 Germ-Line Mutation
"Germ-Line Mutation" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.
| Descriptor ID |
D018095
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| MeSH Number(s) |
G05.365.590.350
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| Concept/Terms |
Germ-Line Mutation- Germ-Line Mutation
- Germ Line Mutation
- Germline Mutation
- Germline Mutations
- Mutation, Germline
- Mutations, Germline
- Mutation, Germ-Line
- Germ-Line Mutations
- Mutation, Germ Line
- Mutations, Germ-Line
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Below are MeSH descriptors whose meaning is more general than "Germ-Line Mutation".
Below are MeSH descriptors whose meaning is more specific than "Germ-Line Mutation".
This graph shows the total number of publications written about "Germ-Line Mutation" by people in UAMS Profiles by year, and whether "Germ-Line Mutation" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
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| 2025 | 1 | 0 | 1 | | 2024 | 3 | 2 | 5 | | 2021 | 1 | 1 | 2 | | 2020 | 2 | 3 | 5 | | 2019 | 2 | 3 | 5 | | 2018 | 1 | 2 | 3 | | 2017 | 0 | 2 | 2 | | 2016 | 4 | 0 | 4 | | 2015 | 0 | 1 | 1 | | 2013 | 1 | 1 | 2 | | 2012 | 4 | 1 | 5 | | 2011 | 5 | 1 | 6 | | 2010 | 1 | 2 | 3 | | 2008 | 2 | 0 | 2 | | 2007 | 0 | 2 | 2 | | 2006 | 0 | 1 | 1 | | 2005 | 0 | 2 | 2 | | 2004 | 2 | 1 | 3 |
To return to the timeline, click here.
Below are the most recent publications written about "Germ-Line Mutation" by people in Profiles over the past ten years.
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Fiorica PN, Golmard L, Kim J, Bao R, Lin FY, Roy A, Pribnow A, Perrino MR, Masliah-Planchon J, Michalak-Provost S, Wong J, Filser M, Stoppa-Lyonnet D, Bourdeaut F, Brahimi A, Ingster O, Saulnier Sholler G, Jackson SA, Sasaki MM, Fowler T, Ng A, Corbett RJ, Kaufman RS, Haley JS, Carey DJ, Huang KL, Diskin SJ, Rokita JL, Al-Kateb H, McGee RB, Schiffman JD, Chen KS, Stewart DR, Williams Parsons D, Plon SE, Schultz KAP, Onel K. Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition. Clin Cancer Res. 2025 Apr 14; 31(8):1491-1503.
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Rosenberger LH, Thomas SM, Hieken TJ, Gallagher KK, Spanheimer PM, Neuman HB, Weiss AC, King TA, Wong J, Tong BS, Nash AL, Frazier MP, Menendez CS, Hwang ES, Jakub JW, Plichta JK. Germline genetic mutations in a multi-center cohort of 248 phyllodes tumors. Breast Cancer Res Treat. 2025 Jan; 209(2):275-282.
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Ramsey ML, Heald B, Gokun Y, Baker J, Groce JR, Han S, Hart PA, Krishna SG, Lara LF, Lee PJ, Papachristou GI, Pearlman R, Poll S, Roberts ME, Stanich PP. Germline multigene panel testing in acute and chronic pancreatitis. PLoS One. 2024; 19(8):e0307076.
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Sookdeo J, Wang L, Bishop MW, Grieve L, Perrino M, Abdelhafeez AH, Khalatbari H, Malik F, Koo SC. SMARCA4-deficient primary bone sarcoma with "teratoid" features in a rhabdoid tumor predisposition syndrome patient. Virchows Arch. 2025 Mar; 486(3):611-616.
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Summey RM, Gornstein E, Decker B, Dougherty KC, Rader JS, Hopp E. Landscape of potential germline pathogenic variants in select cancer susceptibility genes in patients with adult-type ovarian granulosa cell tumors. Cancer Med. 2024 Jun; 13(12):e7340.
