Neus Roca-Ayats - Publications

Affiliations: 
Department of Genetics, Microbiology and Statistics Universitat de Barcelona, Barcelona, Cataluña, Spain 

9 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2021 Martínez-Gil N, Roca-Ayats N, Cozar M, Garcia-Giralt N, Ovejero D, Nogués X, Grinberg D, Balcells S. Genetics and Genomics of : Functional Analysis of Variants and Genomic Regulation in Osteoblasts. International Journal of Molecular Sciences. 22. PMID 33419004 DOI: 10.3390/ijms22020489  0.88
2020 Martínez-Gil N, Roca-Ayats N, Atalay N, Pineda-Moncusí M, Garcia-Giralt N, Van Hul W, Boudin E, Ovejero D, Mellibovsky L, Nogués X, Díez-Pérez A, Grinberg D, Balcells S. Functional Assessment of Coding and Regulatory Variants From the Locus. Jbmr Plus. 4: e10423. PMID 33354644 DOI: 10.1002/jbm4.10423  0.88
2019 Serra-Vinardell J, Roca-Ayats N, De-Ugarte L, Vilageliu L, Balcells S, Grinberg D. Bone development and remodeling in metabolic disorders. Journal of Inherited Metabolic Disease. PMID 30942483 DOI: 10.1002/jimd.12097  0.88
2019 Roca-Ayats N, Martínez-Gil N, Cozar M, Gerousi M, Garcia-Giralt N, Ovejero D, Mellibovsky L, Nogués X, Díez-Pérez A, Grinberg D, Balcells S. Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3. Bone. 123: 39-47. PMID 30878523 DOI: 10.1016/j.bone.2019.03.014  0.88
2018 Roca-Ayats N, Ng PY, Garcia-Giralt N, Falcó-Mascaró M, Cozar M, Abril JF, Quesada Gómez JM, Prieto-Alhambra D, Nogués X, Dunford JE, Russell RG, Baron R, Grinberg D, Balcells S, Díez-Pérez A. Functional characterization of a GGPPS variant identified in atypical femoral fracture patients and delineation of the role of GGPPS in bone-relevant cell types. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. PMID 30184270 DOI: 10.1002/jbmr.3580  0.88
2018 Martínez-Gil N, Roca-Ayats N, Monistrol-Mula A, García-Giralt N, Díez-Pérez A, Nogués X, Mellibovsky L, Grinberg D, Balcells S. Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density. Scientific Reports. 8: 10951. PMID 30026596 DOI: 10.1038/s41598-018-29242-8  0.88
2017 Roca-Ayats N, Balcells S, Garcia-Giralt N, Falcó-Mascaró M, Martínez-Gil N, Abril JF, Urreizti R, Dopazo J, Quesada-Gómez JM, Nogués X, Mellibovsky L, Prieto-Alhambra D, Dunford JE, Javaid MK, Russell RG, et al. GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates. The New England Journal of Medicine. 376: 1794-1795. PMID 28467865 DOI: 10.1056/NEJMc1612804  0.88
2017 Urreizti R, Cueto-Gonzalez AM, Franco-Valls H, Mort-Farre S, Roca-Ayats N, Ponomarenko J, Cozzuto L, Company C, Bosio M, Ossowski S, Montfort M, Hecht J, Tizzano EF, Cormand B, Vilageliu L, et al. A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. Scientific Reports. 7: 44138. PMID 28281571 DOI: 10.1038/srep44138  0.88
2016 Urreizti R, Roca-Ayats N, Trepat J, Garcia-Garcia F, Aleman A, Orteschi D, Marangi G, Neri G, Opitz JM, Dopazo J, Cormand B, Vilageliu L, Balcells S, Grinberg D. Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes. American Journal of Medical Genetics. Part A. 170: 24-31. PMID 26768331 DOI: 10.1002/ajmg.a.37418  0.32
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