Alka Chaubey

A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation

Luigi Boccuto, Kazuhiro Aoki, Heather Flanagan‐Steet et al. · Human Molecular Genetics · 2013 · 177 citations · Full text

Genetics, Glycobiology, Molecular Biology +17

An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity

Kyoko Takano, Dan Liu, Patrick Tarpey et al. · Human Molecular Genetics · 2012 · 94 citations · Full text

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

Jennelle C. Hodge, Elyse Mitchell, Vamsee Pillalamarri et al. · Molecular Psychiatry · 2013 · 66 citations · Full text

Mbd5 Contributes, Psychiatry, Neurodevelopmental Abnormalities +9

Clinical Validation and Diagnostic Utility of Optical Genome Mapping for Enhanced Cytogenomic Analysis of Hematological Neoplasms

Nikhil Sahajpal, Ashis K. Mondal, Tatiana Tvrdik et al. · Journal of Molecular Diagnostics · 2022 · 56 citations · Full text

Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment

Ying F. Liu, Sarah M. Sowell, Yue Luo et al. · PLoS ONE · 2015 · 50 citations · Full text

Brain Development, Kirrel3 Colocalization, Molecular Biology +20