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The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

Journal article

Pagnamenta AT. et al, (2024), The American Journal of Human Genetics, 111, 1140 - 1164

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Journal article

O’Donnell-Luria AH. et al, (2019), The American Journal of Human Genetics, 104, 1210 - 1222