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Genescript: DNA sequence annotation pipeline.
Hudek AK, Cheung J, Boright AP, Scherer SW. Hudek AK, et al. Among authors: scherer sw. Bioinformatics. 2003 Jun 12;19(9):1177-8. doi: 10.1093/bioinformatics/btg134. Bioinformatics. 2003. PMID: 12801881
Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting.
Goobie S, Knijnenburg J, Fitzpatrick D, Sharkey FH, Lionel AC, Marshall CR, Azam T, Shago M, Chong K, Mendoza-Londono R, den Hollander NS, Ruivenkamp C, Maher E, Tanke HJ, Szuhai K, Wintle RF, Scherer SW. Goobie S, et al. Among authors: scherer sw. Cytogenet Genome Res. 2008;123(1-4):65-78. doi: 10.1159/000184693. Epub 2009 Mar 11. Cytogenet Genome Res. 2008. PMID: 19287140 Free PMC article.
A genotype resource for postmortem brain samples from the Autism Tissue Program.
Wintle RF, Lionel AC, Hu P, Ginsberg SD, Pinto D, Thiruvahindrapduram B, Wei J, Marshall CR, Pickett J, Cook EH, Scherer SW. Wintle RF, et al. Among authors: scherer sw. Autism Res. 2011 Apr;4(2):89-97. doi: 10.1002/aur.173. Epub 2011 Jan 19. Autism Res. 2011. PMID: 21254448 Free PMC article.
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.
Beaulieu CL, Majewski J, Schwartzentruber J, Samuels ME, Fernandez BA, Bernier FP, Brudno M, Knoppers B, Marcadier J, Dyment D, Adam S, Bulman DE, Jones SJ, Avard D, Nguyen MT, Rousseau F, Marshall C, Wintle RF, Shen Y, Scherer SW; FORGE Canada Consortium; Friedman JM, Michaud JL, Boycott KM. Beaulieu CL, et al. Among authors: scherer sw. Am J Hum Genet. 2014 Jun 5;94(6):809-17. doi: 10.1016/j.ajhg.2014.05.003. Am J Hum Genet. 2014. PMID: 24906018 Free PMC article.
A high-resolution copy-number variation resource for clinical and population genetics.
Uddin M, Thiruvahindrapuram B, Walker S, Wang Z, Hu P, Lamoureux S, Wei J, MacDonald JR, Pellecchia G, Lu C, Lionel AC, Gazzellone MJ, McLaughlin JR, Brown C, Andrulis IL, Knight JA, Herbrick JA, Wintle RF, Ray P, Stavropoulos DJ, Marshall CR, Scherer SW. Uddin M, et al. Among authors: scherer sw. Genet Med. 2015 Sep;17(9):747-52. doi: 10.1038/gim.2014.178. Epub 2014 Dec 11. Genet Med. 2015. PMID: 25503493 Free PMC article.
Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.
Addis L, Ahn JW, Dobson R, Dixit A, Ogilvie CM, Pinto D, Vaags AK, Coon H, Chaste P, Wilson S, Parr JR, Andrieux J, Lenne B, Tumer Z, Leuzzi V, Aubell K, Koillinen H, Curran S, Marshall CR, Scherer SW, Strug LJ, Collier DA, Pal DK. Addis L, et al. Among authors: scherer sw. Hum Mutat. 2015 Sep;36(9):842-50. doi: 10.1002/humu.22816. Epub 2015 Jun 30. Hum Mutat. 2015. PMID: 26010655
Clinically relevant copy number variations detected in cerebral palsy.
Oskoui M, Gazzellone MJ, Thiruvahindrapuram B, Zarrei M, Andersen J, Wei J, Wang Z, Wintle RF, Marshall CR, Cohn RD, Weksberg R, Stavropoulos DJ, Fehlings D, Shevell MI, Scherer SW. Oskoui M, et al. Among authors: scherer sw. Nat Commun. 2015 Aug 3;6:7949. doi: 10.1038/ncomms8949. Nat Commun. 2015. PMID: 26236009 Free PMC article.
655 results