 9     Fields:    Translation:HumansCells
  66. Navon Elkan P, Pierce SB, Segel R, Walsh T, Barash J, Padeh S, Zlotogorski A, Berkun Y, Press JJ, Mukamel M, Voth I, Hashkes PJ, Harel L, Hoffer V, Ling E, Yalcinkaya F, Kasapcopur O, Lee MK, Klevit RE, Renbaum P, Weinberg-Shukron A, Sener EF, Schormair B, Zeligson S, Marek-Yagel D, Strom TM, Shohat M, Singer A, Rubinow A, Pras E, Winkelmann J, Tekin M, Anikster Y, King MC, Levy-Lahad E. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med. 2014 Mar 06; 370(10):921-31. PMID: 24552285.
    Citations: 190     Fields:    Translation:Humans
  67. Pennington KP, Walsh T, Harrell MI, Lee MK, Pennil CC, Rendi MH, Thornton A, Norquist BM, Casadei S, Nord AS, Agnew KJ, Pritchard CC, Scroggins S, Garcia RL, King MC, Swisher EM. Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. Clin Cancer Res. 2014 Feb 01; 20(3):764-75. PMID: 24240112.
    Citations: 329     Fields:    Translation:Humans
  68. Pritchard CC, Salipante SJ, Koehler K, Smith C, Scroggins S, Wood B, Wu D, Lee MK, Dintzis S, Adey A, Liu Y, Eaton KD, Martins R, Stricker K, Margolin KA, Hoffman N, Churpek JE, Tait JF, King MC, Walsh T. Validation and implementation of targeted capture and sequencing for the detection of actionable mutation, copy number variation, and gene rearrangement in clinical cancer specimens. J Mol Diagn. 2014 Jan; 16(1):56-67. PMID: 24189654.
    Citations: 123     Fields:    Translation:Humans
  69. Rippey C, Walsh T, Gulsuner S, Brodsky M, Nord AS, Gasperini M, Pierce S, Spurrell C, Coe BP, Krumm N, Lee MK, Sebat J, McClellan JM, King MC. Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia. Am J Hum Genet. 2013 Oct 03; 93(4):697-710. PMID: 24094746.
    Citations: 25     Fields:    Translation:HumansCells
  70. Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT, Kim JH, Rosenthal EA, Kim DS, Tabor HK, Bamshad MJ, Motulsky AG, Scott CR, Pritchard CC, Walsh T, Burke W, Raskind WH, Byers P, Hisama FM, Nickerson DA, Jarvik GP. Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 Oct 03; 93(4):631-40. PMID: 24055113.
    Citations: 206     Fields:    Translation:Humans
  71. Gulsuner S, Walsh T, Watts AC, Lee MK, Thornton AM, Casadei S, Rippey C, Shahin H, Nimgaonkar VL, Go RC, Savage RM, Swerdlow NR, Gur RE, Braff DL, King MC, McClellan JM. Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. Cell. 2013 Aug 01; 154(3):518-29. PMID: 23911319.
    Citations: 293     Fields:    Translation:HumansCells
  72. Kodera H, Kato M, Nord AS, Walsh T, Lee M, Yamanaka G, Tohyama J, Nakamura K, Nakagawa E, Ikeda T, Ben-Zeev B, Lev D, Lerman-Sagie T, Straussberg R, Tanabe S, Ueda K, Amamoto M, Ohta S, Nonoda Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, King MC, Matsumoto N, Saitsu H. Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. Epilepsia. 2013 Jul; 54(7):1262-9. PMID: 23662938.
    Citations: 34     Fields:    Translation:Humans
  73. Pritchard CC, Smith C, Marushchak T, Koehler K, Holmes H, Raskind W, Walsh T, Bennett RL. A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencing. Genet Med. 2013 Dec; 15(12):1004-7. PMID: 23619277.
    Citations: 11     Fields:    Translation:HumansCells
  74. Pierce SB, Gersak K, Michaelson-Cohen R, Walsh T, Lee MK, Malach D, Klevit RE, King MC, Levy-Lahad E. Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. Am J Hum Genet. 2013 Apr 04; 92(4):614-20. PMID: 23541342.
    Citations: 97     Fields:    Translation:HumansCells
  75. Jenkinson EM, Rehman AU, Walsh T, Clayton-Smith J, Lee K, Morell RJ, Drummond MC, Khan SN, Naeem MA, Rauf B, Billington N, Schultz JM, Urquhart JE, Lee MK, Berry A, Hanley NA, Mehta S, Cilliers D, Clayton PE, Kingston H, Smith MJ, Warner TT, Black GC, Trump D, Davis JR, Ahmad W, Leal SM, Riazuddin S, King MC, Friedman TB, Newman WG. Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet. 2013 Apr 04; 92(4):605-13. PMID: 23541340.
