| Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome I Borg, K Freude, S Kübart, K Hoffmann, C Menzel, F Laccone, H Firth, ... European Journal of Human Genetics 13 (8), 921-927, 2005 | 120 | 2005 |
| Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome. I Borg, JD Delhanty, M Baraitser Journal of medical genetics 32 (9), 692-696, 1995 | 68 | 1995 |
| A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2; 8 translocation I Borg, M Squire, C Menzel, K Stout, D Morgan, L Willatt, PCM O'Brien, ... Journal of medical genetics 39 (6), 391-399, 2002 | 59 | 2002 |
| Wide disparity of clinical genetics services and EU rare disease research funding across Europe SA Lynch, I Borg Journal of community genetics 7, 119-126, 2016 | 23 | 2016 |
| Refining the phenotypical and mutational spectrum of Taybi‐Linder syndrome A Putoux, A Alqahtani, L Pinson, ADC Paulussen, J Michel, A Besson, ... Clinical genetics 90 (6), 550-555, 2016 | 21 | 2016 |
| The genomic architecture of hidradenitis suppurativa—a systematic review NP Pace, D Mintoff, I Borg Frontiers in genetics 13, 861241, 2022 | 20 | 2022 |
| The clinical relevance of the microbiome in hidradenitis suppurativa: A systematic review D Mintoff, I Borg, NP Pace Vaccines 9 (10), 1076, 2021 | 20 | 2021 |
| Molecular cytogenetic characterisation of a novel de novo ring chromosome 6 involving a terminal 6p deletion and terminal 6q duplication in the different arms of … NP Pace, F Maggouta, M Twigden, I Borg Molecular Cytogenetics 10, 1-6, 2017 | 17 | 2017 |
| Hypermobile Ehlers–Danlos syndrome: A review and a critical appraisal of published genetic research to date K Scicluna, MM Formosa, R Farrugia, I Borg Clinical Genetics 101 (1), 20-31, 2022 | 16 | 2022 |
| A novel c. 671_682del NCSTN variant in a family with hidradenitis suppurativa: a pilot study D Mintoff, NP Pace, P Bauer, I Borg Clinical and Experimental Dermatology 46 (7), 1306-1308, 2021 | 11 | 2021 |
| Two novel GJA1 variants in oculodentodigital dysplasia NP Pace, V Benoit, D Agius, MA Grima, R Parascandalo, P Hilbert, I Borg Molecular Genetics & Genomic Medicine 7 (9), e882, 2019 | 11 | 2019 |
| Interpreting the spectrum of gamma-secretase complex missense variation in the context of hidradenitis suppurativa—An in-silico study D Mintoff, NP Pace, I Borg Frontiers in Genetics 13, 962449, 2022 | 10 | 2022 |
| Quantitative analysis of conjunctival and retinal vessels in Fabry disease A Sodi, C Lenzetti, D Bacherini, L Finocchio, T Verdina, I Borg, F Cipollini, ... Journal of ophthalmology 2019 (1), 4696429, 2019 | 10 | 2019 |
| NCSTN in-frame deletion in Maltese patients with hidradenitis suppurativa D Mintoff, NP Pace, I Borg JAMA dermatology 159 (9), 939-944, 2023 | 9 | 2023 |
| HB Setif [α94 (GI) ASPàTYR] in Malta I Borg, M Valentino, A Fiorini, AE Felice Hemoglobin 21 (1), 91-96, 1997 | 7 | 1997 |
| Serum immunoglobulin G is a marker of hidradenitis suppurativa disease severity D Mintoff, I Borg, NP Pace International Journal of Molecular Sciences 23 (22), 13800, 2022 | 6 | 2022 |
| A respiratory/Hirschsprung phenotype in a three‐generation family associated with a novel pathogenic PHOX2B splice donor mutation NP Pace, M Pace Bardon, I Borg Molecular Genetics & Genomic Medicine 8 (12), e1528, 2020 | 6 | 2020 |
| Fundus phenotype in retinitis pigmentosa associated with EYS mutations DP Mucciolo, A Sodi, I Passerini, V Murro, F Cipollini, I Borg, E Pelo, ... Ophthalmic Genetics 39 (5), 589-602, 2018 | 6 | 2018 |
| De novo subtelomeric 6p25. 3 deletion with duplication of 6q23. 3-q27: Genotype–phenotype correlation EI Atli, H Gurkan, E Atli, U Vatansever, B Acunas, C Mail Journal of Pediatric Genetics 9 (01), 032-039, 2020 | 5 | 2020 |
| Rare pathogenic copy number variation in the 16p11. 2 (BP4–BP5) region associated with neurodevelopmental and neuropsychiatric disorders: a review of the literature N Oliva-Teles, MC de Stefano, L Gallagher, S Rakic, P Jorge, G Cuturilo, ... International Journal of Environmental Research and Public Health 17 (24), 9253, 2020 | 4 | 2020 |
