Andrea Petersen

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors

D. Williams Parsons, Angshumoy Roy, Yaping Yang et al. · JAMA Oncology · 2016 · 482 citations · Full text

Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory

Andrea Petersen, Sau Wai Cheung, Janice Smith et al. · American Journal of Obstetrics and Gynecology · 2017 · 177 citations · Full text

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

Caroline Dias, Jaya Punetha, Céline Zheng et al. · The American Journal of Human Genetics · 2019 · 57 citations · Full text

Brain Development, Exome Sequencing, Synaptic Transmission +17

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

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Dong Li, Qin Wang, Allan Bayat et al. · Journal of Clinical Investigation · 2023 · 41 citations · Full text