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

667 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
HostSeq: a Canadian whole genome sequencing and clinical data resource.
Yoo S, Garg E, Elliott LT, Hung RJ, Halevy AR, Brooks JD, Bull SB, Gagnon F, Greenwood C, Lawless JF, Paterson AD, Sun L, Zawati MH, Lerner-Ellis J, Abraham R, Birol I, Bourque G, Garant JM, Gosselin C, Li J, Whitney J, Thiruvahindrapuram B, Herbrick JA, Lorenti M, Reuter MS, Adeoye OO, Liu S, Allen U, Bernier FP, Biggs CM, Cheung AM, Cowan J, Herridge M, Maslove DM, Modi BP, Mooser V, Morris SK, Ostrowski M, Parekh RS, Pfeffer G, Suchowersky O, Taher J, Upton J, Warren RL, Yeung R, Aziz N, Turvey SE, Knoppers BM, Lathrop M, Jones S, Scherer SW, Strug LJ. Yoo S, et al. Among authors: scherer sw. BMC Genom Data. 2023 May 2;24(1):26. doi: 10.1186/s12863-023-01128-3. BMC Genom Data. 2023. PMID: 37131148 Free PMC article.
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.
Moffatt P, Ben Amor M, Glorieux FH, Roschger P, Klaushofer K, Schwartzentruber JA, Paterson AD, Hu P, Marshall C; FORGE Canada Consortium; Fahiminiya S, Majewski J, Beaulieu CL, Boycott KM, Rauch F. Moffatt P, et al. Am J Hum Genet. 2013 Feb 7;92(2):252-8. doi: 10.1016/j.ajhg.2012.12.001. Epub 2013 Jan 3. Am J Hum Genet. 2013. PMID: 23290074 Free PMC article.
Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype.
Fernandez BA, Green JS, Bursey F, Barrett B, MacMillan A, McColl S, Fernandez S, Rahman P, Mahoney K, Pereira SL, Scherer SW, Boycott KM, Woods MO; FORGE Canada Consortium. Fernandez BA, et al. Among authors: scherer sw. BMC Med Genet. 2012 Nov 21;13:111. doi: 10.1186/1471-2350-13-111. BMC Med Genet. 2012. PMID: 23171239 Free PMC article.
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. 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.
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
Srour M, Schwartzentruber J, Hamdan FF, Ospina LH, Patry L, Labuda D, Massicotte C, Dobrzeniecka S, Capo-Chichi JM, Papillon-Cavanagh S, Samuels ME, Boycott KM, Shevell MI, Laframboise R, Désilets V; FORGE Canada Consortium; Maranda B, Rouleau GA, Majewski J, Michaud JL. Srour M, et al. Am J Hum Genet. 2012 Apr 6;90(4):693-700. doi: 10.1016/j.ajhg.2012.02.011. Epub 2012 Mar 15. Am J Hum Genet. 2012. PMID: 22425360 Free PMC article.
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ, Clericuzio CL, Graham JM Jr, Morris-Rosendahl DJ, Polster T, Acsadi G, Townshend S, Williams S, Halbert A, Isidor B, David A, Smyser CD, Paciorkowski AR, Willing M, Woulfe J, Das S, Beaulieu CL, Marcadier J; FORGE Canada Consortium; Geraghty MT, Frey BJ, Majewski J, Bulman DE, Dobyns WB, O'Driscoll M, Boycott KM. McDonell LM, et al. Nat Genet. 2013 May;45(5):556-62. doi: 10.1038/ng.2602. Epub 2013 Mar 31. Nat Genet. 2013. PMID: 23542699 Free PMC article.
Exome sequencing as a diagnostic tool for pediatric-onset ataxia.
Sawyer SL, Schwartzentruber J, Beaulieu CL, Dyment D, Smith A, Warman Chardon J, Yoon G, Rouleau GA, Suchowersky O, Siu V, Murphy L, Hegele RA, Marshall CR; FORGE Canada Consortium; Bulman DE, Majewski J, Tarnopolsky M, Boycott KM. Sawyer SL, et al. Hum Mutat. 2014 Jan;35(1):45-9. doi: 10.1002/humu.22451. Hum Mutat. 2014. PMID: 24108619 Free PMC article.
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.
Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, McMillin M, Scott RH, Racher H; FORGE Canada Consortium; Majewski J, Nickerson DA, Shendure J, Bamshad MJ, Parboosingh JS. Bernier FP, et al. Am J Hum Genet. 2012 May 4;90(5):925-33. doi: 10.1016/j.ajhg.2012.04.004. Epub 2012 Apr 26. Am J Hum Genet. 2012. PMID: 22541558 Free PMC article.
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
Koenekoop RK, Wang H, Majewski J, Wang X, Lopez I, Ren H, Chen Y, Li Y, Fishman GA, Genead M, Schwartzentruber J, Solanki N, Traboulsi EI, Cheng J, Logan CV, McKibbin M, Hayward BE, Parry DA, Johnson CA, Nageeb M; Finding of Rare Disease Genes (FORGE) Canada Consortium; Poulter JA, Mohamed MD, Jafri H, Rashid Y, Taylor GR, Keser V, Mardon G, Xu H, Inglehearn CF, Fu Q, Toomes C, Chen R. Koenekoop RK, et al. Nat Genet. 2012 Sep;44(9):1035-9. doi: 10.1038/ng.2356. Epub 2012 Jul 29. Nat Genet. 2012. PMID: 22842230 Free PMC article.
667 results