Genetic Association Studies
"Genetic Association Studies" 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.
The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.
Descriptor ID |
D056726
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MeSH Number(s) |
E05.393.385
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Concept/Terms |
Genetic Association Studies- Genetic Association Studies
- Association Studies, Genetic
- Association Study, Genetic
- Genetic Association Study
- Studies, Genetic Association
- Study, Genetic Association
Genotype-Phenotype Associations- Genotype-Phenotype Associations
- Association, Genotype-Phenotype
- Associations, Genotype-Phenotype
- Genotype Phenotype Associations
- Genotype-Phenotype Correlation
- Genotype Phenotype Correlation
- Genotype-Phenotype Correlations
- Correlation, Genotype-Phenotype
- Correlations, Genotype-Phenotype
- Genotype Phenotype Correlations
- Genotype-Phenotype Association
- Genotype Phenotype Association
Candidate Gene Analysis- Candidate Gene Analysis
- Analyses, Candidate Gene
- Analysis, Candidate Gene
- Candidate Gene Analyses
- Gene Analyses, Candidate
- Gene Analysis, Candidate
Candidate Gene Identification- Candidate Gene Identification
- Gene Identification, Candidate
- Identification, Candidate Gene
- Candidate Gene Association Study
- Gene Discovery
- Discovery, Gene
- Candidate Gene Association Studies
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Below are MeSH descriptors whose meaning is more general than "Genetic Association Studies".
Below are MeSH descriptors whose meaning is more specific than "Genetic Association Studies".
This graph shows the total number of publications written about "Genetic Association Studies" by people in UAMS Profiles by year, and whether "Genetic Association Studies" 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 | 1 | 1 | 2 | 2021 | 0 | 4 | 4 | 2020 | 0 | 4 | 4 | 2019 | 3 | 8 | 11 | 2018 | 3 | 1 | 4 | 2017 | 3 | 2 | 5 | 2016 | 2 | 2 | 4 | 2015 | 0 | 1 | 1 | 2014 | 0 | 9 | 9 | 2013 | 0 | 1 | 1 | 2012 | 0 | 4 | 4 | 2011 | 1 | 2 | 3 | 2010 | 0 | 3 | 3 |
To return to the timeline, click here.
Below are the most recent publications written about "Genetic Association Studies" by people in Profiles over the past ten years.
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Mak CCY, Klinkhammer H, Choufani S, Reko N, Christman AK, Pisan E, Chui MMC, Lee M, Leduc F, Dempsey JC, Sanchez-Lara PA, Bombei HM, Bernat JA, Faivre L, Mau-Them FT, Palafoll IV, Canham N, Sarkar A, Zarate YA, Callewaert B, Bukowska-Olech E, Jamsheer A, Zankl A, Willems M, Duncan L, Isidor B, Cogne B, Boute O, Vanlerberghe C, Goldenberg A, Stolerman E, Low KJ, Gilard V, Amiel J, Lin AE, Gordon CT, Doherty D, Krawitz PM, Weksberg R, Hsieh TC, Chung BHY. Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics. EBioMedicine. 2025 May; 115:105677.
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Elkhateeb N, Crookes R, Spiller M, Pavinato L, Palermo F, Brusco A, Parker M, Park SM, Mendes AC, Saraiva JM, Hammer TB, Nazaryan-Petersen L, Barakat TS, Wilke M, Bhoj E, Ahrens-Nicklas RC, Li D, Nomakuchi T, Brilstra EH, Hunt D, Johnson D, Mansour S, Oprych K, Mehta SG, Platzer K, Schnabel F, Kiep H, Faust H, Prinzing G, Wiltrout K, Radley JA, Serrano Russi AH, Atallah I, Campos-Xavier B, Amor DJ, Morgan AT, Fagerberg C, Andersen UA, Andersen CB, Bijlsma EK, Bird LM, Mullegama SV, Green A, Isidor B, Cogn? B, Kenny J, Lynch SA, Quin S, Low K, Herget T, Kort?m F, Levy RJ, Morrison JL, Wheeler PG, Narumanch T, Peron K, Matthews N, Uhlman J, Bell L, Pang L, Scurr I, Belles RS, Salbert BA, Schaefer GB, Green S, Ros A, Rodr?guez-Palmero A, Vi?njar T, Writzl K, Vasudevan PC, Balasubramanian M. Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder. Genet Med. 2025 Mar; 27(3):101348.
