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Page 1
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, López-González V, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Schönewolf-Greulich B, Shears DJ, Silver J, Smith AC, Temple IK; UCLA Clinical Genomics Center; van de Kamp JM, van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R; Care4Rare Canada Consortium; Bulman DE, Boycott KM, Lines MA. Huang L, et al. Among authors: osmond m. Hum Mutat. 2016 Feb;37(2):148-54. doi: 10.1002/humu.22924. Epub 2015 Nov 19. Hum Mutat. 2016. PMID: 26507355 Free PMC article. Review.
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, Nellaker C, Amudhavalli SM, Banka S, Bena FS, Ben-Zeev B, Bonagura VR, Bruel AL, Brunet T, Brunner HG, Chew HB, Chrast J, Cimbalistienė L, Coon H; DDD Study; Délot EC, Démurger F, Denommé-Pichon AS, Depienne C, Donnai D, Dyment DA, Elpeleg O, Faivre L, Gilissen C, Granger L, Haber B, Hachiya Y, Abedi YH, Hanebeck J, Hehir-Kwa JY, Horist B, Itai T, Jackson A, Jewell R, Jones KL, Joss S, Kashii H, Kato M, Kattentidt-Mouravieva AA, Kok F, Kotzaeridou U, Krishnamurthy V, Kučinskas V, Kuechler A, Lavillaureix A, Liu P, Manwaring L, Matsumoto N, Mazel B, McWalter K, Meiner V, Mikati MA, Miyatake S, Mizuguchi T, Moey LH, Mohammed S, Mor-Shaked H, Mountford H, Newbury-Ecob R, Odent S, Orec L, Osmond M, Palculict TB, Parker M, Petersen AK, Pfundt R, Preikšaitienė E, Radtke K, Ranza E, Rosenfeld JA, Santiago-Sim T, Schwager C, Sinnema M, Snijders Blok L, Spillmann RC, Stegmann APA, Thiffault I, Tran L, Vaknin-Dembinsky A, Vedovato-Dos-Santos JH, Schrier Vergano SA, Vilain E, Vitobello A, Wagner M, Waheeb A, Willing M, Zuccarelli B, Kini U, Newbury DF, Kleefstra T, Reymond A, Fisher SE, Vissers LELM. den Hoed J, et al. Among authors: osmond m. Am J Hum Genet. 2021 Feb 4;108(2):346-356. doi: 10.1016/j.ajhg.2021.01.007. Epub 2021 Jan 28. Am J Hum Genet. 2021. PMID: 33513338 Free PMC article.
PhenomeCentral: 7 years of rare disease matchmaking.
Osmond M, Hartley T, Johnstone B, Andjic S, Girdea M, Gillespie M, Buske O, Dumitriu S, Koltunova V, Ramani A, Boycott KM, Brudno M. Osmond M, et al. Hum Mutat. 2022 Jun;43(6):674-681. doi: 10.1002/humu.24348. Epub 2022 Feb 22. Hum Mutat. 2022. PMID: 35165961
Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery.
Driver HG, Hartley T, Price EM, Turinsky AL, Buske OJ, Osmond M, Ramani AK, Kirby E, Kernohan KD, Couse M, Elrick H, Lu K, Mashouri P, Mohan A, So D, Klamann C, Le HGBH, Herscovich A, Marshall CR, Statia A, Canada Consortium CR, Knoppers BM, Brudno M, Boycott KM. Driver HG, et al. Among authors: osmond m. Hum Mutat. 2022 Jun;43(6):800-811. doi: 10.1002/humu.24354. Epub 2022 Mar 9. Hum Mutat. 2022. PMID: 35181971 Free PMC article.
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.
Huang Y, Lemire G, Briere LC, Liu F, Wessels MW, Wang X, Osmond M, Kanca O, Lu S, High FA, Walker MA, Rodan LH; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Kernohan KD, Sweetser DA, Boycott KM, Bellen HJ. Huang Y, et al. Among authors: osmond m. Am J Hum Genet. 2022 Oct 6;109(10):1923-1931. doi: 10.1016/j.ajhg.2022.08.011. Epub 2022 Sep 5. Am J Hum Genet. 2022. PMID: 36067766 Free PMC article.
The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience.
Ediae GU, Lemire G, Chisholm C, Hartley T, Eaton A, Osmond M, Rojas SK, Huang L, Gillespie M; Care4Rare Canada Consortium; Sawyer SL, Boycott KM. Ediae GU, et al. Among authors: osmond m. Am J Med Genet A. 2023 Feb;191(2):338-347. doi: 10.1002/ajmg.a.63022. Epub 2022 Nov 4. Am J Med Genet A. 2023. PMID: 36331261
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Hartley T, Soubry É, Acker M, Osmond M, Couse M, Gillespie MK, Ito Y, Marshall AE, Lemire G, Huang L, Chisholm C, Eaton AJ, Price EM, Dowling JJ, Ramani AK, Mendoza-Londono R, Costain G, Axford MM, Szuto A, McNiven V, Damseh N, Jobling R, de Kock L, Mojarad BA, Young T, Shao Z, Hayeems RZ, Graham ID, Tarnopolsky M, Brady L, Armour CM, Geraghty M, Richer J, Sawyer S, Lines M, Mercimek-Andrews S, Carter MT, Graham G, Kannu P, Lazier J, Li C, Aul RB, Balci TB, Dlamini N, Badalato L, Guerin A, Walia J, Chitayat D, Cohn R, Faghfoury H, Forster-Gibson C, Gonorazky H, Grunebaum E, Inbar-Feigenberg M, Karp N, Morel C, Rusnak A, Sondheimer N, Warman-Chardon J, Bhola PT, Bourque DK, Chacon IJ, Chad L, Chakraborty P, Chong K, Doja A, Goh ES, Saleh M; Care4Rare Canada; Potter BK, Marshall CR, Dyment DA, Kernohan K, Boycott KM. Hartley T, et al. Among authors: osmond m. Clin Genet. 2023 Mar;103(3):288-300. doi: 10.1111/cge.14262. Epub 2022 Nov 29. Clin Genet. 2023. PMID: 36353900
203 results