Marta Miguez-Pacio

Madrid, MD, Spain

Last Updated: 09/26/2026

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Found 16 publications

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

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

YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.

YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 10, 2022

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 23, 2022

Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study.

Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study.

Journal: International journal of molecular sciences

Published: March 22, 2022

Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.

Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.

Journal: American journal of medical genetics. Part A

Published: October 05, 2021

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 15, 2021

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.

Journal: Human mutation

Published: June 03, 2021

Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review.

Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review.

Journal: Genes

Published: April 08, 2021

ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.

ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.

Journal: American journal of medical genetics. Part A

Published: March 01, 2021

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.

Journal: American journal of human genetics

Published: January 20, 2021

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 09, 2020

Showing 1-12 of 16

Last Updated: 09/26/2026