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Page 1
Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis.
Fadista J, Skotte L, Geller F, Bybjerg-Grauholm J, Gørtz S, Romitti PA, Caggana M, Kay DM, Matsson H, Boyd HA, Hougaard DM, Nordenskjöld A, Mills JL, Melbye M, Feenstra B. Fadista J, et al. Among authors: kay dm. Hum Mol Genet. 2019 Jan 15;28(2):332-340. doi: 10.1093/hmg/ddy347. Hum Mol Genet. 2019. PMID: 30281099 Free PMC article.
Genomic analyses in African populations identify novel risk loci for cleft palate.
Butali A, Mossey PA, Adeyemo WL, Eshete MA, Gowans LJJ, Busch TD, Jain D, Yu W, Huan L, Laurie CA, Laurie CC, Nelson S, Li M, Sanchez-Lara PA, Magee WP, Magee KS, Auslander A, Brindopke F, Kay DM, Caggana M, Romitti PA, Mills JL, Audu R, Onwuamah C, Oseni GO, Owais A, James O, Olaitan PB, Aregbesola BS, Braimah RO, Oginni FO, Oladele AO, Bello SA, Rhodes J, Shiang R, Donkor P, Obiri-Yeboah S, Arthur FKN, Twumasi P, Agbenorku P, Plange-Rhule G, Oti AA, Ogunlewe OM, Oladega AA, Adekunle AA, Erinoso AO, Adamson OO, Elufowoju AA, Ayelomi OI, Hailu T, Hailu A, Demissie Y, Derebew M, Eliason S, Romero-Bustillous M, Lo C, Park J, Desai S, Mohammed M, Abate F, Abdur-Rahman LO, Anand D, Saadi I, Oladugba AV, Lachke SA, Amendt BA, Rotimi CN, Marazita ML, Cornell RA, Murray JC, Adeyemo AA. Butali A, et al. Among authors: kay dm. Hum Mol Genet. 2019 Mar 15;28(6):1038-1051. doi: 10.1093/hmg/ddy402. Hum Mol Genet. 2019. PMID: 30452639 Free PMC article.
Copy number variants in hypoplastic right heart syndrome.
Giannakou A, Sicko RJ, Kay DM, Zhang W, Romitti PA, Caggana M, Shaw GM, Jelliffe-Pawlowski LL, Mills JL. Giannakou A, et al. Among authors: kay dm. Am J Med Genet A. 2018 Dec;176(12):2760-2767. doi: 10.1002/ajmg.a.40527. Epub 2018 Oct 5. Am J Med Genet A. 2018. PMID: 30289599
Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children.
Pitsava G, Feldkamp ML, Pankratz N, Lane J, Kay DM, Conway KM, Shaw GM, Reefhuis J, Jenkins MM, Almli LM, Olshan AF, Pangilinan F, Brody LC, Sicko RJ, Hobbs CA, Bamshad M, McGoldrick D, Nickerson DA, Finnell RH, Mullikin J, Romitti PA, Mills JL; University of Washington Center for Mendelian Genomics, NISC Comparative Sequencing Program and the National Birth Defects Prevention Study. Pitsava G, et al. Among authors: kay dm. Am J Med Genet A. 2021 Oct;185(10):3028-3041. doi: 10.1002/ajmg.a.62439. Epub 2021 Aug 5. Am J Med Genet A. 2021. PMID: 34355505 Free PMC article.
Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.
Pangilinan F, Watkins D, Bernard D, Chen Y, Dong N, Wu Q, Ozel-Abaan H, Kaur M, Caggana M, Morrissey M, Browne ML, Mills JL, Van Ryzin C, Shchelochkov O, Sloan J, Venditti CP, Sarafoglou K, Rosenblatt DS, Kay DM, Brody LC. Pangilinan F, et al. Among authors: kay dm. Am J Med Genet A. 2022 Apr;188(4):1124-1141. doi: 10.1002/ajmg.a.62627. Epub 2022 Feb 2. Am J Med Genet A. 2022. PMID: 35107211 Free PMC article.
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M, Schulte C, Keller MF, Arepalli S, Letson C, Edsall C, Stefansson H, Liu X, Pliner H, Lee JH, Cheng R; International Parkinson's Disease Genomics Consortium (IPDGC); Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI); 23andMe; GenePD; NeuroGenetics Research Consortium (NGRC); Hussman Institute of Human Genomics (HIHG); Ashkenazi Jewish Dataset Investigator; Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE); North American Brain Expression Consortium (NABEC); United Kingdom Brain Expression Consortium (UKBEC); Greek Parkinson's Disease Consortium; Alzheimer Genetic Analysis Group; Ikram MA, Ioannidis JP, Hadjigeorgiou GM, Bis JC, Martinez M, Perlmutter JS, Goate A, Marder K, Fiske B, Sutherland M, Xiromerisiou G, Myers RH, Clark LN, Stefansson K, Hardy JA, Heutink P, Chen H, Wood NW, Houlden H, Payami H, Brice A, Scott WK, Gasser T, Bertram L, Eriksson N, Foroud T, Singleton AB. Nalls MA, et al. Nat Genet. 2014 Sep;46(9):989-93. doi: 10.1038/ng.3043. Epub 2014 Jul 27. Nat Genet. 2014. PMID: 25064009 Free PMC article.
Genetic drivers of Cushing's disease: Frequency and associated phenotypes.
Hernández-Ramírez LC, Pankratz N, Lane J, Faucz FR, Chittiboina P, Kay DM, Beethem Z, Mills JL, Stratakis CA. Hernández-Ramírez LC, et al. Among authors: kay dm. Genet Med. 2022 Dec;24(12):2516-2525. doi: 10.1016/j.gim.2022.08.021. Epub 2022 Sep 23. Genet Med. 2022. PMID: 36149413 Free PMC article.
Exome sequencing identifies variants in infants with sacral agenesis.
Pitsava G, Feldkamp ML, Pankratz N, Lane J, Kay DM, Conway KM, Hobbs C, Shaw GM, Reefhuis J, Jenkins MM, Almli LM, Moore C, Werler M, Browne ML, Cunniff C, Olshan AF, Pangilinan F, Brody LC, Sicko RJ, Finnell RH, Bamshad MJ, McGoldrick D, Nickerson DA, Mullikin JC, Romitti PA, Mills JL; UW Center for Mendelian Genomics, NISC Comparative Sequencing Program and the National Birth Defects Prevention Study. Pitsava G, et al. Among authors: kay dm. Birth Defects Res. 2022 Apr;114(7):215-227. doi: 10.1002/bdr2.1987. Epub 2022 Mar 10. Birth Defects Res. 2022. PMID: 35274497 Free PMC article.
85 results