Sara Alvarez

Madrid, MD, Spain

Last Updated: 09/26/2026

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Found 29 publications

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

Effect of an autism-associated KCNMB2 variant, G124R, on BK channel properties.

Effect of an autism-associated KCNMB2 variant, G124R, on BK channel properties.

Journal: Current research in physiology

Published: June 11, 2022

GIGYF1 disruption associates with autism and impaired IGF-1R signaling.

GIGYF1 disruption associates with autism and impaired IGF-1R signaling.

Journal: The Journal of clinical investigation

Published: March 02, 2022

Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism.

Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism.

Journal: Genes

Published: June 30, 2021

Bi-Allelic c.1746G>T; p.Leu582= Variants in TUBGCP4 in a Boy with Autism: Clinical Data and Literature Review.

Bi-Allelic c.1746G>T; p.Leu582= Variants in TUBGCP4 in a Boy with Autism: Clinical Data and Literature Review.

Journal: Molecular syndromology

Published: June 18, 2021

Myelodysplastic syndromes with 20q deletion: incidence, prognostic value and impact on response to azacitidine of ASXL1 chromosomal deletion and genetic mutations.

Myelodysplastic syndromes with 20q deletion: incidence, prognostic value and impact on response to azacitidine of ASXL1 chromosomal deletion and genetic mutations.

Journal: British journal of haematology

Published: March 26, 2021

Biallelic ELMO3 mutations and loss of function for DOCK-mediated RAC1 activation result in intellectual disability.

Biallelic ELMO3 mutations and loss of function for DOCK-mediated RAC1 activation result in intellectual disability.

Journal: Small GTPases

Published: March 04, 2021

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.

Journal: American journal of human genetics

Published: May 13, 2020

Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis.

Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis.

Journal: Journal of neuromuscular diseases

Published: April 26, 2020

Distinct mutational pattern of myelodysplastic syndromes with and without 5q- treated with lenalidomide.

Distinct mutational pattern of myelodysplastic syndromes with and without 5q- treated with lenalidomide.

Journal: British journal of haematology

Published: March 10, 2020

Showing 1-12 of 29

Last Updated: 09/26/2026