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PUBLICACIONES

 

 

spacerTrabajos Publicados por Víctor Luis Ruiz Pérez
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  1. Tenorio-Castano, J.; Mansilla Aparicio, E.; García Santiago, F.A.; Klotz, C.M.; Regojo, R.M.; Anguita, E.; Ryan, E.; Juusola, J.; Herrero, B.; Arias, P.; Parra, A.; Pascual, P.; Gallego, N.; Cazalla, M.; Rodriguez-González, R.; Antolín, E.; Nevado, J.; Ruiz-Perez, V.L.; Lapunzina, P. "Non-immune hydrops fetalis is associated with bi-allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene.". Clin Genet. (): . (2024). (PMID: 39191491).
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  2. Altunoglu, U.; Palencia-Campos, A.; Güneş, N.; Turgut, G.T.; Nevado, J.; Lapunzina, P.; Valencia, M.; Iturrate, A.; Otaify, G.; Elhossini, R.; Ashour, A.; K Amin, A.; Elnahas, R.F.; Fernandez-Nuñez, E.; Flores, C.L.; Arias, P.; Tenorio, J.; Chamorro Fernández, C.I.; Güven, Y.; Özsu, E.; Eklioğlu, B.S.; Ibarra-Ramirez, M.; Diness, B.R.; Burnyte, B.; Ajmi, H.; Yüksel, Z.; Yıldırım, R.; Ünal, E.; Abdalla, E.; Aglan, M.; Kayserili, H.; Tuysuz, B.; Ruiz-Pérez, V. "Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.". J Med Genet. (): . (2024). (PMID: 38531627).
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  3. Barbeito, P.; Martin-Morales, R.; Palencia-Campos, A.; Cerrolaza, J.; Rivas-Santos, C.; Gallego-Colastra, L.; Caparros-Martin, J.A.; Martin-Bravo, C.; Martin-Hurtado, A.; Sánchez-Bellver, L.; Marfany, G.; Ruiz-Perez, V.L.; Garcia-Gonzalo, F.R. "EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.". Front Cell Dev Biol. 11(): 1190258. (2023). (PMID: 37576597).
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  4. Piceci-Sparascio, F.; Micale, L.; Torres, B.; Guida, V.; Consoli, F.; Torrente, I.; Onori, A.; Frustaci, E.; D'Asdia, M.C.; Petrizzelli, F.; Bernardini, L.; Mancini, C.; Soli, F.; Cocciadiferro, D.; Guadagnolo, D.; Mastromoro, G.; Putotto, C.; Fontana, F.; Brunetti-Pierri, N.; Novelli, A.; Pizzuti, A.; Marino, B.; Digilio, M.C.; Mazza, T.; Dallapiccola, B.; Ruiz-Perez, V.L.; Tartaglia, M.; Castori, M.; De Luca, A. "Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.". Eur J Hum Genet. (): . (2023). (PMID: 36599940).
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  5. Maroofian, R.; Efthymiou, S.; Suri, M.; Rahman, F.; Zaki, M.S.; Maqbool, S.; Anwa, N.; Ruiz-Pérez, V.L.; Yanovsky-Dagan, S.; Elpeleg, O.; Sudhakar, S.; Mankad, K.; Harel, T.; Houlden, H. "Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder.". J Med Genet. (): . (2022). (PMID: 36581449).
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  6. Álvarez, L.F.G.; Tenorio-Castaño, J.; Poletta, F.A.; Santos-Simarro, F.; Arias, P.; Gallego, N.; Orioli, I.M.; Mundlos, S.; Castilla, E.E.; Martínez-Glez, V.; Martínez-Frías, M.L.; Ruiz-Pérez, V.L.; Nevado, J.; Lapunzina, P. "A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies.". Am J Med Genet A. (): . (2022). (PMID: 36308343).
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  7. Happ, J.T.; Arveseth, C.D.; Bruystens, J.; Bertinetti, D.; Nelson, I.B.; Olivieri, C.; Zhang, J.; Hedeen, D.S.; Zhu, J.F.; Capener, J.L.; Bröckel, J.W.; Vu, L.; King, C.C.; Ruiz-Perez, V.L.; Ge, X.; Veglia, G.; Herberg, F.W.; Taylor, S.S.; Myers, B.R. "A PKA inhibitor motif within SMOOTHENED controls Hedgehog signal transduction.". Nat Struct Mol Biol. (): . (2022). (PMID: 36202993).