    Citations: 99     Fields:    Translation:HumansCells
  76. Yan D, Zhu Y, Walsh T, Xie D, Yuan H, Sirmaci A, Fujikawa T, Wong AC, Loh TL, Du L, Grati M, Vlajkovic SM, Blanton S, Ryan AF, Chen ZY, Thorne PR, Kachar B, Tekin M, Zhao HB, Housley GD, King MC, Liu XZ. Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise. Proc Natl Acad Sci U S A. 2013 Feb 05; 110(6):2228-33. PMID: 23345450.
    Citations: 59     Fields:    Translation:HumansAnimalsCells
  77. Norquist BM, Pennington KP, Agnew KJ, Harrell MI, Pennil CC, Lee MK, Casadei S, Thornton AM, Garcia RL, Walsh T, Swisher EM. Characteristics of women with ovarian carcinoma who have BRCA1 and BRCA2 mutations not identified by clinical testing. Gynecol Oncol. 2013 Mar; 128(3):483-7. PMID: 23262210.
    Citations: 9     Fields:    Translation:Humans
  78. Wickramanayake A, Wickramanyake A, Bernier G, Pennil C, Casadei S, Agnew KJ, Stray SM, Mandell J, Garcia RL, Walsh T, King MC, Swisher EM. Loss of function germline mutations in RAD51D in women with ovarian carcinoma. Gynecol Oncol. 2012 Dec; 127(3):552-5. PMID: 22986143.
    Citations: 20     Fields:    Translation:Humans
  79. Pennington KP, Walsh T, Lee M, Pennil C, Novetsky AP, Agnew KJ, Thornton A, Garcia R, Mutch D, King MC, Goodfellow P, Swisher EM. BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. Cancer. 2013 Jan 15; 119(2):332-8. PMID: 22811390; PMCID: PMC3966566.
    Citations: 35     Fields:    Translation:Humans
  80. Pritchard CC, Smith C, Salipante SJ, Lee MK, Thornton AM, Nord AS, Gulden C, Kupfer SS, Swisher EM, Bennett RL, Novetsky AP, Jarvik GP, Olopade OI, Goodfellow PJ, King MC, Tait JF, Walsh T. ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn. 2012 Jul; 14(4):357-66. PMID: 22658618.
    Citations: 101     Fields:    Translation:Humans
  81. Kazenwadel J, Secker GA, Liu YJ, Rosenfeld JA, Wildin RS, Cuellar-Rodriguez J, Hsu AP, Dyack S, Fernandez CV, Chong CE, Babic M, Bardy PG, Shimamura A, Zhang MY, Walsh T, Holland SM, Hickstein DD, Horwitz MS, Hahn CN, Scott HS, Harvey NL. Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature. Blood. 2012 Feb 02; 119(5):1283-91. PMID: 22147895; PMCID: PMC3277359.
    Citations: 120     Fields:    Translation:HumansAnimalsCells
  82. Walsh T, Casadei S, Lee MK, Pennil CC, Nord AS, Thornton AM, Roeb W, Agnew KJ, Stray SM, Wickramanayake A, Norquist B, Pennington KP, Garcia RL, King MC, Swisher EM. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A. 2011 Nov 01; 108(44):18032-7. PMID: 22006311.
    Citations: 376     Fields:    Translation:Humans
  83. Brownstein Z, Friedman LM, Shahin H, Oron-Karni V, Kol N, Abu Rayyan A, Parzefall T, Lev D, Shalev S, Frydman M, Davidov B, Shohat M, Rahile M, Lieberman S, Levy-Lahad E, Lee MK, Shomron N, King MC, Walsh T, Kanaan M, Avraham KB. Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Genome Biol. 2011 Sep 14; 12(9):R89. PMID: 21917145; PMCID: PMC3308052.
    Citations: 104     Fields:    Translation:HumansAnimals
  84. Yariz KO, Walsh T, Uzak A, Spiliopoulos M, Duman D, Onalan G, King MC, Tekin M. Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome. Fertil Steril. 2011 Aug; 96(2):e125-30. PMID: 21683950.
    Citations: 18     Fields:    Translation:HumansCells
  85. Nord AS, Lee M, King MC, Walsh T. Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics. 2011 Apr 12; 12:184. PMID: 21486468.
    Citations: 98     Fields:    
  86. Pierce SB, Chisholm KM, Lynch ED, Lee MK, Walsh T, Opitz JM, Li W, Klevit RE, King MC. Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci U S A. 2011 Apr 19; 108(16):6543-8. PMID: 21464306.
    Citations: 120     Fields:    Translation:HumansAnimalsCells
  87. Nord AS, Roeb W, Dickel DE, Walsh T, Kusenda M, O'Connor KL, Malhotra D, McCarthy SE, Stray SM, Taylor SM, Sebat J, King B, King MC, McClellan JM. Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. Eur J Hum Genet. 2011 Jun; 19(6):727-31. PMID: 21448237.
