Nicholas Stong

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study

Slavé Petrovski, Vimla S. Aggarwal, Jessica L. Giordano et al. · The Lancet · 2019 · 590 citations

Developmental Anomaly, Sequencing, Whole-exome Sequencing +12

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

Julia Wang, Rami Al‐Ouran, Yanhui Hu et al. · The American Journal of Human Genetics · 2017 · 217 citations · Full text

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Rachel Ramoni, John J. Mulvihill, David R. Adams et al. · The American Journal of Human Genetics · 2017 · 181 citations · Full text

Disease Diagnosis, Network Science, Health Informatics +12

Loss of tubulin deglutamylase <scp>CCP</scp> 1 causes infantile‐onset neurodegeneration

Vandana Shashi, Maria M. Magiera, Dennis Klein et al. · The EMBO Journal · 2018 · 122 citations · Full text

Neurodegenerative Diseases, Neurobiology Of Disease, Molecular Neuroscience +7

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

Hsiao‐Tuan Chao, Mariska Davids, Elizabeth A. Burke et al. · The American Journal of Human Genetics · 2016 · 118 citations · Full text

Neurodevelopmental Disorders, Developmental Anomaly, Developmental Biology +11