Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

61 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder.
Carter MT, Nikkel SM, Fernandez BA, Marshall CR, Noor A, Lionel AC, Prasad A, Pinto D, Joseph-George AM, Noakes C, Fairbrother-Davies C, Roberts W, Vincent J, Weksberg R, Scherer SW. Carter MT, et al. Among authors: nikkel sm. Clin Genet. 2011 Nov;80(5):435-43. doi: 10.1111/j.1399-0004.2010.01578.x. Epub 2010 Nov 29. Clin Genet. 2011. PMID: 21114665
Whole-exome sequencing expands the phenotype of Hunter syndrome.
Nikkel SM, Huang L, Lachman R, Beaulieu CL, Schwartzentruber J, Majewski J, Geraghty MT, Boycott KM; FORGE Canada Consortium. Nikkel SM, et al. Clin Genet. 2014 Aug;86(2):172-6. doi: 10.1111/cge.12236. Epub 2013 Jul 28. Clin Genet. 2014. PMID: 23844659
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium; Majewski J, Boycott KM. Sawyer SL, et al. Among authors: nikkel sm. Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22. Clin Genet. 2016. PMID: 26283276 Free PMC article. Review.
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J; FORGE Canada Consortium; Majewski J, Bulman DE, White SM, Boycott KM. Hood RL, et al. Among authors: nikkel sm. Am J Hum Genet. 2012 Feb 10;90(2):308-13. doi: 10.1016/j.ajhg.2011.12.001. Epub 2012 Jan 19. Am J Hum Genet. 2012. PMID: 22265015 Free PMC article.
A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature.
Bourque DK, Hartley T, Nikkel SM, Pohl D, Tétreault M, Kernohan KD; Care4Rare Canada Consortium; Dyment DA. Bourque DK, et al. Among authors: nikkel sm. Eur J Med Genet. 2018 Feb;61(2):89-93. doi: 10.1016/j.ejmg.2017.10.011. Epub 2017 Oct 21. Eur J Med Genet. 2018. PMID: 29066376 Review.
Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria.
Brooks-Wilson AR, Kaurah P, Suriano G, Leach S, Senz J, Grehan N, Butterfield YS, Jeyes J, Schinas J, Bacani J, Kelsey M, Ferreira P, MacGillivray B, MacLeod P, Micek M, Ford J, Foulkes W, Australie K, Greenberg C, LaPointe M, Gilpin C, Nikkel S, Gilchrist D, Hughes R, Jackson CE, Monaghan KG, Oliveira MJ, Seruca R, Gallinger S, Caldas C, Huntsman D. Brooks-Wilson AR, et al. J Med Genet. 2004 Jul;41(7):508-17. doi: 10.1136/jmg.2004.018275. J Med Genet. 2004. PMID: 15235021 Free PMC article.
61 results