Fulya Taylan

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Catherine A. Brownstein, Alan H. Beggs, Nils Homer et al. · Genome biology · 2014 · 432 citations · Full text

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of Complement

Ines Kapferer‐Seebacher, Melanie Pepin, Roland Werner et al. · The American Journal of Human Genetics · 2016 · 116 citations · Full text

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

Giedré Grigelioniené, Hiroshi Suzuki, Fulya Taylan et al. · Nature Medicine · 2019 · 101 citations · Full text

Developmental Biology, Human Skeletal Dysplasia, Genetics +7

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

Carlos R. Ferreira, Zhi‐Jie Xia, Aurélie Clément et al. · The American Journal of Human Genetics · 2018 · 71 citations · Full text

Signal Transduction, Glycosylation, Altered Proteoglycan Glycosylation +11

Different mutations in <i>PDE4D</i> associated with developmental disorders with mirror phenotypes

Anna Lindstrand, Giedré Grigelioniené, Daniel Nilsson et al. · Journal of Medical Genetics · 2013 · 64 citations