Alejandro J. Fernandez-Brea

Santiago De Compostela, GA, Spain

Last Updated: 09/26/2026

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Found 20 publications

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

Comparison of the ABC and ACMG systems for variant classification.

Comparison of the ABC and ACMG systems for variant classification.

Journal: European journal of human genetics : EJHG

Published: December 19, 2023

Developmental epileptic encephalopathy in DLG4-related synaptopathy.

Developmental epileptic encephalopathy in DLG4-related synaptopathy.

Journal: Epilepsia

Published: October 13, 2023

Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders.

Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders.

Journal: Cytogenetic and genome research

Published: July 19, 2023

Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.

Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.

Journal: European journal of human genetics : EJHG

Published: November 29, 2021

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Journal: Brain : a journal of neurology

Published: May 16, 2019

Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy.

Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy.

Journal: Journal of human genetics

Published: April 29, 2019

Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders.

Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders.

Journal: American journal of medical genetics. Part A

Published: June 13, 2018

Candidate predisposing germline copy number variants in early onset colorectal cancer patients.

Candidate predisposing germline copy number variants in early onset colorectal cancer patients.

Journal: Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico

Published: May 31, 2016

Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer.

Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer.

Journal: Gastroenterology

Published: April 05, 2016

The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.

The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.

Journal: European journal of human genetics : EJHG

Published: November 16, 2015

Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer.

Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer.

Journal: Journal of medical genetics

Published: February 17, 2015

Showing 1-12 of 20

Last Updated: 09/26/2026