27 Aug | 2024 Non-immune hydrops fetalis is associated with bi-allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene. Tenorio-Castano, J, Mansilla Aparicio, E, García Santiago, FA, Klotz, CM, Regojo, RM, 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, VL , Lapunzina, P. Clin Genet (PMID: 39191491) (doi:10.1111/cge.14601)
26 Mar | 2024 Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis. Altunoglu, U, Palencia-Campos, A , Güneş, N, Turgut, GT, Nevado, J, Lapunzina, P, Valencia, M , Iturrate, A , Otaify, G, Elhossini, R, Ashour, A, K Amin, A, Elnahas, RF, Fernandez-Nuñez, E , Flores, CL , Arias, P, Tenorio, J, Chamorro Fernández, CI, Güven, Y, Özsu, E, Eklioğlu, BS, Ibarra-Ramirez, M, Diness, BR, Burnyte, B, Ajmi, H, Yüksel, Z, Yıldırım, R, Ünal, E, Abdalla, E, Aglan, M, Kayserili, H, Tuysuz, B, Ruiz-Pérez, V . J Med Genet (PMID: 38531627) (doi:10.1136/jmg-2023-109546)
27 Jul | 2023 EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO. Barbeito, P , Martin-Morales, R , Palencia-Campos, A , Cerrolaza, J , Rivas-Santos, C , Gallego-Colastra, L , Caparros-Martin, JA , Martin-Bravo, C , Martin-Hurtado, A , Sánchez-Bellver, L, Marfany, G, Ruiz-Perez, VL , Garcia-Gonzalo, FR . Front Cell Dev Biol - 11 : 1190258 (PMID: 37576597) (doi:10.3389/fcell.2023.1190258)
4 Jan | 2023 Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome. Piceci-Sparascio, F, Micale, L, Torres, B, Guida, V, Consoli, F, Torrente, I, Onori, A, Frustaci, E, D'Asdia, MC, 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, MC, Mazza, T, Dallapiccola, B, Ruiz-Perez, VL , Tartaglia, M, Castori, M, De Luca, A. Eur J Hum Genet (PMID: 36599940) (doi:10.1038/s41431-022-01276-7)
29 Dec | 2022 Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder. Maroofian, R, Efthymiou, S, Suri, M, Rahman, F, Zaki, MS, Maqbool, S, Anwa, N, Ruiz-Pérez, VL , Yanovsky-Dagan, S, Elpeleg, O, Sudhakar, S, Mankad, K, Harel, T, Houlden, H. J Med Genet (PMID: 36581449) (doi:10.1136/jmg-2022-108566)
29 Oct | 2022 A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies. Álvarez, LFG, Tenorio-Castaño, J, Poletta, FA, Santos-Simarro, F, Arias, P, Gallego, N, Orioli, IM, Mundlos, S, Castilla, EE, Martínez-Glez, V, Martínez-Frías, ML, Ruiz-Pérez, VL , Nevado, J , Lapunzina, P. Am J Med Genet A (PMID: 36308343) (doi:10.1002/ajmg.a.62994)
6 Oct | 2022 A PKA inhibitor motif within SMOOTHENED controls Hedgehog signal transduction. Happ, JT, Arveseth, CD, Bruystens, J, Bertinetti, D, Nelson, IB, Olivieri, C, Zhang, J, Hedeen, DS, Zhu, JF, Capener, JL, Bröckel, JW, Vu, L, King, CC, Ruiz-Perez, VL , Ge, X, Veglia, G, Herberg, FW, Taylor, SS, Myers, BR. Nat Struct Mol Biol (PMID: 36202993) (doi:10.1038/s41594-022-00838-z)
4 Oct | 2022 FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects. 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, WW, 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, VL , Devriendt, K, Pasquier, L, Pérez-Jurado, LA. Genet Med (PMID: 36197437) (doi:10.1016/j.gim.2022.09.002)
