Matteo Bellini

Bergamo, Italy

Last Updated: 09/26/2026

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Found 11 publications

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

Genetics architecture of spontaneous coronary artery dissection in an Italian cohort.

Genetics architecture of spontaneous coronary artery dissection in an Italian cohort.

Journal: Frontiers in cardiovascular medicine

Published: August 25, 2024

Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring.

Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring.

Journal: Frontiers in neurology

Published: January 25, 2024

Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome.

Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome.

Journal: Frontiers in genetics

Published: December 19, 2023

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

A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.

A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.

Journal: European journal of human genetics : EJHG

Published: February 22, 2023

Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring.

Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring.

Journal: Frontiers in neurology

Published: October 17, 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

Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management.

Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management.

Journal: Journal of cardiovascular development and disease

Published: October 29, 2021

Massive exploration of perturbed conditions of the blood coagulation cascade through GPU parallelization.

Massive exploration of perturbed conditions of the blood coagulation cascade through GPU parallelization.

Journal: BioMed research international

Published: February 21, 2014

Showing 1-11 of 11

Last Updated: 09/26/2026