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 · 500 citations · Full text

Medicine, Oncology, Pediatrics +17

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 · 179 citations · Full text

Medicine, Maternal Health, Obstetrics +16

<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

Laura Cif, Diane Demailly, Jean‐Pierre Lin et al. · Brain · 2020 · 115 citations · Full text

Medicine, Molecular Genetics, Neurology +13

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 · 58 citations · Full text

Life Sciences, Genetics, Neuroscience +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 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16