Mary-Claire King, PhD - Publications

Affiliations: 
1976-1995 Genetics University of California, Berkeley, Berkeley, CA, United States 
 1995- Medical genetics University of Washington, Seattle, Seattle, WA 
Area:
inherited predisposition to breast and ovarian cancer
Website:
http://depts.washington.edu/medgen/faculty/Mary-Claire_King.shtml

151 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 McClellan JM, Zoghbi AW, Buxbaum JD, Cappi C, Crowley JJ, Flint J, Grice DE, Gulsuner S, Iyegbe C, Jain S, Kuo PH, Lattig MC, Passos-Bueno MR, Purushottam M, Stein DJ, ... ... King MC, et al. An evolutionary perspective on complex neuropsychiatric disease. Neuron. PMID 38016473 DOI: 10.1016/j.neuron.2023.10.037  0.684
2023 Aburayyan A, Carlson RJ, Rabie GN, Lee MK, Gulsuner S, Walsh T, Avraham KB, Kanaan MN, King MC. Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss. Human Molecular Genetics. PMID 37074134 DOI: 10.1093/hmg/ddad066  0.619
2023 Carlson RJ, Walsh T, Mandell JB, Aburayyan A, Lee MK, Gulsuner S, Horn DL, Ou HC, Sie KCY, Mancl L, Rubinstein J, King MC. Association of Genetic Diagnoses of Childhood-Onset Hearing Loss With Cochlear Implant Outcomes. Jama Otolaryngology-- Head & Neck Surgery. PMID 36633841 DOI: 10.1001/jamaoto.2022.4463  0.634
2021 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, ... ... King MC, et al. Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy. Journal of Medical Genetics. PMID 34321325 DOI: 10.1136/jmedgenet-2021-107884  0.624
2021 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. Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology. PMID 34049328 DOI: 10.1097/MAO.0000000000003176  0.617
2021 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. The Journal of Allergy and Clinical Immunology. PMID 33864888 DOI: 10.1016/j.jaci.2021.04.005  0.602
2021 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, ... ... King MC, et al. Germline variants drive myelodysplastic syndrome in young adults. Leukemia. PMID 33510405 DOI: 10.1038/s41375-021-01137-0  0.608
2021 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. 7: 6. PMID 33479248 DOI: 10.1038/s41523-020-00214-4  0.649
2020 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, ... ... King MC, et al. Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1. Clinical Genetics. 98: 353-364. PMID 33111345 DOI: 10.1111/Cge.13817  0.713
2020 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 and other tumour suppressor genes. Journal of Medical Genetics. PMID 33060287 DOI: 10.1136/jmedgenet-2020-107320  0.691
2020 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, ... ... King MC, et al. Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations. Blood Advances. 4: 4873-4886. PMID 33035329 DOI: 10.1182/bloodadvances.2020001721  0.661
2020 Kamal L, Pierce SB, Canavati C, Rayyan AA, Jaraysa T, Lobel O, Lolas S, Norquist BM, Rabie G, Zahdeh F, Levy-Lahad E, King MC, Kanaan MN. Helicase-inactivating mutation yields Fanconi anemia with microcephaly and other congenital abnormalities. Cold Spring Harbor Molecular Case Studies. 6. PMID 33028645 DOI: 10.1101/mcs.a005652  0.354
2020 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. 15: e0239197. PMID 32997669 DOI: 10.1371/journal.pone.0239197  0.707
2020 Auerbach A, Cohen A, Shlomai NO, Weinberg-Shukron A, Gulsuner S, King MC, Hemi R, Levy-Lahad E, Abulibdeh A, Zangen D. NKX2-2 mutation causes congenital diabetes and infantile obesity with paradoxical glucose induced ghrelin secretion. The Journal of Clinical Endocrinology and Metabolism. PMID 32818257 DOI: 10.1210/Clinem/Dgaa563  0.67
2020 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, et al. Genomic analysis of inherited hearing loss in the Palestinian population. Proceedings of the National Academy of Sciences of the United States of America. PMID 32747562 DOI: 10.1073/Pnas.2009628117  0.733
2020 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. PMID 32462292 DOI: 10.1007/S10048-020-00615-4  0.684
2020 Dines JN, Shirts BH, Slavin TP, Walsh T, King MC, Fowler DM, Pritchard CC. Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots". Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31911673 DOI: 10.1038/S41436-019-0740-6  0.335
2020 Sunshine A, Gulsuner S, Walsh T, King M, McClellan J. Genomic and Functional Analysis of De Novo Nonsense Mutation in a Chromatin Remodeling Gene in a Patient With Sporadic Schizophrenia Biological Psychiatry. 87: S179. DOI: 10.1016/J.Biopsych.2020.02.470  0.715
