Sixto Minaur-Garcia

La Paz, MD, Spain

Last Updated: 09/26/2026

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Found 82 publications

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.

Journal: medRxiv : the preprint server for health sciences

Published: March 27, 2026

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.

Journal: medRxiv : the preprint server for health sciences

Published: March 27, 2026

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

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

Risk of meningomyelocele mediated by the common 22q11.2 deletion.

Risk of meningomyelocele mediated by the common 22q11.2 deletion.

Journal: Science (New York, N.Y.)

Published: May 02, 2024

Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.

Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.

Journal: American journal of obstetrics and gynecology

Published: June 15, 2023

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.

Journal: Journal of medical genetics

Published: June 01, 2023

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

Journal: The Journal of clinical investigation

Published: April 06, 2023

Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.

Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.

Journal: Genes

Published: February 19, 2023

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.

Journal: NPJ genomic medicine

Published: February 10, 2023

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions.

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions.

Journal: Genes

Published: November 21, 2022

Showing 1-12 of 82

Last Updated: 09/26/2026