Publicacions
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Zarate YA, Bosanko KA, Thomas MA, Miller DT, Cusmano-Ozog K, Martinez-Monseny T, Curry CJ, Graham JM Jr, Velsher L, Bekheirnia MR, Seidel V, Dedousis D, Mitchell AL, DiMarino AM, Riess A, Balasubramanian M, Fish JL, Caffrey AR, Fleischer N, Pierson TM and Lacro RV.
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
CLINICAL GENETICS . 99(4): 547-557. Nº de cites: 11
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Batlle C, Calvo I, Iglesias V, J Lynch C, Gil-Garcia M, Serrano M and Ventura S.
MED15 prion-like domain forms a coiled-coil responsible for its amyloid conversion and propagation.
Communications Biology . 4(1): 414-414. Nº de cites: 11
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Natera-de Benito D, Ortez-Gonzalez CI, Jou-Munoz C, Jimenez-Mallebrera C, Codina-Bergadà A, Carrera-García L, Exposito-Escudero JM, César-Díaz S, Martorell-Sampol L, Gallano P, Gonzalez-Quereda L, Cuadras-Palleja D, Colomer J, Yubero-Siles D, Palau F and Nascimento-Osorio A.
The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort
PEDIATRIC NEUROLOGY . 115: 50-65. Nº de cites: 14
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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. Nº de cites: 41
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Pijuan-Marquilles J, Rodríguez-Sanz M, Natera-de Benito D, Ortez-Gonzalez CI, Altimir A, Osuna-Lopez M, Roura-Llerda M, Ugalde M, Van de Vondel L, Reina-Castillon J, Fons-Estupina C, Benítez R, Nascimento-Osorio A, Hoenicka J and Palau F.
Translational Diagnostics An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare Diseases
JOURNAL OF MOLECULAR DIAGNOSTICS . 23(1): 71-90. Nº de cites: 9
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Casas-Alba D, López-Sala L, Pérez M, Marí-Vico R, Bolasell M, Martinez-Monseny T, Muchart-Lopez J, Fernández-Fernández JM, Martorell-Sampol L and Serrano M.
Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 185(1): 256-260. Nº de cites: 4
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Esquerda-Areste M, Palau F, Lorenzo D, Cambra-Lasaosa FJ, Bofarull M, Cusi V and Grup Interdisciplinar En Bioetica G.
Ethical questions concerning newborn genetic screening
CLINICAL GENETICS . 99(1): 93-98. Nº de cites: 11
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Paules C, Youssef L, Miranda J, Crovetto F, Estanyol JM, Fernandez-Isern G, Crispi F and Gratacós E.
Maternal proteomic profiling reveals alterations in lipid metabolism in late-onset fetal growth restriction
SCIENTIFIC REPORTS . 10(1): 21033-21033. Nº de cites: 17
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Vega-García N, Benito R, Esperanza-Cebollada E, Llop M, Robledo C, Vicente-Garces C, Alonso J, Barragán E, Fernandez-Isern G, Hernández-Sánchez JM, Martín-Izquierdo M, Maynou-Fernández J, Minguela A, Montaño A, Ortega M, Torrebadell-Burriel M, Cervera J, Sánchez J, Jiménez-Velasco A, Riesco S, Hernández-Rivas JM, Lassaletta Á, Fernández JM, Rives-Solà S, Dapena JL, Ramírez M and Camós-Guijosa M.
Helpful Criteria When Implementing NGS Panels in Childhood Lymphoblastic Leukemia
Journal of Personalized Medicine . 10(4): 244. Nº de cites: 1
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Batlle C and Ventura S.
Prion-like domain disease-causing mutations and misregulation of alternative splicing relevance in limb-girdle muscular dystrophy (LGMD) 1G
NEURAL REGENERATION RESEARCH . 15(12): 2239-2240. Nº de cites: 5