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126 results
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease.
Dilliott AA, Farhan SMK, Ghani M, Sato C, Liang E, Zhang M, McIntyre AD, Cao H, Racacho L, Robinson JF, Strong MJ, Masellis M, Bulman DE, Rogaeva E, Lang A, Tartaglia C, Finger E, Zinman L, Turnbull J, Freedman M, Swartz R, Black SE, Hegele RA. Dilliott AA, et al. Among authors: bulman de. J Vis Exp. 2018 Apr 4;(134):57266. doi: 10.3791/57266. J Vis Exp. 2018. PMID: 29683450 Free PMC article.
The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration.
Farhan SMK, Dilliott AA, Ghani M, Sato C, Liang E, Zhang M, McIntyre AD, Cao H, Racacho L, Robinson JF, Strong MJ, Masellis M, St George-Hyslop P, Bulman DE, Rogaeva E, Hegele RA; ONDRI Investigators. Farhan SMK, et al. Among authors: bulman de. NPJ Genom Med. 2016 Sep 21;1:16032. doi: 10.1038/npjgenmed.2016.32. eCollection 2016. NPJ Genom Med. 2016. PMID: 29263818 Free PMC article.
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
Daoud H, Luco SM, Li R, Bareke E, Beaulieu C, Jarinova O, Carson N, Nikkel SM, Graham GE, Richer J, Armour C, Bulman DE, Chakraborty P, Geraghty M, Lines MA, Lacaze-Masmonteil T, Majewski J, Boycott KM, Dyment DA. Daoud H, et al. Among authors: bulman de. CMAJ. 2016 Aug 9;188(11):E254-E260. doi: 10.1503/cmaj.150823. Epub 2016 May 30. CMAJ. 2016. PMID: 27241786 Free PMC article.
Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.
Aref-Eshghi E, Rodenhiser DI, Schenkel LC, Lin H, Skinner C, Ainsworth P, Paré G, Hood RL, Bulman DE, Kernohan KD; Care4Rare Canada Consortium, Boycott KM, Campeau PM, Schwartz C, Sadikovic B. Aref-Eshghi E, et al. Among authors: bulman de. Am J Hum Genet. 2018 Jan 4;102(1):156-174. doi: 10.1016/j.ajhg.2017.12.008. Am J Hum Genet. 2018. PMID: 29304373 Free PMC article.
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL; Finding of Rare Disease Genes (FORGE) Canada Consortium, Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB. Rivière JB, et al. Among authors: bulman de. Nat Genet. 2012 Jun 24;44(8):934-40. doi: 10.1038/ng.2331. Nat Genet. 2012. PMID: 22729224 Free PMC article.
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