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Cancers|August 12, 2022
Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic VariantsLeila Cabral de Almeida Cardoso, Alejandro Parra, Cristina Ríos Gil, et al.
European Journal of Human Genetics : EJHG|September 30, 2025
N-terminal truncating variants in CACNB1 cause a new congenital muscular disorderAsier Iturrate, Nurit Assia Batzir, Ranit Jaron, et al.
Frontiers in Medicine|December 12, 2025
Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in FAM83GMónica Mora-Gómez, Marta Feito, Natalia Gallego-Zazo, et al.
Genes|September 28, 2024
Mortality in Patients with 22q11.2 RearrangementsMelisa Cilio Arroyuelo, Jair Tenorio-Castano, Luis Fernández García-Moya, et al.
Frontiers in Medicine|March 2, 2026
Correction: Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in FAM83GMónica Mora-Gómez, Marta Feito, Natalia Gallego-Zazo, et al.
Clinical Genetics|August 2, 2024
Identification of copy-number variants in patients with overgrowth disordersAlejandro Parra, Jair Tenorio-Castano, Julián Nevado, et al.
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.
Revista Espanola De Cardiologia (English Ed.)|November 18, 2017
In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular PhenotypeLuis Fernández, Jair Tenorio, Coral Polo-Vaquero, et al.
Plos One|April 30, 2020
Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4Ignacio Hernandez-Gonzalez, Jair Tenorio, Julian Palomino-Doza, 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.
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