Publications

Below is a list of peer-reviewed publications by RUDiP members related to rare diseases (RUDiP members in bold).

2024

Micol Falabella, Chiara Pizzamiglio, Luis Carlos Tabara, Benjamin Munro, Mohamed S Abdel-Hamid, Ece Sonmezler, William L Macken, Shanti Lu, Lisa Tilokani, Padraig J Flannery, Nina Patel, Simon A S Pope, Simon J R Heales, Dania B H Hammadi, Charlotte L Alston, Robert W Taylor, Hanns Lochmuller, Cathy E Woodward, Robyn Labrum, Jana Vandrovcova, Henry Houlden, Efstathia Chronopoulou, Germaine Pierre, Reza Maroofian, Michael G Hanna, Jan-Willem Taanman, Semra Hiz, Yavuz Oktay, Maha S Zaki, Rita Horvath, Julien Prudent, Robert D S Pitceathly, on behalf of Genomics England Research Consortium. Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome. Brain, 2024, awae268, DOI: 10.1093/brain/awae268

Cark O, Katkat E, Aydogdu I, Iscan E, Oktay Y, Ozhan G. tubg1 Somatic Mutants Show Tubulinopathy‑Associated Neurodevelopmental Phenotypes in a Zebrafish Model. Molecular Neurobiology 2024 DOI: 10.1007/s12035-024-04448-2

Sarıkaya EA, Korhan P, Incir C, Yıldız AH, Deger DM, Özer SM, Tuncok Y, Ergor G, Islakoğlu YÖ, Sen V, Bozkurt O, Atabey N, Esen AA. Evaluation of androgen receptor and androgen receptor splice-variant 7 in bladder cancer; a novel approach into an ancient topic. World J Urol. 2024 Jul 31;42(1):459. DOI: 10.1007/s00345-024-05166-z.

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 I, Umur O, Sik G, Isik U, Ersoy M, Korkmaz A, Citak A, Mardinoglu A, Ozbek U, Alanay Y. Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey. Front Pediatr. 2024 Jul 4;12:1412880. DOI: 10.3389/fped.2024.1412880.

Ülgen E, Gerlevik U, Gerlevik S, Oktay Y, Sezerman OU, Turcan Ş, Ozduman K. A microdeletion event at 19q13.43 in IDH-mutant astrocytomas is strongly correlated with MYC overexpression. Acta Neuropathol Commun. 2024 Jun 14;12(1):95. DOI: 10.1186/s40478-024-01811-1.

Morgenstern C, Lastres-Becker I, Demirdöğen BC, Costa VM, Daiber A, Foresti R, Motterlini R, Kalyoncu S, Arioz BI, Genc S, Jakubowska M, Trougakos IP, Piechota-Polanczyk A, Mickael M, Santos M, Kensler TW, Cuadrado A, Copple IM. Biomarkers of NRF2 signalling: Current status and future challenges. Redox Biol. 2024 Jun;72:103134. DOI: 10.1016/j.redox.2024.103134.

Karataş M, Azbazdar ME, Camkiranlar M, Tercan-Avci S, Atabey N. Biobank Education for Future Physicians: Training Medical Students Through Student Research Association Networks. Biopreserv Biobank. 2024 Jun;22(3):217-224. DOI: 10.1089/bio.2022.0210.

Ustun Yilmaz S, Agaoglu NB, Manto K, Muftuoglu M, Özbek U. Cosmic Whirl: Navigating the Comet Trail in DNA: H2AX Phosphorylation and the Enigma of Uncertain Significance Variants. Genes (Basel). 2024 Jun 1;15(6):724. DOI: 10.3390/genes15060724.

Karaca MA, Kancagi DD, Ozbek U, Ovali E, Gok O. Betulin Stimulates Osteogenic Differentiation of Human Osteoblasts-Loaded Alginate-Gelatin Microbeads. Bioengineering (Basel). 2024 May 30;11(6):553. DOI: 10.3390/bioengineering11060553.