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Schmit SL, Tsai YY, Bonner JD, Sanz-Pamplona R, Joshi AD, Ugai T, Lindsey SS, Melas M, McDonnell KJ, Idos GE, Walker CP, Qu C, Kast WM, Da Silva DM, Glickman JN, Chan AT, Giannakis M, Nowak JA, Rennert HS, Robins HS, Ogino S, Greenson JK, Moreno V, Rennert G, Gruber SB. Germline genetic regulation of the colorectal tumor immune microenvironment. BMC Genomics. 2024 Apr 25; 25(1):409.
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Reed MR, Lyle AG, De Loose A, Maddukuri L, Learned K, Beale HC, Kephart ET, Cheney A, van den Bout A, Lee MP, Hundley KN, Smith AM, DesRochers TM, Vibat CRT, Gokden M, Salama S, Wardell CP, Eoff RL, Vaske OM, Rodriguez A. A Functional Precision Medicine Pipeline Combines Comparative Transcriptomics and Tumor Organoid Modeling to Identify Bespoke Treatment Strategies for Glioblastoma. Cells. 2021 12 02; 10(12).
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Srinivasan P, Bandlamudi C, Jonsson P, Kemel Y, Chavan SS, Richards AL, Penson AV, Bielski CM, Fong C, Syed A, Jayakumaran G, Prasad M, Hwee J, Sumer SO, de Bruijn I, Li X, Gao J, Schultz N, Cambria R, Galle J, Mukherjee S, Vijai J, Cadoo KA, Carlo MI, Walsh MF, Mandelker D, Ceyhan-Birsoy O, Shia J, Zehir A, Ladanyi M, Hyman DM, Zhang L, Offit K, Robson ME, Solit DB, Stadler ZK, Berger MF, Taylor BS. The context-specific role of germline pathogenicity in tumorigenesis. Nat Genet. 2021 11; 53(11):1577-1585.
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Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, L?ttgen S, Denecke J, Strom TM, Monaghan KG, Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, G?nthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, ?unap K, Ilves P, Innes AM, Kernohan KD, Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H, Martin MG, Martinez-Agosto JA, Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, V?llo A, Prescott T, Fagerberg C, Laulund LW, Larsen MJ, Byler M, Lebel RR, Hurst AC, Dean J, Schrier Vergano SA, Norman J, Mercimek-Andrews S, Neira J, Van Allen MI, Longo N, Sellars E, Louie RJ, Cathey SS, Brokamp E, Heron D, Snyder M, Vanderver A, Simon C, de la Cruz X, Padilla N, Crump JG, Chung W, Garcia B, Hakonarson HH, Bhoj EJ. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. Sci Adv. 2020 12; 6(49).
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Stremenova Spegarova J, Lawless D, Mohamad SMB, Engelhardt KR, Doody G, Shrimpton J, Rensing-Ehl A, Ehl S, Rieux-Laucat F, Cargo C, Griffin H, Mikulasova A, Acres M, Morgan NV, Poulter JA, Sheridan EG, Chetcuti P, O'Riordan S, Anwar R, Carter CR, Przyborski S, Windebank K, Cant AJ, Lako M, Bacon CM, Savic S, Hambleton S. Germline TET2 loss of function causes childhood immunodeficiency and lymphoma. Blood. 2020 08 27; 136(9):1055-1066.
