Juan F. Espinosa-Quesada

Madrid, MD, Spain

Last Updated: 09/26/2026

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Found 29 publications

Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.

Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.

Journal: Clinical genetics

Published: October 02, 2024

Whole Exome Sequencing and Panel-Based Analysis in 176 Spanish Children with Neurodevelopmental Disorders: Focus on Autism Spectrum Disorder and/or Intellectual Disability/Global Developmental Delay.

Whole Exome Sequencing and Panel-Based Analysis in 176 Spanish Children with Neurodevelopmental Disorders: Focus on Autism Spectrum Disorder and/or Intellectual Disability/Global Developmental Delay.

Journal: Genes

Published: September 12, 2024

Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.

Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.

Journal: Pediatric neurology

Published: December 20, 2023

Clinical and Genetic Analysis of Patients With TK2 Deficiency.

Clinical and Genetic Analysis of Patients With TK2 Deficiency.

Journal: Neurology. Genetics

Published: December 04, 2023

Two siblings with uncombable hair syndrome: A new pathogenic variant.

Two siblings with uncombable hair syndrome: A new pathogenic variant.

Journal: Pediatric dermatology

Published: December 02, 2023

Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.

Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.

Journal: Journal of clinical immunology

Published: August 15, 2023

Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome.

Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome.

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Published: August 14, 2023

Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma.

Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma.

Journal: Genes

Published: June 25, 2023

Diagnostic yield of genetic testing in adults with sensorineural hearing loss.

Diagnostic yield of genetic testing in adults with sensorineural hearing loss.

Journal: Acta otorrinolaringologica espanola

Published: March 24, 2023

Genetic diagnosis of childhood sensorineural hearing loss.

Genetic diagnosis of childhood sensorineural hearing loss.

Journal: Acta otorrinolaringologica espanola

Published: March 24, 2023

TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies.

TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies.

Journal: The Journal of allergy and clinical immunology

Published: March 22, 2023

Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.

Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.

Journal: Neuropediatrics

Published: September 20, 2022

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Last Updated: 09/26/2026