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  8. Cospain, A.; Rivera-Barahona, A.; Dumontet, E.; Gener, B.; Bailleul-Forestier, I.; Meyts, I.; Jouret, G.; Isidor, B.; Brewer, C.; Wuyts, W.; Moens, L.; Delafontaine, S.; Keung Lam, W.W.; Van Den Bogaert, K.; Boogaerts, A.; Scalais, E.; Besnard, T.; Cogne, B.; Guissard, C.; Rollier, P.; Carre, W.; Bouvet, R.; Tarte, K.; Gómez-Carmona, R.; Lapunzina, P.; Odent, S.; Faoucher, M.; Dubourg, C.; Ruiz-Pérez, V.L.; Devriendt, K.; Pasquier, L.; Pérez-Jurado, L.A. "FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.". Genet Med. (): . (2022). (PMID: 36197437).
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  9. Iturrate, A.; Rivera-Barahona, A.; Flores, C.L.; Otaify, G.A.; Elhossini, R.; Perez-Sanz, M.L.; Nevado, J.; Tenorio-Castano, J.; Triviño, J.C.; Garcia-Gonzalo, F.R.; Piceci-Sparascio, F.; De Luca, A.; Martínez, L.; Kalaycı, T.; Lapunzina, P.; Altunoglu, U.; Aglan, M.; Abdalla, E.; Ruiz-Perez, V.L. "Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia.". Am J Hum Genet. (): . (2022). (PMID: 36084634).
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  10. Lamuedra, A.; Gratal, P.; Calatrava, L.; Ruiz-Perez, V.L.; Palencia-Campos, A.; Portal-Núñez, S.; Mediero, A.; Herrero-Beaumont, G.; Largo, R. "Blocking chondrocyte hypertrophy in conditional Evc knockout mice does not modify cartilage damage in osteoarthritis.". FASEB J. 36(4): e22258. (2022). (PMID: 35334131).
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  11. Kague, E.; Turci, F.; Newman, E.; Yang, Y.; Brown, K.R.; Aglan, M.S.; Otaify, G.A.; Temtamy, S.A.; Ruiz-Perez, V.L.; Cross, S.; Royall, C.P.; Witten, P.E.; Hammond, C.L. "3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease.". Bone Res. 9(1): 39. (2021). (PMID: 34465741).
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  12. Lapunzina, P.; Tenorio-Castaño, J.; Nevado, J.; Campos Barros, Á.; Pachajoa, H.; Ruiz-Pérez, V.L.; Castilla, E.E. "The portrayal of dwarfism without skeletal dysplasia in art: Proportionate short stature due to growth hormone deficiency and other disorders.". Am J Med Genet C Semin Med Genet. (): . (2021). (PMID: 33998134).
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  13. Horn, D.; Fernández-Núñez, E.; Gomez-Carmona, R.; Rivera-Barahona, A.; Nevado, J.; Schwartzmann, S.; Ehmke, N.; Lapunzina, P.; Otaify, G.A.; Temtamy, S.; Aglan, M.; Boschann, F.; Ruiz-Perez, V.L. "Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly.". Genet Med. (): . (2021). (PMID: 33442026).
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  14. Palencia-Campos, A.; Aoto, P.C.; Machal, E.M.F.; Rivera-Barahona, A.; Soto-Bielicka, P.; Bertinetti, D.; Baker, B.; Vu, L.; Piceci-Sparascio, F.; Torrente, I.; Boudin, E.; Peeters, S.; Van Hul, W.; Huber, C.; Bonneau, D.; Hildebrand, M.S.; Coleman, M.; Bahlo, M.; Bennett, M.F.; Schneider, A.L.; Scheffer, I.E.; Kibæk, M.; Kristiansen, B.S.; Issa, M.Y.; Mehrez, M.I.; Ismail, S.; Tenorio, J.; Li, G.; Skålhegg, B.S.; Otaify, G.A.; Temtamy, S.; Aglan, M.; Jønch, A.E.; De Luca, A.; Mortier, G.; Cormier-Daire, V.; Ziegler, A.; Wallis, M.; Lapunzina, P.; Herberg, F.W.; Taylor, S.S.; Ruiz-Perez, V.L. "Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.". Am J Hum Genet. (): . (2020). (PMID: 33058759).