6 Sep | 2022 Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia. Iturrate, A , Rivera-Barahona, A , Flores, CL , Otaify, GA, Elhossini, R, Perez-Sanz, ML , Nevado, J , Tenorio-Castano, J, Triviño, JC, Garcia-Gonzalo, FR , Piceci-Sparascio, F, De Luca, A, Martínez, L, Kalaycı, T, Lapunzina, P, Altunoglu, U, Aglan, M, Abdalla, E, Ruiz-Perez, VL . Am J Hum Genet (PMID: 36084634) (doi:10.1016/j.ajhg.2022.08.009)
1 Apr | 2022 Blocking chondrocyte hypertrophy in conditional Evc knockout mice does not modify cartilage damage in osteoarthritis. Lamuedra, A, Gratal, P, Calatrava, L , Ruiz-Perez, VL , Palencia-Campos, A , Portal-Núñez, S, Mediero, A, Herrero-Beaumont, G, Largo, R. FASEB J - 36 (4) : e22258 (PMID: 35334131) (doi:10.1096/fj.202101791RR)
31 Aug | 2021 3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease. Kague, E, Turci, F, Newman, E, Yang, Y, Brown, KR, Aglan, MS, Otaify, GA, Temtamy, SA, Ruiz-Perez, VL , Cross, S, Royall, CP, Witten, PE, Hammond, CL. Bone Res - 9 (1) : 39 (PMID: 34465741) (doi:10.1038/s41413-021-00156-y)
16 May | 2021 The portrayal of dwarfism without skeletal dysplasia in art: Proportionate short stature due to growth hormone deficiency and other disorders. Lapunzina, P, Tenorio-Castaño, J, Nevado, J , Campos Barros, Á, Pachajoa, H, Ruiz-Pérez, VL , Castilla, EE. Am J Med Genet C Semin Med Genet (PMID: 33998134) (doi:10.1002/ajmg.c.31916)
13 Jan | 2021 Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly. Horn, D, Fernández-Núñez, E , Gomez-Carmona, R , Rivera-Barahona, A , Nevado, J, Schwartzmann, S, Ehmke, N, Lapunzina, P, Otaify, GA, Temtamy, S, Aglan, M, Boschann, F, Ruiz-Perez, VL . Genet Med (PMID: 33442026) (doi:10.1038/s41436-020-01052-2)
14 Oct | 2020 Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome. Palencia-Campos, A , Aoto, PC, Machal, EMF, 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, MS, Coleman, M, Bahlo, M, Bennett, MF, Schneider, AL, Scheffer, IE, Kibæk, M, Kristiansen, BS, Issa, MY, Mehrez, MI, Ismail, S, Tenorio, J, Li, G, Skålhegg, BS, Otaify, GA, Temtamy, S, Aglan, M, Jønch, AE, De Luca, A, Mortier, G, Cormier-Daire, V, Ziegler, A, Wallis, M, Lapunzina, P, Herberg, FW, Taylor, SS, Ruiz-Perez, VL . Am J Hum Genet (PMID: 33058759) (doi:10.1016/j.ajhg.2020.09.005)
9 Oct | 2020 Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2. van Dijk, FS, Semler, O, Etich, J, Köhler, A, Jimenez-Estrada, JA , Bravenboer, N, Claeys, L, Riesebos, E, Gegic, S, Piersma, SR, Jimenez, CR, Waisfisz, Q, Flores, CL , Nevado, J, Harsevoort, AJ, Janus, GJM, Franken, AAM, van der Sar, AM, Meijers-Heijboer, H, Heath, KE, Lapunzina, P, Nikkels, PGJ, Santen, GWE, Nüchel, J, Plomann, M, Wagener, R, Rehberg, M, Hoyer-Kuhn, H, Eekhoff, EMW, Pals, G, Mörgelin, M, Newstead, S, Wilson, BT, Ruiz-Perez, VL , Maugeri, A, Netzer, C, Zaucke, F, Micha, D. Am J Hum Genet (PMID: 33053334) (doi:10.1016/j.ajhg.2020.09.009)
