Research Explorer

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Researcher

Mauro Milazzo

Publications & Research Data

Awards & Distinctions

7 Results

2025

DNA sample tracking for diagnostic exome sequencing - a 1-year experience

Peter N. D. CeulemansMatthias De SmetTom SanteGertjan WilsThalia Van LaethemMauro Alessio MilazzoJo VandesompeleFrauke CoppietersSteve LefeverBrecht Guillemyn et al.

U Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

2024

Bmpr1aa modulates the severity of the skeletal phenotype in an fkbp10-deficient Bruck syndrome zebrafish model

Tamara JaraysehSophie DebaenstHanna De SaffelToon RosseelMauro Alessio MilazzoJan Willem BekDavid M HudsonFilip Van NieuwerburghYannick GansemansIván Josipovic et al.

A1 Journal Article in JOURNAL OF BONE AND MINERAL RESEARCH

2023

Deciphering phenotypic and mechanistic variability in Bruck syndrome and Osteogenesis imperfecta, through a zebrafish model with loss of fkbp10

Tamara JaraysehHanna De SaffelToon RosseelMauro Alessio MilazzoSophie DebaenstPaul Eckhard WittenAndy WillaertPaul Coucke

Identification of modifier genes underlying intra-familial phenotypic variability in zebrafish OI models using whole exome sequencing and linkage analysis

Tamara JaraysehAdelbert De ClercqToon RosseelMauro Alessio MilazzoAndy WillaertPaul Coucke

2022

Performance Evaluation of Three DNA Sample Tracking Tools in a Whole Exome Sequencing Workflow

Gertjan WilsCeline HelsmoortelPieter-Jan VoldersInge VereeckeMauro Alessio MilazzoJo VandesompeleFrauke CoppietersKim De LeeneerSteve Lefever

U Journal Article in MOLECULAR DIAGNOSIS & THERAPY

Risk of malignant hyperthermia in patients carrying a variant in the skeletal muscle ryanodine receptor 1 gene

Lise JanssensJoris De PuydtMauro Alessio MilazzoSofie SymoensJan De BleeckerSarah Herdewyn

A1 Journal Article in NEUROMUSCULAR DISORDERS

2021

Identification of modifier genes underlying intra-familial phenotypic variability in zebrafish OI models using whole exome sequencing (WES) and linkage analysis

Tamara JaraysehAdelbert De ClercqToon RosseelMauro Alessio MilazzoAndy WillaertPaul Coucke