Susgun S, Yucesan E, Goncu B, Hasanoglu Sayin S, Kina UY, Ozgul C, Duzenli OF, Kocaturk O, Calik M, Ozbek U, Ugur Iseri SA. Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring. Neurol Sci. 2024 May;45(5):2271-2277. DOI: 10.1007/s10072-023-07211-y.

Cavusoglu D, Ozturk G, Turkdogan D, Kurul SH, Yis U, Komur M, Incecik F, Kara B, Sahin T, Unver O, Dilber C, Mert GG, Gunay C, Uzan GS, Ersoy O, Oktay Y, Mermer S, Tuncer GO, Gungor O, Ozcora GDK, Gumus U, Sezer O, Cetin GO, Demir F, Yilmaz A, Gurbuz G, Topcu M, Topaloglu H, Ceylan AC, Ceylaner S, Gleeson JG, Icagasioglu DF, Sonmez FM. Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study. Cerebellum. 2024 Apr 15. DOI: 10.1007/s12311-024-01690-1.

Temizoz B, Shibahara T, Hioki K, Hayashi T, Kobiyama K, Lee MSJ, Surucu N, Sag E, Kumanogoh A, Yamamoto M, Gursel M, Ozen S, Kuroda E, Coban C, Ishii KJ. 5,6-dimethylxanthenone-4-acetic acid (DMXAA), a partial STING agonist, competes for human STING activation. Front Immunol. 2024 Mar 12;15:1353336. DOI: 10.3389/fimmu.2024.1353336.

Abu Alhaija AA, Lone IN, Sekeroglu EO, Batur T, Angelov D, Dimitrov S, Hamiche A, Firat Karalar EN, Ercan ME, Yagci T, Alotaibi H, Diril MK. Development of a mouse embryonic stem cell model for investigating the functions of the linker histone H1-4. FEBS Open Bio. 2024 Feb;14(2):309-321. DOI: 10.1002/2211-5463.13750.

Aslan A, Hatırnaz-Ng Ö, Taşar O, Özbek U, Yamantürk-Çelik P. Memantine and SKF82958 but not an enriched environment modulate naloxone-precipitated morphine abstinence syndrome without affecting hippocampal tPA mRNA levels in rats. Pharmacol Biochem Behav. 2024 Jan;234:173688. DOI: 10.1016/j.pbb.2023.173688.

2023

Koçhan N, Oktay Y, Karakülah G. StemnesScoRe: an R package to estimate the stemness of glioma cancer cells at single-cell resolution. Turk J Biol. 2023 Dec 15;47(6):383-392. DOI: 10.55730/1300-0152.2672.

Kubar A, Temel SG, Beken S, Onder G, Hatirnaz O, Korkmaz A, Alanay Y, Ozbek U, Sag SO, Ergoren MC, Kubar E, Sonmezalp CZ, Doğan O. A new line method; A direct test in spinal muscular atrophy screening for DBS. Mol Genet Genomic Med. 2023 Dec;11(12):e2270. DOI: 10.1002/mgg3.2270.

Wilson LA, Macken WL, Perry LD, Record CJ, Schon KR, Frezatti RSS, Raga S, Naidu K, Köken ÖY, Polat I, Kapapa MM, Dominik N, Efthymiou S, Morsy H, Nel M, Fassad MR, Gao F, Patel K, Schoonen M, Bisschoff M, Vorster A, Jonvik H, Human R, Lubbe E, Nonyane M, Vengalil S, Nashi S, Srivastava K, Lemmers RJLF, Reyaz A, Mishra R, Töpf A, Trainor CI, Steyn EC, Mahungu AC, van der Vliet PJ, Ceylan AC, Hiz AS, Çavdarlı B, Semerci Gündüz CN, Ceylan GG, Nagappa M, Tallapaka KB, Govindaraj P, van der Maarel SM, Narayanappa G, Nandeesh BN, Wa Somwe S, Bearden DR, Kvalsund MP, Ramdharry GM, Oktay Y, Yiş U, Topaloğlu H, Sarkozy A, Bugiardini E, Henning F, Wilmshurst JM, Heckmann JM, McFarland R, Taylor RW, Smuts I, van der Westhuizen FH, Sobreira CFDR, Tomaselli PJ, Marques W Jr, Bhatia R, Dalal A, Srivastava MVP, Yareeda S, Nalini A, Vishnu VY, Thangaraj K, Straub V, Horvath R, Chinnery PF, Pitceathly RDS, Muntoni F, Houlden H, Vandrovcova J, Reilly MM, Hanna MG. Neuromuscular disease genetics in under-represented populations: increasing data diversity. Brain. 2023 Dec 1;146(12):5098-5109. DOI: 10.1093/brain/awad254.