9 Sep | 2020 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. Piceci-Sparascio, F, Palencia-Campos, A , Soto-Bielicka, P , Danzi, A, Guida, V, Rosati, J, Caparros-Martin, JA , Torrente, I, Cecilia D'Asdia, M, Versacci, P, Briuglia, S, Lapunzina, P, Tartaglia, M, Marino, B, Digilio, MC, Ruiz-Perez, VL , De Luca, A. Hum. Mutat. (PMID: 32906221) (doi:10.1002/humu.24112)
14 Jul | 2020 A six-attribute classification of genetic mosaicism. Martínez-Glez, V, Tenorio, J, Nevado, J , Gordo, G, Rodríguez-Laguna, L, Feito, M, de Lucas, R, Pérez-Jurado, LA, Ruiz Pérez, VL , Torrelo, A, Spinner, NB, Happle, R, Biesecker, LG, Lapunzina, P. Genet. Med. (PMID: 32661356) (doi:10.1038/s41436-020-0877-3)
1 Jul | 2020 Disorganization of chondrocyte columns in the growth plate does not aggravate experimental osteoarthritis in mice. Lamuedra, A, Gratal, P, Calatrava, L , Ruiz-Perez, VL , Largo, R, Herrero-Beaumont, G. Sci Rep - 10 (1) : 10745 (PMID: 32612184) (doi:10.1038/s41598-020-67518-0)
4 Nov | 2019 Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients. Tenorio, J, Alarcón, P, Arias, P, Dapía, I, García-Miñaur, S, Palomares Bralo, M, Campistol, J, Climent, S, Valenzuela, I, Ramos, S, Monseny, AM, Grondona, FL, Botet, J, Serrano, M, Solís, M, Santos-Simarro, F, Álvarez, S, Teixidó-Tura, G, Fernández Jaén, A, Gordo, G, Bardón Rivera, MB, Nevado, J , Hernández, A, Cigudosa, JC, Ruiz-Pérez, VL , Tizzano, EF, , , Lapunzina, P. Eur. J. Hum. Genet. (PMID: 31685998) (doi:10.1038/s41431-019-0485-3)
24 Sep | 2019 Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B. Palencia-Campos, A , Martínez-Fernández, ML, 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, MS, Temtamy, S, Otaify, GA, Cuevas-Catalina, L, Torres-Saavedra, MN, Nevado, J, Tenorio, J, Lapunzina, P, Bermejo-Sánchez, E, Ruiz-Pérez, VL . Hum. Mutat. (PMID: 31549748) (doi:10.1002/humu.23921)
15 Feb | 2019 Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy. Estañ, MC , Fernández-Núñez, E , Zaki, MS, Esteban, MI, Donkervoort, S, Hawkins, C, Caparros-Martin, JA , Saade, D, Hu, Y, Bolduc, V, Chao, KR, Nevado, J , Lamuedra, A, Largo, R, Herrero-Beaumont, G, Regadera, J, Hernandez-Chico, C, Tizzano, EF, Martinez-Glez, V, Carvajal, JJ, Zong, R, Nelson, DL, Otaify, GA, Temtamy, S, Aglan, M, Issa, M, Bönnemann, CG, Lapunzina, P, Yoon, G, Ruiz-Perez, VL . Nat Commun - 10 (1) : 797 (PMID: 30770808) (doi:10.1038/s41467-019-08548-9)
9 Jan | 2019 MRX93 syndrome (BRWD3 gene): five new patients with novel mutations. Tenorio, J, Alarcón, P, Arias, P, Ramos, FJ, Campistol, J, Climent, S, García-Miñaur, S, Dapia, I, Hernández, A, Nevado, J , Solís, M, Ruiz Pérez, VL , Consortium, TSOGRI, Lapunzina, P. Clin. Genet. (PMID: 30628072) (doi:10.1111/cge.13504)
