Víctor L. Ruiz‐Pérez

Author

Also Known As

Eva Bermejo‐Sánchez, M Cris, V L Ruiz-Perez, V. L. Ruiz-Perez, V. L. Ruiz-Pérez, V. Pérez, V. Ruiz-Perez, V.L. Ruiz-Perez, V.L. Ruiz‐Perez, V.L. Ruiz‐Pérez

Publications

5.8K

Citations

H-Index

Concepts

All Affiliations

Universidad Autónoma de Madrid Centre for Biomedical Network Research on Rare Diseases Hospital Universitario La Paz Instituto de Salud Carlos III Consejo Superior de Investigaciones Científicas

About

Víctor L. Ruiz‐Pérez is an author at Universidad Autónoma de Madrid specializing in medicine, genetics, and developmental biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	29	34	4.6K
2	Biology	5	5	425
3	Natural Sciences	4	4	144
4	Allergy	1	1	50
5	Biochemistry	1	1	73

Víctor L. Ruiz‐Pérez

Publications

5.5K

Citations

H-Index

Page 1

	Year	Citations
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, Nature Genetics Rare DiseasesGenetic DisorderMedicineGeneticsSeckel Syndrome	2003	774
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease Anavaj Sakuntabhai, Víctor L. Ruiz‐Pérez, Simon Carter, Nature Genetics Signal TransductionGenetic DisorderGeneticsCause Darier DiseaseMolecular Biology	1999	727
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis Víctor L. Ruiz‐Pérez, Susan Ide, Tim M. Strom, Nature Genetics Developmental AnomalyMendelian DisorderGenetic DisorderGeneticsNew Gene	2000	350
A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis Alison Ross, Víctor L. Ruiz‐Pérez, Yiming Wang, Nature Genetics BiologyDevelopmental BiologyGenetic DisorderGeneticsMajor Locus	1998	289
Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta Pablo Lapunzina, Mona Aglan, Samia A. Temtamy, The American Journal of Human Genetics Bone DiseaseRecessive Osteogenesis ImperfectaDevelopmental BiologyOsteopathyGenetics	2010	283
Mutations in WNT1 Cause Different Forms of Bone Fragility Katharina Keupp, Filippo Beleggia, Hülya Kayserili, The American Journal of Human Genetics Bone DiseaseBone FragilityBone Morphogenic ProteinGeneticsBone Homeostasis	2013	277
Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome Víctor L. Ruiz‐Pérez, Stuart W. Tompson, J. Helen Blair, The American Journal of Human Genetics Developmental BiologyGenetic DisorderMedicineGeneticsCraniofacial Development	2003	229
Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta Víctor Martínez‐Glez, José A. Caparrós‐Martín, Mona Aglan, Human Mutation SclerostinGeneticsBone RepairNormal MtldOsteogenesis	2011	213
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, M. Elena Rodriguez-Andres, Development PathologyOrthopaedic SurgeryMusculoskeletal ResearchEmbryologyEvc-like Syndrome	2007	189
ATP2A2 Mutations in Darier's Disease: Variant Cutaneous Phenotypes Are Associated with Missense Mutations, But Neuropsychiatry Features Are Independent of Mutation Class Víctor L. Ruiz‐Pérez, S. A. Carter, Eugene Healy, Human Molecular Genetics	1999	142

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