Grace E. VanNoy

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project

Ozge Ceyhan‐Birsoy, Jaclyn B. Murry, Kalotina Machini et al. · The American Journal of Human Genetics · 2019 · 307 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik, Gabrielle Lemire, Eva Berger et al. · New England Journal of Medicine · 2024 · 184 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

Cynthia S. Gubbels, Grace E. VanNoy, Jill A. Madden et al. · Genetics in Medicine · 2019 · 121 citations · Full text

Medicine, Genetics, Pediatrics +17

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Christel Depienne, Caroline Nava, Boris Keren et al. · Human Genetics · 2017 · 119 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim et al. · Nature · 2024 · 118 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17