Muna Al‐Saffar

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

Timothy W. Yu, Maria H. Chahrour, Michael E. Coulter et al. · Neuron · 2013 · 459 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior

Ryan N. Doan, Byoung-Il Bae, Beatriz Cubelos et al. · Cell · 2016 · 382 citations · Full text

Life Sciences, Genetics, Neuroscience +14

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract

Amelie T. van der Ven, Dervla M. Connaughton, Hadas Ityel et al. · Journal of the American Society of Nephrology · 2018 · 210 citations

Medicine, Genetics, Molecular Genetics +17

A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts

Ganeshwaran H. Mochida, Vijay Ganesh, Jillian M. Felie et al. · The American Journal of Human Genetics · 2010 · 108 citations · Full text

Life Sciences, Genetics, Neuroscience +11

Deletions in <i>GRID2</i> lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

L. Benjamin Hills, Amira Masri, Kotaro Konno et al. · Neurology · 2013 · 102 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17