Associated Papers
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Layo-Carris DE et al.
European Journal of Human Genetics : Ejhg, 2024
38678163 (PubMed )
Supplement: 41431_2024_1610_MOESM3_ESM.xlsx › Main_sheet
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.
Costain G et al.
Jama Network Open, 2020
Genome sequencing in persistently unsolved white matter disorders.
Helman G et al.
Annals of Clinical and Translational Neurology, 2020
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