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Silvestri V, Leslie G, Barnes DR, Agnarsson BA, Aittom?ki K, Alducci E, Andrulis IL, Barkardottir RB, Barroso A, Barrowdale D, Benitez J, Bonanni B, Borg A, Buys SS, Cald?s T, Caligo MA, Capalbo C, Campbell I, Chung WK, Claes KBM, Colonna SV, Cortesi L, Couch FJ, de la Hoya M, Diez O, Ding YC, Domchek S, Easton DF, Ejlertsen B, Engel C, Evans DG, Feliubadal? L, Foretova L, Fostira F, G?czi L, Gerdes AM, Glendon G, Godwin AK, Goldgar DE, Hahnen E, Hogervorst FBL, Hopper JL, Hulick PJ, Isaacs C, Izquierdo A, James PA, Janavicius R, Jensen UB, John EM, Joseph V, Konstantopoulou I, Kurian AW, Kwong A, Landucci E, Lesueur F, Loud JT, Machackova E, Mai PL, Majidzadeh-A K, Manoukian S, Montagna M, Moserle L, Mulligan AM, Nathanson KL, Nevanlinna H, Ngeow J, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Osorio A, Papi L, Park SK, Pedersen IS, Perez-Segura P, Petersen AH, Pinto P, Porfirio B, Pujana MA, Radice P, Rantala J, Rashid MU, Rosenzweig B, Rossing M, Santamari?a M, Schmutzler RK, Senter L, Simard J, Singer CF, Solano AR, Southey MC, Steele L, Steinsnyder Z, Stoppa-Lyonnet D, Tan YY, Teixeira MR, Teo SH, Terry MB, Thomassen M, Toland AE, Torres-Esquius S, Tung N, van Asperen CJ, Vega A, Viel A, Vierstraete J, Wappenschmidt B, Weitzel JN, Wieme G, Yoon SY, Zorn KK, McGuffog L, Parsons MT, Hamann U, Greene MH, Kirk JA, Neuhausen SL, Rebbeck TR, Tischkowitz M, Chenevix-Trench G, Antoniou AC, Friedman E, Ottini L. Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). JAMA Oncol. 2020 08 01; 6(8):1218-1230.
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Rosenberger LH, Thomas SM, Nimbkar SN, Hieken TJ, Ludwig KK, Jacobs LK, Miller ME, Gallagher KK, Wong J, Neuman HB, Tseng J, Hassinger TE, Jakub JW. Germline Genetic Mutations in a Multi-center Contemporary Cohort of 550 Phyllodes Tumors: An Opportunity for Expanded Multi-gene Panel Testing. Ann Surg Oncol. 2020 Oct; 27(10):3633-3640.
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Cloutier JM, Shalin SC, Lindberg M, Gardner JM, Fernandez-Pol S, Zaba L, Novoa R, Brown RA. Cutaneous pleomorphic fibromas arising in patients with germline TP53 mutations. J Cutan Pathol. 2020 Aug; 47(8):734-741.
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Moore KN, Zorn KK. Germline and Somatic Testing in Ovarian Cancer: Shifting Sands of Recommendations. Gynecol Oncol. 2020 03; 156(3):515-516.
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Yadala V, Jafri H, Legenza MT, Tirona M. Breast cancer in a patient with Birt-Hogg-Dub? syndrome (BHDS) with dramatic response to neoadjuvant chemotherapy. BMJ Case Rep. 2020 Feb 04; 13(2).
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Duncan CJA, Thompson BJ, Chen R, Rice GI, Gothe F, Young DF, Lovell SC, Shuttleworth VG, Brocklebank V, Corner B, Skelton AJ, Bondet V, Coxhead J, Duffy D, Fourrage C, Livingston JH, Pavaine J, Cheesman E, Bitetti S, Grainger A, Acres M, Innes BA, Mikulasova A, Sun R, Hussain R, Wright R, Wynn R, Zarhrate M, Zeef LAH, Wood K, Hughes SM, Harris CL, Engelhardt KR, Crow YJ, Randall RE, Kavanagh D, Hambleton S, Briggs TA. Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2. Sci Immunol. 2019 12 13; 4(42).
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Chen W, Pearlman R, Hampel H, Pritchard CC, Markow M, Arnold C, Knight D, Frankel WL. MSH6 immunohistochemical heterogeneity in colorectal cancer: comparative sequencing from different tumor areas. Hum Pathol. 2020 02; 96:104-111.
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Luo X, Feurstein S, Mohan S, Porter CC, Jackson SA, Keel S, Chicka M, Brown AL, Kesserwan C, Agarwal A, Luo M, Li Z, Ross JE, Baliakas P, Pineda-Alvarez D, DiNardo CD, Bertuch AA, Mehta N, Vulliamy T, Wang Y, Nichols KE, Malcovati L, Walsh MF, Rawlings LH, McWeeney SK, Soulier J, Raimbault A, Routbort MJ, Zhang L, Ryan G, Speck NA, Plon SE, Wu D, Godley LA. ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants. Blood Adv. 2019 10 22; 3(20):2962-2979.