2019 Abdel-Rahman MH, Sample KM, Pilarski R, Walsh T, Grosel T, Kinnamon D, Boru G, Massengill JB, Schoenfield L, Kelly B, Gordon D, Johansson P, DeBenedictis MJ, Singh A, Casadei S, ... ... King MC, et al. Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma. Ophthalmology. PMID 32081490 DOI: 10.1016/J.Ophtha.2019.11.009  0.384
2019 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. Proceedings of the National Academy of Sciences of the United States of America. PMID 31843900 DOI: 10.1073/Pnas.1915608116  0.735
2019 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, ... ... King MC, et al. Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A. Clinical and Translational Gastroenterology. PMID 31259752 DOI: 10.14309/Ctg.0000000000000054  0.705
2019 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, ... ... King MC, et al. Inherited predisposition to malignant mesothelioma and overall survival following platinum chemotherapy. Proceedings of the National Academy of Sciences of the United States of America. PMID 30975761 DOI: 10.1073/Pnas.1821510116  0.692
2018 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). Human Molecular Genetics. PMID 30247636 DOI: 10.1093/Hmg/Ddy334  0.718
2018 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, et al. Essential Role of BRCA2 in Ovarian Development and Function. The New England Journal of Medicine. 379: 1042-1049. PMID 30207912 DOI: 10.1056/Nejmoa1800024  0.674
2018 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. European Journal of Human Genetics : Ejhg. PMID 30139988 DOI: 10.1038/S41431-018-0218-Z  0.695
2018 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, ... ... King MC, et al. Inherited Breast Cancer in Nigerian Women. Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology. JCO2018783977. PMID 30130155 DOI: 10.1200/Jco.2018.78.3977  0.7
2018 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. PMID 30030275 DOI: 10.1182/Blood-2018-03-837336  0.711
2018 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. American Journal of Human Genetics. PMID 29887214 DOI: 10.1016/J.Ajhg.2018.05.001  0.425
2018 King MC, Walsh T. Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2-Reply. Jama Oncology. PMID 29800948 DOI: 10.1001/Jamaoncol.2018.0616  0.409
2018 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, ... ... King MC, et al. Mitochondrial peptidase loss-of-function in childhood cerebellar atrophy. Journal of Medical Genetics. PMID 29764912 DOI: 10.1136/Jmedgenet-2018-105330  0.662
2018 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 . Proceedings of the National Academy of Sciences of the United States of America. PMID 29712865 DOI: 10.1073/Pnas.1801796115  0.465
2018 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. Proceedings of the National Academy of Sciences of the United States of America. PMID 29386386 DOI: 10.1073/Pnas.1721290115  0.675
2018 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. Proceedings of the National Academy of Sciences of the United States of America. PMID 29367421 DOI: 10.1073/Pnas.1715467115  0.384
2018 Hassan R, Morrow B, Walsh T, Lee MK, Gao J, Mian I, Khan J, Raffeld M, Patel S, Xi L, Wei JS, Schrump D, Hesdorffer M, Zhang J, Calzone K, ... ... King M, et al. Inherited predisposition to malignant mesothelioma (MM) due to mutations in DNA repair genes. Journal of Clinical Oncology. 36: 8504-8504. DOI: 10.1200/Jco.2018.36.15_Suppl.8504  0.4
2017 Norquist BM, Brady MF, Harrell MI, Walsh T, Lee MK, Gulsuner S, Bernards SS, Casadei S, Burger RA, Tewari KS, Backes FJ, Mannel RS, Glaser G, Bailey C, Rubin SC, ... ... King MC, et al. Mutations in Homologous Recombination Genes and Outcomes in Ovarian Carcinoma Patients in GOG 218: an NRG Oncology/Gynecologic Oncology Group Study. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. PMID 29191972 DOI: 10.1158/1078-0432.Ccr-17-1327  0.693
2017 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 Oncology. PMID 28727877 DOI: 10.1001/Jamaoncol.2017.1996  0.711
2017 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, ... ... King MC, et al. Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in THPO. Blood. PMID 28559357 DOI: 10.1182/Blood-2017-02-768036  0.689
2017 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. International Journal of Cancer. PMID 28486781 DOI: 10.1002/Ijc.30771  0.72
