Genetic Predisposition to Disease
"Genetic Predisposition to Disease" 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.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
Descriptor ID |
D020022
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MeSH Number(s) |
C23.550.291.687.500 G05.380.355
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Concept/Terms |
Genetic Predisposition to Disease- Genetic Predisposition to Disease
- Genetic Susceptibility
- Genetic Susceptibilities
- Susceptibilities, Genetic
- Susceptibility, Genetic
- Genetic Predisposition
- Genetic Predispositions
- Predispositions, Genetic
- Predisposition, Genetic
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Below are MeSH descriptors whose meaning is more general than "Genetic Predisposition to Disease".
Below are MeSH descriptors whose meaning is more specific than "Genetic Predisposition to Disease".
This graph shows the total number of publications written about "Genetic Predisposition to Disease" by people in UAMS Profiles by year, and whether "Genetic Predisposition to Disease" 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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2022 | 3 | 4 | 7 | 2021 | 5 | 8 | 13 | 2020 | 4 | 19 | 23 | 2019 | 14 | 11 | 25 | 2018 | 15 | 21 | 36 | 2017 | 12 | 8 | 20 | 2016 | 10 | 11 | 21 | 2015 | 11 | 16 | 27 | 2014 | 10 | 20 | 30 | 2013 | 10 | 17 | 27 | 2012 | 6 | 19 | 25 | 2011 | 8 | 19 | 27 | 2010 | 7 | 10 | 17 | 2009 | 3 | 11 | 14 | 2008 | 4 | 9 | 13 | 2007 | 3 | 12 | 15 | 2006 | 3 | 13 | 16 | 2005 | 4 | 4 | 8 | 2004 | 3 | 6 | 9 | 2003 | 3 | 7 | 10 | 2002 | 5 | 4 | 9 | 2001 | 1 | 1 | 2 | 2000 | 3 | 2 | 5 | 1999 | 3 | 3 | 6 | 1990 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Genetic Predisposition to Disease" by people in Profiles over the past ten years.
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Rashkin SR, Cleves M, Shaw GM, Nembhard WN, Nestoridi E, Jenkins MM, Romitti PA, Lou XY, Browne ML, Mitchell LE, Olshan AF, Lomangino K, Bhattacharyya S, Witte JS, Hobbs CA. A genome-wide association study of obstructive heart defects among participants in the National Birth Defects Prevention Study. Am J Med Genet A. 2022 08; 188(8):2303-2314.
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Singh T, Poterba T, Curtis D, Akil H, Al Eissa M, Barchas JD, Bass N, Bigdeli TB, Breen G, Bromet EJ, Buckley PF, Bunney WE, Bybjerg-Grauholm J, Byerley WF, Chapman SB, Chen WJ, Churchhouse C, Craddock N, Cusick CM, DeLisi L, Dodge S, Escamilla MA, Eskelinen S, Fanous AH, Faraone SV, Fiorentino A, Francioli L, Gabriel SB, Gage D, Gagliano Taliun SA, Ganna A, Genovese G, Glahn DC, Grove J, Hall MH, Hämäläinen E, Heyne HO, Holi M, Hougaard DM, Howrigan DP, Huang H, Hwu HG, Kahn RS, Kang HM, Karczewski KJ, Kirov G, Knowles JA, Lee FS, Lehrer DS, Lescai F, Malaspina D, Marder SR, McCarroll SA, McIntosh AM, Medeiros H, Milani L, Morley CP, Morris DW, Mortensen PB, Myers RM, Nordentoft M, O'Brien NL, Olivares AM, Ongur D, Ouwehand WH, Palmer DS, Paunio T, Quested D, Rapaport MH, Rees E, Rollins B, Satterstrom FK, Schatzberg A, Scolnick E, Scott LJ, Sharp SI, Sklar P, Smoller JW, Sobell JL, Solomonson M, Stahl EA, Stevens CR, Suvisaari J, Tiao G, Watson SJ, Watts NA, Blackwood DH, Børglum AD, Cohen BM, Corvin AP, Esko T, Freimer NB, Glatt SJ, Hultman CM, McQuillin A, Palotie A, Pato CN, Pato MT, Pulver AE, St Clair D, Tsuang MT, Vawter MP, Walters JT, Werge TM, Ophoff RA, Sullivan PF, Owen MJ, Boehnke M, O'Donovan MC, Neale BM, Daly MJ. Rare coding variants in ten genes confer substantial risk for schizophrenia. Nature. 2022 04; 604(7906):509-516.
