Dimitra Micha

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

Ingrid M.B.H. van de Laar, Rogier A. Oldenburg, Gerard Pals et al. · Nature Genetics · 2011 · 674 citations

Medicine, Cardiology, Molecular Genetics +11

<i>PLS3</i> Mutations in X-Linked Osteoporosis with Fractures

Fleur S. van Dijk, M. Carola Zillikens, Dimitra Micha et al. · New England Journal of Medicine · 2013 · 200 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia

Alexandros Onoufriadis, Tamara Paff, Dinu Antony et al. · The American Journal of Human Genetics · 2012 · 194 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Beneficial Outcome of Losartan Therapy Depends on Type of <i>FBN1</i> Mutation in Marfan Syndrome

Romy Franken, Alexander W. den Hartog, Teodora Radonic et al. · Circulation Cardiovascular Genetics · 2015 · 165 citations · Full text

Medicine, Cardiology, Genetics +15

Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

Tamara Paff, Niki T. Loges, Isabella Aprea et al. · The American Journal of Human Genetics · 2016 · 158 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15