1 Aug | 2018 CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype. Rodriguez-Laguna, L, Ibañez, K, Gordo, G, Garcia-Minaur, S, Santos-Simarro, F, Agra, N , Vallespín, E, Fernández-Montaño, VE, Martín-Arenas, R, Del Pozo, Á, González-Pecellín, H, Mena, R, Rueda-Arenas, I, Gomez, MV, Villaverde, C, Bustamante, A, Ayuso, C, Ruiz-Perez, VL , Nevado, J , Lapunzina, P, Lopez-Gutierrez, JC, Martinez-Glez, V. Genet. Med. - 20 (8) : 882-889 (PMID: 29446767) (doi:10.1038/gim.2017.200)
1 Apr | 2018 FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta. Doyard, M, Bacrot, S, Huber, C, Di Rocco, M, Goldenberg, A, Aglan, MS, Brunelle, P, Temtamy, S, Michot, C, Otaify, GA, Haudry, C, Castanet, M, Leroux, J, Bonnefont, JP, Munnich, A, Baujat, G, Lapunzina, P, Monnot, S, Ruiz-Perez, VL , Cormier-Daire, V. J. Med. Genet. - 55 (4) : 278-284 (PMID: 29358272) (doi:10.1136/jmedgenet-2017-104999)
12 Dec | 2017 Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome. Ibarra-Ramirez, M, Campos-Acevedo, LD, Lugo-Trampe, J, Martínez-Garza, LE, Martinez-Glez, V, Valencia-Benitez, M , Lapunzina, P, Ruiz-Peréz, V . Am J Case Rep - 18 : 1325-1329 (PMID: 29229899)
11 Sep | 2017 mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review. Gordo, G, Tenorio, J, Arias, P, Santos-Simarro, F, García-Miñaur, S, Moreno, JC, Nevado, J, Vallespin, E, Rodriguez-Laguna, L, de Mena, R, Dapia, I, Palomares, M, Del Pozo, Á, Ibañez, K, Silla, JC, Barroso, E, Ruiz Pérez, VL , Martinez-Glez, V, Lapunzina, P. Clin. Genet. (PMID: 28892148) (doi:10.1111/cge.13135)
30 Aug | 2017 Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome. Niceta, M, Margiotti, K, Digilio, MC, Guida, V, Bruselles, A, Pizzi, S, Ferraris, A, Memo, L, Laforgia, N, Dentici, ML, Consoli, F, Torrente, I, Ruiz-Perez, VL , Dallapiccola, B, Marino, B, De Luca, A, Tartaglia, M. Clin. Genet. (PMID: 28857138) (doi:10.1111/cge.13128)
26 Aug | 2017 GLI1 Inactivation is associated with Developmental Phenotypes Overlapping with Ellis-Van Creveld Syndrome. 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, VL . Hum. Mol. Genet. (PMID: 28973407) (doi:10.1093/hmg/ddx335)
27 Jan | 2017 Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of hypophosphatasia. Tenorio, J, Álvarez, I, Riancho-Zarrabeitia, L, Martos-Moreno, GÁ, Mandrile, G, de la Flor Crespo, M, Sukchev, M, Sherif, M, Kramer, I, Darnaude-Ortiz, MT, Arias, P, Gordo, G, Dapía, I, Martinez-Villanueva, J, Gómez, R, Iturzaeta, JM, Otaify, G, García-Unzueta, M, Rubinacci, A, Riancho, JA, Aglan, M, Temtamy, S, Hamid, MA, Argente, J, Ruiz-Pérez, VL , Heath, KE, Lapunzina, P. Am. J. Med. Genet. A (PMID: 28127875) (doi:10.1002/ajmg.a.37991)
24 Jan | 2017 Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta. Caparros-Martin, JA, Aglan, MS, Temtamy, S, Otaify, GA, Valencia, M , Nevado, J , Vallespin, E, Del Pozo, A, Prior de Castro, C, Calatrava-Ferreras, L, Gutierrez, P, Bueno, AM, Sagastizabal, B, Guillen-Navarro, E, Ballesta-Martinez, M, Gonzalez, V, Basaran, SY, Buyukoglan, R, Sarikepe, B, Espinoza-Valdez, C, Cammarata-Scalisi, F, Martinez-Glez, V, Heath, KE, Lapunzina, P, Ruiz-Perez, VL . Mol Genet Genomic Med - 5 (1) : 28-39 (PMID: 28116328) (doi:10.1002/mgg3.257)