2017 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, et al. Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance. Gastroenterology. PMID 28242209 DOI: 10.1053/J.Gastro.2017.02.014  0.386
2017 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, et al. Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome. Neurology. PMID 28188302 DOI: 10.1212/Wnl.0000000000003720  0.655
2017 Felix GES, Zheng Y, Guindalini RSC, Machado-Lopes TMB, Zhang J, Côrtes J, Oliveira PC, Santos IS, Bomfim T, Garicochea B, Toralles MB, Abe-Sandes K, Nascimento ILO, King M, Walsh T, et al. BROCA gene panel testing in African descendants from northeastern Brazil: Genetic susceptibility profile of an admixed population. Journal of Clinical Oncology. 35: 1572-1572. DOI: 10.1200/Jco.2017.35.15_Suppl.1572  0.456
2017 King M. 343. From Gene Discovery to Diagnosis and Treatment: Breast Cancer as a Perhaps Unlikely Model for Mental Illness Biological Psychiatry. 81. DOI: 10.1016/J.Biopsych.2017.02.360  0.312
2016 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 Harbor Molecular Case Studies. 2: a001107. PMID 27551684 DOI: 10.1101/mcs.a001107  0.71
2016 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. PMID 27418648 DOI: 10.3324/Haematol.2016.149476  0.703
2016 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, ... ... King MC, et al. Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection. Neurology. PMID 27164683 DOI: 10.1212/Wnl.0000000000002704  0.641
2016 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. European Journal of Human Genetics : Ejhg. PMID 27049303 DOI: 10.1038/ejhg.2016.29  0.303
2016 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, ... ... King MC, et al. Improving performance of multigene panels for genomic analysis of cancer predisposition. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26845104 DOI: 10.1038/Gim.2015.212  0.644
2016 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. Human Mutation. PMID 26841241 DOI: 10.1002/Humu.22961  0.417
2016 Keel SB, Walsh T, Pritchard C, Shimamura A, King M, Wu D. Detection of Mutations in Inherited Bone Marrow Failure and Myelodysplastic Syndrome Genes Using Genomic Capture and Massively Parallel Sequencing in Clinical Diagnostics Blood. 128: 1507-1507. DOI: 10.1182/Blood.V128.22.1507.1507  0.391
2015 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, ... ... King MC, et al. Inherited Mutations in Women With Ovarian Carcinoma. Jama Oncology. 1-9. PMID 26720728 DOI: 10.1001/Jamaoncol.2015.5495  0.684
2015 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, ... ... King MC, et al. Novel germline DDX41 mutations define families with a lower age of MDS/AML onset, and lymphoid malignancies. Blood. PMID 26712909 DOI: 10.1182/Blood-2015-10-676098  0.337
2015 Seo A, Walsh T, Lee M, Ho P, Hsu EK, Sidbury R, King MC, Shimamura A. FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction. Pancreas. PMID 26495788 DOI: 10.1097/Mpa.0000000000000529  0.355
2015 Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, Sweney M, Nelson B, Andermann F, Andermann E, Acsadi G, Barbano RL, Brown C, Brunkow ME, Chugani HT, Cheyette SR, ... ... King MD, et al. Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. Plos One. 10: e0127045. PMID 25996915 DOI: 10.1371/Journal.Pone.0127045  0.329
2015 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. Proceedings of the National Academy of Sciences of the United States of America. 112: E2269. PMID 25825780 DOI: 10.1073/Pnas.1503756112  0.733
2015 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, ... ... King MC, et al. Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. The Journal of Clinical Endocrinology and Metabolism. 100: E808-14. PMID 25774885 DOI: 10.1210/Jc.2015-1150  0.675
2015 Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, ... ... King MD, et al. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. American Journal of Medical Genetics. Part A. 167: 296-312. PMID 25604658 DOI: 10.1002/Ajmg.A.36887  0.307
2015 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, ... ... King MC, et al. Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nature Genetics. 47: 180-5. PMID 25581430 DOI: 10.1038/Ng.3177  0.687
2015 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, ... ... King MC, et al. Inherited predisposition to breast cancer among African American women. Breast Cancer Research and Treatment. 149: 31-9. PMID 25428789 DOI: 10.1007/S10549-014-3195-0  0.312
