Rebecca Mardach

Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy

Rebecca Mardach, M. Anthony Verity, Stephen D. Cederbaum · Molecular Genetics and Metabolism · 2005 · 97 citations

Cardiomyopathy, Heart Failure, Cardiogenic Shock +8

Isolated Isobutyryl-CoA Dehydrogenase Deficiency: An Unrecognized Defect in Human Valine Metabolism

Charles R. Roe, Stephen D. Cederbaum, Diane S. Roe et al. · Molecular Genetics and Metabolism · 1998 · 78 citations

Unrecognized Defect, Aldehyde Dehydrogenase, Biochemistry +11

Biotin dependency due to a defect in biotin transport

Rebecca Mardach, Janos Zempleni, Barry Wolf et al. · Journal of Clinical Investigation · 2002 · 75 citations

Biochemistry, Biotin Dependency, Biotin Withdrawal +12

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

Mallory Owen, Sébastien Lefebvre, Christian Holm Hansen et al. · Nature Communications · 2022 · 70 citations · Full text

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Sarah E. Sheppard, Ian M. Campbell, Margaret Harr et al. · American Journal of Medical Genetics Part A · 2021 · 66 citations · Full text