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1,280 results

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Mutations in PIK3R1 cause SHORT syndrome.
Dyment DA, Smith AC, Alcantara D, Schwartzentruber JA, Basel-Vanagaite L, Curry CJ, Temple IK, Reardon W, Mansour S, Haq MR, Gilbert R, Lehmann OJ, Vanstone MR, Beaulieu CL; FORGE Canada Consortium; Majewski J, Bulman DE, O'Driscoll M, Boycott KM, Innes AM. Dyment DA, et al. Among authors: smith ac. Am J Hum Genet. 2013 Jul 11;93(1):158-66. doi: 10.1016/j.ajhg.2013.06.005. Epub 2013 Jun 27. Am J Hum Genet. 2013. PMID: 23810382 Free PMC article.
LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues.
Chardon JW, Smith AC, Woulfe J, Pena E, Rakhra K, Dennie C, Beaulieu C, Huang L, Schwartzentruber J, Hawkins C, Harms MB, Dojeiji S, Zhang M; FORGE Canada Consortium; Majewski J, Bulman DE, Boycott KM, Dyment DA. Chardon JW, et al. Among authors: smith ac. Clin Genet. 2015 Dec;88(6):558-64. doi: 10.1111/cge.12561. Epub 2015 Feb 26. Clin Genet. 2015. PMID: 25589244
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.
Balci TB, Hartley T, Xi Y, Dyment DA, Beaulieu CL, Bernier FP, Dupuis L, Horvath GA, Mendoza-Londono R, Prasad C, Richer J, Yang XR, Armour CM, Bareke E, Fernandez BA, McMillan HJ, Lamont RE, Majewski J, Parboosingh JS, Prasad AN, Rupar CA, Schwartzentruber J, Smith AC, Tétreault M; FORGE Canada Consortium; Care4Rare Canada Consortium; Innes AM, Boycott KM. Balci TB, et al. Among authors: smith ac. Clin Genet. 2017 Sep;92(3):281-289. doi: 10.1111/cge.12987. Epub 2017 Mar 13. Clin Genet. 2017. PMID: 28170084
Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.
Venkateswaran S, Myers KA, Smith AC, Beaulieu CL, Schwartzentruber JA; FORGE Canada Consortium; Majewski J, Bulman D, Boycott KM, Dyment DA. Venkateswaran S, et al. Among authors: smith ac. Epilepsia. 2014 Jul;55(7):e75-9. doi: 10.1111/epi.12663. Epub 2014 Jun 5. Epilepsia. 2014. PMID: 24903190 Free article.
Fragile X testing as a second-tier test.
Hartley T, Potter R, Badalato L, Smith AC, Jarinova O, Boycott KM. Hartley T, et al. Among authors: smith ac. Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.147. Epub 2017 Sep 14. Genet Med. 2017. PMID: 28914265 Free article. No abstract available.
A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9.
Smith AC, Ito Y, Ahmed A, Schwartzentruber JA, Beaulieu CL, Aberg E, Majewski J, Bulman DE, Horsting-Wethly K, Koning DV; Care4Rare Canada Consortium; Rodenburg RJ, Boycott KM, Penney LS. Smith AC, et al. J Inherit Metab Dis. 2018 Jul;41(4):719-729. doi: 10.1007/s10545-017-0122-7. Epub 2018 Mar 20. J Inherit Metab Dis. 2018. PMID: 29560582
A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys.
Ito YA, Smith AC, Kernohan KD, Pena IA, Ahmed A, McDonell LM, Beaulieu C, Bulman DE, Smidt A, Sawyer SL; Care4Rare Canada Consortium; Dyment DA, Boycott KM, Clericuzio CL. Ito YA, et al. Among authors: smith ac. Clin Genet. 2018 Oct;94(3-4):303-312. doi: 10.1111/cge.13388. Epub 2018 Jun 29. Clin Genet. 2018. PMID: 29851065
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.
Dyment DA, Sell E, Vanstone MR, Smith AC, Garandeau D, Garcia V, Carpentier S, Le Trionnaire E, Sabourdy F, Beaulieu CL, Schwartzentruber JA, McMillan HJ; FORGE Canada Consortium; Majewski J, Bulman DE, Levade T, Boycott KM. Dyment DA, et al. Among authors: smith ac. Clin Genet. 2014 Dec;86(6):558-63. doi: 10.1111/cge.12307. Epub 2013 Nov 21. Clin Genet. 2014. PMID: 24164096
1,280 results