Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis–van Creveld syndrome patients

Recommendations for a nomenclature system for human gene mutations

Stylianos E. Antonarakis · Human Mutation · 1998 · 939 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Digenic Retinitis Pigmentosa Due to Mutations at the Unlinked Peripherin/ <i>RDS</i> and <i>ROM1</i> Loci

Kazuto Kajiwara, Eliot L. Berson, Thaddeus P. Dryja · Science · 1994 · 785 citations

Life Sciences, Genetics, Molecular Genetics +14

Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder

Nicholas Katsanis, Stephen J. Ansley, José L. Badano et al. · Science · 2001 · 655 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

Víctor L. Ruiz‐Pérez, Susan Ide, Tim M. Strom et al. · Nature Genetics · 2000 · 356 citations

Life Sciences, Genetics, Molecular Genetics +4

A Syndrome Characterized by Ectodermal Dysplasia, Polydactyly, Chondro-Dysplasia and Congenital Morbus Cordis: Report of Three Cases

R. W. B. Ellis, S. Van Creveld · Archives of Disease in Childhood · 1940 · 345 citations · Full text

Medicine, Pediatrics, Genodermatoses +6