Juan P. Quintero-Trujillo

Sabadell, CT, Spain

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 18 publications

Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management.

Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management.

Journal: Human genomics

Published: August 06, 2025

A Novel RHEB Germline Variant Associated With Intellectual Disability and Epilepsy: Expanding the Spectrum of mTORopathies.

A Novel RHEB Germline Variant Associated With Intellectual Disability and Epilepsy: Expanding the Spectrum of mTORopathies.

Journal: Clinical genetics

Published: December 16, 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

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.

Journal: American journal of human genetics

Published: August 27, 2024

Prognostic significance of mutation type and chromosome fragility in Fanconi anemia.

Prognostic significance of mutation type and chromosome fragility in Fanconi anemia.

Journal: American journal of hematology

Published: July 24, 2024

Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction.

Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction.

Journal: Circulation. Genomic and precision medicine

Published: February 14, 2024

Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay.

Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay.

Journal: Molecular psychiatry

Published: January 13, 2024

Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome.

Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome.

Journal: Frontiers in genetics

Published: September 08, 2023

High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.

High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.

Journal: Genes

Published: February 16, 2023

Natural gene therapy by reverse mosaicism leads to improved hematology in Fanconi anemia patients.

Natural gene therapy by reverse mosaicism leads to improved hematology in Fanconi anemia patients.

Journal: American journal of hematology

Published: February 17, 2021

Shprintzen-Goldberg syndrome and aortic dilatation: apropos of 2 new cases.

Shprintzen-Goldberg syndrome and aortic dilatation: apropos of 2 new cases.

Journal: Revista espanola de cardiologia (English ed.)

Published: July 23, 2020

Identification by next-generation sequencing of 2 novel cases of noncompaction cardiomyopathy associated with 1p36 deletions.

Identification by next-generation sequencing of 2 novel cases of noncompaction cardiomyopathy associated with 1p36 deletions.

Journal: Revista espanola de cardiologia (English ed.)

Published: October 04, 2019

Showing 1-12 of 18

Last Updated: 09/26/2026