Publications
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Urreizti R, Lopez-Martin E, Martinez-Monseny T, Pujadas M, Castilla-Vallmanya L, Pérez-Jurado LA, Serrano M, Natera-de Benito D, Martínez-Delgado B, Posada-de-la-Paz M, Alonso J, Marin-Reina P, O'Callaghan-Gordo M, Grinberg-Vaisman DR, Bermejo-Sánchez E and Balcells S.
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
ORPHANET JOURNAL OF RARE DISEASES . 15(1): 44-44. Number of citations: 16
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De-Ugarte, L, Balcells S, Guerri-Fernandez, R, Grinberg-Vaisman DR, Diez-Perez, A, Nogues, X and Garcia-Giralt, N.
Effect of the Tumor Suppressor miR-320a on Viability and Functionality of Human Osteosarcoma Cell Lines Compared to Primary Osteoblasts
APPLIED SCIENCES-BASEL . 10(8): . Number of citations: 1
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Leon E, Diaz J, Castilla-Vallmanya L, Grinberg-Vaisman DR, Balcells S and Urreizti R.
Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 182(1): 201-204. Number of citations: 5
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Serra-Vinardell J, Roca N, De-Ugarte L, Vilageliu L, Balcells S and Grinberg-Vaisman DR.
Bone development and remodeling in metabolic disorders.
JOURNAL OF INHERITED METABOLIC DISEASE . 43(1): 133-144. Number of citations: 10
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Urreizti R, Mayer K, Evrony GD, Said E, Castilla-Vallmanya L, Cody NAL, Plasencia G, Gelb BD, Grinberg-Vaisman DR, Brinkmann U, Webb BD and Balcells S.
DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.
EUROPEAN JOURNAL OF HUMAN GENETICS . 28(1): 64-75. Number of citations: 10
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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: 9
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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: 5
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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: 21
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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: 17
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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-BRITISH MEDICAL JOURNAL . 362: . Number of citations: 158