Giulia Gobbo

University of Padua — Italy

Medicine · Health Sciences

18h-index1.2kcitations84works6.82yr avg
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Research Topics

Pregnancy and preeclampsia studies(16), Liver Disease and Transplantation(15), Liver Disease Diagnosis and Treatment(11), Epigenetics and DNA Methylation(10), Prenatal Screening and Diagnostics(9)

Publications81 total

Antiphosphatidylserine/prothrombin antibodies define a high-risk antiphospholipid syndrome profile associated with organ damage
Clinical Chemistry and Laboratory Medicine (CCLM)·2026Open Access
<i>MT-ATP6</i> variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature review
Journal of Neuromuscular Diseases·2025Open Access
Microvascular Free Flap Reconstruction After Salvage Total Laryngectomy: Experience of the Verona University
Journal of Clinical Medicine·2025· 1 citedOpen Access
155PDistal axonal neuropathy as the initial presentation in COL6A-related myopathies: a case series
Neuromuscular Disorders·2025
Placental CCR5 polymorphisms in relation to fetal growth
Journal of Reproductive Immunology·2025Open Access
POS1138 Quadruple antiphospholipid antibody positivity is associated with accrual damage in antiphospholipid syndrome patients
Annals of the Rheumatic Diseases·2025Open Access
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
Nature Genetics·2025· 27 citedOpen Access
<scp><i>FGF14</i> GAA</scp> Intronic Expansion in Unsolved Adult‐Onset Ataxia in the <scp>Care4Rare</scp> Canada Consortium
Annals of Clinical and Translational Neurology·2025· 3 citedOpen Access
The additional diagnostic yield of long-read sequencing in undiagnosed rare diseases
Genome Research·2025· 13 citedOpen Access
Pé Diabético: Fisiopatologia, inovações diagnósticas e estratégias para prevenção de complicações
Brazilian Journal of Implantology and Health Sciences·2024Open Access
A Novel De Novo Splice Acceptor Variant in <i>BICD2</i> Is Associated With Spinal Muscular Atrophy
American Journal of Medical Genetics Part A·2024Open Access
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
2024· 3 cited
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus
Nature Genetics·2024· 31 citedOpen Access
GAA-FGF14 Disease: Defining Its Frequency, Molecular Basis, and 4-aminopyridine Response in a Large Cohort of Patients with Downbeat Nystagmus (P6-3.013)
Neurology·2024
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort
EBioMedicine·2024· 54 citedOpen Access
Sex-dependent placental methylation quantitative trait loci provide insight into the prenatal origins of childhood onset traits and conditions
iScience·2024· 4 citedOpen Access
P195: Investigating the contribution of an intronic expansion repeat in FGF14 as a genetic cause of late-onset ataxia
Genetics in Medicine Open·2024Open Access
O36: Long-read genome sequencing in unsolved rare genetic diseases: Preliminary experiences from the Care4Rare Canada Consortium
Genetics in Medicine Open·2024Open Access
P605: RNA sequencing as a second-line test for rare disease
Genetics in Medicine Open·2024Open Access
Long‐read genome sequencing reveals a novel intronic retroelement insertion in <scp><i>NR5A1</i></scp> associated with 46,<scp>XY</scp> differences of sexual development
American Journal of Medical Genetics Part A·2023· 9 cited
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Frequent Co-authors

Wendy P. Robinson(14), Kym M. Boycott(8), Victor Yuan(7), Madeline Couse(7), E. Magda Price(6), Valentina Monti(5), Lorenzo Menicanti(5), Manuela Merli(5), M. Cazzaniga(4), Francesco Salerno(4), Rosangela Piccinni(4), Lorenzo Ridola(4), Luigi Bergamaschini(4), Chaini Konwar(4), David Pellerin(4), Matt C. Danzi(4), Matthis Synofzik(4), Alexis Elias Malavazos(4), Francesco Perrone(3), Maria Carmela Piccirillo(3)