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Medicina|April 29, 2024
[Multiple endocrine neoplasia and very early onset inflammatory bowel disease. An unexpected association]Santiago I Rossi, Silvia Baleani, Ximena Prado, et al.
Clinical Genetics|October 31, 2023
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorderAlejandro Parra, Patricia Pascual, Mario Cazalla, et al.
Clinical Genetics|September 13, 2023
Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiencyJair Tenorio-Castano, Ángela Sánchez-Algaba Gómez, Mónica Coronado, et al.
Life (Basel, Switzerland)|August 29, 2024
Comprehensive Screening of Genetic Variants in the Coding Region of F8 in Severe Hemophilia A Reveals a Relationship with Disease Severity in a Colombian CohortSamuel Sarmiento Doncel, Ronald Guillermo Peláez, Pablo Lapunzina, et al.
Clinical Genetics|November 14, 2024
AMOTL1 -Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver AbnormalitiesNatalia Gallego-Zazo, Jair Tenorio-Castano, Alejandro Parra, et al.
American Journal of Medical Genetics. Part A|April 3, 2025
A Novel Deep Intronic Variant in NSD1 Causing Sotos SyndromeAlejandro Parra, Mario Cazalla, Juan A Jimenez-Estrada, 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.
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.
Clinical Genetics|August 2, 2024
Identification of copy-number variants in patients with overgrowth disordersAlejandro Parra, Jair Tenorio-Castano, Julián Nevado, et al.
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