Publicaciones
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Garcia-Giralt N, Ovejero D, Grinberg-Vaisman DR, Nogues X, Castañeda S, Balcells S and Rabionet-Janssen R.
Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures.
HUMAN GENOMICS . 18(1): 87-87.
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Centeno-Pla M, Alcaide-Consuegra E, Gibson S, Prat-Planas A, Gutiérrez-Ávila JD, Grinberg-Vaisman DR, Urreizti R, Rabionet-Janssen R and Balcells S.
Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome.
JOURNAL OF MEDICAL GENETICS . 61(8): 780-782. Nº de citas: 2
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Palma-Milla C, Prat-Planas A, Soengas-Gonda E, Centeno-Pla M, Sánchez-Pozo J, Lazaro-Rodriguez I, Quesada-Espinosa JF, Arteche-Lopez A, Olival J, Pacio-Miguez M, Palomares-Bralo M, Santos-Simarro F, Cancho-Candela R, Vázquez-López M, Seidel V, Martinez-Monseny T, Casas-Alba D, Grinberg-Vaisman DR, Balcells S, Serrano M, Rabionet-Janssen R, Martin MA and Urreizti R.
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review
PEDIATRIC NEUROLOGY . 155: 8-17.
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Roca N, Maceda I, Bruque CD, Martinez-Gil N, Garcia-Giralt N, Cozar M, Mellibovsky L, Van Hul W, Lao O, Grinberg-Vaisman DR and Balcells S.
Evolutionary and functional analyses of LRP5 in archaic and extant modern humans.
HUMAN GENOMICS . 18(1): 53-53.
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Castilla-Vallmanya L, Centeno-Pla M, Serrano M, Franco-Valls, H, Martinez-Cabrera, R, Prat-Planas, A, Rojano, E, Ranea, JAG, Seoane, P, Oliva-Mussara C, Paredes-Fuentes, AJ, Marfany G, Artuch-Iriberri R, Grinberg-Vaisman DR, Rabionet-Janssen R, Balcells S and Urreizti R.
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2
JOURNAL OF MEDICAL GENETICS . 60(4): 406-415. Nº de citas: 4
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López-López D, Roldán G, Fernández-Rueda JL, Bostelmann G, Carmona R, Aquino V, Perez-Florido J, Ortuño F, Pita G, Núñez-Torres R, González-Neira A, Peña-Chilet M and Dopazo J.
A crowdsourcing database for the copy-number variation of the Spanish population
HUMAN GENOMICS . 17(1): 20-20. Nº de citas: 2
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Martinez-Gil N, Patino-Salazar JD, Rabionet-Janssen R, Grinberg-Vaisman DR and Balcells S.
Genome-wide association studies (GWAS) vs functional validation: the challenge of the post-GWAS era
Revista de Osteoporosis y Metabolismo Mineral . 15(1): 29-39. Nº de citas: 1
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Ovejero D, Garcia-Giralt N, Martinez-Gil N, Rabionet-Janssen R, Balcells S, Grinberg-Vaisman DR, Pérez-Jurado L, Nogués X and Foronda IE.
Clinical description and genetic analysis of a novel familial skeletal dysplasia characterized by high bone mass and lucent bone lesions.
Bone . 161: 116450-116450. Nº de citas: 2
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Martinez-Gil N, Mellibovsky L, Manzano-López González D, Patiño JD, Cozar M, Rabionet-Janssen R, Grinberg-Vaisman DR and Balcells S.
On the association between Chiari malformation type 1, bone mineral density and bone related genes.
Bone Reports . 16: 101181-101181. Nº de citas: 4
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Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch-Iriberri R, Gallano P, Garrabou G, González JR, Grinberg-Vaisman DR, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA and Beltran S.
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases
JOURNAL OF MOLECULAR DIAGNOSTICS . 24(5): 529-542. Nº de citas: 6