Guzelkaya M, Onal E, Gelinci E, Kumral A, Cakan-Akdogan G. A zebrafish model for studying the mechanisms of newborn hyperbilirubinemia and bilirubin-induced neurological damage. Front Cell Dev Biol. 2023 Nov 14;11:1275414. DOI: 10.3389/fcell.2023.1275414.

Özsoy Ö, Cinleti T, Günay Ç, Sarıkaya Uzan G, Yeşilmen MC, Lochmüller H, Horvath R, Yiş U, Oktay Y, Hiz Kurul S. DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature. Mol Syndromol. 2023 Aug;14(4):322-330. DOI: 10.1159/000529494.

Sciascia S, Roccatello D, Salvatore M, Carta C, Cellai LL, Ferrari G, Lumaka A, Groft S, Alanay Y, Azam M, Baynam G, Cederroth H, Cutiongco-de la Paz EM, Dissanayake VHW, Giugliani R, Gonzaga-Jauregui C, Hettiarachchi D, Kvlividze O, Landoure G, Makay P, Melegh B, Ozbek U, Puri RD, Romero VI, Scaria V, Jamuar SS, Shotelersuk V, Gahl WA, Wiafe SA, Bodamer O, Posada M, Taruscio D. Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators. Front. Public Health, 26 September 2023 DOI: 10.3389/fpubh.2023.1248260

Günay Ç, Aykol D, Özsoy Ö, Sönmezler E, Hanci YS, Kara B, Akkoyunlu Sünnet.i D, Cine N, Deniz A, Özer T, .l.ülü CB, Yilmaz Ö, Kanmaz S, Yilmaz S, Tekgül H, Yildiz N, Acar Arslan E, Cansu A, Olgaç Dündar N, Kusgoz F, Didinmez E, Gençpinar P, Aksu Uzunhan T, Ertürk B, Gezdirici A, Ayaz A, Ölmez A, Ayanoğlu M, Tosun A, Topçu Y, Kiliç B, Aydin K, Çağlar E, Ersoy Kosvali Ö, Okuyaz Ç, Besen Ş, Tekin Orgun L, Erol I, Yüksel D, Sezer A, Atasoy E, Toprak Ü, Güng.r S, Ozgor B, Karadağ M, Dilber C, Şahinoğlu B, Uyur Yalçin E, Eldes Hacifazlioglu N, Yaramiş A, Edem P, Gezici Tekin H, Yilmaz Ü, Ünalp A, Turay S, Biçer D, Gül Mert G, Dokurel Çetin I, Kirik S, .ztürk G, Karal Y, Sanri A, Aksoy A, Polat M, .zgün N, Soydemir D, Sarikaya Uzan G, Ülker Üstebay D, Gök A, Yeşilmen MC, Yiş U, Karakülah G, Bursali A, Oktay Y, Hiz Kurul S. Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study. Neuropediatrics. 2023 Aug;54(4):225-238. DOI: 10.1055/a-2034-8528.

Firtina S, Erbilgin Y, Hatirnaz Ng O, Karaman S, Karakas Z, Celkan TT, Gelen SA, Yildirmak Y, Ozbek U, Sayitoglu M. Impact of TP53 gene variants on prognosis and survival of childhood acute lymphoblastic leukemia. Scand J Clin Lab Invest. 2023 May;83(3):187-193. DOI: 10.1080/00365513.2023.2195682.

Lazic J, Haas OA, Özbek U, Ripperger T, Byrjalsen A, Te Kronnie G; LEGEND-COST Working group 5 members. Perception and management of cancer predisposition in pediatric cancer centers: A European-wide questionnaire-based survey. Pediatr Blood Cancer. 2023 May;70(5):e30229. DOI: 10.1002/pbc.30229.