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Patel RS, Denaxas S, Howe LJ, Eggo RM, Shah AD, Allen NE, Danesh J, Hingorani A, Sudlow C, Hemingway H. Reproducible disease phenotyping at scale: Example of coronary artery disease in UK Biobank. PLoS One. 2022; 17(4):e0264828.
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Aoyagi Y, Kano Y, Tohyama K, Matsudera S, Kumaki Y, Takahashi K, Mitsumura T, Harada Y, Sato A, Nakamura H, Sueoka E, Aragane N, Kimura K, Onishi I, Takemoto A, Akahoshi K, Ono H, Ishikawa T, Tokunaga M, Nakagawa T, Oshima N, Nakamura R, Takagi M, Asakage T, Uetake H, Tanabe M, Miyake S, Kinugasa Y, Ikeda S. Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study. PLoS One. 2022; 17(3):e0266112.
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Dareng EO, Tyrer JP, Barnes DR, Jones MR, Yang X, Aben KKH, Adank MA, Agata S, Andrulis IL, Anton-Culver H, Antonenkova NN, Aravantinos G, Arun BK, Augustinsson A, Balmaña J, Bandera EV, Barkardottir RB, Barrowdale D, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Bjorge L, Black A, Bogdanova NV, Bonanni B, Borg A, Brenton JD, Budzilowska A, Butzow R, Buys SS, Cai H, Caligo MA, Campbell I, Cannioto R, Cassingham H, Chang-Claude J, Chanock SJ, Chen K, Chiew YE, Chung WK, Claes KBM, Colonna S, Cook LS, Couch FJ, Daly MB, Dao F, Davies E, de la Hoya M, de Putter R, Dennis J, DePersia A, Devilee P, Diez O, Ding YC, Doherty JA, Domchek SM, Dörk T, du Bois A, Dürst M, Eccles DM, Eliassen HA, Engel C, Evans GD, Fasching PA, Flanagan JM, Fortner RT, Machackova E, Friedman E, Ganz PA, Garber J, Gensini F, Giles GG, Glendon G, Godwin AK, Goodman MT, Greene MH, Gronwald J, Hahnen E, Haiman CA, Håkansson N, Hamann U, Hansen TVO, Harris HR, Hartman M, Heitz F, Hildebrandt MAT, Høgdall E, Høgdall CK, Hopper JL, Huang RY, Huff C, Hulick PJ, Huntsman DG, Imyanitov EN, Isaacs C, Jakubowska A, James PA, Janavicius R, Jensen A, Johannsson OT, John EM, Jones ME, Kang D, Karlan BY, Karnezis A, Kelemen LE, Khusnutdinova E, Kiemeney LA, Kim BG, Kjaer SK, Komenaka I, Kupryjanczyk J, Kurian AW, Kwong A, Lambrechts D, Larson MC, Lazaro C, Le ND, Leslie G, Lester J, Lesueur F, Levine DA, Li L, Li J, Loud JT, Lu KH, Lubinski J, Mai PL, Manoukian S, Marks JR, Matsuno RK, Matsuo K, May T, McGuffog L, McLaughlin JR, McNeish IA, Mebirouk N, Menon U, Miller A, Milne RL, Minlikeeva A, Modugno F, Montagna M, Moysich KB, Munro E, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Nielsen HR, Nielsen FC, Nikitina-Zake L, Odunsi K, Offit K, Olah E, Olbrecht S, Olopade OI, Olson SH, Olsson H, Osorio A, Papi L, Park SK, Parsons MT, Pathak H, Pedersen IS, Peixoto A, Pejovic T, Perez-Segura P, Permuth JB, Peshkin B, Peterlongo P, Piskorz A, Prokofyeva D, Radice P, Rantala J, Riggan MJ, Risch HA, Rodriguez-Antona C, Ross E, Rossing MA, Runnebaum I, Sandler DP, Santamariña M, Soucy P, Schmutzler RK, Setiawan VW, Shan K, Sieh W, Simard J, Singer CF, Sokolenko AP, Song H, Southey MC, Steed H, Stoppa-Lyonnet D, Sutphen R, Swerdlow AJ, Tan YY, Teixeira MR, Teo SH, Terry KL, Terry MB, Thomassen M, Thompson PJ, Thomsen LCV, Thull