Marta Garcia-Moreno

Madrid, MD, Spain

Last Updated: 09/26/2026

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Found 12 publications

Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.

Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.

Journal: Neuropediatrics

Published: September 20, 2022

Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review.

Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review.

Journal: Genes

Published: August 01, 2022

Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.

Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.

Journal: International journal of molecular sciences

Published: March 15, 2022

Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling.

Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling.

Journal: European journal of medical genetics

Published: October 24, 2021

First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.

First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.

Journal: Neurogenetics

Published: April 03, 2021

Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.

Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.

Journal: Genes

Published: February 25, 2021

A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome.

A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome.

Journal: Journal of pediatric genetics

Published: September 24, 2020

Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2.

Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2.

Journal: European journal of human genetics : EJHG

Published: September 17, 2020

First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection.

First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection.

Journal: American journal of medical genetics. Part A

Published: July 16, 2020

Infantile epileptic encephalopathy: a good genetic study should be a priority

Infantile epileptic encephalopathy: a good genetic study should be a priority

Journal: Revista de neurologia

Published: April 27, 2018

Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield.

Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield.

Journal: BioMed research international

Published: January 17, 2018

Phenotypic variability of the 1q21.1 microdeletion syndrome in members of the same family: relevance of detection of neuropsychiatric disorders for diagnosis of genetic syndromes

Phenotypic variability of the 1q21.1 microdeletion syndrome in members of the same family: relevance of detection of neuropsychiatric disorders for diagnosis of genetic syndromes

Journal: Revista de neurologia

Published: December 15, 2015

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Last Updated: 09/26/2026