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Jonsson P, Lin AL, Young RJ, DiStefano NM, Hyman DM, Li BT, Berger MF, Zehir A, Ladanyi M, Solit DB, Arnold AG, Stadler ZK, Mandelker D, Goldberg ME, Chmielecki J, Pourmaleki M, Ogilvie SQ, Chavan SS, McKeown AT, Manne M, Hyde A, Beal K, Yang TJ, Nolan CP, Pentsova E, Omuro A, Gavrilovic IT, Kaley TJ, Diamond EL, Stone JB, Grommes C, Boire A, Daras M, Piotrowski AF, Miller AM, Gutin PH, Chan TA, Tabar VS, Brennan CW, Rosenblum M, DeAngelis LM, Mellinghoff IK, Taylor BS. Genomic Correlates of Disease Progression and Treatment Response in Prospectively Characterized Gliomas. Clin Cancer Res. 2019 09 15; 25(18):5537-5547.
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Liu JF, Barry WT, Birrer M, Lee JM, Buckanovich RJ, Fleming GF, Rimel BJ, Buss MK, Nattam SR, Hurteau J, Luo W, Curtis J, Whalen C, Kohn EC, Ivy SP, Matulonis UA. Overall survival and updated progression-free survival outcomes in a randomized phase II study of combination cediranib and olaparib versus olaparib in relapsed platinum-sensitive ovarian cancer. Ann Oncol. 2019 04 01; 30(4):551-557.
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Larsen V, Barlow WE, Yang JJ, Zhu Q, Liu S, Kwan ML, Ergas IJ, Roh JM, Hutchins LF, Kadlubar SA, Albain KS, Rae JM, Yeh IT, Ravdin PM, Martino S, Lyss AP, Osborne CK, Hortobagyi GN, Kushi LH, Hayes DF, Ambrosone CB, Yao S. Germline Genetic Variants in GATA3 and Breast Cancer Treatment Outcomes in SWOG S8897 Trial and the Pathways Study. Clin Breast Cancer. 2019 08; 19(4):225-235.e2.
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Carter NJ, Marshall ML, Susswein LR, Zorn KK, Hiraki S, Arvai KJ, Torene RI, McGill AK, Yackowski L, Murphy PD, Xu Z, Solomon BD, Klein RT, Hruska KS. Germline pathogenic variants identified in women with ovarian tumors. Gynecol Oncol. 2018 12; 151(3):481-488.
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Dizon DS, Dias-Santagata D, Bregar A, Sullivan L, Filipi J, DiTavi E, Miller L, Ellisen L, Birrer M, DelCarmen M. Complete Remission Following Pembrolizumab in a Woman with Mismatch Repair-Deficient Endometrial Cancer and a Germline BRCA1 Mutation. Oncologist. 2018 06; 23(6):650-653.
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Wardell CP, Fujita M, Yamada T, Simbolo M, Fassan M, Karlic R, Polak P, Kim J, Hatanaka Y, Maejima K, Lawlor RT, Nakanishi Y, Mitsuhashi T, Fujimoto A, Furuta M, Ruzzenente A, Conci S, Oosawa A, Sasaki-Oku A, Nakano K, Tanaka H, Yamamoto Y, Michiaki K, Kawakami Y, Aikata H, Ueno M, Hayami S, Gotoh K, Ariizumi SI, Yamamoto M, Yamaue H, Chayama K, Miyano S, Getz G, Scarpa A, Hirano S, Nakamura T, Nakagawa H. Genomic characterization of biliary tract cancers identifies driver genes and predisposing mutations. J Hepatol. 2018 05; 68(5):959-969.
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Roberts ME, Jackson SA, Susswein LR, Zeinomar N, Ma X, Marshall ML, Stettner AR, Milewski B, Xu Z, Solomon BD, Terry MB, Hruska KS, Klein RT, Chung WK. MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer. Genet Med. 2018 10; 20(10):1167-1174.
