Jill A. Madden

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

Infant mortality: the contribution of genetic disorders

Monica H. Wojcik, Talia S. Schwartz, Katri Thiele et al. · Journal of Perinatology · 2019 · 79 citations

Public Health, Genetics, Pediatrics +14

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes

Klaus Schmitz‐Abe, Qifei Li, Samantha M. Rosen et al. · European Journal of Human Genetics · 2019 · 75 citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +15

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Paul C. Marcogliese, Samantha L. Deal, Jonathan C. Andrews et al. · Cell Reports · 2022 · 52 citations · Full text

Life Sciences, Bioinformatics, Genetics +16