Dr Isabella Borg

Dr Isabella Borg

Dr Isabella Borg

 M.D.(Melit.),M.Sc.(Clinical Genetics)(Lond.),Ph.D.(Medical Genetics)(Cantab.),F.M.C.Path.,M.M.C.F.D.,R.G.N.(Lond.),Exec.Cert.M.S.(Henley)

Senior Lecturer

Faculty Of Medicine & Surgery
Medical School, Mater Dei Hospital
  +356 2545 6325
  • Congenital Malformations and Genetics of Rare Disorders
  • Retinal Dystrophies
  • Connective Tissue Disorders
  • Psychiatric Genetics
  • Renal Genetics
  • Inborn Errors of Metabolism

OLIVA-TELES, N., DE STEFANO, M.C., GALLAGHER, L., RAKIC, S., JORGE, P., CUTURILO, G., MARKOVSKA-SIMOSKA, S., BORG, I., WOLSTENCROFT, J., TÜMER, Z., HARWOOD, A.J., KODRA, Y. and SKUSE, D., 2020. Rare Pathogenic Copy Number Variation kn the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature. International Journal of Environmental Research and Public Health, 17, pp. 9253.

PACE, N.P., PACE BARDON, M. and BORG, I., 2020. A respiratory/Hirschsprung phenotype in a three‐generation family associated with a novel pathogenic PHOX2B splice donor mutation. Molecular Genetics & Genomic Medicine, 8(12),.

PACE, N.P., BENOIT, V., AGIUS, D., GRIMA, M.A., PARASCANDALO, R., HILBERT, P. and BORG, I., 2019. Two novel GJA1 variants in oculodentodigital dysplasia. Molecular Genetics and Genomic Medicine, 7(9),.

SODI, A., LENZETTI, C., BACHERINI, D., FINOCCHIO, L., VERDINA, T., BORG, I., CIPOLLINI, F., PATWARY, F.U., TANINI, I., ZOPPETTI, C., RIZZO, S. and VIRGILI, G., 2019. Quantitative Analysis of Conjunctival and Retinal Vessels in Fabry Disease. Journal of Ophthalmology, 2019, pp. 4696429.

MUCCIOLO, D.P., ANDREA, S., ILARIA, P., VITTORIA, M., FRANCESCA, C., ISABELLA, B., ELISABETTA, P., ELISA, C., GIANNI, V. and STANISLAO, R., 2018. Fundus phenotype in retinitis pigmentosa associated with EYS mutations. Ophthalmic genetics, .

PACE, N., MAGGOUTA, F., TWIGDEN, M. and BORG, I., 2017. 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 the same chromosome. Molecular Cytogenetics, 10(1),.

LYNCH, S.A. and BORG, I., 2015. Wide disparity of clinical genetics services and EU rare disease research funding across Europe. Journal of Community Genetics, .

BORG, I., FREUDE, K., SABINE KüBART, HOFFMANN, K., MENZEL, C., LACCONE, F., FIRTH, H., MALCOLM, A.F., TOMMERUP, N., HANS-HILGER ROPERS, SARGAN, D. and VERA, M.K., 2005. Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. European Journal of Human Genetics, 13(8), pp. 921.

BORG, I., SQUIRE, M., MENZEL, C., STOUT, K., MORGAN, D., WILLATT, L., O'BRIEN, P.C.M., FERGUSON-SMITH, M., ROPERS, H.H., TOMMERUP, N., KALSCHEUER, V.M. and SARGAN, D.R., 2002. 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. BMJ Publishing Group Ltd.

BORG, I., DELHANTY, J.D. and BARAITSER, M., 1995. Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome. BMJ Publishing Group Ltd.