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Ikoma N, Cloyd J, Badgwell BD, Agnes A, Rodriguez-Bigas M, Ajani JA, You YN. Clinical features and survival of gastric cancer patients with DNA mismatch repair deficiency. J Surg Oncol. 2018 Mar; 117(4):707-709.
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Matulonis UA, Wulf GM, Barry WT, Birrer M, Westin SN, Farooq S, Bell-McGuinn KM, Obermayer E, Whalen C, Spagnoletti T, Luo W, Liu H, Hok RC, Aghajanian C, Solit DB, Mills GB, Taylor BS, Won H, Berger MF, Palakurthi S, Liu J, Cantley LC, Winer E. Phase I dose escalation study of the PI3kinase pathway inhibitor BKM120 and the oral poly (ADP ribose) polymerase (PARP) inhibitor olaparib for the treatment of high-grade serous ovarian and breast cancer. Ann Oncol. 2017 03 01; 28(3):512-518.
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Rebbeck TR, Friebel TM, Mitra N, Wan F, Chen S, Andrulis IL, Apostolou P, Arnold N, Arun BK, Barrowdale D, Benitez J, Berger R, Berthet P, Borg A, Buys SS, Caldes T, Carter J, Chiquette J, Claes KB, Couch FJ, Cybulski C, Daly MB, de la Hoya M, Diez O, Domchek SM, Nathanson KL, Durda K, Ellis S, Evans DG, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Glendon G, Godwin AK, Greene MH, Gronwald J, Hahnen E, Hallberg E, Hamann U, Hansen TV, Imyanitov EN, Isaacs C, Jakubowska A, Janavicius R, Jaworska-Bieniek K, John EM, Karlan BY, Kaufman B, Investigators K, Kwong A, Laitman Y, Lasset C, Lazaro C, Lester J, Loman N, Lubinski J, Manoukian S, Mitchell G, Montagna M, Neuhausen SL, Nevanlinna H, Niederacher D, Nussbaum RL, Offit K, Olah E, Olopade OI, Park SK, Piedmonte M, Radice P, Rappaport-Fuerhauser C, Rookus MA, Seynaeve C, Simard J, Singer CF, Soucy P, Southey M, Stoppa-Lyonnet D, Sukiennicki G, Szabo CI, Tancredi M, Teixeira MR, Teo SH, Terry MB, Thomassen M, Tihomirova L, Tischkowitz M, Toland AE, Toloczko-Grabarek A, Tung N, van Rensburg EJ, Villano D, Wang-Gohrke S, Wappenschmidt B, Weitzel JN, Zidan J, Zorn KK, McGuffog L, Easton D, Chenevix-Trench G, Antoniou AC, Ramus SJ. Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women. Breast Cancer Res. 2016 11 11; 18(1):112.
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Petrovski S, K?ry S, Myers CT, Anyane-Yeboa K, Cogn? B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, Zhu X, Ren Z, Andrews I, Dudding-Byth T, Schneider AL, Wallace G, Rosen ABI, Schelley S, Enns GM, Corre P, Dalton J, Mercier S, Latypova X, Schmitt S, Guzman E, Moore C, Bier L, Heinzen EL, Karachunski P, Shur N, Grebe T, Basinger A, Nguyen JM, B?zieau S, Wierenga K, Bernstein JA, Scheffer IE, Rosenfeld JA, Mefford HC, Isidor B, Goldstein DB. Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. Am J Hum Genet. 2016 05 05; 98(5):1001-1010.
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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.
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Yeom M, Kim IH, Kim JK, Kang K, Eoff RL, Guengerich FP, Choi JY. Effects of Twelve Germline Missense Variations on DNA Lesion and G-Quadruplex Bypass Activities of Human DNA Polymerase REV1. Chem Res Toxicol. 2016 Mar 21; 29(3):367-79.
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Zarate YA, Jones JR, Jones MA, Millan F, Juusola J, Vertino-Bell A, Schaefer GB, Kruer MC. Lessons from a pair of siblings with BPAN. Eur J Hum Genet. 2016 07; 24(7):1080-3.
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