Tawfeg Ben‐Omran

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

Darryl C. De Vivo, Enrico Bertini, Kathryn J. Swoboda et al. · Neuromuscular Disorders · 2019 · 626 citations · Full text

Medicine, Neurology, Pediatrics +10

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki et al. · Science · 2014 · 540 citations

Life Sciences, Genetics, Neuroscience +17

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 <i>BCKD-kinase</i> Lead to a Potentially Treatable Form of Autism with Epilepsy

Gaia Novarino, Paul El-Fishawy, Hülya Kayserili et al. · Science · 2012 · 312 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria

Benjamin Nota, Eduard A. Struys, Ana Pop et al. · The American Journal of Human Genetics · 2013 · 140 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12