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Víctor L. Ruiz‐Pérez | Researchclopedia

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Víctor L. Ruiz‐Pérez

Consejo Superior de Investigaciones Científicas ORCID

95

Works

5,844

Citations

39

h-index

57

i10-index

Research Topics

Hedgehog Signaling Pathway Studies Genetic and Kidney Cyst Diseases Connective tissue disorders research

Affiliations

European Organisation for Rare Diseases2021–2021

Cleveland Clinic2005–2005

Consejo Superior de Investigaciones Científicas2006–2025

University of Miami2014–2014

Hospital Universitario La Paz2013–2025

Top Works

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

Mark O’Driscoll,Víctor L. Ruiz‐Pérez,et al.

2003775 citations

Genetic Syndromes and Imprinting

Bone and Dental Protein Studies

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

Anavaj Sakuntabhai,Víctor L. Ruiz‐Pérez,et al.

1999729 citations

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

Víctor L. Ruiz‐Pérez,Susan Ide,et al.

2000353 citations

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

Alison Ross,Víctor L. Ruiz‐Pérez,et al.

1998291 citations

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

Pablo Lapunzina,Mona Aglan,et al.

2010287 citations

Mutations in WNT1 Cause Different Forms of Bone Fragility

Katharina Keupp,Filippo Beleggia,et al.

2013281 citations

Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome

Víctor L. Ruiz‐Pérez,Stuart W. Tompson,et al.

2003229 citations

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

Víctor Martínez‐Glez,Eulalia Valencia,et al.

2011215 citations

Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia

Víctor L. Ruiz‐Pérez,Helen J. Blair,et al.

2007190 citations