Publications

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Submitted
Akizu, N., V. Cantagrel, M. S. Zaki, L. Al-Gazali, X. Wang, S. L, and G. J, "Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction", Nature genetics, vol. 47, issue 3256, pp. 528-534, Submitted.
2021
Ghosh, S. G., M. Scala, C. Beetz, G. Helman, V. Stanley, L. Selim, and J. G. Gleeson, "A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome", European Journal of Human Genetics, vol. 29, pp. 271-279, 2021.
application/pdf icona_relatively_common_homozygous_trappc4_splicing_variant_is_associated_with_an_early-infantile_neurodegenerative_syndrome.pdf
2020
Elsea, S. H., A. Solyom, Kirt Martin, P. Harmatz, J. Christina, L. Mitchell, C. Grant, and L. Selim, "ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy", Human mutation, vol. 40, issue 9, pp. 1469-1487, 2020.
application/pdf iconasah1_pathogenic_variants_associated_with_acid_ceramidase_deficiency.pdf
Laura Cif, K. E. Barwick, J. - P. Lin, M. Sa, L. Abela, D. Demailly, S. Malhotra, Wui K Chong, D. Steel, and L. Selim, "KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation", brain, vol. 143, issue 11, pp. 3242-3261, 2020.
application/pdf iconkmt2b-related_disorders_expansion_of_the_phenotypic_spectrum.pdf
Ghosh, S. G., Lu Wang, M. W. Breuss, J. D. Green, V. Stanley, Xiaoxu Yang, and L. Selim, "Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly", Journal of medical genetics,2020; 57 (4), 274-28257, vol. 57, issue 4, pp. 274-282, 2020.
application/pdf iconrecurrent_homozygous_damaging_mutation_in_tmx2encoding_protein.pdf
2017
Makrythanasis, P., L. A. Selim9, I. G. Mahmoud9, A. Elbadwy9, 13 Stylianos E. Antonarakis1, and J. G. Gleeson7, "Biallelic variants in KIF14 cause intellectual disability with microcephal", European journal of human genetics, 2017.
Selim, L. A., and H. Hassan, "Mitochondrial Diseases as Model of Neurodegeneration ", personalised Medicine : lessons from neurodegeneration to cancer: Springer international AG, 2017.
2014
IG, M., M. M, R. M, S. Laila, and A. A, "Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients.", Pediatr Neurol, vol. 50, issue 2, pp. 140-8, 2014.
G, N., F. AG, Z. MS, ٍS. L, and G. J, "Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.", Science, vol. 343, issue (6170), pp. 506-11, 2014.
Djémié T1, W. S, H. P, S. L, and D. J. P, "PRRT2 mutations: exploring the phenotypical boundaries.", J Neurol Neurosurg Psychiatry, vol. 85, issue 4, pp. 462-5, 2014.
2012
Dixon-Salazar TJ, Udpa N, S. B. S. A. E. O. J. S. J., S. JL, Z. MS, A. - S. GH, M. LA, S. L, A. - H. S, and G. J, "Exome sequencing can improve diagnosis and alter patient management.", Sci Transl Med, vol. 4 (138), issue 3003544., pp. 138-178, 2012.
van AB, K., Dobritzsch D, Meijer J, K. M, S. LA, R. MS, A. B, Meinsma R, and L. B., "ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.", Biochim Biophys Acta, vol. 1822, issue 7, pp. 1096-108, 2012. b_ureidopropionase_manuscript_published-_kuilenburg.pdf
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