Concepedia

Melanie Pepin

MP

33

Publications

6K

Citations

28

H-Index

1983

Active since

Affiliations

University of Washington(Current)

University of Washington Medical Center

Baylor College of Medicine

University of California, Los Angeles

Oregon Health & Science University

Melanie Pepin is an author at University of Washington specializing in medicine, genetics, and osteogenesis.

Top concepts

Publications per year

1983–2019

33

Publications

33

The 2017 international classification of the Ehlers–Danlos syndromes

Fransiska Malfait, Clair A. Francomano, Peter H. Byers et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2017 · 1.8K citations · Full text

Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type

Melanie Pepin, Ulrike Schwarze, Andrea Superti‐Furga et al. · New England Journal of Medicine · 2000 · 1.3K citations · Full text

Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta

Helena E. Christiansen, Ulrike Schwarze, Shawna M. Pyott et al. · The American Journal of Human Genetics · 2010 · 354 citations · Full text

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Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV)

Melanie Pepin, Ulrike Schwarze, Kenneth Rice et al. · Genetics in Medicine · 2014 · 291 citations · Full text

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<i>CRTAP</i>and<i>LEPRE1</i>mutations in recessive osteogenesis imperfecta

Dustin Baldridge, Ulrike Schwarze, Roy Morello et al. · Human Mutation · 2008 · 207 citations · Full text

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