Publications
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Roca N, Martinez-Gil N, Cozar M, Gerousi M, Garcia-Giralt N, Ovejero D, Mellibovsky L, Nogués X, Díez-Pérez A, Grinberg-Vaisman DR and Balcells S.
Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3.
Bone . 123: 39-47. Number of citations: 10
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Mason S, Castilla-Vallmanya L, James C, Andrews PI, Balcells S, Grinberg-Vaisman DR, Kirk EP and Urreizti R.
Case report of a child bearing a novel deleterious splicing variant in PIGT
Medicine . 98(8): . Number of citations: 7
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Roca 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-Vaisman DR, Balcells S and 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 . 33(12): 2091-2098. Number of citations: 23
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De-Ugarte L, Balcells S, Nogues X, Grinberg-Vaisman DR, Diez-Perez A and Garcia-Giralt N.
Pro-osteoporotic miR-320a impairs osteoblast function and induces oxidative stress.
PLoS One . 13(11): . Number of citations: 22
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Trajanoska K, Morris JA, Oei L, Zheng HF, Evans DM, Kiel DP, Ohlsson C, Richards JB, Rivadeneira F and GEFOS/GENOMOS consortium and the 23andMe research team.
Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study.
BMJ (Clinical research ed.) . 362: . Number of citations: 186
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Urreizti R, Gürsoy S, Castilla-Vallmanya L, Cunill G, Rabionet-Janssen R, Erçal D, Grinberg-Vaisman DR and Balcells S.
The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome.
clinical case reports . 6(8): 1452-1456. Number of citations: 4
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Martinez-Gil N, Roca N, Monistrol-Mula A, García-Giralt N, Díez-Pérez A, Nogués X, Mellibovsky L, Grinberg-Vaisman DR and Balcells S.
Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density.
SCIENTIFIC REPORTS . 8(1): 10951-10951. Number of citations: 15
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Cammarata-Scalisi F, Stock F, Avendaño A, Cozar M, Balcells S and Grinberg-Vaisman DR.
Estudio clínico y molecular en una familia con osteocondromatosis mltiple.
Acta ortopédica mexicana . 32(2): 108-111.
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Urreizti R, Damanti S, Esteve-Matanza C, Franco-Valls H, Castilla-Vallmanya L, Tonda R, Cormand B, Vilageliu L, Opitz JM, Neri G, Grinberg-Vaisman DR and Balcells S.
A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome
SCIENTIFIC REPORTS . 8: 694-694. Number of citations: 11
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De-Ugarte L, Serra-Vinardell J, Nonell L, Balcells S, Arnal M, Nogues X, Mellibovsky L, Grinberg-Vaisman DR, Diez-Perez A and Garcia-Giralt N.
Expression profiling of microRNAs in human bone tissue from postmenopausal women.
Human Cell . 31(1): 33-41. Number of citations: 12