Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal AcidificationElena‐Raluca Nicoli, Braden Boone, Austin Larson et al.|The American Journal of Human Genetics|2019Cited by 97
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital DefectsAndrea Accogli, Lindsay C. Burrage, Sara Calabretta et al.|The American Journal of Human Genetics|2019Cited by 51