DL, Tischkowitz M, Titus L, Toland AE, Torres D, Trabert B, Travis R, Tung N, Tworoger SS, Valen E, van Altena AM, van der Hout AH, Van Nieuwenhuysen E, van Rensburg EJ, Vega A, Edwards DV, Vierkant RA, Wang F, Wappenschmidt B, Webb PM, Weinberg CR, Weitzel JN, Wentzensen N, White E, Whittemore AS, Winham SJ, Wolk A, Woo YL, Wu AH, Yan L, Yannoukakos D, Zavaglia KM, Zheng W, Ziogas A, Zorn KK, Kleibl Z, Easton D, Lawrenson K, DeFazio A, Sellers TA, Ramus SJ, Pearce CL, Monteiro AN, Cunningham J, Goode EL, Schildkraut JM, Berchuck A, Chenevix-Trench G, Gayther SA, Antoniou AC, Pharoah PDP. Polygenic risk modeling for prediction of epithelial ovarian cancer risk. Eur J Hum Genet. 2022 03; 30(3):349-362.
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Oud MS, Smits RM, Smith HE, Mastrorosa FK, Holt GS, Houston BJ, de Vries PF, Alobaidi BKS, Batty LE, Ismail H, Greenwood J, Sheth H, Mikulasova A, Astuti GDN, Gilissen C, McEleny K, Turner H, Coxhead J, Cockell S, Braat DDM, Fleischer K, D'Hauwers KWM, Schaafsma E, Nagirnaja L, Conrad DF, Friedrich C, Kliesch S, Aston KI, Riera-Escamilla A, Krausz C, Gonzaga-Jauregui C, Santibanez-Koref M, Elliott DJ, Vissers LELM, Tüttelmann F, O'Bryan MK, Ramos L, Xavier MJ, van der Heijden GW, Veltman JA. A de novo paradigm for male infertility. Nat Commun. 2022 01 10; 13(1):154.
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Ajore R, Niroula A, Pertesi M, Cafaro C, Thodberg M, Went M, Bao EL, Duran-Lozano L, Lopez de Lapuente Portilla A, Olafsdottir T, Ugidos-Damboriena N, Magnusson O, Samur M, Lareau CA, Halldorsson GH, Thorleifsson G, Norddahl GL, Gunnarsdottir K, Försti A, Goldschmidt H, Hemminki K, van Rhee F, Kimber S, Sperling AS, Kaiser M, Anderson K, Jonsdottir I, Munshi N, Rafnar T, Waage A, Weinhold N, Thorsteinsdottir U, Sankaran VG, Stefansson K, Houlston R, Nilsson B. Functional dissection of inherited non-coding variation influencing multiple myeloma risk. Nat Commun. 2022 01 10; 13(1):151.
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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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Muthusamy K, Ferrer A, Klee EW, Wierenga KJ, Gavrilova RH. Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants. Mol Genet Genomic Med. 2021 10; 9(10):e1799.
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Cohen CC, Perng W, Sauder KA, Ringham BM, Bellatorre A, Scherzinger A, Stanislawski MA, Lange LA, Shankar K, Dabelea D. Associations of Nutrient Intake Changes During Childhood with Adolescent Hepatic Fat: The Exploring Perinatal Outcomes Among CHildren Study. J Pediatr. 2021 Oct; 237:50-58.e3.
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Katabathina VS, Buddha S, Rajebi H, Shah JN, Morani AC, Lubner MG, Dasyam A, Nazarullah A, Menias CO, Prasad SR. Pancreas in Hereditary Syndromes: Cross-sectional Imaging Spectrum. Radiographics. 2021 Jul-Aug; 41(4):1082-1102.
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Zarate YA, Bosanko KA, Caffrey AR. SATB2-associated syndrome in adolescents and adults. Am J Med Genet A. 2021 08; 185(8):2391-2398.