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den Hoed J, Hashimoto H, Khan M, Semmekrot F, Bosanko KA, Abe-Hatano C, Nakagawa E, Venselaar H, Quercia N, Chad L, Kurosaka H, Rondeau S, Fisher SE, Yamamoto S, Zarate YA. Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes. J Med Genet. 2024 Oct 23; 61(11):1062-1067.
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Steele JL, Morrow MM, Sarnat HB, Alkhunaizi E, Brandt T, Chitayat DA, DeFilippo CP, Douglas GV, Dubbs HA, Elloumi HZ, Glassford MR, Hannibal MC, H?ron B, Kim LE, Marco EJ, Mignot C, Monaghan KG, Myers KA, Parikh S, Quinonez SC, Rajabi F, Shankar SP, Shinawi MS, van de Kamp JJP, Veerapandiyan A, Waldman AT, Graf WD. Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome. Pediatr Neurol. 2022 01; 126:65-73.
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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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Gianferante MD, Wlodarski MW, Atsidaftos E, Da Costa L, Delaporta P, Farrar JE, Goldman FD, Hussain M, Kattamis A, Leblanc T, Lipton JM, Niemeyer CM, Pospisilova D, Quarello P, Ramenghi U, Sankaran VG, Vlachos A, Volejnikova J, Alter BP, Savage SA, Giri N. Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A. Haematologica. 2021 05 01; 106(5):1303-1310.
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Rizzardi LF, Hickey PF, Idrizi A, Tryggvad?ttir 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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Iorizzo M, Curaba J, Pottorff M, Ferruzzi MG, Simon P, Cavagnaro PF. Carrot Anthocyanins Genetics and Genomics: Status and Perspectives to Improve Its Application for the Food Colorant Industry. Genes (Basel). 2020 08 07; 11(8).
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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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Wenger TL, Bly RA, Wu N, Albert CM, Park J, Shieh J, Chenbhanich J, Heike CL, Adam MP, Chang I, Sun A, Miller DE, Beck AE, Gupta D, Boos MD, Zackai EH, Everman D, Ganapathi S, Wilson M, Christodoulou J, Zarate YA, Curry C, Li D, Guimier A, Amiel J, Hakonarson H, Webster R, Bhoj EJ, Perkins JA, Dahl JP, Dobyns WB. Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy. Am J Med Genet A. 2020 07; 182(7):1576-1591.
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Borlot F, Abushama A, Morrison-Levy N, Jain P, Puthenveettil Vinayan K, Abukhalid M, Aldhalaan HM, Almuzaini HS, Gulati S, Hershkovitz T, Konanki R, Lingappa L, Luat AF, Shafi S, Tabarki B, Thomas M, Yoganathan S, Alfadhel M, Arya R, Donner EJ, Ehaideb SN, Gowda VK, Jain V, Madaan P, Myers KA, Otsubo H, Panda P, Sahu JK, Sampaio LPB, Sharma S, Simard-Tremblay E, Zak M, Whitney R. KCNT1-related epilepsy: An international multicenter cohort of 27 pediatric cases. Epilepsia. 2020 04; 61(4):679-692.
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Blackburn PR, Sullivan AE, Gerassimou AG, Kleinendorst L, Bersten DC, Cooiman M, Harris KG, Wierenga KJ, Klee EW, van Gerpen JA, Ross OA, van Haelst MM, Whitelaw ML, Caulfield TR, Atwal PS. Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity. J Clin Endocrinol Metab. 2020 01 01; 105(1).
