Ricardo Harripaul

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families

Ricardo Harripaul, Nasim Vasli, Muhammad Rafiq et al. · Molecular Psychiatry · 2017 · 183 citations

Life Sciences, Genetics, Molecular Genetics +17

Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability

Taimoor I. Sheikh, Nasim Vasli, Stephen F. Pastore et al. · Translational Psychiatry · 2021 · 149 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations

Anita Villani, Scott Davidson, Nisha Kanwar et al. · Nature Cancer · 2022 · 127 citations · Full text

Medicine, Genetics, Oncology +17

Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

Anide Johansen, Rasim Özgür Rosti, Damir Musaev et al. · The American Journal of Human Genetics · 2016 · 91 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Andreea Manole, Stéphanie Efthymiou, Emer O’Connor et al. · The American Journal of Human Genetics · 2020 · 64 citations · Full text

Life Sciences, Genetics, Neuroscience +17