Publications
-
Formosa MM, Bergen DJM, Gregson CL, Maurizi A, Kämpe A, Garcia-Giralt N, Zhou W, Grinberg-Vaisman DR, Ovejero Crespo D, Zillikens MC, Williams GR, Bassett JHD, Brandi ML, Sangiorgi L, Balcells S, Högler W, Van Hul W and Mäkitie O.
A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders.
Frontiers in Endocrinology . 12: 709711-709711. Number of citations: 8
-
Ugartondo N, Martinez-Gil N, Esteve M, Garcia-Giralt N, Roca N, Ovejero D, Nogués X, Díez-Pérez A, Rabionet-Janssen R, Grinberg-Vaisman DR and Balcells S.
Functional Analyses of Four CYP1A1 Missense Mutations Present in Patients with Atypical Femoral Fractures
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(14): 7395. Number of citations: 8
-
Griñán-Ferré C, Companys-Alemany J, Jarné-Ferrer J, Codony S, González-Castillo C, Ortuño-Sahagún D, Vilageliu L, Grinberg-Vaisman DR, Vázquez S and Pallàs M.
Inhibition of Soluble Epoxide Hydrolase Ameliorates Phenotype and Cognitive Abilities in a Murine Model of Niemann Pick Type C Disease
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(7): 3409. Number of citations: 2
-
Peña-Chilet M, Roldán G, Perez-Florido J, Ortuño FM, Carmona R, Aquino V, Lopez-Lopez D, Loucera C, Fernandez-Rueda JL, Gallego A, García-Garcia F, González-Neira A, Pita G, Núñez-Torres R, Santoyo-López J, Ayuso C, Minguez P, Avila-Fernandez A, Corton M, Moreno-Pelayo MÁ, Morin M, Gallego-Martinez A, Lopez-Escamez JA, Borrego S, Antiñolo G, Amigo J, Salgado-Garrido J, Pasalodos-Sanchez S, Morte B, Spanish Exome Crowdsourcing Consortium, Carracedo Á, Alonso Á and Dopazo J.
CSVS, a crowdsourcing database of the Spanish population genetic variability
NUCLEIC ACIDS RESEARCH . 49(D1): 1130-1137. Number of citations: 36
-
Martinez-Gil N, Roca N, Cozar M, Garcia-Giralt N, Ovejero D, Nogués X, Grinberg-Vaisman DR and Balcells S.
Genetics and Genomics of SOST: Functional Analysis of Variants and Genomic Regulation in Osteoblasts.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(2): 489. Number of citations: 7
-
Martinez-Gil N, Grinberg-Vaisman DR and Balcells S.
Search for variants of the LRP4 gene in women with high bone mass and in patients with Chiari type I malformation
Revista de Osteoporosis y Metabolismo Mineral . 13(1): 17-20. Number of citations: 1
-
Martinez-Gil N, Roca N, Atalay N, Pineda-Moncusí M, Garcia-Giralt N, Van Hul W, Boudin E, Ovejero D, Mellibovsky L, Nogués X, Díez-Pérez A, Grinberg-Vaisman DR and Balcells S.
Functional Assessment of Coding and Regulatory Variants From the DKK1 Locus.
jbmr plus . 4(12): . Number of citations: 6
-
Beneto N, Vilageliu L, Grinberg-Vaisman DR and Canals I.
Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 21(21): . Number of citations: 29
-
Dimitriou E, Moraitou M, Cozar M, Serra-Vinardell J, Vilageliu L, Grinberg-Vaisman DR, Mavridou I and Michelakakis H.
Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.
Molecular genetics and metabolism reports . 24: 100614-100614. Number of citations: 10
-
Matalonga L, Laurie S, Papakonstantinou A, Piscia D, Mereu E, Bullich G, Thompson R, Horvath R, Pérez-Jurado L, Riess O, Gut I, van Ommen GJ, Lochmüller H, Beltran S and RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors.
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity
JOURNAL OF MOLECULAR DIAGNOSTICS . 22(9): 1205-1215. Number of citations: 15