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Rizzardi LF, Hickey PF, Idrizi A, Tryggvadóttir R, Callahan CM, Stephens KE, Taverna SD, Zhang H, Ramazanoglu S, Hansen KD, Feinberg AP. Human brain region-specific variably methylated regions are enriched for heritability of distinct neuropsychiatric traits. Genome Biol. 2021 04 22; 22(1):116.
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Oltvai ZN, Harley SE, Koes D, Michel S, Warlick ED, Nelson AC, Yohe S, Mroz P. Assessing acquired resistance to IDH1 inhibitor therapy by full-exon IDH1 sequencing and structural modeling. Cold Spring Harb Mol Case Stud. 2021 04; 7(2).
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Patel J, Bircan E, Tang X, Orloff M, Hobbs CA, Browne ML, Botto LD, Finnell RH, Jenkins MM, Olshan A, Romitti PA, Shaw GM, Werler MM, Li J, Nembhard WN. Paternal genetic variants and risk of obstructive heart defects: A parent-of-origin approach. PLoS Genet. 2021 03; 17(3):e1009413.
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Hartiala JA, Han Y, Jia Q, Hilser JR, Huang P, Gukasyan J, Schwartzman WS, Cai Z, Biswas S, Trégouët DA, Smith NL, Seldin M, Pan C, Mehrabian M, Lusis AJ, Bazeley P, Sun YV, Liu C, Quyyumi AA, Scholz M, Thiery J, Delgado GE, Kleber ME, März W, Howe LJ, Asselbergs FW, van Vugt M, Vlachojannis GJ, Patel RS, Lyytikäinen LP, Kähönen M, Lehtimäki T, Nieminen TVM, Kuukasjärvi P, Laurikka JO, Chang X, Heng CK, Jiang R, Kraus WE, Hauser ER, Ferguson JF, Reilly MP, Ito K, Koyama S, Kamatani Y, Komuro I, Stolze LK, Romanoski CE, Khan MD, Turner AW, Miller CL, Aherrahrou R, Civelek M, Ma L, Björkegren JLM, Kumar SR, Tang WHW, Hazen SL, Allayee H. Genome-wide analysis identifies novel susceptibility loci for myocardial infarction. Eur Heart J. 2021 03 01; 42(9):919-933.
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Coignard J, Lush M, Beesley J, O'Mara TA, Dennis J, Tyrer JP, Barnes DR, McGuffog L, Leslie G, Bolla MK, Adank MA, Agata S, Ahearn T, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arnold N, Aronson KJ, Arun BK, Augustinsson A, Azzollini J, Barrowdale D, Baynes C, Becher H, Bermisheva M, Bernstein L, Bialkowska K, Blomqvist C, Bojesen SE, Bonanni B, Borg A, Brauch H, Brenner H, Burwinkel B, Buys SS, Caldés T, Caligo MA, Campa D, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Chung WK, Claes KBM, Clarke CL, Collée JM, Conroy DM, Czene K, Daly MB, Devilee P, Diez O, Ding YC, Domchek SM, Dörk T, Dos-Santos-Silva I, Dunning AM, Dwek M, Eccles DM, Eliassen AH, Engel C, Eriksson M, Evans DG, Fasching PA, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, Garcia-Barberan V, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA, Gehrig A, Georgoulias V, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Guénel P, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hart SN, He W, Hogervorst FBL, Hollestelle A, Hopper JL, Horcasitas DJ, Hulick PJ, Hunter DJ, Imyanitov EN, Jager A, Jakubowska A, James PA, Jensen UB, John EM, Jones ME, Kaaks R, Kapoor PM, Karlan BY, Keeman R, Khusnutdinova E, Kiiski JI, Ko YD, Kosma VM, Kraft P, Kurian AW, Laitman Y, Lambrechts D, Le Marchand L, Lester J, Lesueur F, Lindstrom T, Lopez-Fernández A, Loud JT, Luccarini C, Mannermaa A, Manoukian S, Margolin S, Martens JWM, Mebirouk N, Meindl A, Miller A, Milne RL, Montagna M, Nathanson KL, Neuhausen SL, Nevanlinna H, Nielsen FC, O'Brien KM, Olopade OI, Olson JE, Olsson H, Osorio A, Ottini L, Park-Simon TW, Parsons MT, Pedersen IS, Peshkin B, Peterlongo P, Peto J, Pharoah PDP, Phillips KA, Polley EC, Poppe B, Presneau N, Pujana MA, Punie K, Radice P, Rantala J, Rashid MU, Rennert G, Rennert HS, Robson M, Romero A, Rossing M, Saloustros E, Sandler DP, Santella R, Scheuner MT, Schmidt MK, Schmidt G, Scott C, Sharma P, Soucy P, Southey MC, Spinelli JJ, Steinsnyder Z, Stone J, Stoppa-Lyonnet D, Swerdlow A, Tamimi RM, Tapper WJ, Taylor JA, Terry MB, Teulé A, Thull DL, Tischkowitz M, Toland AE, Torres D, Trainer AH, Truong T, Tung N, Vachon CM, Vega A, Vijai J, Wang Q, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Wolk A, Yadav S, Yang XR, Yannoukakos D, Zheng W, Ziogas A, Zorn KK, Park SK, Thomassen M, Offit K, Schmutzler RK, Couch FJ, Simard J, Chenevix-Trench G, Easton DF, Andrieu N, Antoniou AC. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. Nat Commun. 2021 02 17; 12(1):1078.
