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1: Yeşil G, Aralaşmak A, Akyüz E, İçağasıoğlu D, Uygur Şahin T, Bayram Y.​Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy,
Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy. Balkan MedJ. 2018 Mar 16. doi: 10.4274/balkanmedj.2017.0986. [Epub ahead of print] PubMed
PMID: 29545233.

2: Bektaş G, Yeşil G, Yıldız EP, Aydınlı N, Çalışkan M, Özmen M. Hereditaryspastic paraplegia type 35 caused by a novel FA2H mutation. Turk J Pediatr.
2017;59(3):329-334. doi: 10.24953/turkjped.2017.03.016. PubMed PMID: 29376581.

3: Gürsoy AE, Yeşil G., Ergun SS, Tosuner Z. Familial amyloid polyneuropathy dueto p.ALA140 SER mutation. Neurol India. 2018 Jan-Feb;66(1):238-241. doi:
10.4103/0028-3886.222879. PubMed PMID: 29322995.

4: Tüysüz B, Kasapçopur Ö, Alkaya DU, Şahin S, Sözeri B, Yeşil G. Mucolipidosistype III gamma: Three novel mutation and genotype-phenotype study in eleven
patients. Gene. 2018 Feb 5;642:398-407. doi: 10.1016/j.gene.2017.11.052. Epub2017 Nov 21. PubMed PMID: 29170090.

5: Yildiz EP, Yesil G, Bektas G, Caliskan M, Tatlı B, Aydinli N, Ozmen M. Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in
ASAH1. Clin Neurol Neurosurg. 2018 Jan;164:47-49. doi:10.1016/j.clineuro.2017.11.008. Epub 2017 Nov 21. PubMed PMID: 29169047.

6: Zubarioglu T, Kiykim E, Yesil G, Demircioglu D, Cansever MS, Yalcinkaya C,Aktuglu-Zeybek C. Early diagnosed cerebrotendinous xanthomatosis patients:
clinical, neuroradiological characteristics and therapy results of a single center from Turkey. Acta Neurol Belg. 2017 Oct 22. doi:
10.1007/s13760-017-0851-2. [Epub ahead of print] PubMed PMID: 29058268.

7: Yildiz EP, Yesil G, Ozkan MU, Bektas G, Caliskan M, Ozmen M. A novel EPM2A mutation in a patient with Lafora disease presenting with early parkinsonism
symptoms in childhood. Seizure. 2017 Oct;51:77-79. doi:10.1016/j.seizure.2017.07.011. Epub 2017 Jul 27. PubMed PMID: 28818698.

8: Güler S, Yeşil G, Önal H. Endocrinological Evaluations of a Neurofibromatosis Type 1 Cohort: Is it Necessary to Evaluate Autoimmune Thyroiditis in
Neurofibromatosis Type 1? Balkan Med J. 2017 Dec 1;34(6):522-526. doi:10.4274/balkanmedj.2015.1717. Epub 2017 May 29. PubMed PMID: 28552839; PubMed
Central PMCID: PMC5785656.

9: Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK,
Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AG, Skogen V, Osnes LTN, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ,
Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, 
Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch
AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR. Primary immunodeficiency
diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 Jan;139(1):232-245. doi: 10.1016/j.jaci.2016.05.042.
Epub 2016 Jul 16. Erratum in: J Allergy Clin Immunol. 2018 Feb;141(2):832. PubMed PMID: 27577878; PubMed Central PMCID: PMC5222743.

​10: Scott EM, Halees A, Itan Y, Spencer EG, He Y, Azab MA, Gabriel SB, Belkadi A,Boisson B, Abel L, Clark AG; Greater Middle East Variome Consortium, Alkuraya FS,
Casanova JL, Gleeson JG. Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. Nat Genet. 2016 Sep;48(9):1071-6. 
doi: 10.1038/ng.3592. Epub 2016 Jul 18. PubMed PMID: 27428751; PubMed Central PMCID: PMC5019950.

11: Kayserili H, Altunoglu U, Yesil G, Rosti RÖ. Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds,
and small cerebellum in four patients. Am J Med Genet A. 2016 Jun;170(6):1391-9. doi: 10.1002/ajmg.a.37652. Epub 2016 Apr 13. PubMed PMID: 27075597.

