Alexandre White‐Brown

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

Xiangbin Jia, S. Zhang, Senwei Tan et al. · Science Advances · 2022 · 55 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations

Sadegheh Haghshenas, Karim Karimi, Roger E. Stevenson et al. · The American Journal of Human Genetics · 2024 · 13 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

Heather Leduc‐Pessah, Alexandre White‐Brown, Taila Hartley et al. · Genes · 2022 · 12 citations · Full text

Medicine, Genetics, Pediatrics +11

A disease‐causing variant in <scp><i>HNRNPH2</i></scp> inherited from an unaffected mother with skewed X‐inactivation

Alexandre White‐Brown, Gabrielle Lemire, Yoko Itō et al. · American Journal of Medical Genetics Part A · 2021 · 11 citations

Life Sciences, Genetics, Molecular Genetics +9

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

Haley McConkey, Alexandre White‐Brown, Jennifer Kerkhof et al. · Frontiers in Cell and Developmental Biology · 2022 · 10 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17