Concepedia

Rebecca Mardach

RM

Statistics

Publications

15

Citations

648

H-Index

12

Active since

1997

Affiliations

Kaiser Permanente(Current)

University of California, Los Angeles

Rady Children's Hospital-San Diego

University of Utah

Illumina (United States)

Rebecca Mardach is an author at Kaiser Permanente specializing in life sciences, genetics, and molecular genetics.

Publications per year

1997–2024

15

Publications

15

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 · 99 citations

, , +7

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

, , +9

Biotin dependency due to a defect in biotin transport

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

, , +13

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 · 73 citations · Full text

, , +17

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 · 72 citations · Full text

, , +14

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