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Mester JL, Jackson SA, Postula K, Stettner A, Solomon S, Bissonnette J, Murphy PD, Klein RT, Hruska KS. Apparently Heterozygous TP53 Pathogenic Variants May Be Blood Limited in Patients Undergoing Hereditary Cancer Panel Testing. J Mol Diagn. 2020 03; 22(3):396-404.
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Assia Batzir N, Kishor Bhagwat P, Larson A, Coban Akdemir Z, Baglaj M, Bofferding L, Bosanko KB, Bouassida S, Callewaert B, Cannon A, Enchautegui Colon Y, Garnica AD, Harr MH, Heck S, Hurst ACE, Jhangiani SN, Isidor B, Littlejohn RO, Liu P, Magoulas P, Mar Fan H, Marom R, McLean S, Nezarati MM, Nugent KM, Petersen MB, Rocha ML, Roeder E, Smigiel R, Tully I, Weisfeld-Adams J, Wells KO, Posey JE, Lupski JR, Beaudet AL, Wangler MF. Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 2020 03; 41(3):641-654.
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Qiao C, Richter GT, Pan W, Jin Y, Lin X. Extracranial arteriovenous malformations: from bedside to bench. Mutagenesis. 2019 12 19; 34(4):299-306.
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Davies NM, Howe LJ, Brumpton B, Havdahl A, Evans DM, Davey Smith G. Within family Mendelian randomization studies. Hum Mol Genet. 2019 11 21; 28(R2):R170-R179.
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Hijazi H, Coelho FS, Gonzaga-Jauregui C, Bernardini L, Mar SS, Manning MA, Hanson-Kahn A, Naidu S, Srivastava S, Lee JA, Jones JR, Friez MJ, Alberico T, Torres B, Fang P, Cheung SW, Song X, Davis-Williams A, Jornlin C, Wight PA, Patyal P, Taube J, Poretti A, Inoue K, Zhang F, Pehlivan D, Carvalho CMB, Hobson GM, Lupski JR. Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Hum Mutat. 2020 01; 41(1):150-168.
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Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cort?s FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hern?ndez-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KBM, Eoli M, Martin Y, Wimmer K, De Luca A, Legius E, Messiaen LM. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. Hum Mutat. 2020 01; 41(1):299-315.
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Thomason A, Pankey E, Nutt B, Caffrey AR, Zarate YA. Speech, language, and feeding phenotypes of SATB2-associated syndrome. Clin Genet. 2019 12; 96(6):485-492.
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Srinivasan G, Williamson EA, Kong K, Jaiswal AS, Huang G, Kim HS, Sch?rer O, Zhao W, Burma S, Sung P, Hromas R. MiR223-3p promotes synthetic lethality in BRCA1-deficient cancers. Proc Natl Acad Sci U S A. 2019 08 27; 116(35):17438-17443.
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Soldovieri MV, Ambrosino P, Mosca I, Miceli F, Franco C, Canzoniero LMT, Kline-Fath B, Cooper EC, Venkatesan C, Taglialatela M. Epileptic Encephalopathy In A Patient With A Novel Variant In The Kv7.2 S2 Transmembrane Segment: Clinical, Genetic, and Functional Features. Int J Mol Sci. 2019 Jul 10; 20(14).
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Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Kovitch E, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Mi?a?r S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL. Mutation update for the SATB2 gene. Hum Mutat. 2019 08; 40(8):1013-1029.
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Ismail HM, Evans-Molina C, DiMeglio LA, Becker DJ, Libman I, Sims EK, Boulware D, Herold KC, Rafkin L, Skyler J, Cleves MA, Palmer J, Sosenko JM. Associations of HbA1c with the timing of C-peptide responses during the oral glucose tolerance test at the diagnosis of type 1 diabetes. Pediatr Diabetes. 2019 06; 20(4):408-413.
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Zarate YA, Boccuto L, Srikanth S, Pauly R, Ocal E, Balmakund T, Hinkle K, Stefans V, Schaefer GB, Collins RT. Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome. Am J Med Genet A. 2019 06; 179(6):1047-1052.