2015 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. 100: 42-8. PMID 25239263 DOI: 10.3324/Haematol.2014.113456  0.65
2015 Miller K, Tong Y, Jones DR, Walsh T, Danso MA, Ma CX, Silverman P, King M, Badve SS, Perkins SM. Cisplatin with or without rucaparib after preoperative chemotherapy in patients with triple negative breast cancer: Final efficacy results of Hoosier Oncology Group BRE09-146. Journal of Clinical Oncology. 33: 1082-1082. DOI: 10.1200/Jco.2015.33.15_Suppl.1082  0.328
2014 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. Proceedings of the National Academy of Sciences of the United States of America. 111: 18285-90. PMID 25422467 DOI: 10.1073/Pnas.1419581111  0.714
2014 Gabai-Kapara E, Lahad A, Kaufman B, Friedman E, Segev S, Renbaum P, Beeri R, Gal M, Grinshpun-Cohen J, Djemal K, Mandell JB, Lee MK, Beller U, Catane R, King MC, et al. Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2. Proceedings of the National Academy of Sciences of the United States of America. 111: 14205-10. PMID 25192939 DOI: 10.1073/pnas.1415979111  0.307
2014 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. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 783-6. PMID 24675673 DOI: 10.1038/Gim.2014.30  0.361
2014 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, ... ... King MC, et al. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. The New England Journal of Medicine. 370: 921-31. PMID 24552285 DOI: 10.1056/Nejmoa1307362  0.34
2014 Tournier I, Marlin R, Walton K, Charbonnier F, Coutant S, Théry JC, Charbonnier C, Spurrell C, Vezain M, Ippolito L, Bougeard G, Roman H, Tinat J, Sabourin JC, Stoppa-Lyonnet D, ... ... King MC, et al. Germline mutations of inhibins in early-onset ovarian epithelial tumors. Human Mutation. 35: 294-7. PMID 24302632 DOI: 10.1002/Humu.22489  0.795
2014 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, et al. Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. 20: 764-75. PMID 24240112 DOI: 10.1158/1078-0432.CCR-13-2287  0.621
2014 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, ... ... King MC, et al. Validation and implementation of targeted capture and sequencing for the detection of actionable mutation, copy number variation, and gene rearrangement in clinical cancer specimens. The Journal of Molecular Diagnostics : Jmd. 16: 56-67. PMID 24189654 DOI: 10.1016/J.Jmoldx.2013.08.004  0.341
2014 Dwadasi S, Tong Y, Walsh T, Danso MA, Ma CX, Silverman P, King M, Perkins SM, Badve SS, Miller K. Cisplatin with or without rucaparib after preoperative chemotherapy in patients with triple-negative breast cancer (TNBC): Hoosier Oncology Group BRE09-146. Journal of Clinical Oncology. 32: 1019-1019. DOI: 10.1200/Jco.2014.32.15_Suppl.1019  0.355
2014 Norquist B, Harrell M, Walsh T, Mandell J, Agnew K, Lee M, Pennington K, King M, Swisher E. Germline mutations in cancer susceptibility genes in brca1 and brca2 negative families with ovarian and breast cancer Gynecologic Oncology. 135: 383. DOI: 10.1016/J.YGYNO.2014.07.011  0.31
2014 Wickramanayake A, Bernier G, Pennil C, Casadei S, Agnew KJ, Stray SM, Mandell J, Garcia RL, Walsh T, King M, Swisher EM. Corrigendum to: Loss of function germline mutations in RAD51D in women with ovarian carcinoma [Gynecol Oncol 127: 552–555, 2012] Gynecologic Oncology. 132: 260. DOI: 10.1016/J.Ygyno.2013.10.017  0.349
2013 Walsh T, Zheng Y, Casadei S, Thornton AM, Lee MK, Churpek M, Huo D, Zvosec C, Liu F, Niu Q, Zhang J, Fackenthal J, King MC, Olopade OI. Inherited mutations in breast cancer genes in African American breast cancer patients revealed by targeted genomic capture and next-generation sequencing. Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology. 31: CRA1501. PMID 28136065 DOI: 10.1200/Jco.2013.31.15_Suppl.Cra1501  0.411
2013 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. American Journal of Human Genetics. 93: 697-710. PMID 24094746 DOI: 10.1016/J.Ajhg.2013.09.004  0.754
2013 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, ... ... King MC, et al. Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. Cell. 154: 518-29. PMID 23911319 DOI: 10.1016/J.Cell.2013.06.049  0.78
2013 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, ... ... King MC, et al. Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. Epilepsia. 54: 1262-9. PMID 23662938 DOI: 10.1111/epi.12203  0.617
