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A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease.
Lourenço CM, Sallum JMF, Pereira AM, Girotto PN, Kok F, Vilela DRF, Barron E, Pessoa A, Oliveira BM. Lourenço CM, et al. Among authors: sallum jmf. Arq Neuropsiquiatr. 2024 May;82(5):1-8. doi: 10.1055/s-0044-1786854. Epub 2024 May 19. Arq Neuropsiquiatr. 2024. PMID: 38763144 Free PMC article.
The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis.
Neves LM, Pinto M, Zin OA, Cunha DP, Agonigi BNS, Motta FL, Gomes LHF, Horovitz DDG, Almeida DC Jr, Malacarne J, Guida L, Braga A, Carvalho AB, Pereira E, Rodrigues APS, Sallum JMF, Zin AA, Vasconcelos ZFM. Neves LM, et al. Among authors: sallum jmf. J Community Genet. 2024 May 10. doi: 10.1007/s12687-024-00708-9. Online ahead of print. J Community Genet. 2024. PMID: 38730191
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ, Panneman DM, Corradi Z, Boonen EGM, Astuti G, Dhaenens CM, Stöhr H, Weber BHF, Sharon D, Banin E, Karali M, Banfi S, Ben-Yosef T, Glavač D, Farrar GJ, Ayuso C, Liskova P, Dudakova L, Vajter M, Ołdak M, Szaflik JP, Matynia A, Gorin MB, Kämpjärvi K, Bauwens M, De Baere E, Hoyng CB, Li CHZ, Klaver CCW, Inglehearn CF, Fujinami K, Rivolta C, Allikmets R, Zernant J, Lee W, Podhajcer OL, Fakin A, Sajovic J, AlTalbishi A, Valeina S, Taurina G, Vincent AL, Roberts L, Ramesar R, Sartor G, Luppi E, Downes SM, van den Born LI, McLaren TL, De Roach JN, Lamey TM, Thompson JA, Chen FK, Tracewska AM, Kamakari S, Sallum JMF, Bolz HJ, Kayserili H, Roosing S, Cremers FPM. Hitti-Malin RJ, et al. Among authors: sallum jmf. Biomolecules. 2024 Mar 19;14(3):367. doi: 10.3390/biom14030367. Biomolecules. 2024. PMID: 38540785 Free PMC article.
Pegcetacoplan for the treatment of geographic atrophy secondary to age-related macular degeneration (OAKS and DERBY): two multicentre, randomised, double-masked, sham-controlled, phase 3 trials.
Heier JS, Lad EM, Holz FG, Rosenfeld PJ, Guymer RH, Boyer D, Grossi F, Baumal CR, Korobelnik JF, Slakter JS, Waheed NK, Metlapally R, Pearce I, Steinle N, Francone AA, Hu A, Lally DR, Deschatelets P, Francois C, Bliss C, Staurenghi G, Monés J, Singh RP, Ribeiro R, Wykoff CC; OAKS and DERBY study investigators. Heier JS, et al. Lancet. 2023 Oct 21;402(10411):1434-1448. doi: 10.1016/S0140-6736(23)01520-9. Lancet. 2023. PMID: 37865470 Clinical Trial.
Genotypic-Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families.
Zin OA, Neves LM, Cunha DP, Motta FL, Agonigi BNS, Horovitz DDG, Almeida DC Jr, Malacarne J, Rodrigues APS, Carvalho AB, Rivello CA, Espariz R, Zin AA, Sallum JMF, Vasconcelos ZFM. Zin OA, et al. Among authors: sallum jmf. Int J Mol Sci. 2023 Jul 25;24(15):11876. doi: 10.3390/ijms241511876. Int J Mol Sci. 2023. PMID: 37569253 Free PMC article.
62 results