Yun Li

Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

Jutta Becker, Oliver Semler, Christian Gilissen et al. · The American Journal of Human Genetics · 2011 · 354 citations · Full text

Sclerostin, Developmental Biology, Mendelian Disorder +10

Mutations in PYCR1 cause cutis laxa with progeroid features

Bruno Reversade, Nathalie Escande‐Beillard, Aikaterini Dimopoulou et al. · Nature Genetics · 2009 · 252 citations

Biology, Plant Biology, Genetics +5

A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia et al. · Human Molecular Genetics · 2013 · 227 citations · Full text

Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish

P. V. Asharani, Katharina Keupp, Oliver Semler et al. · The American Journal of Human Genetics · 2012 · 222 citations · Full text

Mechanobiology, Bone Fragility, Developmental Biology +12

Mutations in different components of FGF signaling in LADD syndrome

Edyta Rohmann, Han G. Brunner, Hülya Kayserili et al. · Nature Genetics · 2006 · 207 citations

Developmental Biology, Mendelian Disorder, Human Growth +7