2013 Zhang M, Keel SB, Walsh T, Lee M, Colin P, Jeng M, Watts A, Abkowitz JL, King M, Shimamura A. Comprehensive Genomic Evaluation For Inherited Bone Marrow Failure/Myelodysplastic Syndromes Blood. 122: 592-592. DOI: 10.1182/Blood.V122.21.592.592  0.461
2013 Pennington K, Walsh T, Harrell M, Lee M, Pennil C, Casadei S, Agnew K, Garcia R, Rendi M, King M, Swisher E. Deep sequencing reveals a high rate of temporal heterogeneity of somatic mutations in paired primary and recurrent ovarian carcinomas Gynecologic Oncology. 131: 258. DOI: 10.1016/J.Ygyno.2013.07.029  0.343
2013 Pennington K, Walsh T, Harrell M, Lee M, Pennil C, Casadei S, Agnew K, Garcia R, Rendi M, King M, Swisher E. Germline and somatic mutations in homologous recombination genes predict platinum response and improved overall survival in ovarian, fallopian tube, and peritoneal carcinomas Gynecologic Oncology. 131: 257-258. DOI: 10.1016/J.Ygyno.2013.07.028  0.369
2013 Bernier G, Mandell J, Walsh T, Casadei S, Swisher E, King M. Next generation sequencing to identify inherited mutations in all breast cancer genes in three breast cancer cohorts Journal of the American College of Surgeons. 217: S31-S32. DOI: 10.1016/J.Jamcollsurg.2013.07.058  0.393
2012 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, et al. ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. The Journal of Molecular Diagnostics : Jmd. 14: 357-66. PMID 22658618 DOI: 10.1016/J.Jmoldx.2012.03.002  0.642
2012 Chisholm KM, Aubert SD, Freese KP, Zakian VA, King MC, Welcsh PL. A genomewide screen for suppressors of Alu-mediated rearrangements reveals a role for PIF1. Plos One. 7: e30748. PMID 22347400 DOI: 10.1371/Journal.Pone.0030748  0.321
2012 Yariz KO, Walsh T, Akay H, Duman D, Akkaynak AC, King MC, Tekin M. A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss. Clinical Genetics. 81: 289-93. PMID 21348867 DOI: 10.1111/J.1399-0004.2011.01654.X  0.453
2011 Levy-Lahad E, Gabai-Kapara E, Kaufman B, Catane R, Segev S, Renbaum P, Beller U, King M, Lahad A. Identification of BRCA1/BRCA2 carriers by screening in the healthy population and its implications. Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology. 29: 1513. PMID 28023599 DOI: 10.1200/Jco.2011.29.15_Suppl.1513  0.396
2011 Pierce SB, Spurrell CH, Mandell JB, Lee MK, Zeligson S, Bereman MS, Stray SM, Fokstuen S, MacCoss MJ, Levy-Lahad E, King MC, Motulsky AG. Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria. Proceedings of the National Academy of Sciences of the United States of America. 108: 18313-7. PMID 22042873 DOI: 10.1073/Pnas.1115888108  0.763
2011 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. Proceedings of the National Academy of Sciences of the United States of America. 108: 18032-7. PMID 22006311 DOI: 10.1073/Pnas.1115052108  0.643
2011 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, ... ... King MC, et al. Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Genome Biology. 12: R89. PMID 21917145 DOI: 10.1186/Gb-2011-12-9-R89  0.384
2011 Nord AS, Lee M, King MC, Walsh T. Accurate and exact CNV identification from targeted high-throughput sequence data. Bmc Genomics. 12: 184. PMID 21486468 DOI: 10.1186/1471-2164-12-184  0.565
2011 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. Proceedings of the National Academy of Sciences of the United States of America. 108: 6543-8. PMID 21464306 DOI: 10.1073/Pnas.1103471108  0.334
2011 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. European Journal of Human Genetics : Ejhg. 19: 727-31. PMID 21448237 DOI: 10.1038/Ejhg.2011.24  0.745
2011 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 Research. 71: 2222-9. PMID 21285249 DOI: 10.1158/0008-5472.Can-10-3958  0.444
2011 Peixoto A, Santos C, Pinheiro M, Pinto P, Soares MJ, Rocha P, Gusmão L, Amorim A, van der Hout A, Gerdes AM, Thomassen M, Kruse TA, Cruger D, Sunde L, Bignon YJ, ... ... King MC, et al. International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation. Breast Cancer Research and Treatment. 127: 671-9. PMID 20652400 DOI: 10.1007/S10549-010-1036-3  0.329
2010 Sirmaci A, Walsh T, Akay H, Spiliopoulos M, Sakalar YB, HasanefendioÄŸlu-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. American Journal of Human Genetics. 87: 679-86. PMID 21035106 DOI: 10.1016/J.Ajhg.2010.09.018  0.461
2010 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. American Journal of Human Genetics. 87: 282-8. PMID 20673864 DOI: 10.1016/J.Ajhg.2010.07.007  0.337
