Omar Sherbini

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi et al. · The American Journal of Human Genetics · 2021 · 80 citations · Full text

Down Syndrome, Deletion Syndrome, Developmental Biology +11

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

Laura Adang, Omar Sherbini, Laura J. Ball et al. · Molecular Genetics and Metabolism · 2017 · 71 citations · Full text

Medicine, Rheumatology, Symptomatic Care +1

Aicardi goutières syndrome is associated with pulmonary hypertension

Laura Adang, David B. Frank, Ahmed Gilani et al. · Molecular Genetics and Metabolism · 2018 · 51 citations · Full text

Hypertension, Heart Failure, Pulmonary Arterial Hypertension +9

Phenotypic and Imaging Spectrum Associated With WDR45

Laura Adang, Amy Pizzino, Alka Malhotra et al. · Pediatric Neurology · 2020 · 42 citations · Full text

Medicine, Genetics, Pathology +4

Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry

Xinying Hong, Arun Kumar, Jessica Daiker et al. · Analytical Chemistry · 2020 · 36 citations · Full text