Anna Cereda

Bergamo, Italy

Last Updated: 09/26/2026

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Found 50 publications

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

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

Published: June 23, 2025

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

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

Published: June 23, 2025

Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.

Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.

Journal: Frontiers in immunology

Published: March 24, 2025

First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.

First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.

Journal: Clinical genetics

Published: February 21, 2025

Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter.

Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter.

Journal: Orphanet journal of rare diseases

Published: November 15, 2024

Inferring disease course from differential exon usage in the wide titinopathy spectrum.

Inferring disease course from differential exon usage in the wide titinopathy spectrum.

Journal: Annals of clinical and translational neurology

Published: July 23, 2024

Double somatic mosaicism in Cornelia de Lange syndrome.

Double somatic mosaicism in Cornelia de Lange syndrome.

Journal: American journal of medical genetics. Part A

Published: October 26, 2023

Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.

Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.

Journal: Molecular genetics & genomic medicine

Published: June 04, 2023

ARF1-related disorder: phenotypic and molecular spectrum.

ARF1-related disorder: phenotypic and molecular spectrum.

Journal: Journal of medical genetics

Published: August 09, 2022

Celiac disease prevalence and predisposing-HLA in a cohort of 93 Williams-Beuren syndrome patients.

Celiac disease prevalence and predisposing-HLA in a cohort of 93 Williams-Beuren syndrome patients.

Journal: American journal of medical genetics. Part A

Published: July 25, 2022

Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients.

Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients.

Journal: Genes

Published: June 20, 2022

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.

Journal: HGG advances

Published: May 23, 2022

Showing 1-12 of 50

Last Updated: 09/26/2026