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Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Chamova T, Ivanova N, Cherninkova S, Koleva M, Zlatareva D, Bojinova V, Mihova K, Georgiev M, Ferdinandov D, Bichev S, Kaneva R, Mitev V, Jordanova A, Tournev I. Chamova T, et al. Among authors: kaneva r. Mol Genet Genomic Med. 2024 Jul;12(7):e2483. doi: 10.1002/mgg3.2483. Mol Genet Genomic Med. 2024. PMID: 39044368 Free PMC article.
A PSA SNP associates with cellular function and clinical outcome in men with prostate cancer.
Srinivasan S, Kryza T, Bock N, Tse BWC, Sokolowski KA, Janaththani P, Fernando A, Moya L, Stephens C, Dong Y, Röhl J, Alinezhad S, Vela I, Perry-Keene JL, Buzacott K, Nica R; IMPACT Study; Gago-Dominguez M; PROFILE Study Steering Committee; Schleutker J, Maier C, Muir K, Tangen CM, Gronberg H, Pashayan N, Albanes D, Wolk A, Stanford JL, Berndt SI, Mucci LA, Koutros S, Cussenot O, Sorensen KD, Grindedal EM, Travis RC, Haiman CA, MacInnis RJ, Vega A, Wiklund F, Neal DE, Kogevinas M, Penney KL, Nordestgaard BG, Brenner H, John EM, Gamulin M, Claessens F, Melander O, Dahlin A, Stattin P, Hallmans G, Häggström C, Johansson R, Thysell E, Rönn AC, Li W, Brown N, Dimeski G, Shepherd B, Dadaev T, Brook MN, Spurdle AB, Stenman UH, Koistinen H, Kote-Jarai Z, Klein RJ, Lilja H, Ecker RC, Eeles R; Practical Consortium; Australian Prostate Cancer BioResource; Clements J, Batra J. Srinivasan S, et al. Nat Commun. 2024 Nov 6;15(1):9587. doi: 10.1038/s41467-024-52472-6. Nat Commun. 2024. PMID: 39505858 Free PMC article.
Rare host variants in ciliary expressed genes contribute to COVID-19 severity in Bulgarian patients.
Kamenarova K, Kachakova-Yordanova D, Baymakova M, Georgiev M, Mihova K, Petkova V, Beltcheva O, Argirova R, Atanasov P, Kunchev M, Andonova R, Zasheva A, Drenska R, Ivanov I, Pantileeva D, Koleva V, Penev A, Lekova-Nikova D, Georgiev D, Pencheva D, Bozhilova R, Ivanova N, Dimova I, Plochev K, Popov G, Popivanov I, Gabrovsky N, Leseva M, Mitev V, Kaneva R. Kamenarova K, et al. Among authors: kaneva r. Sci Rep. 2024 Aug 22;14(1):19487. doi: 10.1038/s41598-024-70514-3. Sci Rep. 2024. PMID: 39174791 Free PMC article.
Cluster effect for SNP-SNP interaction pairs for predicting complex traits.
Lin HY, Mazumder H, Sarkar I, Huang PY, Eeles RA, Kote-Jarai Z, Muir KR; UKGPCS collaborators; Schleutker J, Pashayan N, Batra J; APCB (Australian Prostate Cancer BioResource); Neal DE, Nielsen SF, Nordestgaard BG, Grönberg H, Wiklund F, MacInnis RJ, Haiman CA, Travis RC, Stanford JL, Kibel AS, Cybulski C, Khaw KT, Maier C, Thibodeau SN, Teixeira MR, Cannon-Albright L, Brenner H, Kaneva R, Pandha H; PRACTICAL consortium; Park JY. Lin HY, et al. Among authors: kaneva r. Sci Rep. 2024 Aug 12;14(1):18677. doi: 10.1038/s41598-024-66311-7. Sci Rep. 2024. PMID: 39134575 Free PMC article.
Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428.
Musolf AM, Justice CM, Erdogan-Yildirim Z, Goovaerts S, Cuellar A, Shaffer JR, Marazita ML, Claes P, Weinberg SM, Li J, Senders C, Zwienenberg M, Simeonov E, Kaneva R, Roscioli T, Di Pietro L, Barba M, Lattanzi W, Cunningham ML, Romitti PA, Boyadjiev SA. Musolf AM, et al. Among authors: kaneva r. Sci Rep. 2024 Apr 12;14(1):8533. doi: 10.1038/s41598-024-58343-w. Sci Rep. 2024. PMID: 38609424 Free PMC article.
206 results