Karaca MA, Kancagi DD, Ozbek U, Ovali E, Gok O. Preparation of Cell-Loaded Microbeads as Stable and Injectable Delivery Platforms for Tissue Engineering. Biomimetics (Basel). 2023 Apr 13;8(2):155. DOI: 10.3390/biomimetics8020155. PMID: 37092407; PMCID: PMC10123749.

Karabicici M, Akbari S, Ertem O, Gumustekin M, Erdal E. Human liver organoid models for assessment of drug toxicity at the preclinical stage. Endocr Metab Immune Disord Drug Targets. 2023 Apr 11. DOI: 10.2174/1871530323666230411100121.

Lecca M, Pehlivan D, Suñer DH, Weiss K, Coste T, Zweier M, Oktay Y, Danial- Farran N, Rosti V, Bonasoni MP, Malara A, Contrò G, Zuntini R, Pollazzon M, Pascarella R, Neri A, Fusco C, Marafi D, Mitani T, Posey JE, Bayramoglu SE, Gezdirici A, Hernandez-Rodriguez J, Cladera EA, Miravet E, Roldan-Busto J, Ruiz MA, Bauzá CV, Ben-Sira L, Sigaudy S, Begemann A, Unger S, Güng.r S, Hiz S, Sonmezler E, Zehavi Y, Jerdev M, Balduini A, Zuffardi O, Horvath R, Lochmüller H, Rauch A, Garavelli L, Tournier-Lasserve E, Spiegel R, Lupski JR, Errichiello E. Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage. Am J Hum Genet. 2023 Apr 6;110(4):681-690. DOI: 10.1016/j.ajhg.2023.03.005.

Taruscio D, Salvatore M, Lumaka A, Carta C, Cellai LL, Ferrari G, Sciascia S, Groft S, Alanay Y, Azam M, Baynam G, Cederroth H, Cutiongco-de la Paz EM, Dissanayake VHW, Giugliani R, Gonzaga-Jauregui C, Hettiarachchi D, Kvlividze O, Landoure G, Makay P, Melegh B, Ozbek U, Puri RD, Romero V, Scaria V, Jamuar SS, Shotelersuk V, Roccatello D, Gahl WA, Wiafe SA, Bodamer O, Posada M. Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International. Front Public Health. 2023 Mar 2;11:1079601. DOI: 10.3389/fpubh.2023.1079601.

Özbek M, Toy HI, Oktay Y, Karakülah G, Suner A, Pavlopoulou A. An in silico approach to the identification of diagnostic and prognostic markers in low-grade gliomas. PeerJ. 2023 Mar 16;11:e15096. DOI: 10.7717/peerj.15096.

Okay K, Varış PÜ, Miral S, Pavlopoulou A, Oktay Y, Karakülah G. Whole Genome Analysis of Dizygotic Twins With Autism Reveals Prevalent Transposon Insertion Within Neuronal Regulatory Elements: Potential Implications for Disease Etiology and Clinical Assessment. J Autism Dev Disord. 2023 Mar;53(3):1091-1106. DOI: 10.1007/s10803-022-05636-6.

Saglam-Metiner P, Devamoglu U, Filiz Y, Akbari S, Beceren G, Goker B, Yaldiz B, Yanasik S, Biray Avci C, Erdal E, Yesil-Celiktas O. Spatio-temporal dynamics enhance cellular diversity, neuronal function and further maturation of human cerebral organoids. Commun Biol. 2023 Feb 14;6(1):173. DOI: 10.1038/s42003-023-04547-1.

Yeşil AM, Kayaoğlu B, Gül E, Gönç N, Özön A, Tezcan I, Gürsel M, Çağdaş D. DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection. Turk J Pediatr. 2023;65(3):536-541. DOI: 10.24953/turkjped.2020.1934.

Hatirnaz Ng O, Sahin I, Erbilgin Y, Ozdemir O, Yucesan E, Erturk N, Yemenici M, Akgun Dogan O, Ugur Iseri SA, Satman I, Alanay Y, Ozbek U. Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey results. Front Public Health. 2023 Jan 4;10:1049349. DOI: 10.3389/fpubh.2022.1049349.

