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Page 1
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Delgado-Vega AM, Cederroth H, Taylan F, Ekholm K, Ek M, Thonberg H, Jemt A, Nilsson D, Eisfeldt J, Bilgrav Saether K, Höijer I, Akgun-Dogan O, Asano Y, Barakat TS, Batkovskyte D, Baynam G, Bodamer O, Chetruengchai W, Corcoran P, Couse M, Danis D, Demidov G, Dohi E, Erhardsson M, Fernandez-Luna L, Fujiwara T, Garg N, Giugliani R, Gonzaga-Jauregui C, Grigelioniene G, Groza T, Gunnarsson C, Hammarsjö A, Hammond CK, Hatirnaz Ng Ö, Hesketh S, Hettiarachchi D, Johansson Soller M, Kirmani UA, Kjellberg M, Kvarnung M, Kvlividze O, Lagerstedt-Robinson K, Lasko P, Lassmann T, Lau LYS, Laurie S, Lim WK, Liu Z, Lysenkova Wiklander M, Makay P, Maiga AB, Maya-González C, Meyn MS, Neethiraj R, Nigro V, Nordgren F, Nordlund J, Orrsjö S, Ottosson J, Ozbek U, Özdemir Ö, Partin C, Pearce DA, Peck R, Pedersen A, Pettersson M, Pongpanich M, Posada de la Paz M, Ramani A, Romero JA, Romero VI, Rosenquist R, Saw AM, Spencer M, Stattin EL, Srichomthong C, Tapia-Paez I, Taruscio D, Taylor JP, Tkemaladze T, Tully I, Tümer Z, van Zelst-Stams WAG, Verloes A, Västerviga E, Wang S, Yang R, Yamamoto S, Yépez VA, Zhang Q, Shotelersuk V, Wiafe SA, Alanay Y, Botto LD, Kirmani S, Lumaka A, Palmer EE, Puri RD,… See abstract for full author list ➔ Delgado-Vega AM, et al. Among authors: akgun dogan o. Nat Genet. 2024 Nov;56(11):2287-2294. doi: 10.1038/s41588-024-01941-1. Nat Genet. 2024. PMID: 39433890 No abstract available.
Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey.
Guner Yilmaz B, Akgun-Dogan O, Ozdemir O, Yuksel B, Hatirnaz Ng O, Bilguvar K, Ay B, Ozkose GS, Aydin E, Yigit A, Bulut A, Esen FN, Beken S, Aktas S, Demirel A, Arcagok BC, Kazanci E, Bingol İ, Umur O, Sik G, Isik U, Ersoy M, Korkmaz A, Citak A, Mardinoglu A, Ozbek U, Alanay Y. Guner Yilmaz B, et al. Among authors: akgun dogan o. Front Pediatr. 2024 Jul 4;12:1412880. doi: 10.3389/fped.2024.1412880. eCollection 2024. Front Pediatr. 2024. PMID: 39026936 Free PMC article.
Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.
Akgun-Dogan O, Tuc Bengur E, Ay B, Ozkose GS, Kar E, Bengur FB, Bulut AS, Yigit A, Aydin E, Esen FN, Ozdemir O, Yesilyurt A, Alanay Y. Akgun-Dogan O, et al. Front Genet. 2024 Mar 15;15:1347474. doi: 10.3389/fgene.2024.1347474. eCollection 2024. Front Genet. 2024. PMID: 38560291 Free PMC article.
Magnetic resonance imaging based kidney volume assessment for risk stratification in pediatric autosomal dominant polycystic kidney disease.
Yilmaz K, Saygili S, Canpolat N, Akgun-Dogan O, Yuruk Yildirim ZN, Cicek-Oksuz RY, Oner HA, Aksu B, Akyel NG, Oguzhan-Hamis O, Dursun H, Yavuz S, Cicek N, Akinci N, Karabag Yilmaz E, Agbas A, Nayir AN, Konukoglu D, Kurugoglu S, Sever L, Caliskan S. Yilmaz K, et al. Among authors: akgun dogan o. Front Pediatr. 2024 Feb 23;12:1357365. doi: 10.3389/fped.2024.1357365. eCollection 2024. Front Pediatr. 2024. PMID: 38464892 Free PMC article.
Schwartz-Jampel Syndrome Type-1: Compound Heterozygosity of Two Novel Variants.
Atmaca FG, Akgün Doğan Ö, Kutlubay B, Kırmızıbekmez H. Atmaca FG, et al. Among authors: akgun dogan o. J Clin Res Pediatr Endocrinol. 2024 Jan 12. doi: 10.4274/jcrpe.galenos.2023.2023-7-1. Online ahead of print. J Clin Res Pediatr Endocrinol. 2024. PMID: 38212959 Free article.
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Riedhammer KM, Nguyen TT, Koşukcu C, Calzada-Wack J, Li Y, Assia Batzir N, Saygılı S, Wimmers V, Kim GJ, Chrysanthou M, Bakey Z, Sofrin-Drucker E, Kraiger M, Sanz-Moreno A, Amarie OV, Rathkolb B, Klein-Rodewald T, Garrett L, Hölter SM, Seisenberger C, Haug S, Schlosser P, Marschall S, Wurst W, Fuchs H, Gailus-Durner V, Wuttke M, Hrabe de Angelis M, Ćomić J, Akgün Doğan Ö, Özlük Y, Taşdemir M, Ağbaş A, Canpolat N, Orenstein N, Çalışkan S, Weber RG, Bergmann C, Jeanpierre C, Saunier S, Lim TY, Hildebrandt F, Alhaddad B, Basel-Salmon L, Borovitz Y, Wu K, Antony D, Matschkal J, Schaaf CW, Renders L, Schmaderer C, Rogg M, Schell C, Meitinger T, Heemann U, Köttgen A, Arnold SJ, Ozaltin F, Schmidts M, Hoefele J. Riedhammer KM, et al. Among authors: akgun dogan o. Kidney Int. 2024 Apr;105(4):844-864. doi: 10.1016/j.kint.2023.11.032. Epub 2023 Dec 26. Kidney Int. 2024. PMID: 38154558 Free PMC article.
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.
Parra A, Rabin R, Pappas J, Pascual P, Cazalla M, Arias P, Gallego-Zazo N, Santana A, Arroyo I, Artigas M, Pachajoa H, Alanay Y, Akgun-Dogan O, Ruaud L, Couque N, Levy J, Porras-Hurtado GL, Santos-Simarro F, Ballesta-Martinez MJ, Guillén-Navarro E, Muñoz-Hernández H, Nevado J, Spanish OverGrowth Registry Initiative, Tenorio-Castano J, Lapunzina P. Parra A, et al. Among authors: akgun dogan o. Genes (Basel). 2023 May 29;14(6):1179. doi: 10.3390/genes14061179. Genes (Basel). 2023. PMID: 37372360 Free PMC article. Review.
DNAJC21-related thrombocytopenia in a young adult female.
Aslan D, Akgun-Dogan O, Ay B, Çamurdan MO, Mancılar H, Alanay Y. Aslan D, et al. Among authors: akgun dogan o. Am J Med Genet C Semin Med Genet. 2023 Jun;193(2):193-197. doi: 10.1002/ajmg.c.32043. Epub 2023 Apr 26. Am J Med Genet C Semin Med Genet. 2023. PMID: 37186482
35 results