David Dyment

None None 5 collaborations

Matthew Osmond 4 collaborations

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Affiliations

Publications (15)

Gain-of-function variants in the ion channel gene

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Development of Criteria for Epilepsy Genetic Testing in Ontario, Canada.

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for rare disease patients in a publicly-funded healthcare system: a prospective cohort study.

The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.

CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.

POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

Monogenic variants in dystonia: an exome-wide sequencing study.

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.

Missense variant in SRCAP with distinct DNA methylation signature associated with non-FLHS SRCAP-related neurodevelopmental disorder.

Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its wolf-hirschhorn associated DNA methylation episignature.

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