Yasemin Alanay

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

Yasemin Alanay, Hrispima Avaygan, Natalia Camacho et al. · The American Journal of Human Genetics · 2010 · 319 citations · Full text

Medicine, Genetics, Molecular Genetics +9

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Audrey Putoux, Sophie Thomas, Karlien L. M. Coene et al. · Nature Genetics · 2011 · 243 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

The Evolution of Sagittal Segmental Alignment of the Spine During Childhood

Muharrem Yazici, Akin Uzumcugil, Utku Kandemir et al. · Spine · 2005 · 236 citations

Medicine, Pediatrics, Radiology +15

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

Carine Le Goff, Clémentine Mahaut, Lauren W. Wang et al. · The American Journal of Human Genetics · 2011 · 233 citations · Full text

Life Sciences, Genetics, Molecular Biology +7

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 · 228 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16