1 Apr | 2016 Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults. Riancho-Zarrabeitia, L, García-Unzueta, M, Tenorio, JA, Gómez-Gerique, JA, Ruiz Pérez, VL , Heath, KE, Lapunzina, P, Riancho, JA. Eur. J. Intern. Med. - 29 : 40-45 (PMID: 26783040) (doi:10.1016/j.ejim.2015.12.019)
30 Apr | 2015 Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families. Valencia, M , Tabet, L, Yazbeck, N, Araj, A, Ruiz-Perez, VL , Charaffedine, K, Fares, F, Badra, R, Farra, C. Case Rep Genet - 2015 : 528481 (PMID: 26064711) (doi:10.1155/2015/528481)
25 Apr | 2015 Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability. Mattos, EP, Silva, AA, Magalhães, JA, Leite, JC, Leistner-Segal, S, Gus-Kessler, R, Perez, JA, Vedolin, LM, Torreblanca-Zanca, A, Lapunzina, P, Ruiz-Perez, VL , Sanseverino, MT. Am. J. Med. Genet. A (PMID: 25913727) (doi:10.1002/ajmg.a.36930)
23 Apr | 2015 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. Caparrós-Martín, JA , de Luca, A, Cartault, F, Aglan, M, Temtamy, S, Otaify, GA, Mehrez, M, Valencia, M , Vázquez, L, Alessandri, JL, Nevado, J , Rueda-Arenas, I, Heath, KE, Digilio, MC, Dallapiccola, B, Goodship, JA, Mill, P, Lapunzina, P, Ruiz-Perez, VL . Hum. Mol. Genet. (PMID: 25908617) (doi:10.1093/hmg/ddv152)
1 Dec | 2014 A new overgrowth syndrome is due to mutations in RNF125. 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, MA, Santos-Simarro, F, García-Miñaur, S, Fernández, L, Mena, R, Benito-Sanz, S, del Pozo, Á, Silla, JC, Ibañez, K, López-Granados, E, Martín-Trujillo, A, Montaner, D, , , Heath, KE, Campos-Barros, Á, Dopazo, J, Nevado, J , Monk, D, Ruiz-Pérez, VL , Lapunzina, P. Hum. Mutat. - 35 (12) : 1436-1441 (PMID: 25196541) (doi:10.1002/humu.22689)
1 May | 2014 Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects. Valencia, M , Caparrós-Martin, JA , Sirerol-Piquer, MS, García-Verdugo, JM, Martínez-Glez, V, Lapunzina, P, Temtamy, S, Aglan, M, Lund, AM, Nikkels, PG, Ruiz-Perez, VL , Ostergaard, E. Am. J. Med. Genet. A - 164A (5) : 1143-1150 (PMID: 24648371) (doi:10.1002/ajmg.a.36427)
1 May | 2014 Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta. Guillén-Navarro, E, Ballesta-Martínez, MJ, Valencia, M , Bueno, AM, Martinez-Glez, V, López-González, V, Burnyte, B, Utkus, A, Lapunzina, P, Ruiz-Perez, VL . Am. J. Med. Genet. A - 164A (5) : 1136-1142 (PMID: 24478195) (doi:10.1002/ajmg.a.36409)
1 Jun | 2013 Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations. Caparrós-Martin, JA , Valencia, M , Pulido, V , Martínez-Glez, V, Rueda-Arenas, I, Amr, K, Farra, C, Lapunzina, P, Ruiz-Perez, VL , Temtamy, S, Aglan, M. Am. J. Med. Genet. A - 161A (6) : 1354-1369 (PMID: 23613367) (doi:10.1002/ajmg.a.35938)
