Sandhya Parkash

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 354 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

Duane L. Guernsey, Makoto Matsuoka, Haiyan Jiang et al. · Nature Genetics · 2011 · 171 citations

Life Sciences, Genetics, Molecular Genetics +5

A mutation update on the LDS-associated genes<i>TGFB2/3</i>and<i>SMAD2/3</i>

Dorien Schepers, Giada Tortora, Hiroko Morisaki et al. · Human Mutation · 2018 · 168 citations · Full text

Medicine, Craniofacial Biology, Molecular Genetics +17

Phenotypic Overlap Between Familial Exudative Vitreoretinopathy and Microcephaly, Lymphedema, and Chorioretinal Dysplasia Caused by<i>KIF11</i>Mutations

Johane M. Robitaille, Roxanne M. Gillett, Marissa A. LeBlanc et al. · JAMA Ophthalmology · 2014 · 138 citations

Medicine, Genetics, Ophthalmology +16

Phenotypic spectrum associated with <i><scp>PTCHD1</scp></i> deletions and truncating mutations includes intellectual disability and autism spectrum disorder

Ayeshah Chaudhry, Abdul Noor, Bryan Degagne et al. · Clinical Genetics · 2014 · 72 citations

Life Sciences, Genetics, Molecular Genetics +17