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Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Wong HH, Seet SH, Maier M, Gurel A, Traspas RM, Lee C, Zhang S, Talim B, Loh AYT, Chia CY, Teoh TS, Sng D, Rensvold J, Unal S, Shishkova E, Cepni E, Nathan FM, Sirota FL, Liang C, Yarali N, Simsek-Kiper PO, Mitani T, Ceylaner S, Arman-Bilir O, Mbarek H, Gumruk F, Efthymiou S, Uğurlu Çi Men D, Georgiadou D, Sotiropoulou K, Houlden H, Paul F, Pehlivan D, Lainé C, Chai G, Ali NA, Choo SC, Keng SS, Boisson B, Yılmaz E, Xue S, Coon JJ, Ly TTN, Gilani N, Hasbini D, Kayserili H, Zaki MS, Isfort RJ, Ordonez N, Tripolszki K, Bauer P, Rezaei N, Seyedpour S, Khotaei GT, Bascom CC, Maroofian R, Chaabouni M, Alsubhi A, Eyaid W, Işıkay S, Gleeson JG, Lupski JR, Casanova JL, Pagliarini DJ, Akarsu NA, Maurer-Stroh S, Cetinkaya A, Bertoli-Avella A, Mathuru AS, Ho L, Bard FA, Reversade B. Wong HH, et al. Among authors: yilmaz e. Am J Hum Genet. 2021 Jul 1;108(7):1301-1317. doi: 10.1016/j.ajhg.2021.05.003. Epub 2021 May 25. Am J Hum Genet. 2021. PMID: 34038740 Free PMC article.
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.
Bademci G, Abad C, Incesulu A, Rad A, Alper O, Kolb SM, Cengiz FB, Diaz-Horta O, Silan F, Mihci E, Ocak E, Najafi M, Maroofian R, Yilmaz E, Nur BG, Duman D, Guo S, Sant DW, Wang G, Monje PV, Haaf T, Blanton SH, Vona B, Walz K, Tekin M. Bademci G, et al. Among authors: yilmaz e. Hum Genet. 2018 Jul;137(6-7):479-486. doi: 10.1007/s00439-018-1901-4. Epub 2018 Jul 7. Hum Genet. 2018. PMID: 29982980 Free PMC article.
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Wong HH, Seet SH, Maier M, Gurel A, Traspas RM, Lee C, Zhang S, Talim B, Loh AYT, Chia CY, Teoh TS, Sng D, Rensvold J, Unal S, Shishkova E, Cepni E, Nathan FM, Sirota FL, Liang C, Yarali N, Simsek-Kiper PO, Mitani T, Ceylaner S, Arman-Bilir O, Mbarek H, Gumruk F, Efthymiou S, Çïmen DU, Georgiadou D, Sotiropoulou K, Houlden H, Paul F, Pehlivan D, Lainé C, Chai G, Ali NA, Choo SC, Keng SS, Boisson B, Yılmaz E, Xue S, Coon JJ, Nguyen Ly TT, Gilani N, Hasbini D, Kayserili H, Zaki MS, Isfort RJ, Ordonez N, Tripolszki K, Bauer P, Rezaei N, Seyedpour S, Khotaei GT, Bascom CC, Maroofian R, Chaabouni M, Alsubhi A, Eyaid W, Işıkay S, Gleeson JG, Lupski JR, Casanova JL, Pagliarini DJ, Akarsu NA, Maurer-Stroh S, Cetinkaya A, Bertoli-Avella A, Mathuru AS, Ho L, Bard FA, Reversade B. Wong HH, et al. Among authors: yilmaz e. Am J Hum Genet. 2021 Jul 1;108(7):1356. doi: 10.1016/j.ajhg.2021.06.009. Am J Hum Genet. 2021. PMID: 34214448 Free PMC article. No abstract available.
A novel AXIN2 gene mutation in sagittal synostosis.
Yilmaz E, Mihci E, Guzel Nur B, Alper OM. Yilmaz E, et al. Am J Med Genet A. 2018 Sep;176(9):1976-1980. doi: 10.1002/ajmg.a.40373. Epub 2018 Aug 8. Am J Med Genet A. 2018. PMID: 30088857
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nashabat M, Nabavizadeh N, Saraçoğlu HP, Sarıbaş B, Avcı Ş, Börklü E, Beillard E, Yılmaz E, Uygur SE, Kayhan CK, Bosco L, Eren ZB, Steindl K, Richter MF, Bademci G, Rauch A, Fattahi Z, Valentino ML, Connolly AM, Bahr A, Viola L, Bergmann AK, Rocha ME, Peart L, Castro-Rojas DL, Bültmann E, Khan S, Giarrana ML, Teleanu RI, Gonzalez JM, Pini A, Schädlich IS, Vill K, Brugger M, Zuchner S, Pinto A, Donkervoort S, Bivona SA, Riza A; Undiagnosed Diseases Network; Streata I, Gläser D, Baquero-Montoya C, Garcia-Restrepo N, Kotzaeridou U, Brunet T, Epure DA, Bertoli-Avella A, Kariminejad A, Tekin M, von Hardenberg S, Bönnemann CG, Stettner GM, Zanni G, Kayserili H, Oflazer ZP, Escande-Beillard N. Nashabat M, et al. Among authors: yilmaz e. Nat Commun. 2024 Feb 27;15(1):1758. doi: 10.1038/s41467-024-45933-5. Nat Commun. 2024. PMID: 38413582 Free PMC article.
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts P, Simons A, AlZahrani MS, Yilmaz E, AlIdrissi E, van Aerde KJ, Alenezi N, AlGhamdi HA, AlJubab HA, Al-Hussaini AA, AlManjomi F, Alsaad AB, Alsaleem B, Andijani AA, Asery A, Ballourah W, Bleeker-Rovers CP, van Deuren M, van der Flier M, Gerkes EH, Gilissen C, Habazi MK, Hehir-Kwa JY, Henriet SS, Hoppenreijs EP, Hortillosa S, Kerkhofs CH, Keski-Filppula R, Lelieveld SH, Lone K, MacKenzie MA, Mensenkamp AR, Moilanen J, Nelen M, Ten Oever J, Potjewijd J, van Paassen P, Schuurs-Hoeijmakers JHM, Simon A, Stokowy T, van de Vorst M, Vreeburg M, Wagner A, van Well GTJ, Zafeiropoulou D, Zonneveld-Huijssoon E, Veltman JA, van Zelst-Stams WAG, Faqeih EA, van de Veerdonk FL, Netea MG, Hoischen A. Arts P, et al. Among authors: yilmaz e. Genome Med. 2019 Jun 17;11(1):38. doi: 10.1186/s13073-019-0649-3. Genome Med. 2019. PMID: 31203817 Free PMC article.
Clinical and genetic findings of two cases with Apert syndrome.
Cammarata-Scalisi F, Yilmaz E, Callea M, Avendaño A, Mıhçı E, Alper OM. Cammarata-Scalisi F, et al. Among authors: yilmaz e. Bol Med Hosp Infant Mex. 2019;76(1):44-48. doi: 10.24875/BMHIM.18000053. Bol Med Hosp Infant Mex. 2019. PMID: 30657466 English.
1,838 results