My Bibliography

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Lolas-Hamameh S, Lieberman S, Sarahneh A, Walsh T, Lee MK, Gulsuner S, Rabie G, Beeri R, Aburayyan A, Mandell JB, Fridman H, Lazer-Derbeko G, Klopstock T, Freireich O, Lahad A, King MC, Levy-Lahad E, Kanaan MN. TP53 missense allele predisposing to high risk of breast cancer but not pediatric cancers. J Natl Cancer Inst. 2025 May 1;117(5):1069-1073. doi: 10.1093/jnci/djae334. PubMed PMID: 39673796; PubMed Central PMCID: PMC13120828.

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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, Sunshine AB, Susser ES, Walsh CA, Wootton O, King MC. An evolutionary perspective on complex neuropsychiatric disease. Neuron. 2024 Jan 3;112(1):7-24. doi: 10.1016/j.neuron.2023.10.037. Epub 2023 Nov 27. Review. PubMed PMID: 38016473; PubMed Central PMCID: PMC10842497.

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Benoit C, Carlson RJ, King MC, Horn DL, Rubinstein JT. Behavioral characterization of the cochlear amplifier lesion due to loss of function of stereocilin (STRC) in human subjects. Hear Res. 2023 Nov;439:108898. doi: 10.1016/j.heares.2023.108898. Epub 2023 Oct 20. PubMed PMID: 37890241; PubMed Central PMCID: PMC10756798.

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Aburayyan A, Carlson RJ, Rabie GN, Lee MK, Gulsuner S, Walsh T, Avraham KB, Kanaan MN, King MC. A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss. Hum Mol Genet. 2023 Jul 4;32(14):2265-2268. doi: 10.1093/hmg/ddad066. PubMed PMID: 37074134; PubMed Central PMCID: PMC10321379.

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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 for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes. JAMA Otolaryngol Head Neck Surg. 2023 Mar 1;149(3):212-222. doi: 10.1001/jamaoto.2022.4463. PubMed PMID: 36633841; PubMed Central PMCID: PMC9857764.

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Freund T, Baxter SK, Walsh T, Golan H, Kapelushnik J, Abramsohn-Goldenberg M, Benor S, Sarid N, Ram R, Alcalay Y, Segel R, Renbaum P, Stepensky P, King MC, Torgerson TR, Hagin D. Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population. J Clin Immunol. 2023 Jan;43(1):151-164. doi: 10.1007/s10875-022-01358-7. Epub 2022 Sep 5. PubMed PMID: 36063261.

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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. doi: 10.1007/s10549-022-06560-0. Epub 2022 Mar 30. PubMed PMID: 35353237; PubMed Central PMCID: PMC9090684.

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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 Sep 1;42(8):e1143-e1151. doi: 10.1097/MAO.0000000000003176. PubMed PMID: 34049328; PubMed Central PMCID: PMC8486042.

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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 Aug;59(8):759-767. doi: 10.1136/jmedgenet-2021-107884. Epub 2021 Jul 28. PubMed PMID: 34321325.

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Scott JC, Moore TM, Stein DJ, Pretorius A, Zingela Z, Nagdee M, Ngqengelele L, Campbell M, Sibeko G, King MC, McClellan JM, Port AM, Jackson C, Ruparel K, Susser ES, Gur RC. Adaptation and validation of a computerized neurocognitive battery in the Xhosa of South Africa. Neuropsychology. 2021 Sep;35(6):581-594. doi: 10.1037/neu0000742. Epub 2021 Jul 5. PubMed PMID: 34242045; PubMed Central PMCID: PMC9531580.

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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, University of Washington Center for Mendelian Genomics, 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 Aug 5;108(8):1436-1449. doi: 10.1016/j.ajhg.2021.06.006. Epub 2021 Jul 2. PubMed PMID: 34216551; PubMed Central PMCID: PMC8387463.

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McClellan JM, King MC. A tipping point in neuropsychiatric genetics. Neuron. 2021 May 5;109(9):1411-1413. doi: 10.1016/j.neuron.2021.04.002. PubMed PMID: 33957066.

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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 Jan;149(1):327-339. doi: 10.1016/j.jaci.2021.04.005. Epub 2021 Apr 20. PubMed PMID: 33864888; PubMed Central PMCID: PMC8526646.

