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Precision medicine for developmental and epileptic encephalopathies in Africa-strategies for a resource-limited setting.
Esterhuizen AI, Tiffin N, Riordan G, Wessels M, Burman RJ, Aziz MC, Calhoun JD, Gunti J, Amiri EE, Ramamurthy A, Bamshad MJ; University of Washington Centre for Mendelian Genomics (UW-CMG); Mefford HC, Ramesar R, Wilmshurst JM, Carvill GL. Esterhuizen AI, et al. Genet Med. 2023 Feb;25(2):100333. doi: 10.1016/j.gim.2022.11.002. Epub 2022 Dec 8. Genet Med. 2023. PMID: 36480001 Free article.
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.
Faridi R, Yousaf R, Gu S, Inagaki S, Turriff AE, Pelstring K, Guan B, Naik A, Griffith AJ, Adadey SM, Aboagye ET, Awandare GA, Morell RJ, Tsilou E, Noyes AG, Sulmonte LAG, Wonkam A, Schrauwen I, Leal SM, Azaiez H, Brewer CC, Riazuddin S, Hufnagel RB, Hoa M, Zein WM, de Dios JK, Friedman TB. Faridi R, et al. Among authors: leal sm. Clin Genet. 2023 Jun;103(6):699-703. doi: 10.1111/cge.14312. Epub 2023 Mar 13. Clin Genet. 2023. PMID: 36807241
The genetic contribution of the X chromosome in age-related hearing loss.
Naderi E, Cornejo-Sanchez DM, Li G, Schrauwen I, Wang GT, Dewan AT, Leal SM. Naderi E, et al. Among authors: leal sm. Front Genet. 2023 Feb 21;14:1106328. doi: 10.3389/fgene.2023.1106328. eCollection 2023. Front Genet. 2023. PMID: 36896235 Free PMC article.
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Pujol-Giménez J, Mirzaa G, Blue EE, Albano G, Miller DE, Allworth A, Bennett JT, Byers PH, Chanprasert S, Chen J, Doherty D, Folta AB, Gillentine MA, Glass I, Hing A, Horike-Pyne M, Leppig KA, Parhin A, Ranchalis J, Raskind WH, Rosenthal EA, Schwarze U, Sheppeard S, Strohbehn S, Sybert VP, Timms A, Wener M; University of Washington Center for Mendelian Genomics (UW-CMG)a, Undiagnosed Diseases Network (UDN); Bamshad MJ, Hisama FM, Jarvik GP, Dipple KM, Hediger MA, Stergachis AB. Pujol-Giménez J, et al. Ann Clin Transl Neurol. 2023 Jun;10(6):1046-1053. doi: 10.1002/acn3.51786. Epub 2023 May 16. Ann Clin Transl Neurol. 2023. PMID: 37194416 Free PMC article.
Large-scale meta-genome-wide association study reveals common genetic factors linked to radiation-induced acute toxicities across cancer types.
Naderi E, Aguado-Barrera ME, Schack LMH, Dorling L, Rattay T, Fachal L, Summersgill H, Martínez-Calvo L, Welsh C, Dudding T, Odding Y, Varela-Pazos A, Jena R, Thomson DJ, Steenbakkers RJHM, Dennis J, Lobato-Busto R, Alsner J, Ness A, Nutting C, Gómez-Caamaño A, Eriksen JG, Thomas SJ, Bates AM, Webb AJ, Choudhury A, Rosenstein BS, Taboada-Valladares B, Herskind C, Azria D, Dearnaley DP, de Ruysscher D, Sperk E, Hall E, Stobart H, Chang-Claude J, De Ruyck K, Veldeman L, Altabas M, De Santis MC, Farcy-Jacquet MP, Veldwijk MR, Sydes MR, Parliament M, Usmani N, Burnet NG, Seibold P, Symonds RP, Elliott RM, Bultijnck R, Gutiérrez-Enríquez S, Mollà M, Gulliford SL, Green S, Rancati T, Reyes V, Carballo A, Peleteiro P, Sosa-Fajardo P, Parker C, Fonteyne V, Johnson K, Lambrecht M, Vanneste B, Valdagni R, Giraldo A, Ramos M, Diergaarde B, Liu G, Leal SM, Chua MLK, Pring M, Overgaard J, Cascallar-Caneda LM, Duprez F, Talbot CJ, Barnett GC, Dunning AM, Vega A, Andreassen CN, Langendijk JA, West CML, Alizadeh BZ, Kerns SL; Radiogenomics Consortium. Naderi E, et al. Among authors: leal sm. JNCI Cancer Spectr. 2023 Oct 31;7(6):pkad088. doi: 10.1093/jncics/pkad088. JNCI Cancer Spectr. 2023. PMID: 37862240 Free PMC article.
401 results