12: Harel T, Yesil G, Bayram Y, Coban-Akdemir Z, Charng WL, Karaca E, Al Asmari A, Eldomery MK, Hunter JV, Jhangiani SN, Rosenfeld JA, Pehlivan D, El-Hattab AW, 
Saleh MA, LeDuc CA, Muzny D, Boerwinkle E; Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, Chung WK, Yang Y, Belmont JW, Lupski JR. Monoallelic and
Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Am J Hum Genet. 2016 Mar
3;98(3):562-570. doi: 10.1016/j.ajhg.2016.01.011. PubMed PMID: 26942288; PubMed Central PMCID: PMC4800043.

13: Kiykim A, Garncarz W, Karakoc-Aydiner E, Ozen A, Kiykim E, Yesil G, Boztug K,Baris S. Novel CLPB mutation in a patient with 3-methylglutaconic aciduria
causing severe neurological involvement and congenital neutropenia. Clin Immunol.2016 Apr;165:1-3. doi: 10.1016/j.clim.2016.02.008. Epub 2016 Feb 23. PubMed PMID:26916670.

14: Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z,Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch 
H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Tug Bozdogan S, Aslan H,Aydin H, Tos T, Aksoy A, De Vivo DC, Jain P, Geckinli BB, Sezer O, Gul D, Durmaz 
B, Cogulu O, Ozkinay F, Topcu V, Candan S, Cebi AH, Ikbal M, Yilmaz Gulec E,Gezdirici A, Koparir E, Ekici F, Coskun S, Cicek S, Karaer K, Koparir A, Duz MB, 
Kirat E, Fenercioglu E, Ulucan H, Seven M, Guran T, Elcioglu N, Yildirim MS,Aktas D, Alikaşifoğlu M, Ture M, Yakut T, Overton JD, Yuksel A, Ozen M, Muzny DM,
Adams DR, Boerwinkle E, Chung WK, Gibbs RA, Lupski JR. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian
Neurologic Disease. Neuron. 2015 Nov 4;88(3):499-513. doi:10.1016/j.neuron.2015.09.048. PubMed PMID: 26539891; PubMed Central PMCID:PMC4824012.

15: Ediz SS, Aralasmak A, Yilmaz TF, Toprak H, Yesil G, Alkan A. MRI and MRS findings in fucosidosis; a rare lysosomal storage disease. Brain Dev. 2016
Apr;38(4):435-8. doi: 10.1016/j.braindev.2015.09.013. Epub 2015 Oct 26. PubMed PMID: 26515723.

16: Bayram Y, Gulsuner S, Guran T, Abaci A, Yesil G, Gulsuner HU, Atay Z, Pierce SB, Gambin T, Lee M, Turan S, Bober E, Atik MM, Walsh T, Karaca E, Pehlivan D,
Jhangiani SN, Muzny D, Bereket A, Buyukgebiz A, Boerwinkle E, Gibbs RA, King MC, Lupski JR. Homozygous loss-of-function mutations in SOHLH1 in patients with
nonsyndromic hypergonadotropic hypogonadism. J Clin Endocrinol Metab. 2015 May;100(5):E808-14. doi: 10.1210/jc.2015-1150. Epub 2015 Mar 16. PubMed PMID:
25774885; PubMed Central PMCID: PMC4422898.

17: Simons C, Rash LD, Crawford J, Ma L, Cristofori-Armstrong B, Miller D, Ru K, Baillie GJ, Alanay Y, Jacquinet A, Debray FG, Verloes A, Shen J, Yesil G, Guler
S, Yuksel A, Cleary JG, Grimmond SM, McGaughran J, King GF, Gabbett MT, Taft RJ. Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. Nat Genet. 2015 Mar;47(3):304. doi:10.1038/ng0315-304b. PubMed PMID: 25711872.

18: Yuan B, Pehlivan D, Karaca E, Patel N, Charng WL, Gambin T, Gonzaga-Jauregui C, Sutton VR, Yesil G, Bozdogan ST, Tos T, Koparir A, Koparir E, Beck CR, Gu S,
Aslan H, Yuregir OO, Al Rubeaan K, Alnaqeb D, Alshammari MJ, Bayram Y, Atik MM,Aydin H, Geckinli BB, Seven M, Ulucan H, Fenercioglu E, Ozen M, Jhangiani S,
Muzny DM, Boerwinkle E, Tuysuz B, Alkuraya FS, Gibbs RA, Lupski JR. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related
phenotypes. J Clin Invest. 2015 Feb;125(2):636-51. doi: 10.1172/JCI77435. Epub 2015 Jan 9. PubMed PMID: 25574841; PubMed Central PMCID: PMC4319410.

