Rebecca Hernan

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders

Hongjian Qi, Lan Yu, Xueya Zhou et al. · PLoS Genetics · 2018 · 122 citations · Full text

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

Alban Ziegler, Carrie Koval‐Burt, Denise M. Kay et al. · JAMA · 2024 · 78 citations · Full text

A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion

Guoliang Chai, Emmanuelle Szenker‐Ravi, Changuk Chung et al. · New England Journal of Medicine · 2021 · 44 citations · Full text

Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene

Lu Qiao, Le Xu, Lan Yu et al. · The American Journal of Human Genetics · 2021 · 42 citations · Full text

Candidate Risk Gene, Allelic Variant, Developmental Biology +10

Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures

Shenzhao Lu, Rebecca Hernan, Paul C. Marcogliese et al. · The American Journal of Human Genetics · 2022 · 39 citations · Full text

Neurodevelopmental Disorders, Genetic Disorder, Genetics +11