Anna M. Gonzalez-Cueto
Barcelona, CT, Spain
Last Updated: 09/26/2026
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Found 10 publications
Genotype-phenotype correlations and putative modifier genes in SYNGAP1 Encephalopathy.
Journal: Neurobiology of disease
Published: September 15, 2025
Biallelic SUPT4H1 variants cause a multisystem neurodevelopmental disorder associated with disrupted transcription.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 15, 2025
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
Functional studies in yeast confirm the pathogenicity of a new GINS3 Meier-Gorlin syndrome variant.
Journal: Clinical genetics
Published: March 27, 2024
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Journal: Journal of medical genetics
Published: June 01, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Journal: Science advances
Published: March 10, 2023
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases.
Journal: Clinical genetics
Published: March 08, 2023
PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants.
Journal: American journal of medical genetics. Part A
Published: January 07, 2023
Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient.
Journal: Human genome variation
Published: December 17, 2019
Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).
Journal: Molecular genetics & genomic medicine
Published: May 10, 2019
Showing 1-10 of 10
Last Updated: 09/26/2026