Matthew Osmond - Concepedia

Author

Matthew Osmond

Children's Hospital of Eastern Ontario ORCID

Also Known As

Amisha B Patel, Christian Marshall, Christian R. Marshall, L. Orec, M. Osmond, Matt Osmond, Matthew Osmond, Samuel Grant

Publications

1.4K

Citations

H-Index

Concepts

All Affiliations

Children's Hospital of Eastern Ontario University of Ottawa Inserm Centre National de la Recherche Scientifique Assistance Publique – Hôpitaux de Paris

About

Matthew Osmond is an author at Children's Hospital of Eastern Ontario specializing in medicine, genetics, and genomics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	8	8	251
2	Public Health	2	2	41
3	Social Sciences	2	2	69
4	Engineering	1	1	17
5	Natural Sciences	1	1	81

Matthew Osmond

Publications

1.2K

Citations

H-Index

Page 1

	Year	Citations
Spatial and temporal homogeneity of driver mutations in diffuse intrinsic pontine glioma Hamid Nikbakht, Eshini Panditharatna, Leonie G. Mikael, Nature Communications	2016	255
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Nature Communications	2019	236
Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles Ngoc Minh Nguyen, Zhao‐Jia Ge, Ramesh Reddy, The American Journal of Human Genetics	2018	111
Germline AGO2 mutations impair RNA interference and human neurological development Davor Lessel, Daniela M. Zeitler, Margot R.F. Reijnders, Nature Communications	2020	97
Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway Faraz Farooq, Francisco Abadía Molina, Jeremiah Hadwen, Journal of Clinical Investigation SclerostinCytoskeletonProgressive Muscle AtrophyCellular PhysiologyProteomics	2011	81
<i>PDXK</i> mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation Viorica Chelban, Matthew P. Wilson, Jodi Warman‐Chardon, Annals of Neurology	2019	72
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction Joery den Hoed, Elke de Boer, Norine Voisin, The American Journal of Human Genetics Neurodevelopmental DisordersDifferent Neurodevelopmental DisordersNeurodegenerative DiseasesDevelopmental BiologyMendelian Disorder	2021	54
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features Dong Li, Qin Wang, Allan Bayat, Journal of Clinical Investigation	2023	41
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production Frédéric Ebstein, Sébastien Küry, Victoria Most, Science Translational Medicine	2023	34
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11 Thomas A. Ravenscroft, Jennifer B. Phillips, Elizabeth L. Fieg, Genetics in Medicine	2021	26

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