Teresa Mattina

Catania, 95123, Italy

Last Updated: 09/26/2026

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Found 45 publications

GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.

GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.

Journal: Brain : a journal of neurology

Published: November 26, 2025

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Journal: medRxiv : the preprint server for health sciences

Published: September 10, 2024

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Journal: Cell

Published: August 19, 2024

A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery.

A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery.

Journal: medRxiv : the preprint server for health sciences

Published: June 10, 2024

A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery.

A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery.

Journal: HGG advances

Published: May 29, 2024

A Missense Variant Affecting the N-Terminal Domain of the Laminin-332 β3 Chain Results in a Distinct Form of Junctional Epidermolysis Bullosa With Altered Granulation Tissue Response and No New Blistering: A Second Family Report.

A Missense Variant Affecting the N-Terminal Domain of the Laminin-332 β3 Chain Results in a Distinct Form of Junctional Epidermolysis Bullosa With Altered Granulation Tissue Response and No New Blistering: A Second Family Report.

Journal: Pediatric dermatology

Published: February 21, 2024

Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants.

Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants.

Journal: Frontiers in genetics

Published: June 23, 2023

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.

Journal: medRxiv : the preprint server for health sciences

Published: June 09, 2023

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.

Journal: American journal of human genetics

Published: May 17, 2023

Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome.

Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome.

Journal: European journal of medical genetics

Published: December 10, 2022

Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association.

Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association.

Journal: BMC medical genomics

Published: November 29, 2022

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.

Journal: American journal of medical genetics. Part A

Published: August 22, 2022

Showing 1-12 of 45

Last Updated: 09/26/2026