Publicaciones
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Pijuan-Marquilles J, Vilanova-Adell A, Casas-Alba D, Campistol-Plana J, Hoenicka J and Palau F.
Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants
CLINICAL GENETICS . 105(3): 340-342.
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Brooks D, Burke E, Lee S, Eble TN, O'Leary M, Osei-Owusu I, Rehm HL, Dhar SU, Emrick L, Bick D, Nehrebecky M, Macnamara E, Casas-Alba D, Armstrong-Moron J, Prat-Torres CS, Martinez-Monseny T, Palau F, Liu P, Adams D, Lalani S, Rosenfeld JA and Burrage LC.
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies
HUMAN GENETICS . 143(3): 279-291. Nº de citas: 6
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Ferri-Rufete D, López A, Casas-Alba D, Cuadras-Palleja D, Palau F and Martinez-Monseny T.
Clinical Genetics Assessment Triangle (CGAT): A simple tool to identify patients with genetic conditions
European Journal of Medical Genetics . 66(11): 104858-104858. Nº de citas: 1
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Martinez-Cayuelas E, Blanco-Kelly F, Lopez-Grondona F, Swafiri ST, Lopez-Rodriguez R, Losada-Del Pozo R, Mahillo-Fernandez I, Moreno B, Rodrigo-Moreno M, Casas-Alba D, López A, García-Miñaúr S, Ángeles Mori M, Pacio-Minguez M, Rikeros-Orozco E, Santos-Simarro F, Cruz-Rojo J, Quesada-Espinosa JF, Sanchez-Calvin MT, Sanchez-Del Pozo J, Bernado Fonz R, Isidoro-Garcia M, Ruiz-Ayucar I, Alvarez-Mora MI, Blanco-Lago R, De Azua B, Eiris J, Garcia-Peñas JJ, Gil-Fournier B, Gomez-Lado C, Irazabal N, Lopez-Gonzalez V, Madrigal I, Malaga I, Martinez-Menendez B, Ramiro-Leon S, Garcia-Hoyos M, Prieto-Matos P, Lopez-Pison J, Aguilera-Albesa S, Alvarez S, Fernández-Jaén A, Llano-Rivas I, Gener-Querol B, Ayuso C, Arteche-Lopez A, Palomares-Bralo M, Cueto-González A, Valenzuela I, Martinez-Monseny T, Lorda-Sanchez I and Almoguera B.
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
JOURNAL OF MEDICAL GENETICS . 60(7): 644-654. Nº de citas: 19
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Casas-Alba D, Aguilar A, Alonso I, García MT, Cilio MR and Fons-Estupina C.
Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy
PEDIATRIC NEUROLOGY . 144: 11-15. Nº de citas: 3
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Vega-Hanna L, Sanz-Cuesta M, Casas-Alba D, Bolasell M, Martorell-Sampol L, Pias-Peleteiro LD, Lucia FA, Martinez-Monseny T and Serrano M.
Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study
Frontiers in Pediatrics . 11: 1184529-1184529. Nº de citas: 5
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Vos N, Reilly J, Elting MW, Campeau PM, Coman D, Stark Z, Tan TY, Amor DJ, Kaur S, StJohn M, Morgan AT, Kamien BA, Patel C, Tedder ML, Merla G, Prontera P, Castori M, Muru K, Collins F, Christodoulou J, Smith J, Zeev BB, Murgia A, Leonardi E, Esber N, Martinez-Monseny T, Casas-Alba D, Wallis M, Mannens M, Levy MA, Relator R, Alders M and Sadikovic B.
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants
Epigenomics . 15(6): 351-368. Nº de citas: 8
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Casas-Alba D, Oliva C, Salgado MDC, Codina-Bergadà A, Agut-Quijano T, García-Alix A, Garcia-Puig M, Garcia-Cazorla A, Taglialatela M, Jou-Munoz C, Artuch-Iriberri R and Fons-Estupina C.
Cerebrospinal Fluid Ion Analysis in Neonatal Seizures
PEDIATRIC NEUROLOGY . 128: 16-19. Nº de citas: 2
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Casas-Alba D, Hoenicka J, Vilanova-Adell A, Vega-Hana L, Pijuan-Marquilles J and Palau F.
Diagnostic strategies in patients with undiagnosed and rare diseases
Journal of Translational Genetics and Genomics . 6(3): 322-332. Nº de citas: 6
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Martinez-Monseny T, Edo A, Casas-Alba D, Izquierdo-Serra M, Bolasell M, Conejo D, Martorell-Sampol L, Muchart-Lopez J, Carrera-García L, Ortez-Gonzalez CI, Nascimento-Osorio A, Oliva B, Fernández-Fernández JM and Serrano M.
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(10): 5180. Nº de citas: 14
