Lihadh Al‐Gazali

An SCN9A channelopathy causes congenital inability to experience pain

James J. Cox, Frank Reimann, Adeline K. Nicholas et al. · Nature · 2006 · 1.6K citations · Full text

Channelopathies, Pain Syndrome, Pain Medicine +4

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

Timothy W. Yu, Maria H. Chahrour, Michael E. Coulter et al. · Neuron · 2013 · 456 citations · Full text

Whole-exome Sequencing, Genetics, Syndromic Autism +1

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Stephanie Bielas, Jennifer L. Silhavy, Francesco Brancati et al. · Nature Genetics · 2009 · 408 citations · Full text

Signal Transduction, Signaling Pathway, Cell Signaling +9

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Enza Maria Valente, Jennifer L. Silhavy, Francesco Brancati et al. · Nature Genetics · 2006 · 400 citations

Developmental Biology, Mendelian Disorder, Joubert Syndrome +9

Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

Vincent Cantagrel, Jennifer L. Silhavy, Stephanie Bielas et al. · The American Journal of Human Genetics · 2008 · 395 citations · Full text

Developmental Biology, Mendelian Disorder, Joubert Syndrome +10