​​19: Geckinli BB, Toksoy G, Sayar C, Soylemez MA, Yesil G, Aydın H, Karaman A, Devranoglu B. Prevalence of X-aneuploidies, X-structural abnormalities and 46,XY 
sex reversal in Turkish women with primary amenorrhea or premature ovarian insufficiency. Eur J Obstet Gynecol Reprod Biol. 2014 Nov;182:211-5. doi:
10.1016/j.ejogrb.2014.09.033. Epub 2014 Sep 28. PubMed PMID: 25445102.

20: Simons C, Rash LD, Crawford J, Ma L, Cristofori-Armstrong B, Miller D, Ru K, Baillie GJ, Alanay Y, Jacquinet A, Debray FG, Verloes A, Shen J, Yesil G, Guler
S, Yuksel A, Cleary JG, Grimmond SM, McGaughran J, King GF, Gabbett MT, Taft RJ. Mutations in the voltage-gated potassium channel gene KCNH1 cause
Temple-Baraitser syndrome and epilepsy. Nat Genet. 2015 Jan;47(1):73-7. doi:10.1038/ng.3153. Epub 2014 Nov 24. Erratum in: Nat Genet. 2015 Mar;47(3):304.
PubMed PMID: 25420144.

​21: Sousa SB, Hennekam RC; Nicolaides-Baraitser Syndrome International Consortium. Phenotype and genotype in Nicolaides-Baraitser syndrome. Am J Med
Genet C Semin Med Genet. 2014 Sep;166C(3):302-14. doi: 10.1002/ajmg.c.31409. Epub 2014 Aug 28. Review. PubMed PMID: 25169058.

22: Ates S, Yesil G, Sevket O, Molla T, Yildiz S. Comparison of metabolic profile and abdominal fat distribution between karyotypically normal women with premature ovarian insufficiency and age matched controls. Maturitas. 2014 Nov;79(3):306-10.doi: 10.1016/j.maturitas.2014.07.008. Epub 2014 Jul 16.
PubMed PMID: 25085705.

23: Yeşil G, Lebre AS, Santos SD, Güran O, Özahi II, Daire VC, Güran T. Stuve-Wiedemann syndrome: is it underrecognized? Am J Med Genet A. 2014
Sep;164A(9):2200-5. doi: 10.1002/ajmg.a.36626. Epub 2014 Jul 2. PubMed PMID:24988918.

24: Karaca E, Weitzer S, Pehlivan D, Shiraishi H, Gogakos T, Hanada T, Jhangiani SN, Wiszniewski W, Withers M, Campbell IM, Erdin S, Isikay S, Franco LM,
Gonzaga-Jauregui C, Gambin T, Gelowani V, Hunter JV, Yesil G, Koparir E, Yilmaz S, Brown M, Briskin D, Hafner M, Morozov P, Farazi TA, Bernreuther C, Glatzel M, 
Trattnig S, Friske J, Kronnerwetter C, Bainbridge MN, Gezdirici A, Seven M, Muzny DM, Boerwinkle E, Ozen M; Baylor Hopkins Center for Mendelian Genomics, Clausen T, Tuschl T, Yuksel A, Hess A, Gibbs RA, Martinez J, Penninger JM, Lupski JR.Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014 Apr 24;157(3):636-50. doi:10.1016/j.cell.2014.02.058. PubMed PMID: 24766809; PubMed Central PMCID:PMC4146440.

25: Yesil G, Guler S, Yuksel A, Alanay Y. Report of a patient with Temple-Baraitser syndrome. Am J Med Genet A. 2014 Mar;164A(3):848-51. doi:
10.1002/ajmg.a.36344. Epub 2013 Dec 19. PubMed PMID: 24357613.

26: Seven M, Batar B, Unal S, Yesil G, Yuksel A, Guven M. The effect of genetic polymorphisms of cytochrome P450 CYP2C9, CYP2C19, and CYP2D6 on drug-resistant
epilepsy in Turkish children. Mol Diagn Ther. 2014 Apr;18(2):229-36. doi:10.1007/s40291-013-0078-8. PubMed PMID: 24338437.