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  15. van Dijk, F.S.; Semler, O.; Etich, J.; Köhler, A.; Jimenez-Estrada, J.A.; Bravenboer, N.; Claeys, L.; Riesebos, E.; Gegic, S.; Piersma, S.R.; Jimenez, C.R.; Waisfisz, Q.; Flores, C.L.; Nevado, J.; Harsevoort, A.J.; Janus, G.J.M.; Franken, A.A.M.; van der Sar, A.M.; Meijers-Heijboer, H.; Heath, K.E.; Lapunzina, P.; Nikkels, P.G.J.; Santen, G.W.E.; Nüchel, J.; Plomann, M.; Wagener, R.; Rehberg, M.; Hoyer-Kuhn, H.; Eekhoff, E.M.W.; Pals, G.; Mörgelin, M.; Newstead, S.; Wilson, B.T.; Ruiz-Perez, V.L.; Maugeri, A.; Netzer, C.; Zaucke, F.; Micha, D. "Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.". Am J Hum Genet. (): . (2020). (PMID: 33053334).
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  16. Piceci-Sparascio, F.; Palencia-Campos, A.; Soto-Bielicka, P.; Danzi, A.; Guida, V.; Rosati, J.; Caparros-Martin, J.A.; Torrente, I.; Cecilia D'Asdia, M.; Versacci, P.; Briuglia, S.; Lapunzina, P.; Tartaglia, M.; Marino, B.; Digilio, M.C.; Ruiz-Perez, V.L.; De Luca, A. "Common atrium/atrioventricular canal defect and postaxial polydactyly: a mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.". Hum. Mutat.. (): . (2020). (PMID: 32906221).
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  17. Martínez-Glez, V.; Tenorio, J.; Nevado, J.; Gordo, G.; Rodríguez-Laguna, L.; Feito, M.; de Lucas, R.; Pérez-Jurado, L.A.; Ruiz Pérez, V.L.; Torrelo, A.; Spinner, N.B.; Happle, R.; Biesecker, L.G.; Lapunzina, P. "A six-attribute classification of genetic mosaicism.". Genet. Med.. (): . (2020). (PMID: 32661356).
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  18. Lamuedra, A.; Gratal, P.; Calatrava, L.; Ruiz-Perez, V.L.; Largo, R.; Herrero-Beaumont, G. "Disorganization of chondrocyte columns in the growth plate does not aggravate experimental osteoarthritis in mice.". Sci Rep. 10(1): 10745. (2020). (PMID: 32612184).
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  19. Tenorio, J.; Alarcón, P.; Arias, P.; Dapía, I.; García-Miñaur, S.; Palomares Bralo, M.; Campistol, J.; Climent, S.; Valenzuela, I.; Ramos, S.; Monseny, A.M.; Grondona, F.L.; Botet, J.; Serrano, M.; Solís, M.; Santos-Simarro, F.; Álvarez, S.; Teixidó-Tura, G.; Fernández Jaén, A.; Gordo, G.; Bardón Rivera, M.B.; Nevado, J.; Hernández, A.; Cigudosa, J.C.; Ruiz-Pérez, V.L.; Tizzano, E.F.; , .; Lapunzina, P. "Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.". Eur. J. Hum. Genet.. (): . (2019). (PMID: 31685998).
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  20. Palencia-Campos, A.; Martínez-Fernández, M.L.; Altunoglu, U.; Soto-Bielicka, P.; Torres, A.; Marín, P.; Aller, E.; Şentürk, L.; Berköz, Ö.; Yıldıran, M.; Kayserili, H.; Gil-Camarero, E.; Colli-Lista, G.; Sanchís-Calvo, A.; Carretero, A.; , .; Guillén-Navarro, E.; López-González, V.; Ballesta-Martínez, M.; Rosell, J.; Aglan, M.S.; Temtamy, S.; Otaify, G.A.; Cuevas-Catalina, L.; Torres-Saavedra, M.N.; Nevado, J.; Tenorio, J.; Lapunzina, P.; Bermejo-Sánchez, E.; Ruiz-Pérez, V.L. "Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.". Hum. Mutat.. (): . (2019). (PMID: 31549748).
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  21. Estañ, M.C.; Fernández-Núñez, E.; Zaki, M.S.; Esteban, M.I.; Donkervoort, S.; Hawkins, C.; Caparros-Martin, J.A.; Saade, D.; Hu, Y.; Bolduc, V.; Chao, K.R.; Nevado, J.; Lamuedra, A.; Largo, R.; Herrero-Beaumont, G.; Regadera, J.; Hernandez-Chico, C.; Tizzano, E.F.; Martinez-Glez, V.; Carvajal, J.J.; Zong, R.; Nelson, D.L.; Otaify, G.A.; Temtamy, S.; Aglan, M.; Issa, M.; Bönnemann, C.G.; Lapunzina, P.; Yoon, G.; Ruiz-Perez, V.L. "Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.". Nat Commun. 10(1): 797. (2019). (PMID: 30770808).
