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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: ross d. 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.
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.
Kapferer-Seebacher I, Pepin M, Werner R, Aitman TJ, Nordgren A, Stoiber H, Thielens N, Gaboriaud C, Amberger A, Schossig A, Gruber R, Giunta C, Bamshad M, Björck E, Chen C, Chitayat D, Dorschner M, Schmitt-Egenolf M, Hale CJ, Hanna D, Hennies HC, Heiss-Kisielewsky I, Lindstrand A, Lundberg P, Mitchell AL, Nickerson DA, Reinstein E, Rohrbach M, Romani N, Schmuth M, Silver R, Taylan F, Vandersteen A, Vandrovcova J, Weerakkody R, Yang M, Pope FM; Molecular Basis of Periodontal EDS Consortium; Byers PH, Zschocke J. Kapferer-Seebacher I, et al. Am J Hum Genet. 2016 Nov 3;99(5):1005-1014. doi: 10.1016/j.ajhg.2016.08.019. Epub 2016 Oct 13. Am J Hum Genet. 2016. PMID: 27745832 Free PMC article.
Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.
Weerakkody R, Ross D, Parry DA, Ziganshin B, Vandrovcova J, Gampawar P, Abdullah A, Biggs J, Dumfarth J, Ibrahim Y; Yale Aortic Institute Data and Repository Team; Bicknell C, Field M, Elefteriades J, Cheshire N, Aitman TJ. Weerakkody R, et al. Among authors: ross d. Genet Med. 2018 Nov;20(11):1414-1422. doi: 10.1038/gim.2018.27. Epub 2018 Mar 15. Genet Med. 2018. PMID: 29543232 Free PMC 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: ross d. 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: ross d. 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: ross d. 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.
Corrigendum to "Genetic epidemiology of motor neuron disease-associated variants in the Scottish population." [Neurobiol. Aging 51 (2017) 178.e11-178.e20].
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: ross d. Neurobiol Aging. 2017 Aug;56:214. doi: 10.1016/j.neurobiolaging.2017.04.019. Neurobiol Aging. 2017. PMID: 28606583 Free PMC article. No abstract available.
Real-World Treatment Patterns and Healthcare Resource Use for Patients with Myelofibrosis: Results from the METER Study.
Gupta V, Tomuleasa C, Barranco G, Hou HA, Helbig G, Vachhani P, Symeonidis A, Haznedaroglu IC, Galvez K, Tatsch F, Chopra AS, Zhang M, Vizkelety T, Murray BC, Ross DM. Gupta V, et al. Among authors: ross dm. Blood Adv. 2024 Dec 27:bloodadvances.2024014625. doi: 10.1182/bloodadvances.2024014625. Online ahead of print. Blood Adv. 2024. PMID: 39729499
4,262 results