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Cogn? B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskj?ld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ?L, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ?L, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denomm?-Pichon AS, F?rec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, B?zieau S, K?ry S, Campeau PM. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet. 2019 03 07; 104(3):530-541.
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Went M, Sud A, Speedy H, Sunter NJ, F?rsti A, Law PJ, Johnson DC, Mirabella F, Holroyd A, Li N, Orlando G, Weinhold N, van Duin M, Chen B, Mitchell JS, Mansouri L, Juliusson G, Smedby KE, Jayne S, Majid A, Dearden C, Allsup DJ, Bailey JR, Pratt G, Pepper C, Fegan C, Rosenquist R, Kuiper R, Stephens OW, Bertsch U, Broderick P, Einsele H, Gregory WM, Hillengass J, Hoffmann P, Jackson GH, J?ckel KH, Nickel J, N?then MM, da Silva Filho MI, Thomsen H, Walker BA, Broyl A, Davies FE, Hansson M, Goldschmidt H, Dyer MJS, Kaiser M, Sonneveld P, Morgan GJ, Hemminki K, Nilsson B, Catovsky D, Allan JM, Houlston RS. Genetic correlation between multiple myeloma and chronic lymphocytic leukaemia provides evidence for shared aetiology. Blood Cancer J. 2018 12 21; 9(1):1.
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Seifert BA, McGlaughon JL, Jackson SA, Ritter DI, Roberts ME, Schmidt RJ, Thompson BA, Jimenez S, Trapp M, Lee K, Plon SE, Offit K, Stadler ZK, Zhang L, Greenblatt MS, Ferber MJ. Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework. Genet Med. 2019 07; 21(7):1507-1516.
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Howe LJ, Lee MK, Sharp GC, Davey Smith G, St Pourcain B, Shaffer JR, Ludwig KU, Mangold E, Marazita ML, Feingold E, Zhurov A, Stergiakouli E, Sandy J, Richmond S, Weinberg SM, Hemani G, Lewis SJ. Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology. PLoS Genet. 2018 08; 14(8):e1007501.
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Mauro KL, Helton SG, Rosoff DB, Luo A, Schwandt M, Jung J, Lee J, Muench C, Lohoff FW. Association Analysis Between Genetic Variation in GATA Binding Protein 4 (GATA4) and Alcohol Use Disorder. Alcohol Alcohol. 2018 Jul 01; 53(4):361-367.
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Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK. Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. Am J Med Genet A. 2018 04; 176(4):925-935.
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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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McKelvey KD, Trana CJ, Kelsay J, Sawyer J, Clothier J. Phelan-McDermid syndrome and cancer predisposition: The value of a karyotype. Am J Med Genet A. 2018 01; 176(1):144-145.
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Howe LJ, Erzurumluoglu AM, Davey Smith G, Rodriguez S, Stergiakouli E. Y Chromosome, Mitochondrial DNA and Childhood Behavioural Traits. Sci Rep. 2017 09 14; 7(1):11655.
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Mitter D, Pringsheim M, Kaulisch M, Pl?macher KS, Schr?der S, Warthemann R, Abou Jamra R, Baethmann M, Bast T, B?ttel HM, Cohen JS, Conover E, Courage C, Eger A, Fatemi A, Grebe TA, Hauser NS, Heinritz W, Helbig KL, Heruth M, Huhle D, H?ft K, Karch S, Kluger G, Korenke GC, Lemke JR, Lutz RE, Patzer S, Prehl I, Hoertnagel K, Ramsey K, Rating T, Rie? A, Rohena L, Schimmel M, Westman R, Zech FM, Zoll B, Malzahn D, Zirn B, Brockmann K. FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants. Genet Med. 2018 01; 20(1):98-108.