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  22. Tenorio, J.; Alarcón, P.; Arias, P.; Ramos, F.J.; Campistol, J.; Climent, S.; García-Miñaur, S.; Dapia, I.; Hernández, A.; Nevado, J.; Solís, M.; Ruiz Pérez, V.L.; Consortium, T.S.O.G.R.I.; Lapunzina, P. "MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.". Clin. Genet.. (): . (2019). (PMID: 30628072).
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  23. Rodriguez-Laguna, L.; Ibañez, K.; Gordo, G.; Garcia-Minaur, S.; Santos-Simarro, F.; Agra, N.; Vallespín, E.; Fernández-Montaño, V.E.; Martín-Arenas, R.; Del Pozo, Á.; González-Pecellín, H.; Mena, R.; Rueda-Arenas, I.; Gomez, M.V.; Villaverde, C.; Bustamante, A.; Ayuso, C.; Ruiz-Perez, V.L.; Nevado, J.; Lapunzina, P.; Lopez-Gutierrez, J.C.; Martinez-Glez, V. "CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.". Genet. Med.. 20(8): 882-889. (2018). (PMID: 29446767).
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  24. Doyard, M.; Bacrot, S.; Huber, C.; Di Rocco, M.; Goldenberg, A.; Aglan, M.S.; Brunelle, P.; Temtamy, S.; Michot, C.; Otaify, G.A.; Haudry, C.; Castanet, M.; Leroux, J.; Bonnefont, J.P.; Munnich, A.; Baujat, G.; Lapunzina, P.; Monnot, S.; Ruiz-Perez, V.L.; Cormier-Daire, V. "FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.". J. Med. Genet.. 55(4): 278-284. (2018). (PMID: 29358272).
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  25. Ibarra-Ramirez, M.; Campos-Acevedo, L.D.; Lugo-Trampe, J.; Martínez-Garza, L.E.; Martinez-Glez, V.; Valencia-Benitez, M.; Lapunzina, P.; Ruiz-Peréz, V. "Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome.". Am J Case Rep. 18(): 1325-1329. (2017). (PMID: 29229899).
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  26. Gordo, G.; Tenorio, J.; Arias, P.; Santos-Simarro, F.; García-Miñaur, S.; Moreno, J.C.; Nevado, J.; Vallespin, E.; Rodriguez-Laguna, L.; de Mena, R.; Dapia, I.; Palomares, M.; Del Pozo, Á.; Ibañez, K.; Silla, J.C.; Barroso, E.; Ruiz Pérez, V.L.; Martinez-Glez, V.; Lapunzina, P. "mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review.". Clin. Genet.. (): . (2017). (PMID: 28892148).
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  27. Niceta, M.; Margiotti, K.; Digilio, M.C.; Guida, V.; Bruselles, A.; Pizzi, S.; Ferraris, A.; Memo, L.; Laforgia, N.; Dentici, M.L.; Consoli, F.; Torrente, I.; Ruiz-Perez, V.L.; Dallapiccola, B.; Marino, B.; De Luca, A.; Tartaglia, M. "Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.". Clin. Genet.. (): . (2017). (PMID: 28857138).
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  28. Palencia-Campos, A.; Ullah, A.; Nevado, J.; Yildirim, R.; Unal, E.; Ciorraga, M.; Barruz, P.; Chico, L.; Piceci-Sparascio, F.; Guida, V.; De Luca, A.; Kayserili, H.; Ullah, I.; Burmeister, M.; Lapunzina, P.; Ahmad, W.; Morales, A.; Ruiz-Perez, V.L. "GLI1 Inactivation is associated with Developmental Phenotypes Overlapping with Ellis-Van Creveld Syndrome.". Hum. Mol. Genet.. (): . (2017). (PMID: 28973407).
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  29. Tenorio, J.; Álvarez, I.; Riancho-Zarrabeitia, L.; Martos-Moreno, G.Á.; Mandrile, G.; de la Flor Crespo, M.; Sukchev, M.; Sherif, M.; Kramer, I.; Darnaude-Ortiz, M.T.; Arias, P.; Gordo, G.; Dapía, I.; Martinez-Villanueva, J.; Gómez, R.; Iturzaeta, J.M.; Otaify, G.; García-Unzueta, M.; Rubinacci, A.; Riancho, J.A.; Aglan, M.; Temtamy, S.; Hamid, M.A.; Argente, J.; Ruiz-Pérez, V.L.; Heath, K.E.; Lapunzina, P. "Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of hypophosphatasia.". Am. J. Med. Genet. A. (): . (2017). (PMID: 28127875).
