Giulia F. Del Gobbo

Ottawa, ON, Canada

Last Updated: 09/26/2026

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Found 22 publications

MT-ATP6 variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature review.

MT-ATP6 variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature review.

Journal: Journal of neuromuscular diseases

Published: November 12, 2025

The additional diagnostic yield of long-read sequencing in undiagnosed rare diseases.

The additional diagnostic yield of long-read sequencing in undiagnosed rare diseases.

Journal: Genome research

Published: February 03, 2025

Placental CCR5 polymorphisms in relation to fetal growth.

Placental CCR5 polymorphisms in relation to fetal growth.

Journal: Journal of reproductive immunology

Published: January 16, 2025

FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium.

FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium.

Journal: Annals of clinical and translational neurology

Published: October 23, 2024

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Journal: Nature genetics

Published: October 02, 2024

A Novel De Novo Splice Acceptor Variant in BICD2 Is Associated With Spinal Muscular Atrophy.

A Novel De Novo Splice Acceptor Variant in BICD2 Is Associated With Spinal Muscular Atrophy.

Journal: American journal of medical genetics. Part A

Published: October 01, 2024

GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.

GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.

Journal: EBioMedicine

Published: December 29, 2023

Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.

Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.

Journal: American journal of medical genetics. Part A

Published: October 20, 2023

Intronic FGF14 GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment response.

Intronic FGF14 GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment response.

Journal: medRxiv : the preprint server for health sciences

Published: August 14, 2023

The application of epiphenotyping approaches to DNA methylation array studies of the human placenta.

The application of epiphenotyping approaches to DNA methylation array studies of the human placenta.

Journal: Research square

Published: July 18, 2023

The application of epiphenotyping approaches to DNA methylation array studies of the human placenta.

The application of epiphenotyping approaches to DNA methylation array studies of the human placenta.

Journal: Epigenetics & chromatin

Published: June 15, 2023

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.

Journal: Nature genetics

Published: May 11, 2023

Showing 1-12 of 22

Last Updated: 09/26/2026