Alexandre White-Brown

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders

E. Eichler, N. Brunetti‐Pierri, Yiping Shen, 2022, Science advances.

The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies

T. Hartley, D. Dyment, D. Pohl, 2022, Genes.

A disease‐causing variant in HNRNPH2 inherited from an unaffected mother with skewed X‐inactivation

D. Dyment, J. Bain, Yoko A. Ito, 2021, American journal of medical genetics. Part A.

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

D. Dyment, B. Sadikovic, J. Kerkhof, 2022, Frontiers in Cell and Developmental Biology.

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

R. Weksberg, S. Choufani, D. Dyment, 2023, American journal of medical genetics. Part A.

Interstitial lung disease in a family with bi-allelic variants in ABCA3: non-specific interstitial pneumonitis pattern of injury.

Lijia Huang, S. Sawyer, T. Kovesi, 2023, Pathology.