Alberto Jaen-Fernandez

Madrid, MD, Spain

Last Updated: 09/26/2026

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Found 108 publications

Correction: Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy.

Correction: Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy.

Journal: Frontiers in cell and developmental biology

Published: March 06, 2026

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: January 13, 2026

Perinatal liver sympathetic innervation governs body size.

Perinatal liver sympathetic innervation governs body size.

Journal: Communications biology

Published: October 22, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

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

Published: October 01, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

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

Published: October 01, 2025

Genotype-phenotype correlations and putative modifier genes in SYNGAP1 Encephalopathy.

Genotype-phenotype correlations and putative modifier genes in SYNGAP1 Encephalopathy.

Journal: Neurobiology of disease

Published: September 15, 2025

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Journal: American journal of human genetics

Published: August 08, 2025

Autism-associated MDGA1 missense mutations impair distinct facets of central nervous system development.

Autism-associated MDGA1 missense mutations impair distinct facets of central nervous system development.

Journal: medRxiv : the preprint server for health sciences

Published: June 30, 2025

Bazedoxifene reverses sexually dimorphic autistic-like abnormalities in biallelic MDGA1-mutant mice.

Bazedoxifene reverses sexually dimorphic autistic-like abnormalities in biallelic MDGA1-mutant mice.

Journal: EMBO molecular medicine

Published: June 09, 2025

Computerized cognitive training as a treatment for ADHD: evidence summary and future directions

Computerized cognitive training as a treatment for ADHD: evidence summary and future directions

Journal: Medicina

Published: February 28, 2025

Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.

Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.

Journal: Genome medicine

Published: November 08, 2024

Dystonia caused by ANO3 variants is due to attenuated Ca2+ influx by ORAI1.

Dystonia caused by ANO3 variants is due to attenuated Ca2+ influx by ORAI1.

Journal: BMC medicine

Published: July 07, 2024

Showing 1-12 of 108

Last Updated: 09/26/2026