Fernando Simarro-Santos

Health Research Institute Of The Balearic Islands
Palma, PM, Spain

Last Updated: 09/26/2026

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Found 95 publications

Advancing clinical genetics: From research to pediatric practice.

Advancing clinical genetics: From research to pediatric practice.

Journal: Anales de pediatria

Published: February 01, 2026

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.

Journal: American journal of human genetics

Published: April 07, 2025

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.

Journal: Annals of neurology

Published: October 28, 2024

Rapid genome sequencing in neonatal and pediatric intensive care units. Evidence and current situation.

Rapid genome sequencing in neonatal and pediatric intensive care units. Evidence and current situation.

Journal: Anales de pediatria

Published: October 21, 2024

Genetic counseling in pediatrics: Clinical implications and challenges in genomic medicine.

Genetic counseling in pediatrics: Clinical implications and challenges in genomic medicine.

Journal: Anales de pediatria

Published: October 18, 2024

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

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder.

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder.

Journal: medRxiv : the preprint server for health sciences

Published: August 16, 2024

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.

Journal: American journal of human genetics

Published: August 09, 2024

Atypical noncontiguous TSC2/PKD1 gene deletions presenting as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome.

Atypical noncontiguous TSC2/PKD1 gene deletions presenting as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome.

Journal: American journal of medical genetics. Part A

Published: May 23, 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

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.

Journal: HGG advances

Published: October 20, 2023

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Journal: Nature communications

Published: September 01, 2023

Showing 1-12 of 95

Last Updated: 09/26/2026