| Psychiatric genetic counseling: A mapping exercise R Moldovan, KA McGhee, D Coviello, A Hamang, A Inglis, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 180 …, 2019 | 27 | 2019 |
| Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder S Cuinat, M Nizon, B Isidor, A Stegmann, RH van Jaarsveld, ... Genetics in Medicine 24 (8), 1774-1780, 2022 | 17 | 2022 |
| Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene. A Llauradó, E Rovira‐Moreno, M Codina‐Solà, E Martínez‐Saez, ... Clinical Genetics 103 (4), 2023 | 4 | 2023 |
| Neurogenic defects occur in LRIG2-associated urinary bladder disease C Grenier, FM Lopes, AM Cueto-González, E Rovira-Moreno, R Gander, ... Kidney International Reports 8 (7), 1417-1429, 2023 | 3 | 2023 |
| Beyond the disease itself: a cross‐cutting educational initiative for patients and families with rare diseases E Rovira‐Moreno, A Abuli, M Codina‐Sola, I Valenzuela, C Serra‐Juhe, ... Journal of Genetic Counseling 30 (3), 693-700, 2021 | 3 | 2021 |
| An Atypical Presentation of Upper Motor Neuron Predominant Juvenile Amyotrophic Lateral Sclerosis Associated with TARDBP Gene: A Case Report and Review … D Sánchez-Tejerina, JL Restrepo-Vera, E Rovira-Moreno, M Codina-Sola, ... Genes 13 (8), 1483, 2022 | 2 | 2022 |
| Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance … JL Restrepo-Vera, E Rovira-Moreno, J Ramón, M Codina-Sola, ... Journal of Human Genetics 68 (8), 527-532, 2023 | 1 | 2023 |
| An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history M Codina-Solà, L Trujillano, A Abulí, E Rovira-Moreno, P Muñoz-Cabello, ... European Journal of Human Genetics 31 (2), 223-230, 2023 | 1 | 2023 |
| muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic era E Rovira-Moreno, A Abulí, P Munoz-Cabello, M Codina-Sola, E Bailles, ... | | 2023 |
| Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related disease JL Restrepo-Vera, P Muñoz-Cabello, J Pérez-Rodon, E Rovira-Moreno, ... Neuromuscular Disorders 33 (6), 463-467, 2023 | | 2023 |
| Distal hereditary motor neuropathy due to a novel YARS1 gene pathogenic variant A Llauradó, M Gratacòs-Viñola, E Rovira-Moreno, M Codina-Solà, ... Muscle & nerve 67 (6), E22-E24, 2023 | | 2023 |
| Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples A Abulí, M Costa-Roger, M Codina-Solà, I Valenzuela, J Leno-Colorado, ... Journal of Medical Genetics 60 (6), 540-546, 2023 | | 2023 |
| The diagnosis communication process in spinal muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic era E Rovira-Moreno, A Abulí, P Muñoz-Cabello, M Codina-Solà, E Baillès, ... Genetics in Medicine Open 1 (1), 100825, 2023 | | 2023 |
| Neurogenic defects underlie functional bladder outflow tract obstruction associated with biallelic variants in LRIG2 C Grenier, FM Lopes, AM Cueto-González, E Rovira-Moreno, R Gander, ... medRxiv, 2022.12. 06.22283097, 2022 | | 2022 |
| Exploring secondary findings in a Spanish cohort of 641 patients undergoing whole exome sequencing M Codina Sola, E Rovira Moreno, A Abuli Vidal, I Valenzuela Palafoll, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 696-696, 2020 | | 2020 |
| Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era C Serra-Juhe, A Abuli Vidal, M Codina Sola, E Rovira Moreno, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1794-1794, 2019 | | 2019 |
| Autosomal dominant Kidd-null blood group with mood disorders is associated to a zinc-finger deletion at ZNF850 R Corominas, F Garcia-Sanchez, D Perez-Garcia, VP Schulz, A Balas, ... EUROPEAN JOURNAL OF HUMAN GENETICS 26, 394-394, 2018 | | 2018 |