    Citations: 64     Fields:    Translation:HumansCells
  88. Casadei S, Norquist BM, Walsh T, Stray S, Mandell JB, Lee MK, Stamatoyannopoulos JA, King MC. Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Res. 2011 Mar 15; 71(6):2222-9. PMID: 21285249.
    Citations: 102     Fields:    Translation:HumansCells
  89. Walsh VL, Raviv D, Dror AA, Shahin H, Walsh T, Kanaan MN, Avraham KB, King MC. A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA. Mamm Genome. 2011 Apr; 22(3-4):170-7. PMID: 21165622.
    Citations: 24     Fields:    Translation:HumansAnimalsCells
  90. Sirmaci A, Walsh T, Akay H, Spiliopoulos M, Sakalar YB, Hasanefendioglu-Bayrak A, Duman D, Farooq A, King MC, Tekin M. MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. Am J Hum Genet. 2010 Nov 12; 87(5):679-86. PMID: 21035106.
    Citations: 52     Fields:    Translation:HumansCells
  91. Pierce SB, Walsh T, Chisholm KM, Lee MK, Thornton AM, Fiumara A, Opitz JM, Levy-Lahad E, Klevit RE, King MC. Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet. 2010 Aug 13; 87(2):282-8. PMID: 20673864.
    Citations: 105     Fields:    Translation:HumansCells
  92. Walsh T, Lee MK, Casadei S, Thornton AM, Stray SM, Pennil C, Nord AS, Mandell JB, Swisher EM, King MC. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A. 2010 Jul 13; 107(28):12629-33. PMID: 20616022.
    Citations: 207     Fields:    Translation:HumansCells
  93. Walsh T, Pierce SB, Lenz DR, Brownstein Z, Dagan-Rosenfeld O, Shahin H, Roeb W, McCarthy S, Nord AS, Gordon CR, Ben-Neriah Z, Sebat J, Kanaan M, Lee MK, Frydman M, King MC, Avraham KB. Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51. Am J Hum Genet. 2010 Jul 09; 87(1):101-9. PMID: 20602916.
    Citations: 45     Fields:    Translation:HumansAnimalsCells
  94. Walsh T, Shahin H, Elkan-Miller T, Lee MK, Thornton AM, Roeb W, Abu Rayyan A, Loulus S, Avraham KB, King MC, Kanaan M. Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Am J Hum Genet. 2010 Jul 09; 87(1):90-4. PMID: 20602914; PMCID: PMC2896776.
    Citations: 144     Fields:    Translation:HumansAnimalsCells
  95. Shahin H, Rahil M, Abu Rayan A, Avraham KB, King MC, Kanaan M, Walsh T. Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84. J Med Genet. 2010 Sep; 47(9):643-5. PMID: 20472657.
    Citations: 23     Fields:    Translation:HumansAnimalsCells
  96. Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet. 2010 Mar; 42(3):203-9. PMID: 20154674; PMCID: PMC2847896.
    Citations: 266     Fields:    Translation:HumansCells
  97. Shahin H, Walsh T, Rayyan AA, Lee MK, Higgins J, Dickel D, Lewis K, Thompson J, Baker C, Nord AS, Stray S, Gurwitz D, Avraham KB, King MC, Kanaan M. Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. Eur J Hum Genet. 2010 Apr; 18(4):407-13. PMID: 19888295.
    Citations: 42     Fields:    Translation:HumansCells
  98. McCarthy SE, Makarov V, Kirov G, Addington AM, McClellan J, Yoon S, Perkins DO, Dickel DE, Kusenda M, Krastoshevsky O, Krause V, Kumar RA, Grozeva D, Malhotra D, Walsh T, Zackai EH, Kaplan P, Ganesh J, Krantz ID, Spinner NB, Roccanova P, Bhandari A, Pavon K, Lakshmi B, Leotta A, Kendall J, Lee YH, Vacic V, Gary S, Iakoucheva LM, Crow TJ, Christian SL, Lieberman JA, Stroup TS, Lehtimäki T, Puura K, Haldeman-Englert C, Pearl J, Goodell M, Willour VL, Derosse P, Steele J, Kassem L, Wolff J, Chitkara N, McMahon FJ, Malhotra AK, Potash JB, Schulze TG, Nöthen MM, Cichon S, Rietschel M, Leibenluft E, Kustanovich V, Lajonchere CM, Sutcliffe JS, Skuse D, Gill M, Gallagher L, Mendell NR, Craddock N, Owen MJ, O'Donovan MC, Shaikh TH, Susser E, Delisi LE, Sullivan PF, Deutsch CK, Rapoport J, Levy DL, King MC, Sebat J. Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet. 2009 Nov; 41(11):1223-7. PMID: 19855392; PMCID: PMC2951180.