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  30. Caparros-Martin, J.A.; Aglan, M.S.; Temtamy, S.; Otaify, G.A.; Valencia, M.; Nevado, J.; Vallespin, E.; Del Pozo, A.; Prior de Castro, C.; Calatrava-Ferreras, L.; Gutierrez, P.; Bueno, A.M.; Sagastizabal, B.; Guillen-Navarro, E.; Ballesta-Martinez, M.; Gonzalez, V.; Basaran, S.Y.; Buyukoglan, R.; Sarikepe, B.; Espinoza-Valdez, C.; Cammarata-Scalisi, F.; Martinez-Glez, V.; Heath, K.E.; Lapunzina, P.; Ruiz-Perez, V.L. "Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.". Mol Genet Genomic Med. 5(1): 28-39. (2017). (PMID: 28116328).
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  31. Riancho-Zarrabeitia, L.; García-Unzueta, M.; Tenorio, J.A.; Gómez-Gerique, J.A.; Ruiz Pérez, V.L.; Heath, K.E.; Lapunzina, P.; Riancho, J.A. "Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults.". Eur. J. Intern. Med.. 29(): 40-45. (2016). (PMID: 26783040).
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  32. Valencia, M.; Tabet, L.; Yazbeck, N.; Araj, A.; Ruiz-Perez, V.L.; Charaffedine, K.; Fares, F.; Badra, R.; Farra, C. "Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families.". Case Rep Genet. 2015(): 528481. (2015). (PMID: 26064711).
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  33. Mattos, E.P.; Silva, A.A.; Magalhães, J.A.; Leite, J.C.; Leistner-Segal, S.; Gus-Kessler, R.; Perez, J.A.; Vedolin, L.M.; Torreblanca-Zanca, A.; Lapunzina, P.; Ruiz-Perez, V.L.; Sanseverino, M.T. "Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.". Am. J. Med. Genet. A. (): . (2015). (PMID: 25913727).
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  34. Caparrós-Martín, J.A.; de Luca, A.; Cartault, F.; Aglan, M.; Temtamy, S.; Otaify, G.A.; Mehrez, M.; Valencia, M.; Vázquez, L.; Alessandri, J.L.; Nevado, J.; Rueda-Arenas, I.; Heath, K.E.; Digilio, M.C.; Dallapiccola, B.; Goodship, J.A.; Mill, P.; Lapunzina, P.; Ruiz-Perez, V.L. "SPECIFIC VARIANTS IN WDR35 CAUSE A DISTINCTIVE FORM OF ELLIS-VAN CREVELD SYNDROME BY DISRUPTING THE RECRUITMENT OF THE EvC COMPLEX AND SMO INTO THE CILIUM.". Hum. Mol. Genet.. (): . (2015). (PMID: 25908617).
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  35. Tenorio, J.; Mansilla, A.; Valencia, M.; Martínez-Glez, V.; Romanelli, V.; Arias, P.; Castrejón, N.; Poletta, F.; Guillén-Navarro, E.; Gordo, G.; Mansilla, E.; García-Santiago, F.; González-Casado, I.; Vallespín, E.; Palomares, M.; Mori, M.A.; Santos-Simarro, F.; García-Miñaur, S.; Fernández, L.; Mena, R.; Benito-Sanz, S.; del Pozo, Á.; Silla, J.C.; Ibañez, K.; López-Granados, E.; Martín-Trujillo, A.; Montaner, D.; , .; Heath, K.E.; Campos-Barros, Á.; Dopazo, J.; Nevado, J.; Monk, D.; Ruiz-Pérez, V.L.; Lapunzina, P. "A new overgrowth syndrome is due to mutations in RNF125.". Hum. Mutat.. 35(12): 1436-1441. (2014). (PMID: 25196541).
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  36. Valencia, M.; Caparrós-Martin, J.A.; Sirerol-Piquer, M.S.; García-Verdugo, J.M.; Martínez-Glez, V.; Lapunzina, P.; Temtamy, S.; Aglan, M.; Lund, A.M.; Nikkels, P.G.; Ruiz-Perez, V.L.; Ostergaard, E. "Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects.". Am. J. Med. Genet. A. 164A(5): 1143-1150. (2014). (PMID: 24648371).
