Priyanka Ahimaz

Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans

Hsiang‐Chih Lu, Qiumin Tan, Maxime W.C. Rousseaux et al. · Nature Genetics · 2017 · 155 citations · Full text

Life Sciences, Genetics, Neuroscience +14

De novo mutations in <i>PURA</i> are associated with hypotonia and developmental delay

Akemi Tanaka, Renkui Bai, Megan T. Cho et al. · Molecular Case Studies · 2015 · 68 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact

Julia Wynn, Ruth Ottman, J. Duong et al. · Clinical Genetics · 2017 · 61 citations

Life Sciences, Genetics, Psychology +13

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

Richard H. van Jaarsveld, Jack Reilly, Marie-Claire Cornips et al. · Genetics in Medicine · 2022 · 38 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis

Mythily Ganapathi, Loukas Argyriou, Francisco Martínez‐Azorín et al. · Human Genetics · 2020 · 32 citations · Full text

Medicine, Genetics, Molecular Genetics +16