Concepedia
Statistics
Publications
8
Citations
707
H-Index
Active since
2016
Affiliations
National Human Genome Research Institute(Current)
Columbia University
National Institutes of Health
Duke University
Texas Children's Hospital
Mary E. Hackbarth is an author at National Human Genome Research Institute specializing in medicine, molecular genetics, and genetics.
Publications per year
2016–2021
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
Rachel Ramoni, John J. Mulvihill, David R. Adams et al. · The American Journal of Human Genetics · 2017 · 188 citations · Full text
Public Health, Biomedical Informatics, Health Informatics +13
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
Hsiao‐Tuan Chao, Mariska Davids, Elizabeth A. Burke et al. · The American Journal of Human Genetics · 2016 · 121 citations · Full text
Medicine, Genetics, Molecular Genetics +14
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification
Elena‐Raluca Nicoli, Mary Weston, Mary E. Hackbarth et al. · The American Journal of Human Genetics · 2019 · 97 citations · Full text
Life Sciences, Biochemistry, Cell Biology +12
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)
Carlos R. Ferreira, Mary E. Hackbarth, Shira G. Ziegler et al. · Genetics in Medicine · 2020 · 88 citations · Full text
Medicine, Child Health, Pediatrics +12
Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies
Carlos R. Ferreira, Kristina Kintzinger, Mary E. Hackbarth et al. · Journal of Bone and Mineral Research · 2021 · 73 citations · Full text
Medicine, Endocrinology, Pediatrics +17
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