Publications by authors named "Mario Cazalla"

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Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in .
Mónica Mora-Gómez, Marta Feito, Natalia Gallego-Zazo, Rocío Maseda-Pedrero, Tristán G Sobral-Costas, Mario Cazalla

Front Med (Lausanne)· December 2025

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Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases.
Leonardo Chimirri, J Harry Caufield, Yasemin Bridges, Nicolas Matentzoglu, Michael Gargano, Mario Cazalla

EBioMedicine· November 2025

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A Novel Deep Intronic Variant in NSD1 Causing Sotos Syndrome.
Alejandro Parra, Mario Cazalla, Juan A Jimenez-Estrada, Cristina Silván, Lucía Miranda-Alcaraz

Am J Med Genet A· August 2025

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Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome.
Alejandro Parra, Juan A Jimenez-Estrada, Valeria Vásquez-Amell, Mario Cazalla, Manuel Rodríguez-Canó

Clin Genet· August 2025

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AMOTL1 -Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities.
Natalia Gallego-Zazo, Jair Tenorio-Castano, Alejandro Parra, Julián Nevado, Mario Cazalla

Clin Genet· February 2025

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Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases.
Leonardo Chimirri, J Harry Caufield, Yasemin Bridges, Nicolas Matentzoglu, Michael Gargano, Mario Cazalla

medRxiv· February 2025

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Non-immune hydrops fetalis is associated with bi-allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene.
Jair Tenorio-Castano, Elena Mansilla Aparicio, Fe Amalia García Santiago, Cherise M Klotz, Rita María Regojo, Mario Cazalla

Clin Genet· December 2024

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Identification of copy-number variants in patients with overgrowth disorders.
Alejandro Parra, Jair Tenorio-Castano, Julián Nevado, Mario Cazalla, Lucía Miranda-Alcaraz

Clin Genet· November 2024

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Comprehensive Screening of Genetic Variants in the Coding Region of in Severe Hemophilia A Reveals a Relationship with Disease Severity in a Colombian Cohort.
Samuel Sarmiento Doncel, Ronald Guillermo Peláez, Pablo Lapunzina, Fernando F Corrales-Medina, Gina Alejandra Díaz Mosquera, Mario Cazalla

Life (Basel)· August 2024

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Mortality in Patients with 22q11.2 Rearrangements.
Melisa Cilio Arroyuelo, Jair Tenorio-Castano, Luis Fernández García-Moya, Alejandro Parra, Mario Cazalla

Genes (Basel)· August 2024

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[Multiple endocrine neoplasia and very early onset inflammatory bowel disease. An unexpected association].
Santiago I Rossi, Silvia Baleani, Ximena Prado, Carolina Pascual, Cecilia Tennina, Mario Cazalla

Medicina (B Aires)· April 2024

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Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.
Alejandro Parra, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo

Clin Genet· February 2024

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Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency.
Jair Tenorio-Castano, Ángela Sánchez-Algaba Gómez, Mónica Coronado, Pilar Rodríguez-Martín, Alejandro Parra, Mario Cazalla

Clin Genet· December 2023

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Seven Additional Patients with Related Pulmonary Arterial Hypertension and Review of the Literature.
Natalia Gallego-Zazo, Lucía Miranda-Alcaraz, Alejandro Cruz-Utrilla, María Jesús Del Cerro Marín, María Álvarez-Fuente, Mario Cazalla

Genes (Basel)· October 2023

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Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in and Literature Review.
Patricia Pascual, Jair Tenorio-Castano, Cyril Mignot, Alexandra Afenjar, Pedro Arias, Mario Cazalla

Genes (Basel)· August 2023

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Clinical Heterogeneity and Different Phenotypes in Patients with Variants: 18 New Patients and Review of the Literature.
Alejandro Parra, Rachel Rabin, John Pappas, Patricia Pascual, Mario Cazalla

Genes (Basel)· May 2023

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