Berta Almoguera

Madrid, MD, Spain

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 64 publications

Case report: Characterization of a patient with novel biallelic variants in GTF3C3 and comprehensive review of previously reported cases.

Case report: Characterization of a patient with novel biallelic variants in GTF3C3 and comprehensive review of previously reported cases.

Journal: Frontiers in genetics

Published: April 20, 2026

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

Journal: European journal of human genetics : EJHG

Published: February 21, 2026

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.

Journal: Genome medicine

Published: December 16, 2025

Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.

Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.

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

Published: December 11, 2025

A Growth Chart for KBG Syndrome.

A Growth Chart for KBG Syndrome.

Journal: American journal of medical genetics. Part A

Published: November 07, 2025

Accurate and cost-effective workflow integrating trio pooled-WES for novel gene discovery in neurodevelopmental disorders.

Accurate and cost-effective workflow integrating trio pooled-WES for novel gene discovery in neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG

Published: July 16, 2025

Pharmacogenomic Study of SARS-CoV-2 Treatments: Identifying Polymorphisms Associated with Treatment Response in COVID-19 Patients.

Pharmacogenomic Study of SARS-CoV-2 Treatments: Identifying Polymorphisms Associated with Treatment Response in COVID-19 Patients.

Journal: Biomedicines

Published: December 13, 2024

Complex Multifocal Dystonia, Intellectual Disability, and Stereotypies Due to a Novel DYRK1A Variant.

Complex Multifocal Dystonia, Intellectual Disability, and Stereotypies Due to a Novel DYRK1A Variant.

Journal: Movement disorders clinical practice

Published: October 29, 2024

Novel risk loci for COVID-19 hospitalization among admixed American populations.

Novel risk loci for COVID-19 hospitalization among admixed American populations.

Journal: eLife

Published: October 03, 2024

The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders.

The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders.

Journal: European journal of human genetics : EJHG

Published: August 22, 2024

A unique missense mutation in the RING domain impairs MID1 E3 ubiquitin ligase activity and localisation and is associated with uncommon Opitz Syndrome-like signs.

A unique missense mutation in the RING domain impairs MID1 E3 ubiquitin ligase activity and localisation and is associated with uncommon Opitz Syndrome-like signs.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: February 17, 2024

Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome.

Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome.

Journal: Journal of medical genetics

Published: January 08, 2024

Showing 1-12 of 64

Last Updated: 09/26/2026