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Genes|September 23, 2022
Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing WorkflowsJohn N Milligan, Laura Blasco-Pérez, Mar Costa-Roger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2024
Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndromeIrene Valenzuela, Marta Codina-Solà, Elida Vazquez, et al.
Journal of Medical Genetics|January 5, 2023
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couplesAnna Abulí, Mar Costa-Roger, Marta Codina-Solà, et al.
Genetics in Medicine Open|December 13, 2024
The diagnosis communication process in spinal muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic eraEulàlia Rovira-Moreno, Anna Abulí, Patricia Muñoz-Cabello, et al.
American Journal of Medical Genetics. Part A|September 8, 2020
Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1Irene Valenzuela, Marta Codina, Paula Fernández-Álvarez, et al.
European Journal of Medical Genetics|March 28, 2017
Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutationIrene Valenzuela, Paula Fernández-Alvarez, Francina Munell, et al.
Anales De Pediatria|January 14, 2026
Advanced therapies in pediatric genetic diseasesEduardo F Tizzano
Early Human Development|October 13, 2019
Treating neonatal spinal muscular atrophy: A 21st century success story?Eduardo F Tizzano
American Journal of Medical Genetics. Part A|December 11, 2021
Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2Irene Valenzuela, Elena Guillén Benítez, Angel Sanchez-Montanez, et al.
Medrxiv : the Preprint Server for Health Sciences|September 16, 2024
Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsyDaniel Greene, Koenraad De Wispelaere, Jon Lees, et al.
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