Cynthia S. Gubbels

The adult galactosemic phenotype

Susan E. Waisbren, Nancy L. Potter, Catherine M. Gordon et al. · Journal of Inherited Metabolic Disease · 2011 · 186 citations · Full text

Life Sciences, Biology, Genetics +6

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

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris, Tojo Nakayama, Jenny Lai et al. · Genetics in Medicine · 2021 · 91 citations · Full text

Medicine, Genetics, Molecular Genetics +16

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