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Clinical Genetics|January 21, 2022
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiativeJuan Luque, Ingrid Mendes, Beatriz Gómez, et al.
Orphanet Journal of Rare Diseases|January 28, 2025
Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the "acERca las enfermedades raras" projectJosé Hernández-Rodríguez, Fernando Martínez-Valle, Xènia Acebes, et al.
American Journal of Human Genetics|May 25, 2010
Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritabilityFeng Zhang, Pavel Seeman, Pengfei Liu, et al.
Epilepsia|April 9, 2020
Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterizationDaniel Natera-de Benito, Jordi Muchart, Debora Itzep, et al.
Human Genetics|March 7, 2024
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomaliesDaniel Brooks, Elizabeth Burke, Sukyeong Lee, et al.
The Journal of Molecular Diagnostics : JMD|May 15, 2022
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare DiseasesGemma Bullich, Leslie Matalonga, Montserrat Pujadas, et al.
American Journal of Medical Genetics. Part A|March 15, 2019
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findingsLaura Carrera-García, Daniel Natera-de Benito, Klaus Dieterich, et al.
Annals of Neurology|August 15, 2025
Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth DiseaseBerta Estévez-Arias, Siiri Sarv, Nathalie Bonello-Palot, et al.
European Journal of Human Genetics : EJHG|September 27, 2024
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseasesBerta Estévez-Arias, Leslie Matalonga, Delia Yubero, et al.
Journal of Clinical Medicine|January 13, 2019
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial DiseaseCristina Jou, Juan D Ortigoza-Escobar, Maria M O'Callaghan, et al.
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