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Matthew Osmond
Matthew Osmond
Project Manager, Children's Hospital of Eastern Ontario Research Institute
在 cheo.on.ca 的电子邮件经过验证 - 首页
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年份
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
2482016
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
2122019
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
1042011
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
822018
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
722019
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
652016
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
622020
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
432021
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
172022
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
172021
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
162022
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
162021
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
132022
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
112022
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
102022
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
102021
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
72023
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
72021
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
62024
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
62023
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