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  37. Guillén-Navarro, E.; Ballesta-Martínez, M.J.; Valencia, M.; Bueno, A.M.; Martinez-Glez, V.; López-González, V.; Burnyte, B.; Utkus, A.; Lapunzina, P.; Ruiz-Perez, V.L. "Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta.". Am. J. Med. Genet. A. 164A(5): 1136-1142. (2014). (PMID: 24478195).
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  38. Caparrós-Martin, J.A.; Valencia, M.; Pulido, V.; Martínez-Glez, V.; Rueda-Arenas, I.; Amr, K.; Farra, C.; Lapunzina, P.; Ruiz-Perez, V.L.; Temtamy, S.; Aglan, M. "Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations.". Am. J. Med. Genet. A. 161A(6): 1354-1369. (2013). (PMID: 23613367).
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  39. Keupp, K.; Beleggia, F.; Kayserili, H.; Barnes, A.M.; Steiner, M.; Semler, O.; Fischer, B.; Yigit, G.; Janda, C.Y.; Becker, J.; Breer, S.; Altunoglu, U.; Grünhagen, J.; Krawitz, P.; Hecht, J.; Schinke, T.; Makareeva, E.; Lausch, E.; Cankaya, T.; Caparrós-Martín, J.A.; Lapunzina, P.; Temtamy, S.; Aglan, M.; Zabel, B.; Eysel, P.; Koerber, F.; Leikin, S.; Garcia, K.C.; Netzer, C.; Schönau, E.; Ruiz-Perez, V.L.; Mundlos, S.; Amling, M.; Kornak, U.; Marini, J.; Wollnik, B. "Mutations in WNT1 cause different forms of bone fragility.". Am. J. Hum. Genet.. 92(4): 565-574. (2013). (PMID: 23499309).
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  40. Nakatomi, M.; Hovorakova, M.; Gritli-Linde, A.; Blair, H.J.; MacArthur, K.; Peterka, M.; Lesot, H.; Peterkova, R.; Ruiz-Perez, V.L.; Goodship, J.A.; Peters, H. "Evc regulates a symmetrical response to Shh signaling in molar development.". J. Dent. Res.. 92(3): 222-228. (2013). (PMID: 23315474).
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  41. Caparrós-Martín, J.A.; Valencia, M.; Reytor, E.; Pacheco, M.; Fernandez, M.; Perez-Aytes, A.; Gean, E.; Lapunzina, P.; Peters, H.; Goodship, J.A.; Ruiz-Perez, V.L. "The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia.". Hum. Mol. Genet.. 22(1): 124-139. (2013). (PMID: 23026747).
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  42. Puig-Hervás, M.T.; Temtamy, S.; Aglan, M.; Valencia, M.; Martínez-Glez, V.; Ballesta-Martínez, M.J.; López-González, V.; Ashour, A.M.; Amr, K.; Pulido, V.; Guillén-Navarro, E.; Lapunzina, P.; Caparrós-Martín, J.A.; Ruiz-Perez, V.L. "Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.". Hum. Mutat.. 33(10): 1444-1449. (2012). (PMID: 22689593).
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  43. Peraita-Ezcurra, M.; Martínez-García, M.; Ruiz-Pérez, V.L.; Sánchez-Gutiérrez, M.E.; Fenollar-Cortés, M.; Vélez-Monsalve, C.; Ramos-Corrales, C.; Pastor, I.; Santonja, C.; Trujillo-Tiebas, M.J. "Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings.". Gene. 499(1): 223-225. (2012). (PMID: 22406498).
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  44. Martínez-Glez, V.; Valencia, M.; Caparrós-Martín, J.A.; Aglan, M.; Temtamy, S.; Tenorio, J.; Pulido, V.; Lindert, U.; Rohrbach, M.; Eyre, D.; Giunta, C.; Lapunzina, P.; Ruiz-Perez, V.L. "Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta.". Hum. Mutat.. 33(2): 343-350. (2012). (PMID: 22052668).
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  45. Pacheco, M.; Valencia, M.; Caparrós-Martín, J.A.; Mulero, F.; Goodship, J.A.; Ruiz-Perez, V.L. "Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base.". Bone. 50(1): 28-41. (2012). (PMID: 21911092).
