Concepedia

MaryAnn Weis

MW

Statistics

Publications

50

Citations

5K

H-Index

35

Active since

1992

Affiliations

University of Washington(Current)

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Baylor College of Medicine

Orthopaedic Research Laboratories

National Institutes of Health

MaryAnn Weis is an author at University of Washington specializing in medicine, genetics, and osteogenesis imperfecta.

ORCID

Publications per year

1992–2023

50

Publications

50

CRTAP Is Required for Prolyl 3- Hydroxylation and Mutations Cause Recessive Osteogenesis Imperfecta

Roy Morello, Terry Bertin, Yuqing Chen et al. · Cell · 2006 · 530 citations · Full text

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Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

Wayne A. Cabral, Weizhong Chang, Aileen M. Barnes et al. · Nature Genetics · 2007 · 483 citations · Full text

, , +10

Deficiency of Cartilage-Associated Protein in Recessive Lethal Osteogenesis Imperfecta

Aileen M. Barnes, Weizhong Chang, Roy Morello et al. · New England Journal of Medicine · 2006 · 350 citations · Full text

, , +17

HIF-1α metabolically controls collagen synthesis and modification in chondrocytes

Steve Stegen, Kjell Laperre, Guy Eelen et al. · Nature · 2019 · 310 citations · Full text

, , +12

Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13

Cecilia Giunta, Nursel Elçioğlu, Beate Albrecht et al. · The American Journal of Human Genetics · 2008 · 222 citations · Full text

, , +9

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