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Kedar I, Walsh L, Levi GR, Lieberman S, Shtaya AA, Nathan SN, Lagovsky I, Tomashov-Matar R, Goldenberg M, Basel-Salmon L, Katz L, Aleme O, Peretz TY, Hubert A, Rothstein D, Castellvi-Bel S, Walsh T, King MC, Pritchard CC, Levi Z, Half E, Laish I, Goldberg Y. A novel founder MSH2 deletion in Ethiopian Jews is mainly associated with early-onset colorectal cancer. Fam Cancer. 2022 Apr;21(2):181-188. doi: 10.1007/s10689-021-00249-x. Epub 2021 Apr 10. PubMed PMID: 33837488.

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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. doi: 10.1038/s41523-021-00240-w. PubMed PMID: 33753748; PubMed Central PMCID: PMC7985189.

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King MC. 2020 William Allan Award address: genetics as a way of thinking-cultural inheritance from our teachers. Am J Hum Genet. 2021 Mar 4;108(3):386-391. doi: 10.1016/j.ajhg.2021.02.007. PubMed PMID: 33667391; PubMed Central PMCID: PMC8175869.

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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 Aug;35(8):2439-2444. doi: 10.1038/s41375-021-01137-0. Epub 2021 Jan 28. PubMed PMID: 33510405; PubMed Central PMCID: PMC8725861.

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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. doi: 10.1038/s41523-020-00214-4. PubMed PMID: 33479248; PubMed Central PMCID: PMC7820260.

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Munoz-Zuluaga CA, Sardi A, Sittig M, Gushchin V, King MC, Nieroda C, Lopez-Ramirez F, Diaz-Montes TP. Critical Analysis of Stage IV Epithelial Ovarian Cancer Patients after Treatment with Neoadjuvant Chemotherapy followed by Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy (CRS/HIPEC). Int J Surg Oncol. 2020;2020:1467403. doi: 10.1155/2020/1467403. eCollection 2020. PubMed PMID: 33381312; PubMed Central PMCID: PMC7759396.

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Levy-Lahad E, King MC. Hiding in Plain Sight - Somatic Mutation in Human Disease. N Engl J Med. 2020 Dec 31;383(27):2680-2682. doi: 10.1056/NEJMe2030754. Epub 2020 Oct 27. PubMed PMID: 33108100.

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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 Dec;58(12):850-852. doi: 10.1136/jmedgenet-2020-107320. Epub 2020 Oct 15. PubMed PMID: 33060287; PubMed Central PMCID: PMC8046837.

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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 Oct 13;4(19):4873-4886. doi: 10.1182/bloodadvances.2020001721. PubMed PMID: 33035329; PubMed Central PMCID: PMC7556157.

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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 BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities. Cold Spring Harb Mol Case Stud. 2020 Oct;6(5). doi: 10.1101/mcs.a005652. Print 2020 Oct. PubMed PMID: 33028645; PubMed Central PMCID: PMC7552932.

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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. doi: 10.1371/journal.pone.0239197. eCollection 2020. PubMed PMID: 32997669; PubMed Central PMCID: PMC7526916.

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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 Oct;98(4):353-364. doi: 10.1111/cge.13817. Epub 2020 Aug 24. PubMed PMID: 33111345; PubMed Central PMCID: PMC8045518.

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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 Aug 18;117(33):20070-20076. doi: 10.1073/pnas.2009628117. Epub 2020 Aug 3. PubMed PMID: 32747562; PubMed Central PMCID: PMC7443947.

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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 Oct;21(4):259-267. doi: 10.1007/s10048-020-00615-4. Epub 2020 May 27. PubMed PMID: 32462292.

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Gulsuner S, Stein DJ, Susser ES, Sibeko G, Pretorius A, Walsh T, Majara L, Mndini MM, Mqulwana SG, Ntola OA, Casadei S, Ngqengelele LL, Korchina V, van der Merwe C, Malan M, Fader KM, Feng M, Willoughby E, Muzny D, Baldinger A, Andrews HF, Gur RC, Gibbs RA, Zingela Z, Nagdee M, Ramesar RS, King MC, McClellan JM. Genetics of schizophrenia in the South African Xhosa. Science. 2020 Jan 31;367(6477):569-573. doi: 10.1126/science.aay8833. PubMed PMID: 32001654; PubMed Central PMCID: PMC9558321.

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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 May;22(5):825-830. doi: 10.1038/s41436-019-0740-6. Epub 2020 Jan 8. PubMed PMID: 31911673; PubMed Central PMCID: PMC7200594.