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  46. Palomares, M.; Delicado, A.; Mansilla, E.; de Torres, M.L.; Vallespín, E.; Fernandez, L.; Martinez-Glez, V.; García-Miñaur, S.; Nevado, J.; Simarro, F.S.; Ruiz-Perez, V.L.; Lynch, S.A.; Sharkey, F.H.; Thuresson, A.C.; Annerén, G.; Belligni, E.F.; Martínez-Fernández, M.L.; Bermejo, E.; Nowakowska, B.; Kutkowska-Kazmierczak, A.; Bocian, E.; Obersztyn, E.; Martínez-Frías, M.L.; Hennekam, R.C.; Lapunzina, P. "Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.". Am. J. Hum. Genet.. 89(2): 295-301. (2011). (PMID: 21802062).
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  47. Blair, H.J.; Tompson, S.; Liu, Y.N.; Campbell, J.; MacArthur, K.; Ponting, C.P.; Ruiz-Perez, V.L.; Goodship, J.A. "Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus.". BMC Biol.. 9(): 14. (2011). (PMID: 21356043).
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  48. Lapunzina, P.; Aglan, M.; Temtamy, S.; Caparrós-Martín, J.A.; Valencia, M.; Letón, R.; Martínez-Glez, V.; Elhossini, R.; Amr, K.; Vilaboa, N.; Ruiz-Perez, V.L. "Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.". Am. J. Hum. Genet.. 87(1): 110-114. (2010). (PMID: 20579626).
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  49. Valencia, M.; Lapunzina, P.; Lim, D.; Zannolli, R.; Bartholdi, D.; Wollnik, B.; Al-Ajlouni, O.; Eid, S.S.; Cox, H.; Buoni, S.; Hayek, J.; Martinez-Frias, M.L.; Antonio, P.A.; Temtamy, S.; Aglan, M.; Goodship, J.A.; Ruiz-Perez, V.L. "Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.". Hum. Mutat.. 30(12): 1667-1675. (2009). (PMID: 19810119).
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  50. Ruiz-Perez, V.L.; Goodship, J.A. "Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.". Am J Med Genet C Semin Med Genet. 151C(4): 341-351. (2009). (PMID: 19876929).
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  51. Temtamy, S.A.; Aglan, M.S.; Valencia, M.; Cocchi, G.; Pacheco, M.; Ashour, A.M.; Amr, K.S.; Helmy, S.M.; El-Gammal, M.A.; Wright, M.; Lapunzina, P.; Goodship, J.A.; Ruiz-Perez, V.L. "Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.". Hum. Mutat.. 29(7): 931-938. (2008). (PMID: 18454448).
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  52. Ruiz-Perez, V.L.; Blair, H.J.; Rodriguez-Andres, M.E.; Blanco, M.J.; Wilson, A.; Liu, Y.N.; Miles, C.; Peters, H.; Goodship, J.A. "Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia.". Development. 134(16): 2903-2912. (2007). (PMID: 17660199).
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  53. Tompson, S.W.; Ruiz-Perez, V.L.; Blair, H.J.; Barton, S.; Navarro, V.; Robson, J.L.; Wright, M.J.; Goodship, J.A. "Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.". Hum. Genet.. 120(5): 663-670. (2007). (PMID: 17024374).
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  54. Pan-Hammarström, Q.; Lähdesmäki, A.; Zhao, Y.; Du, L.; Zhao, Z.; Wen, S.; Ruiz-Perez, V.L.; Dunn-Walters, D.K.; Goodship, J.A.; Hammarström, L. "Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation.". J Exp Med. 203(1): 99-9110. (2006). (PMID: 16390936).
    spacer or =10 bp) may be ATR dependent. The SHM pattern in the Ig variable heavy chain genes is altered, with fewer mutations occurring at A and more mutations at T residues and thus a loss of strand bias in targeting A/T pairs within certain hotspots. These data suggest that the role of ATR is partially overlapping with that of ataxia telangiectasia-mutated protein, but that the former is also endowed with unique functional properties in the repair processes during CSR and SHM.')" value="Abstract">

  55. O'Driscoll, M.; Ruiz-Perez, V.L.; Woods, C.G.; Jeggo, P.A.; Goodship, J.A. "A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.". Nat. Genet.. 33(4): 497-501. (2003). (PMID: 12640452).
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  56. Ruiz-Perez, V.L.; Tompson, S.W.; Blair, H.J.; Espinoza-Valdez, C.; Lapunzina, P.; Silva, E.O.; Hamel, B.; Gibbs, J.L.; Young, I.D.; Wright, M.J.; Goodship, J.A. "Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.". Am. J. Hum. Genet.. 72(3): 728-732. (2003). (PMID: 12571802).