4 Apr | 2013 Mutations in WNT1 cause different forms of bone fragility. Keupp, K, Beleggia, F, Kayserili, H, Barnes, AM, Steiner, M, Semler, O, Fischer, B, Yigit, G, Janda, CY, Becker, J, Breer, S, Altunoglu, U, Grünhagen, J, Krawitz, P, Hecht, J, Schinke, T, Makareeva, E, Lausch, E, Cankaya, T, Caparrós-Martín, JA , Lapunzina, P, Temtamy, S, Aglan, M, Zabel, B, Eysel, P, Koerber, F, Leikin, S, Garcia, KC, Netzer, C, Schönau, E, Ruiz-Perez, VL , Mundlos, S, Amling, M, Kornak, U, Marini, J, Wollnik, B. Am. J. Hum. Genet. - 92 (4) : 565-574 (PMID: 23499309) (doi:10.1016/j.ajhg.2013.02.010)
1 Mar | 2013 Evc regulates a symmetrical response to Shh signaling in molar development. Nakatomi, M, Hovorakova, M, Gritli-Linde, A, Blair, HJ, MacArthur, K, Peterka, M, Lesot, H, Peterkova, R, Ruiz-Perez, VL , Goodship, JA, Peters, H. J. Dent. Res. - 92 (3) : 222-228 (PMID: 23315474) (doi:10.1177/0022034512471826)
1 Jan | 2013 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. Caparrós-Martín, JA , Valencia, M , Reytor, E , Pacheco, M , Fernandez, M, Perez-Aytes, A, Gean, E, Lapunzina, P, Peters, H, Goodship, JA, Ruiz-Perez, VL . Hum. Mol. Genet. - 22 (1) : 124-139 (PMID: 23026747) (doi:10.1093/hmg/dds409)
1 Oct | 2012 Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum. Puig-Hervás, MT , Temtamy, S, Aglan, M, Valencia, M , Martínez-Glez, V, Ballesta-Martínez, MJ, López-González, V, Ashour, AM, Amr, K, Pulido, V , Guillén-Navarro, E, Lapunzina, P, Caparrós-Martín, JA , Ruiz-Perez, VL . Hum. Mutat. - 33 (10) : 1444-1449 (PMID: 22689593) (doi:10.1002/humu.22133)
10 May | 2012 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. Peraita-Ezcurra, M, Martínez-García, M, Ruiz-Pérez, VL , Sánchez-Gutiérrez, ME, Fenollar-Cortés, M, Vélez-Monsalve, C, Ramos-Corrales, C, Pastor, I, Santonja, C, Trujillo-Tiebas, MJ. Gene - 499 (1) : 223-225 (PMID: 22406498) (doi:10.1016/j.gene.2012.02.030)
1 Feb | 2012 Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. Martínez-Glez, V, Valencia, M , Caparrós-Martín, JA , Aglan, M, Temtamy, S, Tenorio, J, Pulido, V , Lindert, U, Rohrbach, M, Eyre, D, Giunta, C, Lapunzina, P, Ruiz-Perez, VL . Hum. Mutat. - 33 (2) : 343-350 (PMID: 22052668) (doi:10.1002/humu.21647)
1 Jan | 2012 Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base. Pacheco, M , Valencia, M , Caparrós-Martín, JA , Mulero, F, Goodship, JA, Ruiz-Perez, VL . Bone - 50 (1) : 28-41 (PMID: 21911092) (doi:10.1016/j.bone.2011.08.025)
12 Aug | 2011 Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype. Palomares, M, Delicado, A, Mansilla, E, de Torres, ML, Vallespín, E, Fernandez, L, Martinez-Glez, V, García-Miñaur, S, Nevado, J , Simarro, FS, Ruiz-Perez, VL , Lynch, SA, Sharkey, FH, Thuresson, AC, Annerén, G, Belligni, EF, Martínez-Fernández, ML, Bermejo, E, Nowakowska, B, Kutkowska-Kazmierczak, A, Bocian, E, Obersztyn, E, Martínez-Frías, ML, Hennekam, RC, Lapunzina, P. Am. J. Hum. Genet. - 89 (2) : 295-301 (PMID: 21802062) (doi:10.1016/j.ajhg.2011.06.012)