2010 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. Proceedings of the National Academy of Sciences of the United States of America. 107: 12629-33. PMID 20616022 DOI: 10.1073/Pnas.1007983107  0.651
2010 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, et al. Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51. American Journal of Human Genetics. 87: 101-9. PMID 20602916 DOI: 10.1016/J.Ajhg.2010.05.011  0.562
2010 Sirmaci A, Erbek S, Price J, Huang M, Duman D, Cengiz FB, Bademci G, Tokgöz-Yilmaz S, HiÅŸmi B, OzdaÄŸ H, Oztürk B, KulaksizoÄŸlu S, Yildirim E, Kokotas H, Grigoriadou M, ... ... King MC, et al. A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss. American Journal of Human Genetics. 86: 797-804. PMID 20451170 DOI: 10.1016/J.Ajhg.2010.04.004  0.407
2010 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, ... ... King MC, et al. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nature Genetics. 42: 203-9. PMID 20154674 DOI: 10.1038/Ng.534  0.664
2010 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. European Journal of Human Genetics : Ejhg. 18: 407-13. PMID 19888295 DOI: 10.1038/Ejhg.2009.190  0.793
2009 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, ... ... King MC, et al. Microduplications of 16p11.2 are associated with schizophrenia. Nature Genetics. 41: 1223-7. PMID 19855392 DOI: 10.1038/Ng.474  0.649
2009 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, ... ... King MC, et al. Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15. European Journal of Human Genetics : Ejhg. 17: 554-64. PMID 19107147 DOI: 10.1038/Ejhg.2008.231  0.796
2008 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, ... ... King MC, et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. The New England Journal of Medicine. 359: 1685-99. PMID 18784092 DOI: 10.1056/Nejmoa0805384  0.34
2008 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, ... ... King MC, et al. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (New York, N.Y.). 320: 539-43. PMID 18369103 DOI: 10.1126/Science.1155174  0.787
2007 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, ... ... King MC, et al. Strong association of de novo copy number mutations with autism. Science (New York, N.Y.). 316: 445-9. PMID 17363630 DOI: 10.1126/Science.1138659  0.309
2007 McClellan JM, Susser E, King MC. Schizophrenia: a common disease caused by multiple rare alleles. The British Journal of Psychiatry : the Journal of Mental Science. 190: 194-9. PMID 17329737 DOI: 10.1192/Bjp.Bp.106.025585  0.386
2007 Walsh T, King MC. Ten genes for inherited breast cancer. Cancer Cell. 11: 103-5. PMID 17292821 DOI: 10.1016/j.ccr.2007.01.010  0.32
2006 McClellan JM, Susser E, King MC. Maternal famine, de novo mutations, and schizophrenia. Jama. 296: 582-4. PMID 16882967 DOI: 10.1001/Jama.296.5.582  0.333
2006 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. 295: 1379-88. PMID 16551709 DOI: 10.1001/jama.295.12.1379  0.331
2006 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. Human Genomics. 2: 203-11. PMID 16460646 DOI: 10.1186/1479-7364-2-4-203  0.312
2006 Gallardo M, Silva A, Rubio L, Alvarez C, Torrealba C, Salinas M, Tapia T, Faundez P, Palma L, Riccio ME, Paredes H, Rodriguez M, Cruz A, Rousseau C, King MC, et al. Incidence of BRCA1 and BRCA2 mutations in 54 Chilean families with breast/ovarian cancer, genotype-phenotype correlations. Breast Cancer Research and Treatment. 95: 81-7. PMID 16261400 DOI: 10.1007/s10549-005-9047-1  0.334
2006 Walsh T, Casadei S, Swisher E, Stray SM, Higgins J, Roach KC, Lee MK, King M. Mutations in Families at High Risk for Breast Cancer—Reply Jama. 296: 2091. DOI: 10.1001/Jama.296.17.2091-B  0.383
2005 Mikkelsen TS, Hillier LW, Eichler EE, Zody MC, Jaffe DB, Yang S, Enard W, Hellmann I, Lindblad-Toh K, Altheide TK, Archidiacono N, Bork P, Butler J, Chang JL, Cheng Z, ... ... King M, et al. Initial sequence of the chimpanzee genome and comparison with the human genome Nature. 437: 69-87. PMID 16136131 DOI: 10.1038/Nature04072  0.499
2003 King MC, Marks JH, Mandell JB. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science (New York, N.Y.). 302: 643-6. PMID 14576434 DOI: 10.1126/Science.1088759  0.404
2002 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. Human Genetics. 110: 284-9. PMID 11935342 DOI: 10.1007/S00439-001-0674-2  0.344
