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David Dyment

29PUBLICATIONS

104CO-AUTHORS

NeurogeneticsGene expression (incl. microarray and other genome-wide approaches)Gene and molecular therapyGene mappingDevelopmental genetics (incl. sex determination)

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Publications (29)

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|Sep 23, 2025

A Noncanonical Splice Variant in RTEL1 Responsible for Familial Pulmonary Fibrosis.

Alexandre White-Brown, Aren Marshall, Xueqi Wang

|Jun 23, 2025

Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study.

Alexanne Cuillerier, Andrea Goodman, Chloe Lawrence

|Apr 07, 2025

FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium.

Alexanne Cuillerier, Giulia F Del Gobbo, Layla Mackay

|Jan 03, 2025

Phenotype Spectrum of TRPM3-Associated Disorders.

Laura Jolitz, Ingo Helbig, Mark P Fitzgerald

|Sep 30, 2024

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

Joseph D Symonds, Kristen L Park, Cyril Mignot

|Feb 04, 2024

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.

Sandra Donkervoort, Payam Mohassel, Melanie O'Leary

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Frequent Collaborators

11 joint publications

Kym M Boycott

4 joint publications

Taila Hartley

4 joint publications

Hugh J McMillan

3 joint publications

A Micheil Innes

2 joint publications

Ari Breiner

2 joint publications

John Woulfe

2 joint publications

Gerd Melkus

2 joint publications

Hanns Lochmüller

2 joint publications

Pierre R Bourque

2 joint publications

Sander Pajusalu

Frequent Collaborators

11 joint publications

Kym M Boycott

4 joint publications

Taila Hartley

4 joint publications

Hugh J McMillan

3 joint publications

A Micheil Innes

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