    Citations: 323     Fields:    Translation:HumansCells
  99. Swisher EM, Gonzalez RM, Taniguchi T, Garcia RL, Walsh T, Goff BA, Welcsh P. Methylation and protein expression of DNA repair genes: association with chemotherapy exposure and survival in sporadic ovarian and peritoneal carcinomas. Mol Cancer. 2009 Jul 14; 8:48. PMID: 19602291.
    Citations: 34     Fields:    Translation:HumansCells
  100. Doucette L, Merner ND, Cooke S, Ives E, Galutira D, Walsh V, Walsh T, MacLaren L, Cater T, Fernandez B, Green JS, Wilcox ER, Shotland LI, Shotland L, Li XC, Li XC, Lee M, King MC, Young TL. Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15. Eur J Hum Genet. 2009 May; 17(5):554-64. PMID: 19107147; PMCID: PMC2986256.
    Citations: 17     Fields:    Translation:HumansCells
  101. Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med. 2008 Oct 16; 359(16):1685-99. PMID: 18784092; PMCID: PMC2703742.
    Citations: 309     Fields:    Translation:HumansCells
  102. Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, Cooper GM, Nord AS, Kusenda M, Malhotra D, Bhandari A, Stray SM, Rippey CF, Roccanova P, Makarov V, Lakshmi B, Findling RL, Sikich L, Stromberg T, Merriman B, Gogtay N, Butler P, Eckstrand K, Noory L, Gochman P, Long R, Chen Z, Davis S, Baker C, Eichler EE, Meltzer PS, Nelson SF, Singleton AB, Lee MK, Rapoport JL, King MC, Sebat J. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science. 2008 Apr 25; 320(5875):539-43. PMID: 18369103.
    Citations: 798     Fields:    Translation:HumansCells
  103. Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimäki T, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC, Ye K, Wigler M. Strong association of de novo copy number mutations with autism. Science. 2007 Apr 20; 316(5823):445-9. PMID: 17363630.
    Citations: 1234     Fields:    Translation:HumansCells
  104. Walsh T, King MC. Ten genes for inherited breast cancer. Cancer Cell. 2007 Feb; 11(2):103-5. PMID: 17292821.
    Citations: 186     Fields:    Translation:Humans
  105. Walsh T, Casadei S, Coats KH, Swisher E, Stray SM, Higgins J, Roach KC, Mandell J, Lee MK, Ciernikova S, Foretova L, Soucek P, King MC. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA. 2006 Mar 22; 295(12):1379-88. PMID: 16551709.
    Citations: 233     Fields:    Translation:Humans
  106. Walsh T, Abu Rayan A, Abu Sa'ed J, Shahin H, Shepshelovich J, Lee MK, Hirschberg K, Tekin M, Salhab W, Avraham KB, King MC, Kanaan M. Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population. Hum Genomics. 2006 Jan; 2(4):203-11. PMID: 16460646.
    Citations: 22     Fields:    Translation:Humans
  107. Shahin H, Walsh T, Sobe T, Abu Sa'ed J, Abu Rayan A, Lynch ED, Lee MK, Avraham KB, King MC, Kanaan M. Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss. Am J Hum Genet. 2006 Jan; 78(1):144-52. PMID: 16385458; PMCID: PMC1380212.
    Citations: 58     Fields:    Translation:HumansAnimalsCells
  108. Shaag A, Walsh T, Renbaum P, Kirchhoff T, Nafa K, Shiovitz S, Mandell JB, Welcsh P, Lee MK, Ellis N, Offit K, Levy-Lahad E, King MC. Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population. Hum Mol Genet. 2005 Feb 15; 14(4):555-63. PMID: 15649950.
    Citations: 44     Fields:    Translation:HumansAnimals
  109. Hamaguchi M, Meth JL, von Klitzing C, Wei W, Esposito D, Rodgers L, Walsh T, Welcsh P, King MC, Wigler MH. DBC2, a candidate for a tumor suppressor gene involved in breast cancer. Proc Natl Acad Sci U S A. 2002 Oct 15; 99(21):13647-52. PMID: 12370419; PMCID: PMC129730.
    Citations: 89     Fields:    Translation:HumansCells
  110. Walsh T, Walsh V, Vreugde S, Hertzano R, Shahin H, Haika S, Lee MK, Kanaan M, King MC, Avraham KB. From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. Proc Natl Acad Sci U S A. 2002 May 28; 99(11):7518-23. PMID: 12032315; PMCID: PMC124268.
    Citations: 99     Fields:    Translation:Animals
  111. Shahin H, Walsh T, Sobe T, Lynch E, King MC, Avraham KB, Kanaan M. Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East. Hum Genet. 2002 Mar; 110(3):284-9. PMID: 11935342.
    Citations: 37     Fields:    Translation:HumansCells
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.