2001 Ji HP, King MC. A functional assay for mutations in tumor suppressor genes caused by mismatch repair deficiency Human Molecular Genetics. 10: 2737-2743. PMID 11734538 DOI: 10.1093/Hmg/10.24.2737  0.414
2001 Young TL, Ives E, Lynch E, Person R, Snook S, MacLaren L, Cater T, Griffin A, Fernandez B, Lee MK, King MC, Cator T. Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. Human Molecular Genetics. 10: 2509-14. PMID 11709538 DOI: 10.1093/Hmg/10.22.2509  0.638
2001 Brzovic PS, Rajagopal P, Hoyt DW, King MC, Klevit RE. Structure of a BRCA1-BARD1 heterodimeric RING-RING complex Nature Structural Biology. 8: 833-837. PMID 11573085 DOI: 10.1038/Nsb1001-833  0.304
2001 Lipovich L, Lynch ED, Lee MK, King MC. A novel sodium bicarbonate cotransporter-like gene in an ancient duplicated region: SLC4A9 at 5q31 Genome Biology. 2. PMID 11305939 DOI: 10.1186/Gb-2001-2-4-Research0011  0.377
2001 Welcsh PL, King MC. BRCA1 and BRCA2 and the genetics of breast and ovarian cancer Human Molecular Genetics. 10: 705-713. PMID 11257103 DOI: 10.1093/Hmg/10.7.705  0.458
2000 Payne SR, Newman B, King MC. Complex germline rearrangement of BRCA1 associated with breast and ovarian cancer. Genes, Chromosomes & Cancer. 29: 58-62. PMID 10918394 DOI: 10.1002/1098-2264(2000)9999:9999<::Aid-Gcc1008>3.0.Co;2-F  0.689
1998 Welcsh PL, Schubert EL, King MC. Inherited breast cancer: An emerging picture Clinical Genetics. 54: 447-458. PMID 9894790 DOI: 10.1111/j.1399-0004.1998.tb03764.x  0.309
1998 Lalwani AK, Jackler RK, Sweetow RW, Lynch ED, Raventós H, Morrow J, King MC, León PE. Further characterization of the DFNA1 audiovestibular phenotype. Archives of Otolaryngology--Head & Neck Surgery. 124: 699-702. PMID 9639482 DOI: 10.1001/ARCHOTOL.124.6.699  0.356
1998 Neuhausen SL, Godwin AK, Gershoni-Baruch R, Schubert E, Garber J, Stoppa-Lyonnet D, Olah E, Csokay B, Serova O, Lalloo F, Osorio A, Stratton M, Offit K, Boyd J, Caligo MA, ... ... King MC, et al. Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study. American Journal of Human Genetics. 62: 1381-8. PMID 9585613 DOI: 10.1086/301885  0.347
1998 Lee MK, Lynch ED, King MC. SeqHelp: A program to analyze molecular sequences utilizing common computational resources Genome Research. 8: 306-312. PMID 9521933 DOI: 10.1101/Gr.8.3.306  0.3
1998 Rousseau C, Abrams E, Lee M, Urbano R, King MC. Long terminal repeat and nef gene variants of human immunodeficiency virus type 1 in perinatally infected long-term survivors and rapid progressors. Aids Research and Human Retroviruses. 13: 1611-23. PMID 9430253 DOI: 10.1089/Aid.1997.13.1611  0.303
1997 Schubert EL, Mefford HC, Dann JL, Argonza RH, Hull J, King MC. BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and ovarian cancer. Genetic Testing. 1: 41-6. PMID 10464624  0.343
1997 Lynch ED, Ostermeyer EA, Lee MK, Arena JF, Ji H, Dann J, Swisshelm K, Suchard D, MacLeod PM, Kvinnsland S, Gjertsen BT, Heimdal K, Lubs H, Møller P, King MC. Inherited mutations in PTEN that are associated with breast cancer, Cowden disease, and juvenile polyposis American Journal of Human Genetics. 61: 1254-1260. PMID 9399897 DOI: 10.1086/301639  0.328
1997 Newman B, Millikan RC, King MC. Genetic epidemiology of breast and ovarian cancers Epidemiologic Reviews. 19: 69-79. PMID 9360904 DOI: 10.1093/Oxfordjournals.Epirev.A017948  0.345
1997 Austin MA, Friedlander Y, Newman B, Edwards K, Mayer-Davis EJ, King MC. Genetic influences on changes in body mass index: a longitudinal analysis of women twins. Obesity Research. 5: 326-31. PMID 9285839 DOI: 10.1002/J.1550-8528.1997.Tb00559.X  0.483
1997 Friedlander Y, Austin MA, Newman B, Edwards K, Mayer-Davis EJ, King MC. Heritability of longitudinal changes in coronary-heart-disease risk factors in Women Twins American Journal of Human Genetics. 60: 1502-1512. PMID 9199573 DOI: 10.1086/515462  0.436
1997 King MC. Leaving Kansas ... finding genes in 1997 Nature Genetics. 15: 8-10. PMID 8988159 DOI: 10.1038/Ng0197-8  0.325
1997 Smith TM, Lee MK, Szabo CI, Jerome N, McEuen M, Taylor M, Hood L, King MC. Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1. Genome Research. 6: 1029-49. PMID 8938427 DOI: 10.1101/GR.6.11.1029  0.317
1997 King M. Genetic markers for breast and ovarian cancer Biofutur. 1997: 43. DOI: 10.1016/S0294-3506(97)89237-X  0.369
1996 Szabo CI, Wagner LA, Francisco LV, Roach JC, Argonza R, King MC, Ostrander EA. Human, canine and murine BRCA1 genes: sequence comparison among species. Human Molecular Genetics. 5: 1289-98. PMID 8872468 DOI: 10.1093/Hmg/5.9.1289  0.325
