Publications by authors named "Isabella Borg"

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Unresolved ethical issues of genetic counseling and testing in clinical psychiatry.
Julia Perry, Eline Bunnik, Marcella Rietschel, Heidi Beate Bentzen, Charlotta Ingvoldstad Malmgren, Isabella Borg

Psychiatr Genet· April 2025

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NOD2 at the interface of hidradenitis suppurativa and inflammatory bowel disease-An in silico analysis.
Dillon Mintoff, Isabella Borg, Nikolai P Pace

Exp Dermatol· January 2024

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NCSTN In-Frame Deletion in Maltese Patients With Hidradenitis Suppurativa.
Dillon Mintoff, Nikolai Paul Pace, Isabella Borg

JAMA Dermatol· September 2023

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Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe - A multi-professional survey study.
Kati Koido, Charlotta Ingvoldstad Malmgren, Lejla Pojskic, Peter Z Almos, Sarah E Bergen, Isabella Borg

Eur J Med Genet· August 2023

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Management of patients with hidradenitis suppurativa having underlying genetic variation: a systematic review and a call for precision medicine.
Dillon Mintoff, Nikolai P Pace, Isabella Borg

Clin Exp Dermatol· February 2023

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Serum Immunoglobulin G Is a Marker of Hidradenitis Suppurativa Disease Severity.
Dillon Mintoff, Isabella Borg, Nikolai P Pace

Int J Mol Sci· November 2022

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Interpreting the spectrum of gamma-secretase complex missense variation in the context of hidradenitis suppurativa-An study.
Dillon Mintoff, Nikolai P Pace, Isabella Borg

Front Genet· September 2022

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The Genomic Architecture of Hidradenitis Suppurativa-A Systematic Review.
Nikolai Paul Pace, Dillon Mintoff, Isabella Borg

Front Genet· March 2022

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Hypermobile Ehlers-Danlos syndrome: A review and a critical appraisal of published genetic research to date.
Kirsty Scicluna, Melissa M Formosa, Rosienne Farrugia, Isabella Borg

Clin Genet· January 2022

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The Clinical Relevance of the Microbiome in Hidradenitis Suppurativa: A Systematic Review.
Dillon Mintoff, Isabella Borg, Nikolai Paul Pace

Vaccines (Basel)· September 2021

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A novel SPINK5 donor splice site variant in a child with Netherton syndrome.
Dillon Mintoff, Isabella Borg, Julia Vornweg, Liam Mercieca, Rijad Merdzanic

Mol Genet Genomic Med· March 2021

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A respiratory/Hirschsprung phenotype in a three-generation family associated with a novel pathogenic PHOX2B splice donor mutation.
Nikolai Paul Pace, Michael Pace Bardon, Isabella Borg

Mol Genet Genomic Med· December 2020

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Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature.
Natália Oliva-Teles, Maria Chiara de Stefano, Louise Gallagher, Severin Rakic, Paula Jorge, Isabella Borg

Int J Environ Res Public Health· December 2020

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Two novel GJA1 variants in oculodentodigital dysplasia.
Nikolai P Pace, Valerie Benoit, David Agius, Maria Angela Grima, Raymond Parascandalo, Isabella Borg

Mol Genet Genomic Med· September 2019

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Quantitative Analysis of Conjunctival and Retinal Vessels in Fabry Disease.
Andrea Sodi, Chiara Lenzetti, Daniela Bacherini, Lucia Finocchio, Tommaso Verdina, Isabella Borg

J Ophthalmol· April 2019

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Fundus phenotype in retinitis pigmentosa associated with EYS mutations.
Dario Pasquale Mucciolo, Andrea Sodi, Ilaria Passerini, Vittoria Murro, Francesca Cipollini, Isabella Borg

Ophthalmic Genet· October 2018

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Molecular cytogenetic characterisation of a novel ring chromosome 6 involving a terminal 6p deletion and terminal 6q duplication in the different arms of the same chromosome.
Nikolai Paul Pace, Frideriki Maggouta, Melissa Twigden, Isabella Borg

Mol Cytogenet· March 2017

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Wide disparity of clinical genetics services and EU rare disease research funding across Europe.
Sally Ann Lynch, Isabella Borg

J Community Genet· April 2016

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Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.
Isabella Borg, Kristine Freude, Sabine Kübart, Kirsten Hoffmann, Corinna Menzel

Eur J Hum Genet· August 2005

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