Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

Maximilian Muenke, Karen W. Gripp, Donna M. McDonald‐McGinn et al. · PubMed · 1997 · 394 citations

Dentistry, Genetics, Molecular Genetics +16

A population‐based study of craniosynostosis in metropolitan Atlanta, 1989–2003

Sheree L. Boulet, Sonja A. Rasmussen, Margaret A. Honein · American Journal of Medical Genetics Part A · 2008 · 363 citations

Medicine, Child Health, Pediatrics +16

Mutations of ephrin-B1 ( <i>EFNB1</i> ), a marker of tissue boundary formation, cause craniofrontonasal syndrome

Stephen R.F. Twigg, Rui Kan, Christian Babbs et al. · Proceedings of the National Academy of Sciences · 2004 · 340 citations · Full text

Dentistry, Genetics, Molecular Genetics +17

Prevalence and Complications of Single-Gene and Chromosomal Disorders in Craniosynostosis

Andrew O.M. Wilkie, Jo C. Byren, Jane A. Hurst et al. · PEDIATRICS · 2010 · 287 citations · Full text

Medicine, Genetics, Molecular Genetics +17

De Novo Alu-Element Insertions in FGFR2 Identify a Distinct Pathological Basis for Apert Syndrome

Michael Oldridge, Elaine H. Zackai, Donna M. McDonald‐McGinn et al. · The American Journal of Human Genetics · 1999 · 252 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6