1996 Holt JT, Thompson ME, Szabo C, Robinson-Benion C, Arteaga CL, King MC, Jensen RA. Growth retardation and tumour inhibition by BRCA1. Nature Genetics. 12: 298-302. PMID 8589721 DOI: 10.1038/Ng0396-298  0.371
1995 Szabo CI, King MC. Inherited breast and ovarian cancer Human Molecular Genetics. 4: 1811-1817. PMID 8541881 DOI: 10.1093/Hmg/4.Suppl_1.1811  0.44
1994 Chandrasekharappa SC, Friedman L, King SE, Lee YH, Welsch P, Bowcock AM, Weber BL, King MC, Collins FS. The gene for pancreatic polypeptide (PPY) and the anonymous marker D17S78 are within 45 kb of each other on chromosome 17q21. Genomics. 21: 458-60. PMID 8088848 DOI: 10.1006/Geno.1994.1299  0.374
1994 King MC, Rowell S. Genetic analysis of breast and ovarian cancer in families Cancer Treatment and Research. 71: 51-62. PMID 7946958 DOI: 10.1007/978-1-4615-2592-9_3  0.359
1991 King MC. Localization of the early-onset breast cancer gene Hospital Practice. 26: 121-126. PMID 1918191 DOI: 10.1080/21548331.1991.11705309  0.407
1991 Cavalli-Sforza LL, Wilson AC, Cantor CR, Cook-Deegan RM, King MC. Call for a worldwide survey of human genetic diversity: a vanishing opportunity for the Human Genome Project. Genomics. 11: 490-1. PMID 1769670 DOI: 10.1016/0888-7543(91)90169-F  0.405
1989 Petrakis NL, King MC, Dupuy ME. Lewis negative genotype and breast cancer risk. Lancet (London, England). 2: 41. PMID 2567807 DOI: 10.1016/S0140-6736(89)90274-2  0.57
1988 Newman B, Austin MA, Lee M, King MC. Inheritance of human breast cancer: Evidence for autosomal dominant transmission in high-risk families Proceedings of the National Academy of Sciences of the United States of America. 85: 3044-3048. PMID 3362861 DOI: 10.1073/Pnas.85.9.3044  0.374
1986 Ottman R, Pike MC, King MC, Casagrande JT, Henderson BE. Familial breast cancer in a population-based series. American Journal of Epidemiology. 123: 15-21. PMID 3940434 DOI: 10.1093/Oxfordjournals.Aje.A114209  0.495
1983 King MC, Go RC, Lynch HT, Elston RC, Terasaki PI, Petrakis NL, Rodgers GC, Lattanzio D, Bailey-Wilson J. Genetic epidemiology of breast cancer and associated cancers in high-risk families. II. Linkage analysis. Journal of the National Cancer Institute. 71: 463-7. PMID 6577221 DOI: 10.1093/Jnci/71.3.463  0.618
1983 Ottman R, Pike MC, King MC, Henderson BE. Practical guide for estimating risk for familial breast cancer. Lancet (London, England). 2: 556-8. PMID 6136703 DOI: 10.1016/S0140-6736(83)90580-9  0.497
1981 Petrakis NL, Ernster VL, Sacks ST, King EB, Schweitzer RJ, Hunt TK, King MC. Epidemiology of breast fluid secretion: association with breast cancer risk factors and cerumen type. Journal of the National Cancer Institute. 67: 277-84. PMID 6943366 DOI: 10.1093/Jnci/67.2.277  0.53
1980 King MC, Go RC, Elston RC, Lynch HT, Petrakis NL. Allele increasing susceptibility to human breast cancer may be linked to the glutamate-pyruvate transaminase locus. Science (New York, N.Y.). 208: 406-8. PMID 7367867 DOI: 10.1126/Science.7367867  0.572
1977 Lynch HT, Terasaki PI, Guirgis HA, Sherard BD, Androsh KL, Harris RE, King MC, Petrakis N, Lynch J, Maloney K, Rankin L, Lynch PM, Elston R, Mulcahy G, Platt R. HLA in breast cancer-prone families and the cancer family syndrome. Progress in Clinical and Biological Research. 16: 149-62. PMID 905320  0.556
1977 Petrakis NL, King MC. Genetic markers and cancer epidemiology. Cancer. 39: 1861-6. PMID 851955 DOI: 10.1002/1097-0142(197704)39:4+<1861::Aid-Cncr2820390819>3.0.Co;2-I  0.603
1975 King EB, Barrett D, King MC, Petrakis NL. Cellular composition of the nipple aspirate specimen of breast fluid. I. The benign cells. American Journal of Clinical Pathology. 64: 728-38. PMID 1202937 DOI: 10.1093/Ajcp/64.6.728  0.557
1975 King MC, Wilson AC. Evolution at two levels in humans and chimpanzees. Science (New York, N.Y.). 188: 107-16. PMID 1090005 DOI: 10.1126/Science.1090005  0.352
1975 Wilson AC, Bush GL, Case SM, King MC. Social structuring of mammalian populations and rate of chromosomal evolution. Proceedings of the National Academy of Sciences of the United States of America. 72: 5061-5. PMID 1061091 DOI: 10.1073/Pnas.72.12.5061  0.671
1973 Wallace DG, King MC, Wilson AC. Albumin differences among ranid frogs: Taxonomic and phylogenetic implications Systematic Zoology. 22: 1-13. DOI: 10.2307/2412373  0.367
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