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Crawford AA, Bankier S, Altmaier E, Barnes CLK, Clark DW, Ermel R, Friedrich N, van der Harst P, Joshi PK, Karhunen V, Lahti J, Mahajan A, Mangino M, Nethander M, Neumann A, Pietzner M, Sukhavasi K, Wang CA, Bakker SJL, Bjorkegren JLM, Campbell H, Eriksson J, Gieger C, Hayward C, Jarvelin MR, McLachlan S, Morris AP, Ohlsson C, Pennell CE, Price J, Rudan I, Ruusalepp A, Spector T, Tiemeier H, Völzke H, Wilson JF, Michoel T, Timpson NJ, Smith GD, Walker BR. Variation in the SERPINA6/SERPINA1 locus alters morning plasma cortisol, hepatic corticosteroid binding globulin expression, gene expression in peripheral tissues, and risk of cardiovascular disease. J Hum Genet. 2021 Jun; 66(6):625-636.
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Wegermann K, Garrett ME, Zheng J, Coviello A, Moylan CA, Abdelmalek MF, Chow SC, Guy CD, Diehl AM, Ashley-Koch A, Suzuki A. Sex and Menopause Modify the Effect of Single Nucleotide Polymorphism Genotypes on Fibrosis in NAFLD. Hepatol Commun. 2021 04; 5(4):598-607.
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Kunkle BW, Schmidt M, Klein HU, Naj AC, Hamilton-Nelson KL, Larson EB, Evans DA, De Jager PL, Crane PK, Buxbaum JD, Ertekin-Taner N, Barnes LL, Fallin MD, Manly JJ, Go RCP, Obisesan TO, Kamboh MI, Bennett DA, Hall KS, Goate AM, Foroud TM, Martin ER, Wang LS, Byrd GS, Farrer LA, Haines JL, Schellenberg GD, Mayeux R, Pericak-Vance MA, Reitz C, Graff-Radford NR, Martinez I, Ayodele T, Logue MW, Cantwell LB, Jean-Francois M, Kuzma AB, Adams LD, Vance JM, Cuccaro ML, Chung J, Mez J, Lunetta KL, Jun GR, Lopez OL, Hendrie HC, Reiman EM, Kowall NW, Leverenz JB, Small SA, Levey AI, Golde TE, Saykin AJ, Starks TD, Albert MS, Hyman BT, Petersen RC, Sano M, Wisniewski T, Vassar R, Kaye JA, Henderson VW, DeCarli C, LaFerla FM, Brewer JB, Miller BL, Swerdlow RH, Van Eldik LJ, Paulson HL, Trojanowski JQ, Chui HC, Rosenberg RN, Craft S, Grabowski TJ, Asthana S, Morris JC, Strittmatter SM, Kukull WA. Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel: A Meta-analysis. JAMA Neurol. 2021 01 01; 78(1):102-113.
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Brandkvist M, Bjørngaard JH, Ødegård RA, Brumpton B, Smith GD, Åsvold BO, Sund ER, Kvaløy K, Willer CJ, Vie GÅ. Genetic associations with temporal shifts in obesity and severe obesity during the obesity epidemic in Norway: A longitudinal population-based cohort (the HUNT Study). PLoS Med. 2020 12; 17(12):e1003452.
