Ahmed Abdelmoity

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

Sarah Soden, Carol Saunders, Laurel K. Willig et al. · Science Translational Medicine · 2014 · 527 citations

Neurological Disorder, Diagnosis, Disease Gene Identification +18

Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

Ana S.A. Cohen, Emily Farrow, Ahmed Abdelmoity et al. · Genetics in Medicine · 2022 · 88 citations · Full text

15q11.2 Proximal Imbalances Associated With a Diverse Array of Neuropsychiatric Disorders and Mild Dysmorphic Features

Ahmed Abdelmoity, Jean-Baptiste LePichon, Sarah S. Nyp et al. · Journal of Developmental & Behavioral Pediatrics · 2012 · 44 citations

Neuropsychology, Psychiatric Disorders, Genetics +21

<i>PCDH19</i>‐related epileptic encephalopathy in a male mosaic for a truncating variant

Isabelle Thiffault, Emily Farrow, Laurie D. Smith et al. · American Journal of Medical Genetics Part A · 2016 · 39 citations

1.39 Mb inherited interstitial deletion in 12p13.33 associated with developmental delay

Ahmed Abdelmoity, John Joshua Hall, Douglas C. Bittel et al. · European Journal of Medical Genetics · 2010 · 35 citations

Developmental Anomaly, Developmental Biology, Genetic Disorder +7