Víctor L. Ruiz‐Pérez

A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome

Mark O’Driscoll, Víctor L. Ruiz‐Pérez, C. Geoffrey Woods et al. · Nature Genetics · 2003 · 774 citations

Rare Diseases, Genetic Disorder, Medicine +8

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

Anavaj Sakuntabhai, Víctor L. Ruiz‐Pérez, Simon Carter et al. · Nature Genetics · 1999 · 727 citations

Signal Transduction, Genetic Disorder, Genetics +6

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 · 350 citations

Developmental Anomaly, Mendelian Disorder, Genetic Disorder +7

A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis

Alison Ross, Víctor L. Ruiz‐Pérez, Yiming Wang et al. · Nature Genetics · 1998 · 289 citations

Biology, Developmental Biology, Genetic Disorder +10

Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta

Pablo Lapunzina, Mona Aglan, Samia A. Temtamy et al. · The American Journal of Human Genetics · 2010 · 283 citations · Full text

Bone Disease, Recessive Osteogenesis Imperfecta, Developmental Biology +7