Mercan S, Akcakaya NH, Salman B, Yapici Z, Ozbek U, Ugur Iseri SA. Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity. Genes Genomics. 2023 Jan;45(1):13-21. DOI: 10.1007/s13258-022-01344-8.

2022

Hiz S, Kiliç S, Bademci G, Karakulak T, Erdoğan A, Özden B, Eresen Ç, Erdal E, Yiş U, Tekin M, Karakülah G, Karaca E, Öztürk M. VARS1 mutations associated with neurodevelopmental disorder are located on a short amino acid stretch of the anticodon-binding domain. Turk J Biol. 2022 Dec 5;46(6):458-464. DOI: 10.55730/1300-0152.2631.

Hiz Kurul S, Oktay Y, Töpf A, Szabó NZ, Güngör S, Yaramis A, Sonmezler E, Matalonga L, Yis U, Schon K, Paramonov I, Kalafatcilar IP, Gao F, Rieger A, Arslan N, Yilmaz E, Ekinci B, Edem PP, Aslan M, Özgör B, Lochmüller A, Nair A, O’Heir E, Lovgren AK; Broad Center for Mendelian Genomics; Maroofian R, Houlden H, Polavarapu K, Roos A, Müller JS, Hathazi D, Chinnery PF, Laurie S, Beltran S, Lochmüller H, Horvath R. High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases. Brain. 2022 May 24;145(4):1507-1518. DOI: 10.1093/brain/awab395.

Aytaç E, Özer L, Baca B, Balık E, Kapran Y, Taşkın OC, Oyan Uluç B, Abacıoğlu MU, Gönenç M, B.lükbaşı Y, Çil BE, Baran B, Aygün C, Yıldız ME, Ünal K, Erkol B, Yaltı T, Özbek U, Attila T, Tüzün N, Gürses B, Erdamar S, Er Ö, Beşe N, Bilge O, Ceyhan GO, Mandel NM, Selek U, Yakıcıer C, Kayserili Karabey H, Saruç M, Özben V, Esen E, Özoran E, Vardareli E, Güner L, Hamzaoğlu I, Buğra D, Karahasanoğlu T, Group TI. Optimizing the Personalized Care for the Management of Rectal Cancer: A Consensus Statement. Turk J Gastroenterol. 2022 Aug;33(8):627-663. DOI: 10.5152/tjg.2022.211103.

Hesaraki M, Bora U, Pahlavan S, Salehi N, Mousavi SA, Barekat M, Rasouli SJ, Baharvand H, Ozhan G, Totonchi M. A Novel Missense Variant in Actin Binding Domain of MYH7 Is Associated With Left Ventricular Noncompaction. Front Cardiovasc Med. 2022 Apr 8;9:839862. DOI: 10.3389/fcvm.2022.839862.

Sefer AP, Abolhassani H, Ober F, Kayaoglu B, Bilgic Eltan S, Kara A, Erman B, Surucu Yilmaz N, Aydogmus C, Aydemir S, Charbonnier LM, Kolukisa B, Azizi G, Delavari S, Momen T, Aliyeva S, Kendir Demirkol Y, Tekin S, Kiykim A, Baser OF, Cokugras H, Gursel M, Karakoc-Aydiner E, Ozen A, Krappmann D, Chatila TA, Rezae, Baris S. Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency. J Clin Immunol. 2022 Apr;42(3):634-652. DOI: 10.1007/s10875-021-01191-4.

Surucu Yilmaz N, Bilgic Eltan S, Kayaoglu B, Geckin B, Heredia RJ, Sefer AP, Kiykim A, Nain E, Kasap N, Dogru O, Yucelten AD, Cinel L, Karasu G, Yesilipek A, Sozeri B, Kaya GG, Yilmaz IC, Baydemir I, Aydin Y, Cansen Kahraman D, Haimel M, Boztug K, Karakoc-Aydiner E, Gursel I, Ozen A, Baris S, Gursel M. Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency. J Clin Immunol. 2022 Apr;42(3):582-596. DOI: 10.1007/s10875-021-01176-3.