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  57. Tompson, S.W.; Ruiz-Perez, V.L.; Wright, M.J.; Goodship, J.A. "Ellis-van Creveld syndrome resulting from segmental uniparental disomy of chromosome 4.". J Med Genet. 38(6): E18. (2001). (PMID: 11389165).
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  58. Hagan, D.M.; Ross, A.J.; Strachan, T.; Lynch, S.A.; Ruiz-Perez, V.; Wang, Y.M.; Scambler, P.; Custard, E.; Reardon, W.; Hassan, S.; Nixon, P.; Papapetrou, C.; Winter, R.M.; Edwards, Y.; Morrison, K.; Barrow, M.; Cordier-Alex, M.P.; Correia, P.; Galvin-Parton, P.A.; Gaskill, S.; Gaskin, K.J.; Garcia-Minaur, S.; Gereige, R.; Hayward, R.; Homfray, T. "Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene.". Am. J. Hum. Genet.. 66(5): 1504-1515. (2000). (PMID: 10749657).
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  59. Ruiz-Perez, V.L.; Ide, S.E.; Strom, T.M.; Lorenz, B.; Wilson, D.; Woods, K.; King, L.; Francomano, C.; Freisinger, P.; Spranger, S.; Marino, B.; Dallapiccola, B.; Wright, M.; Meitinger, T.; Polymeropoulos, M.H.; Goodship, J. "Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.". Nat. Genet.. 24(3): 283-286. (2000). (PMID: 10700184).
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  60. Navarro, E.; Ruiz-Pérez, V.L.; Torres-Martínez, S. "Overexpression of the crgA gene abolishes light requirement for carotenoid biosynthesis in Mucor circinelloides.". Eur. J. Biochem.. 267(3): 800-807. (2000). (PMID: 10651817).
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  61. Ruiz-Perez, V.L.; Carter, S.A.; Healy, E.; Todd, C.; Rees, J.L.; Steijlen, P.M.; Carmichael, A.J.; Lewis, H.M.; Hohl, D.; Itin, P.; Vahlquist, A.; Gobello, T.; Mazzanti, C.; Reggazini, R.; Nagy, G.; Munro, C.S.; Strachan, T. "ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class.". Hum. Mol. Genet.. 8(9): 1621-1630. (1999). (PMID: 10441324).
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  62. Sakuntabhai, A.; Ruiz-Perez, V.; Carter, S.; Jacobsen, N.; Burge, S.; Monk, S.; Smith, M.; Munro, C.S.; O'Donovan, M.; Craddock, N.; Kucherlapati, R.; Rees, J.L.; Owen, M.; Lathrop, G.M.; Monaco, A.P.; Strachan, T.; Hovnanian, A. "Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.". Nat. Genet.. 21(3): 271-277. (1999). (PMID: 10080178).
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  63. Ross, A.J.; Ruiz-Perez, V.; Wang, Y.; Hagan, D.M.; Scherer, S.; Lynch, S.A.; Lindsay, S.; Custard, E.; Belloni, E.; Wilson, D.I.; Wadey, R.; Goodman, F.; Orstavik, K.H.; Monclair, T.; Robson, S.; Reardon, W.; Burn, J.; Scambler, P.; Strachan, T. "A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis.". Nat. Genet.. 20(4): 358-361. (1998). (PMID: 9843207).
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  64. Monk, S.; Sakuntabhai, A.; Carter, S.A.; Bryce, S.D.; Cox, R.; Harrington, L.; Levy, E.; Ruiz-Perez, V.L.; Katsantoni, E.; Kodvawala, A.; Munro, C.S.; Burge, S.; Larrègue, M.; Nagy, G.; Rees, J.L.; Lathrop, M.; Monaco, A.P.; Strachan, T.; Hovnanian, A. "Refined genetic mapping of the darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region.". Am. J. Hum. Genet.. 62(4): 890-903. (1998). (PMID: 9529352).
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  65. Ruiz-Pérez, V.L.; Murillo, F.J.; Torres-Martínez, S. "Prt1, an unusual retrotransposon-like sequence in the fungus Phycomyces blakesleeanus.". Mol. Gen. Genet.. 253(3): 324-333. (1996). (PMID: 9003319).
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  66. Ruiz-Pérez, V.L.; Murillo, F.J.; Torres-Martínez, S. "PkpA, a novel Phycomyces blakesleeanus serine/threonine protein kinase.". Curr. Genet.. 28(4): 309-316. (1995). (PMID: 8590476).
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