Spatial and temporal homogeneity of driver mutations in diffuse intrinsic pontine glioma H Nikbakht, E Panditharatna, LG Mikael, R Li, T Gayden, M Osmond, ... Nature communications 7 (1), 11185, 2016 | 248 | 2016 |
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 212 | 2019 |
Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway F Farooq, FA Molina, J Hadwen, D MacKenzie, L Witherspoon, M Osmond, ... The Journal of clinical investigation 121 (8), 3042-3050, 2011 | 104 | 2011 |
Causative mutations and mechanism of androgenetic hydatidiform moles NMP Nguyen, ZJ Ge, R Reddy, S Fahiminiya, P Sauthier, R Bagga, ... The American Journal of Human Genetics 103 (5), 740-751, 2018 | 82 | 2018 |
PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation V Chelban, MP Wilson, J Warman Chardon, J Vandrovcova, MN Zanetti, ... Annals of Neurology 86 (2), 225-240, 2019 | 72 | 2019 |
Mandibulofacial dysostosis with microcephaly: mutation and database update L Huang, MR Vanstone, T Hartley, M Osmond, N Barrowman, J Allanson, ... Human mutation 37 (2), 148-154, 2016 | 65 | 2016 |
Germline AGO2 mutations impair RNA interference and human neurological development D Lessel, DM Zeitler, MRF Reijnders, A Kazantsev, F Hassani Nia, ... Nature communications 11 (1), 5797, 2020 | 62 | 2020 |
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction J Den Hoed, E de Boer, N Voisin, AJM Dingemans, N Guex, L Wiel, ... The American Journal of Human Genetics 108 (2), 346-356, 2021 | 43 | 2021 |
Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada M Osmond, T Hartley, DA Dyment, KD Kernohan, M Brudno, OJ Buske, ... Genetics in Medicine 24 (1), 100-108, 2022 | 17 | 2022 |
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11 TA Ravenscroft, JB Phillips, E Fieg, SS Bajikar, J Peirce, J Wegner, ... Genetics in medicine 23 (10), 1889-1900, 2021 | 17 | 2021 |
PhenomeCentral: 7 years of rare disease matchmaking M Osmond, T Hartley, B Johnstone, S Andjic, M Girdea, M Gillespie, ... Human Mutation 43 (6), 674-681, 2022 | 16 | 2022 |
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies M Iqbal, R Maroofian, B Çavdarlı, F Riccardi, M Field, S Banka, ... Genetics in Medicine 23 (11), 2138-2149, 2021 | 16 | 2021 |
The recurrent de novo c. 2011C> T missense variant in MTSS2 causes syndromic intellectual disability Y Huang, G Lemire, LC Briere, F Liu, MW Wessels, X Wang, M Osmond, ... The American Journal of Human Genetics 109 (10), 1923-1931, 2022 | 13 | 2022 |
Genomics4RD: An integrated platform to share Canadian deep‐phenotype and multiomic data for international rare disease gene discovery HG Driver, T Hartley, EM Price, AL Turinsky, OJ Buske, M Osmond, ... Human Mutation 43 (6), 800-811, 2022 | 11 | 2022 |
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype SM Hiatt, S Trajkova, MR Sebastiano, EC Partridge, FE Abidi, A Anderson, ... The American Journal of Human Genetics, 2022 | 10 | 2022 |
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly RE Schnur, S Yousaf, J Liu, WK Chung, L Rhodes, M Marble, ... Genetics in Medicine 23 (9), 1624-1635, 2021 | 10 | 2021 |
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data T Hartley, É Soubry, M Acker, M Osmond, M Couse, MK Gillespie, Y Ito, ... Clinical Genetics 103 (3), 288-300, 2023 | 7 | 2023 |
Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature HJ McMillan, J Davila, M Osmond, P Chakraborty, ... American Journal of Medical Genetics Part A 185 (11), 3502-3506, 2021 | 7 | 2021 |
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 MS Paul, SL Michener, H Pan, H Chan, JM Pfliger, JA Rosenfeld, ... The American Journal of Human Genetics 111 (1), 96-118, 2024 | 6 | 2024 |
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals HL Sczakiel, M Zhao, B Wollert-Wulf, M Danyel, N Ehmke, C Stoltenburg, ... European Journal of Human Genetics, 1-13, 2023 | 6 | 2023 |