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Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.
Weerakkody RA, Vandrovcova J, Kanonidou C, Mueller M, Gampawar P, Ibrahim Y, Norsworthy P, Biggs J, Abdullah A, Ross D, Black HA, Ferguson D, Cheshire NJ, Kazkaz H, Grahame R, Ghali N, Vandersteen A, Pope FM, Aitman TJ. Weerakkody RA, et al. Among authors: aitman tj. Genet Med. 2016 Nov;18(11):1119-1127. doi: 10.1038/gim.2016.14. Epub 2016 Mar 24. Genet Med. 2016. PMID: 27011056 Free article.
De novo mutations in autosomal recessive congenital malformations.
Black HA, Parry D, Atanur SS, Ross D, Rose E, Russell H, Stock S, Warner J, Porteous M, Aitman TJ, Evans MJ. Black HA, et al. Among authors: aitman tj. Genet Med. 2016 Dec;18(12):1325-1326. doi: 10.1038/gim.2016.62. Epub 2016 Jun 9. Genet Med. 2016. PMID: 27280866 Free PMC article. No abstract available.
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
Black HA, Leighton DJ, Cleary EM, Rose E, Stephenson L, Colville S, Ross D, Warner J, Porteous M, Gorrie GH, Swingler R, Goldstein D, Harms MB, Connick P, Pal S, Aitman TJ, Chandran S. Black HA, et al. Among authors: aitman tj. Neurobiol Aging. 2017 Mar;51:178.e11-178.e20. doi: 10.1016/j.neurobiolaging.2016.12.013. Epub 2016 Dec 21. Neurobiol Aging. 2017. PMID: 28089114 Free PMC article.
Complement Factor B Is a Determinant of Both Metabolic and Cardiovascular Features of Metabolic Syndrome.
Coan PM, Barrier M, Alfazema N, Carter RN, Marion de Procé S, Dopico XC, Garcia Diaz A, Thomson A, Jackson-Jones LH, Moyon B, Webster Z, Ross D, Moss J, Arends MJ, Morton NM, Aitman TJ. Coan PM, et al. Among authors: aitman tj. Hypertension. 2017 Jul 24;70(3):624-33. doi: 10.1161/HYPERTENSIONAHA.117.09242. Online ahead of print. Hypertension. 2017. PMID: 28739975 Free PMC article.
Camk2n1 Is a Negative Regulator of Blood Pressure, Left Ventricular Mass, Insulin Sensitivity, and Promotes Adiposity.
Alfazema N, Barrier M, de Procé SM, Menzies RI, Carter R, Stewart K, Diaz AG, Moyon B, Webster Z, Bellamy COC, Arends MJ, Stimson RH, Morton NM, Aitman TJ, Coan PM. Alfazema N, et al. Among authors: aitman tj. Hypertension. 2019 Sep;74(3):687-696. doi: 10.1161/HYPERTENSIONAHA.118.12409. Epub 2019 Jul 22. Hypertension. 2019. PMID: 31327268 Free PMC article.
Longitudinal measurement of HPV copy number in cell-free DNA is associated with patient outcomes in HPV-positive oropharyngeal cancer.
Warlow SJ, Adamowicz M, Thomson JP, Wescott RA, Robert C, Carey LM, Thain H, Cuschieri K, Li LQ, Conn B, Hay A, Nixon IJ, Aitman TJ. Warlow SJ, et al. Among authors: aitman tj. Eur J Surg Oncol. 2022 Jun;48(6):1224-1234. doi: 10.1016/j.ejso.2022.03.232. Epub 2022 Apr 6. Eur J Surg Oncol. 2022. PMID: 35431082 Free article.
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, Fares-Taie L, Black HA, Mitri-Frangieh R, Faucon C, Kaplan J, Patel M, McKie L, Megaw R, Gatsogiannis C, Mohamed MA, Aitken S, Gautier P, Reinholt FR, Hirst RA, O'Callaghan C, Heimdal K, Bottier M, Escudier E, Crowley S, Descartes M, Jabs EW, Kenia P, Amiel J, Bacci GM, Calogero C, Palazzo V, Tiberi L, Blümlein U, Rogers A, Wambach JA, Wegner DJ, Fulton AB, Kenna M, Rosenfeld M, Holm IA, Quigley A, Hall EA, Murphy LC, Cassidy DM, von Kriegsheim A; Scottish Genomes Partnership16; Genomics England Research Consortium45; Undiagnosed Diseases Network46; Papon JF, Pasquier L, Murris MS, Chalmers JD, Hogg C, Macleod KA, Urquhart DS, Unger S, Aitman TJ, Amselem S, Leigh MW, Knowles MR, Omran H, Mitchison HM, Brown A, Marsh JA, Welburn JPI, Ti SC, Horani A, Rozet JM, Perrault I, Mill P. Dodd DO, et al. Among authors: aitman tj. Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. Epub 2024 Apr 26. Science. 2024. PMID: 38662826
Genomic landscape of rat strain and substrain variation.
Hermsen R, de Ligt J, Spee W, Blokzijl F, Schäfer S, Adami E, Boymans S, Flink S, van Boxtel R, van der Weide RH, Aitman T, Hübner N, Simonis M, Tabakoff B, Guryev V, Cuppen E. Hermsen R, et al. BMC Genomics. 2015 May 6;16(1):357. doi: 10.1186/s12864-015-1594-1. BMC Genomics. 2015. PMID: 25943489 Free PMC article.
161 results