Amaia Aranzasti-Lasa

Barcelona, CT, Spain

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 36 publications

NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.

NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: March 27, 2026

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

Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome.

Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 06, 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

Case Report: Hypoinsulinaemic Hypoketotic Hypoglycaemia Due to an Activating Variant in AKT2.

Case Report: Hypoinsulinaemic Hypoketotic Hypoglycaemia Due to an Activating Variant in AKT2.

Journal: Journal of clinical research in pediatric endocrinology
Published: August 11, 2025

Expanding the spectrum of NUS1-related progressive myoclonic epilepsy: a novel variant and exploratory use of metformin.

Expanding the spectrum of NUS1-related progressive myoclonic epilepsy: a novel variant and exploratory use of metformin.

Journal: Frontiers in genetics
Published: July 14, 2025

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.

Journal: European journal of human genetics : EJHG
Published: May 01, 2025

Infarct-like myocarditis in adolescents: Exploring genetic insights from diagnosis through follow-up.

Infarct-like myocarditis in adolescents: Exploring genetic insights from diagnosis through follow-up.

Journal: International journal of cardiology
Published: March 12, 2025

Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants.

Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants.

Journal: American journal of medical genetics. Part A
Published: January 05, 2025

Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome.

Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 07, 2024
Showing 1-12 of 36

Last Updated: 09/26/2026