Monica H. Wojcik

Monogenic variants in dystonia: an exome-wide sequencing study

Michael Zech, Robert Jech, Sylvia Boesch et al. · The Lancet Neurology · 2020 · 206 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +3

Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik, Gabrielle Lemire, Eva Berger et al. · New England Journal of Medicine · 2024 · 144 citations · Full text

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 · 118 citations · Full text

Phenotype-driven Selection, Newborn Screening, Sequencing +13

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

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim et al. · Nature · 2024 · 93 citations · Full text

Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities

Monica H. Wojcik, Talia S. Schwartz, Inbar Yamin et al. · Genetics in Medicine · 2018 · 83 citations · Full text

Clinical Genetic Disorders, Early Life Exposure, Genetic Disorder +8