Matthew Osmond

University of Ottawa — Canada

Biochemistry, Genetics and Molecular Biology · Life Sciences

18h-index1.4kcitations52works3.92yr avg
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Research Topics

Genomics and Rare Diseases(18), Genetics and Neurodevelopmental Disorders(13), RNA Research and Splicing(7), Epigenetics and DNA Methylation(6), Cancer Genomics and Diagnostics(6)

Publications47 total

Host constraints on viral recombination and emergence
2025Open Access
The development and usability of ‘The Genetics Navigator’: a digital solution for adult and paediatric clinical genetics services
European Journal of Human Genetics·2025· 2 citedOpen Access
<i>NUBP2</i> deficiency disrupts the centrosome-check point in the brain and causes primary microcephaly
2025Open Access
One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient Matchmaking.
PubMed·2025Open Access
<i>POLR3B</i> is associated with a developmental and epileptic encephalopathy with myoclonic‐atonic seizures and ataxia
Epilepsia·2024· 10 citedOpen Access
One-Sided Matching Portal (OSMP): a tool to facilitate rare disease patient matchmaking
2024· 1 citedOpen Access
Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations
BMJ Open·2024· 2 citedOpen Access
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
Nature Communications·2024· 4 citedOpen Access
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features
The American Journal of Human Genetics·2024Open Access
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
The American Journal of Human Genetics·2024Open Access
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features
The American Journal of Human Genetics·2024· 4 citedOpen Access
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
The American Journal of Human Genetics·2024Open Access
Genetics providers’ perspectives on the use of digital tools in clinical practice
Genetics in Medicine·2024· 6 citedOpen Access
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
Science Translational Medicine·2023· 34 citedOpen Access
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals
European Journal of Human Genetics·2023· 8 citedOpen Access
Finding the sweet spot: a qualitative study exploring patients’ acceptability of chatbots in genetic service delivery
Human Genetics·2023· 31 citedOpen Access
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
The American Journal of Human Genetics·2022· 15 citedOpen Access
Rare diseases and space health: optimizing synergies from scientific questions to care
npj Microgravity·2022· 5 citedOpen Access
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data
Clinical Genetics·2022· 9 cited
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
American Journal of Medical Genetics Part A·2022· 2 cited
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Frequent Co-authors

Kym M. Boycott(17), David A. Dyment(11), Michael Brudno(11), Taila Hartley(10), Kristin D. Kernohan(9), Hanna Faghfoury(7), Robin Z. Hayeems(7), Christian R. Marshall(7), Reza Maroofian(6), Kirsty McWalter(6), Josh Silver(6), Isabelle Thiffault(6), Orion J. Buske(6), James R. Lupski(6), Stéphanie Efthymiou(5), Richard Person(5), Henry Houlden(5), Shelagh Joss(5), Stephanie Luca(5), Gregory Costain(5)