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Scales M, Chubb D, Dobbins SE, Johnson DC, Li N, Sternberg MJ, Weinhold N, Stein C, Jackson G, Davies FE, Walker BA, Wardell CP, Houlston RS, Morgan GJ. Search for rare protein altering variants influencing susceptibility to multiple myeloma. Oncotarget. 2017 May 30; 8(22):36203-36210.
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Hardin JS, Schaefer GB, Sallam AB, Williams MK, Uwaydat S. A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance. Ophthalmic Genet. 2017 12; 38(6):570-574.
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Chen L, Jenjaroenpun P, Pillai AM, Ivshina AV, Ow GS, Efthimios M, Zhiqun T, Tan TZ, Lee SC, Rogers K, Ward JM, Mori S, Adams DJ, Jenkins NA, Copeland NG, Ban KH, Kuznetsov VA, Thiery JP. Transposon insertional mutagenesis in mice identifies human breast cancer susceptibility genes and signatures for stratification. Proc Natl Acad Sci U S A. 2017 03 14; 114(11):E2215-E2224.
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Hassed S, Li S, Mulvihill J, Aston C, Palmer S. Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. Am J Med Genet A. 2017 Mar; 173(3):790-800.
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Srinivasan L, Swarr DT, Sharma M, Cotten CM, Kirpalani H. Systematic Review and Meta-analysis: Gene Association Studies in Neonatal Sepsis. Am J Perinatol. 2017 06; 34(7):684-692.
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Zarate YA, Fish JL. SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations. Am J Med Genet A. 2017 Feb; 173(2):327-337.
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Tas E, Sebastian J, Madan-Khetarpal S, Sweet P, Yatsenko AN, Pollock N, Rajkovic A, Schneck FX, Yatsenko SA, Witchel SF. Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability. Am J Med Genet A. 2017 Jan; 173(1):221-224.
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Zarate YA, Bhoj E, Kaylor J, Li D, Tsurusaki Y, Miyake N, Matsumoto N, Phadke S, Escobar L, Irani A, Hakonarson H, Schrier Vergano SA. SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases. Am J Med Genet A. 2016 08; 170(8):1967-73.
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Wang X, Li N, Xiong N, You Q, Li J, Yu J, Qing H, Wang T, Cordell HJ, Isacson O, Vance JM, Martin ER, Zhao Y, Cohen BM, Buttner EA, Lin Z. Genetic Variants of Microtubule Actin Cross-linking Factor 1 (MACF1) Confer Risk for Parkinson's Disease. Mol Neurobiol. 2017 05; 54(4):2878-2888.
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Giri AK, Midha S, Banerjee P, Agrawal A, Mehdi SJ, Dhingra R, Kaur I, G RK, Lakhotia R, Ghosh S, Das K, Mohindra S, Rana S, Bhasin DK, Garg PK, Bharadwaj D. Common Variants in CLDN2 and MORC4 Genes Confer Disease Susceptibility in Patients with Chronic Pancreatitis. PLoS One. 2016; 11(1):e0147345.
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Yan Q, Weeks DE, Celed?n JC, Tiwari HK, Li B, Wang X, Lin WY, Lou XY, Gao G, Chen W, Liu N. Associating Multivariate Quantitative Phenotypes with Genetic Variants in Family Samples with a Novel Kernel Machine Regression Method. Genetics. 2015 Dec; 201(4):1329-39.
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Stanfill A, Hathaway D, Cashion A, Homayouni R, Cowan P, Thompson C, Madahian B, Conley Y. A Pilot Study of Demographic and Dopaminergic Genetic Contributions to Weight Change in Kidney Transplant Recipients. PLoS One. 2015; 10(9):e0138885.
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Miller MW, Wolf EJ, Sadeh N, Logue M, Spielberg JM, Hayes JP, Sperbeck E, Schichman SA, Stone A, Carter WC, Humphries DE, Milberg W, McGlinchey R. A novel locus in the oxidative stress-related gene ALOX12 moderates the association between PTSD and thickness of the prefrontal cortex. Psychoneuroendocrinology. 2015 Dec; 62:359-65.
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