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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 26;116(52):26798-26807. doi: 10.1073/pnas.1915608116. Epub 2019 Dec 16. PubMed PMID: 31843900; PubMed Central PMCID: PMC6936554.

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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, Davidorf FH, White P, Stacey AW, Scarth J, Fewings E, Tischkowitz M, King MC, Hayward NK, Cebulla CM. Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma. Ophthalmology. 2020 May;127(5):668-678. doi: 10.1016/j.ophtha.2019.11.009. Epub 2019 Nov 18. PubMed PMID: 32081490; PubMed Central PMCID: PMC7183432.

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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 Jul;10(7):e00054. doi: 10.14309/ctg.0000000000000054. PubMed PMID: 31259752; PubMed Central PMCID: PMC6708668.

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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 Apr 30;116(18):9008-9013. doi: 10.1073/pnas.1821510116. Epub 2019 Apr 11. PubMed PMID: 30975761; PubMed Central PMCID: PMC6500142.

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Zangen D, King MC, Levy-Lahad E. BRCA2 in Ovarian Development and Function. Reply. N Engl J Med. 2019 Mar 14;380(11):1087. doi: 10.1056/NEJMc1813800. PubMed PMID: 30865814.

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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 Jan 1;28(1):133-142. doi: 10.1093/hmg/ddy334. PubMed PMID: 30247636; PubMed Central PMCID: PMC6298239.

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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 Sep 13;379(11):1042-1049. doi: 10.1056/NEJMoa1800024. PubMed PMID: 30207912; PubMed Central PMCID: PMC6230262.

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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 Mar 15;25(6):1786-1794. doi: 10.1158/1078-0432.CCR-18-0200. Epub 2018 Aug 28. PubMed PMID: 30154229; PubMed Central PMCID: PMC6395536.

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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 Dec;26(12):1840-1847. doi: 10.1038/s41431-018-0218-z. Epub 2018 Aug 23. PubMed PMID: 30139988; PubMed Central PMCID: PMC6244407.

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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 Oct 1;36(28):2820-2825. doi: 10.1200/JCO.2018.78.3977. Epub 2018 Aug 21. PubMed PMID: 30130155; PubMed Central PMCID: PMC6161833.

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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 Sep 13;132(11):1211-1215. doi: 10.1182/blood-2018-03-837336. Epub 2018 Jul 20. PubMed PMID: 30030275; PubMed Central PMCID: PMC6137559.

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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 Jul 1;4(7):1012-1013. doi: 10.1001/jamaoncol.2018.0616. PubMed PMID: 29800948.

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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 Jul 5;103(1):19-29. doi: 10.1016/j.ajhg.2018.05.001. Epub 2018 Jun 7. PubMed PMID: 29887214; PubMed Central PMCID: PMC6035155.

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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 Sep;55(9):599-606. doi: 10.1136/jmedgenet-2018-105330. Epub 2018 May 15. PubMed PMID: 29764912.

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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 May 15;115(20):5241-5246. doi: 10.1073/pnas.1801796115. Epub 2018 Apr 30. PubMed PMID: 29712865; PubMed Central PMCID: PMC5960323.

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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 Feb 13;115(7):1558-1563. doi: 10.1073/pnas.1721290115. Epub 2018 Jan 31. PubMed PMID: 29386386; PubMed Central PMCID: PMC5816211.

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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 Feb 6;115(6):1316-1321. doi: 10.1073/pnas.1715467115. Epub 2018 Jan 24. PubMed PMID: 29367421; PubMed Central PMCID: PMC5819413.

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Baxter SK, King MC. A Time to Sequence. JAMA Pediatr. 2017 Dec 4;171(12):e173435. doi: 10.1001/jamapediatrics.2017.3435. Epub 2017 Dec 4. PubMed PMID: 28973099.

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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 Dec 1;3(12):1647-1653. doi: 10.1001/jamaoncol.2017.1996. PubMed PMID: 28727877; PubMed Central PMCID: PMC5824270.

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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 Feb 15;24(4):777-783. doi: 10.1158/1078-0432.CCR-17-1327. Epub 2017 Nov 30. PubMed PMID: 29191972; PubMed Central PMCID: PMC5815909.

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McClellan JM, Lehner T, King MC. Gene Discovery for Complex Traits: Lessons from Africa. Cell. 2017 Oct 5;171(2):261-264. doi: 10.1016/j.cell.2017.09.037. PubMed PMID: 28985555.