28 Feb | 2011 Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus. Blair, HJ, Tompson, S, Liu, YN, Campbell, J, MacArthur, K, Ponting, CP, Ruiz-Perez, VL , Goodship, JA. BMC Biol. - 9 : 14 (PMID: 21356043) (doi:10.1186/1741-7007-9-14)
9 Jul | 2010 Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. Lapunzina, P, Aglan, M, Temtamy, S, Caparrós-Martín, JA , Valencia, M , Letón, R, Martínez-Glez, V, Elhossini, R, Amr, K, Vilaboa, N , Ruiz-Perez, VL . Am. J. Hum. Genet. - 87 (1) : 110-114 (PMID: 20579626) (doi:10.1016/j.ajhg.2010.05.016)
1 Dec | 2009 Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. Valencia, M , Lapunzina, P, Lim, D, Zannolli, R, Bartholdi, D, Wollnik, B, Al-Ajlouni, O, Eid, SS, Cox, H, Buoni, S, Hayek, J, Martinez-Frias, ML, Antonio, PA, Temtamy, S, Aglan, M, Goodship, JA, Ruiz-Perez, VL . Hum. Mutat. - 30 (12) : 1667-1675 (PMID: 19810119) (doi:10.1002/humu.21117)
15 Nov | 2009 Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. Ruiz-Perez, VL , Goodship, JA. Am J Med Genet C Semin Med Genet - 151C (4) : 341-351 (PMID: 19876929) (doi:10.1002/ajmg.c.30226)
1 Jul | 2008 Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence. Temtamy, SA, Aglan, MS, Valencia, M , Cocchi, G, Pacheco, M, Ashour, AM, Amr, KS, Helmy, SM, El-Gammal, MA, Wright, M, Lapunzina, P, Goodship, JA, Ruiz-Perez, VL . Hum. Mutat. - 29 (7) : 931-938 (PMID: 18454448) (doi:10.1002/humu.20778)
1 Aug | 2007 Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia. Ruiz-Perez, VL , Blair, HJ, Rodriguez-Andres, ME, Blanco, MJ, Wilson, A, Liu, YN, Miles, C, Peters, H, Goodship, JA. Development - 134 (16) : 2903-2912 (PMID: 17660199) (doi:10.1242/dev.007542)
1 Jan | 2007 Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. Tompson, SW, Ruiz-Perez, VL , Blair, HJ, Barton, S, Navarro, V, Robson, JL, Wright, MJ, Goodship, JA. Hum. Genet. - 120 (5) : 663-670 (PMID: 17024374) (doi:10.1007/s00439-006-0237-7)
23 Jan | 2006 Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation. Pan-Hammarström, Q, Lähdesmäki, A, Zhao, Y, Du, L, Zhao, Z, Wen, S, Ruiz-Perez, VL , Dunn-Walters, DK, Goodship, JA, Hammarström, L. J Exp Med - 203 (1) : 99-9110 (PMID: 16390936) (doi:10.1084/jem.20050595)
1 Apr | 2003 A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. O'Driscoll, M, Ruiz-Perez, VL , Woods, CG, Jeggo, PA, Goodship, JA. Nat. Genet. - 33 (4) : 497-501 (PMID: 12640452) (doi:10.1038/ng1129)
1 Mar | 2003 Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. Ruiz-Perez, VL , Tompson, SW, Blair, HJ, Espinoza-Valdez, C, Lapunzina, P, Silva, EO, Hamel, B, Gibbs, JL, Young, ID, Wright, MJ, Goodship, JA. Am. J. Hum. Genet. - 72 (3) : 728-732 (PMID: 12571802)
4 Jun | 2001 Ellis-van Creveld syndrome resulting from segmental uniparental disomy of chromosome 4. Tompson, SW, Ruiz-Perez, VL , Wright, MJ, Goodship, JA. J. Med. Genet. - 38 (6) : E18 (PMID: 11389165)
