Britton Zuccarelli

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

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

Dianalee McKnight, Ana Morales, Kathryn E. Hatchell et al. · JAMA Neurology · 2022 · 87 citations · Full text

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

Caroline F. Wright, Nicholas M. Quaife, Laura Ramos-Hernández et al. · The American Journal of Human Genetics · 2021 · 74 citations · Full text

Distinct Loss-of-function Mechanisms, Molecular Neuroscience, Developmental Biology +6

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Joery den Hoed, Elke de Boer, Norine Voisin et al. · The American Journal of Human Genetics · 2021 · 54 citations · Full text

Neurodevelopmental Disorders, Different Neurodevelopmental Disorders, Neurodegenerative Diseases +15

An overview of combined D‐2‐ and L‐2‐hydroxyglutaric aciduria: functional analysis of CIC variants

Ana Pop, Monique Williams, Eduard A. Struys et al. · Journal of Inherited Metabolic Disease · 2017 · 35 citations · Full text