Maria C. Bonaglia-Zucca

Bosisio Parini, 23842, Italy

Last Updated: 09/26/2026

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Found 38 publications

TRAPPC9-Related Intellectual Developmental Disorder: A Systematic Review and a Novel Case of a Complex Structural Variant.

TRAPPC9-Related Intellectual Developmental Disorder: A Systematic Review and a Novel Case of a Complex Structural Variant.

Journal: Genes

Published: May 10, 2026

Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy.

Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy.

Journal: Genes

Published: October 21, 2025

Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case.

Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case.

Journal: European journal of human genetics : EJHG

Published: March 11, 2025

Small Complex Rearrangement in HINT1-Related Axonal Neuropathy.

Small Complex Rearrangement in HINT1-Related Axonal Neuropathy.

Journal: Genes

Published: October 29, 2024

Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders.

Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG

Published: November 29, 2023

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

Editorial: Towards a European consensus guideline for Phelan-McDermid syndrome.

Editorial: Towards a European consensus guideline for Phelan-McDermid syndrome.

Journal: European journal of medical genetics

Published: February 22, 2023

Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22.

Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22.

Journal: European journal of medical genetics

Published: December 12, 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

Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes.

Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes.

Journal: Genes & genomics

Published: October 10, 2022

Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion.

Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion.

Journal: European journal of medical genetics

Published: June 13, 2022

Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.

Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.

Journal: Cerebellum (London, England)

Published: November 22, 2021

Showing 1-12 of 38

Last Updated: 09/26/2026