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JM

Joan Marini

Medical Genetics / Clinical Genetics (M.D.)

Credentials: · ·

History

Johns Hopkins Univ Sch of Med
1974–1978

Research

Osteogenesis imperfecta
Review · Nature Reviews Disease Primers · 2017 · First of 12 authors · 616 citations
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and…
Review · Human Mutation · 2007 · First of 27 authors · Corresponding · 566 citations
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta
Case report · Nature Genetics · 2007 · Last of 15 authors · 323 citations

Michelle Caird
9 papers
SJ
Smita Jha
7 papers
TB
Timothy Bhattacharyya
7 papers
RS
Richard Siegel
6 papers
AD
Alberta Derkyi
5 papers
Dorothy Grange
5 papers · 4 as a fellow
EC
Edward Cowen
5 papers
JR
James Reynolds
5 papers
MZ
Michael Zasloff
5 papers
SG
Steve Goldstein
5 papers
SH
Suvimol Hill
5 papers
Gary Gottesman
4 papers · 3 as a resident