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Jin J, Robeson H, Fagan P, Orloff MS. Association of PARP1-specific polymorphisms and haplotypes with non-small cell lung cancer subtypes. PLoS One. 2020; 15(12):e0243509.
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Chen J, Gao XM, Zhao H, Cai H, Zhang L, Cao XX, Zhou DB, Li J. A highly heterogeneous mutational pattern in POEMS syndrome. Leukemia. 2021 04; 35(4):1100-1107.
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Aydin AM, Chahoud J, Adashek JJ, Azizi M, Magliocco A, Ross JS, Necchi A, Spiess PE. Understanding genomics and the immune environment of penile cancer to improve therapy. Nat Rev Urol. 2020 10; 17(10):555-570.
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Dardani C, Howe LJ, Mukhopadhyay N, Stergiakouli E, Wren Y, Humphries K, Davies A, Ho K, Weinberg SM, Marazita ML, Mangold E, Ludwig KU, Relton CL, Davey Smith G, Lewis SJ, Sandy J, Davies NM, Sharp GC. Cleft lip/palate and educational attainment: cause, consequence or correlation? A Mendelian randomization study. Int J Epidemiol. 2020 08 01; 49(4):1282-1293.
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Howe LJ, Hemani G, Lesseur C, Gaborieau V, Ludwig KU, Mangold E, Brennan P, Ness AR, St Pourcain B, Davey Smith G, Lewis SJ. Evaluating shared genetic influences on nonsyndromic cleft lip/palate and oropharyngeal neoplasms. Genet Epidemiol. 2020 11; 44(8):924-933.
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Mahmoodi BK, Tragante V, Kleber ME, Holmes MV, Schmidt AF, McCubrey RO, Howe LJ, Direk K, Allayee H, Baranova EV, Braund PS, Delgado GE, Eriksson N, Gijsberts CM, Gong Y, Hartiala J, Heydarpour M, Pasterkamp G, Kotti S, Kuukasjärvi P, Lenzini PA, Levin D, Lyytikäinen LP, Muehlschlegel JD, Nelson CP, Nikus K, Pilbrow AP, Wilson Tang WH, van der Laan SW, van Setten J, Vilmundarson RO, Deanfield J, Deloukas P, Dudbridge F, James S, Mordi IR, Teren A, Bergmeijer TO, Body SC, Bots M, Burkhardt R, Cooper-DeHoff RM, Cresci S, Danchin N, Doughty RN, Grobbee DE, Hagström E, Hazen SL, Held C, Hoefer IE, Hovingh GK, Johnson JA, Kaczor MP, Kähönen M, Klungel OH, Laurikka JO, Lehtimäki T, Maitland-van der Zee AH, McPherson R, Palmer CN, Kraaijeveld AO, Pepine CJ, Sanak M, Sattar N, Scholz M, Simon T, Spertus JA, Stewart AFR, Szczeklik W, Thiery J, Visseren FLJ, Waltenberger J, Richards AM, Lang CC, Cameron VA, Åkerblom A, Pare G, März W, Samani NJ, Hingorani AD, Ten Berg JM, Wallentin L, Asselbergs FW, Patel RS. Association of Factor V Leiden With Subsequent Atherothrombotic Events: A GENIUS-CHD Study of Individual Participant Data. Circulation. 2020 08 11; 142(6):546-555.
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Gonzalez Garcia A, Malone J, Li H. A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation. Cold Spring Harb Mol Case Stud. 2020 06; 6(3).
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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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You D, Lyn-Cook LE, Gatti DM, Bell N, Mayeux PR, James LP, Mattes WB, Larson GJ, Harrill AH. Nitrosative Stress and Lipid Homeostasis as a Mechanism for Zileuton Hepatotoxicity and Resistance in Genetically Sensitive Mice. Toxicol Sci. 2020 06 01; 175(2):220-235.
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Howe LJ, Dudbridge F, Schmidt AF, Finan C, Denaxas S, Asselbergs FW, Hingorani AD, Patel RS. Polygenic risk scores for coronary artery disease and subsequent event risk amongst established cases. Hum Mol Genet. 2020 05 28; 29(8):1388-1395.
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