1 May | 2000 Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene. Hagan, DM, Ross, AJ, Strachan, T, Lynch, SA, Ruiz-Perez, V , Wang, YM, Scambler, P, Custard, E, Reardon, W, Hassan, S, Nixon, P, Papapetrou, C, Winter, RM, Edwards, Y, Morrison, K, Barrow, M, Cordier-Alex, MP, Correia, P, Galvin-Parton, PA, Gaskill, S, Gaskin, KJ, Garcia-Minaur, S, Gereige, R, Hayward, R, Homfray, T. Am. J. Hum. Genet. - 66 (5) : 1504-1515 (PMID: 10749657)
1 Mar | 2000 Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Ruiz-Perez, VL , Ide, SE, Strom, TM, Lorenz, B, Wilson, D, Woods, K, King, L, Francomano, C, Freisinger, P, Spranger, S, Marino, B, Dallapiccola, B, Wright, M, Meitinger, T, Polymeropoulos, MH, Goodship, J. Nat. Genet. - 24 (3) : 283-286 (PMID: 10700184) (doi:10.1038/73508)
1 Feb | 2000 Overexpression of the crgA gene abolishes light requirement for carotenoid biosynthesis in Mucor circinelloides. Navarro, E, Ruiz-Pérez, VL , Torres-Martínez, S. Eur. J. Biochem. - 267 (3) : 800-807 (PMID: 10651817)
1 Sep | 1999 ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class. Ruiz-Perez, VL , Carter, SA, Healy, E, Todd, C, Rees, JL, Steijlen, PM, Carmichael, AJ, Lewis, HM, Hohl, D, Itin, P, Vahlquist, A, Gobello, T, Mazzanti, C, Reggazini, R, Nagy, G, Munro, CS, Strachan, T. Hum. Mol. Genet. - 8 (9) : 1621-1630 (PMID: 10441324)
31 Mar | 1999 Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Sakuntabhai, A, Ruiz-Perez, V , Carter, S, Jacobsen, N, Burge, S, Monk, S, Smith, M, Munro, CS, O'Donovan, M, Craddock, N, Kucherlapati, R, Rees, JL, Owen, M, Lathrop, GM, Monaco, AP, Strachan, T, Hovnanian, A. Nat. Genet. - 21 (3) : 271-277 (PMID: 10080178) (doi:10.1038/6784)
21 Dec | 1998 A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Ross, AJ, Ruiz-Perez, V , Wang, Y, Hagan, DM, Scherer, S, Lynch, SA, Lindsay, S, Custard, E, Belloni, E, Wilson, DI, Wadey, R, Goodman, F, Orstavik, KH, Monclair, T, Robson, S, Reardon, W, Burn, J, Scambler, P, Strachan, T. Nat. Genet. - 20 (4) : 358-361 (PMID: 9843207) (doi:10.1038/3828)
1 Apr | 1998 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. Monk, S, Sakuntabhai, A, Carter, SA, Bryce, SD, Cox, R, Harrington, L, Levy, E, Ruiz-Perez, VL , Katsantoni, E, Kodvawala, A, Munro, CS, Burge, S, Larrègue, M, Nagy, G, Rees, JL, Lathrop, M, Monaco, AP, Strachan, T, Hovnanian, A. Am. J. Hum. Genet. - 62 (4) : 890-903 (PMID: 9529352) (doi:10.1086/301794)
13 Dec | 1996 Prt1, an unusual retrotransposon-like sequence in the fungus Phycomyces blakesleeanus. Ruiz-Pérez, VL , Murillo, FJ, Torres-Martínez, S. Mol. Gen. Genet. - 253 (3) : 324-333 (PMID: 9003319)
1 Sep | 1995 PkpA, a novel Phycomyces blakesleeanus serine/threonine protein kinase. Ruiz-Pérez, VL , Murillo, FJ, Torres-Martínez, S. Curr. Genet. - 28 (4) : 309-316 (PMID: 8590476)