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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.
Schizophrenia Research|August 16, 2014
Replication of previous genome-wide association studies of psychiatric diseases in a large schizophrenia case-control sample from SpainJosé Luis Ivorra, Olga Rivero, Javier Costas, et al.
American Journal of Medical Genetics. Part A|September 13, 2021
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobinCharlotte von der Lippe, Kristian Tveten, Trine E Prescott, et al.
Acta Neuropathologica|February 17, 2023
Variants in DTNA cause a mild, dominantly inherited muscular dystrophyAndres Nascimento, Christine C Bruels, Sandra Donkervoort, et al.
Brain Communications|October 3, 2025
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new casesNatalia Juliá-Palacios, Gerard Muñoz-Pujol, Reza Maroofian, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 30, 2019
The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic InsightSara Bandres-Ciga, Sarah Ahmed, Marya S Sabir, et al.
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