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A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
Corbett MA, Bahlo M, Jolly L, Afawi Z, Gardner AE, Oliver KL, Tan S, Coffey A, Mulley JC, Dibbens LM, Simri W, Shalata A, Kivity S, Jackson GD, Berkovic SF, Gecz J. Corbett MA, et al. Among authors: coffey a. Am J Hum Genet. 2010 Sep 10;87(3):371-5. doi: 10.1016/j.ajhg.2010.08.001. Am J Hum Genet. 2010. PMID: 20797691 Free PMC article.
The impact of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) on the health-related quality of life (HRQoL) experiences of adults with SJS/TEN: A mixed method systematic review.
O'Reilly P, Savarimalai R, Walsh S, Barry LA, Fortune DG, Bunker CB, Ryan S, Dodiuk-Gad R, Coffey A, Ingen-Housz-Oro S, Griffin L, Dore L, Delaunois I, Meskell P. O'Reilly P, et al. Among authors: coffey a. Br J Dermatol. 2025 Jun 21:ljaf229. doi: 10.1093/bjd/ljaf229. Online ahead of print. Br J Dermatol. 2025. PMID: 40579372
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships.
Broeren EC, Gitau VN, Byrne AB, Ajuyah P, Balzotti MB, Berg JS, Bluske K, Bowen BM, Brown MP, Buchanan A, Burns BT, Burns NJ, Chandrasekhar A, Chawla A, Chong JX, Chopra M, Clause AR, DiStefano MT, DiTroia S, Elnagheeb MA, Girod AN, Goel H, Golden-Grant KL, Ha T, Hamosh A, Huang JM, Hughes MY, Jamuar SS, Kam S, Kesari A, Koh AL, Lassiter RNT, Leigh SE, Lemire G, Lim JY, Malhotra A, McCurry HR, Milewski B, Moosa S, Murray SA, Owens EH, Palmer EE, Palus BC, Patel MJ, Rajkumar R, Ratliff JC, Raymond FL, Della Ripa Rodrigues Assis B, Sajan SA, Schlachetzki Z, Schmidt SA, Stark Z, Strom SP, Taylor JP, Thaxton C, Thrush DL, Toro S, Tshering KC, Vasilevsky NA, Wayburn B, Webb RF, O'Donnell-Luria A, Coffey AJ. Broeren EC, et al. Among authors: coffey aj. Genet Med Open. 2025 Apr 9;3:103429. doi: 10.1016/j.gimo.2025.103429. eCollection 2025. Genet Med Open. 2025. PMID: 40496713 Free PMC article.
Data-driven consideration of genetic disorders for global genomic newborn screening programs.
Minten T, Bick S, Adelson S, Gehlenborg N, Amendola LM, Boemer F, Coffey AJ, Encina N, Ferlini A, Kirschner J, Russell BE, Servais L, Sund KL, Taft RJ, Tsipouras P, Zouk H; ICoNS Gene List Contributors; Bick D; International Consortium on Newborn Sequencing (ICoNS); Green RC, Gold NB. Minten T, et al. Among authors: coffey aj. Genet Med. 2025 May 9;27(7):101443. doi: 10.1016/j.gim.2025.101443. Online ahead of print. Genet Med. 2025. PMID: 40357684
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A, Thorpe E, Coffey AJ, Rajkumar R, Adjeman J, Naa Adjeley Adjetey ND, Aglobitse S, Allotey F, Arsov T, Ashong J, Badoe EV, Basel D, Brew Y, Brown C, Bosfield K, Casas K, Cornejo-Olivas M, Davis-Keppen L, Freed A, Gibson K, Jayakar P, Jones MC, Kawome M, Lumaka A, Maier U, Makay P, Manassero G, Marbell-Wilson M, Marcuccilli C, Masser-Frye D, McCarrier J, Mills HS, Montoya JB, Mubungu G, Ngole M, Perez J, Pivnick E, Duenas-Roque MM, Pena Salguero H, Serize A, Shinawi M, Sirchia F, Soler-Alfonso C, Taylor A, Thompson L, Vance G, Vanderver A, Vaux K, Velasco D, Wiafe S; Illumina Laboratory Services Interpretation and Reporting Team; Taft RJ, Perry DL, Kesari A. Malhotra A, et al. Among authors: coffey aj. HGG Adv. 2025 Apr 7;6(3):100430. doi: 10.1016/j.xhgg.2025.100430. Online ahead of print. HGG Adv. 2025. PMID: 40195116 Free PMC article.
564 results