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Clinical Genetics|August 27, 2024
Non-immune hydrops fetalis is associated with bi-allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) geneJair Tenorio-Castano, Elena Mansilla Aparicio, Fe Amalia García Santiago, et al.
Clinical Genetics|May 9, 2025
Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X SyndromeAlejandro Parra, Juan A Jimenez-Estrada, Valeria Vásquez-Amell, et al.
American Journal of Medical Genetics. Part A|March 23, 2026
A New Patient With SPOUT1-Related Neurodevelopmental Disorder Identified by Genomic Data Re-Analysis: Novel Phenotypic Features and Literature ReviewTomás Valle, Alejandra Damián, Marta Torres, et al.
Clinical Epigenetics|April 26, 2026
Investigation of multilocus imprinting disturbance (MLID) in 101 Beckwith-Wiedemann spectrum patientsMario Cazalla, Alejandro Parra, Carlos Rodríguez-Antolín, et al.
Genes|October 28, 2023
Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the LiteratureNatalia Gallego-Zazo, Lucía Miranda-Alcaraz, Alejandro Cruz-Utrilla, et al.
Genes|June 28, 2023
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the LiteratureAlejandro Parra, Rachel Rabin, John Pappas, et al.
Clinical Genetics|January 23, 2026
Chromosomal Rearrangements Identified in Three Additional Patients With Generalized Congenital Hypertrichosis With Gingival Hyperplasia Involving the 17q24.2-q24.3 LocusJair Tenorio-Castano, Marta Feito, Raúl de Lucas, et al.
European Journal of Human Genetics : EJHG|March 26, 2026
Expanding the genetic burden of low-evidence genes in pulmonary arterial hypertensionLucía Miranda-Alcaraz, Mónica Mora-Gómez, Natalia Gallego-Zazo, et al.
Medrxiv : the Preprint Server for Health Sciences|March 10, 2025
Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 CasesLeonardo Chimirri, J Harry Caufield, Yasemin Bridges, et al.
Ebiomedicine|October 15, 2025
Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 casesLeonardo Chimirri, J Harry Caufield, Yasemin Bridges, et al.
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