27: Seven M, Batar B, Unal S, Yesil G, Yuksel A, Guven M. The drug-transporter gene MDR1 C3435T and G2677T/A polymorphisms and the risk of multidrug-resistant
epilepsy in Turkish children. Mol Biol Rep. 2014 Jan;41(1):331-6. doi: 10.1007/s11033-013-2866-y. Epub 2013 Nov 10. PubMed PMID: 24213830; PubMed
Central PMCID: PMC3877425.

28: Santen GW, Aten E, Vulto-van Silfhout AT, Pottinger C, van Bon BW, van Minderhout IJ, Snowdowne R, van der Lans CA, Boogaard M, Linssen MM, Vijfhuizen
L, van der Wielen MJ, Vollebregt MJ; Coffin-Siris consortium, Breuning MH, Kriek M, van Haeringen A, den Dunnen JT, Hoischen A, Clayton-Smith J, de Vries BB,
Hennekam RC, van Belzen MJ. Coffin-Siris syndrome and the BAF complex:genotype-phenotype study in 63 patients. Hum Mutat. 2013 Nov;34(11):1519-28. doi:
10.1002/humu.22394. Epub 2013 Aug 30. PubMed PMID: 23929686.

29: Iida A, Simsek-Kiper PÖ, Mizumoto S, Hoshino T, Elcioglu N, Horemuzova E, Geiberger S, Yesil G, Kayserili H, Utine GE, Boduroglu K, Watanabe S, Ohashi H,
Alanay Y, Sugahara K, Nishimura G, Ikegawa S. Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations. Hum Mutat. 2013 Oct;34(10):1381-6. doi: 10.1002/humu.22377. Epub 2013 Jul 26. PubMed PMID: 23824674.

30: Silay MS, Yesil G, Yildiz K, Kilincaslan H, Ozgen IT, Armagan A. Congenital agenesis of scrotum and labia majora in siblings. Urology. 2013 Feb;81(2):421-3. 
doi: 10.1016/j.urology.2012.10.019. PubMed PMID: 23374822.

31: Güran T, Yeşil G, Güran Ö, Cesur S, Bosnalı O, Celayir A, Topçuoğlu S,Bereket A. A giant ovarian cyst in a neonate with classical 21-hydroxylase
deficiency with very high testosterone levels demonstrating a high-dose hook effect. J Clin Res Pediatr Endocrinol. 2012 Sep;4(3):151-3. doi:
10.4274/jcrpe.685. Epub 2012 May 2. PubMed PMID: 22664361; PubMed Central PMCID: PMC3459164.

32: Yalcinkaya C, Erturk O, Tuysuz B, Yesil G, Verbeke JI, Keyser B, Stuhrmann M, Steinemann D, Sistermans EA, van der Knaap MS. A novel GJC2 mutation associated
with hypomyelination and Müllerian agenesis syndrome: coincidence or a new entity? Neuropediatrics. 2012 Jun;43(3):159-61. doi: 10.1055/s-0032-1313912. Epub
2012 May 19. PubMed PMID: 22610664.

33: Ekici B, Demir IH, Ocak S, Yeşil G, Tatlı B, Çelebi A. An infant with spinal muscular atrophy and tetrology of Fallot. Clin Neurol Neurosurg. 2012
Sep;114(7):1033-4. doi: 10.1016/j.clineuro.2012.01.049. Epub 2012 Feb 25. PubMed PMID: 22366241.

34: Yesil G, Hatipoglu L, Esteves-Vieira V, Levy N, De Sandre-Giovannoli A, Tüysüz B. Restrictive dermopathy in a Turkish newborn. Pediatr Dermatol. 2011
Jul-Aug;28(4):408-11. doi: 10.1111/j.1525-1470.2010.01296.x. Epub 2010 Dec 2.PubMed PMID: 21121943.

35: Onal H, Bariş S, Ozdil M, Yeşil G, Altun G, Ozyilmaz I, Aydin A, Celkan T. Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in
preventing deafness. Turk J Pediatr. 2009 May-Jun;51(3):301-4. PubMed PMID:19817279.

36: Yüksel A, Yesil G, Aras C, Seven M. Warburg Micro syndrome in a Turkish boy. Clin Dysmorphol. 2007 Apr;16(2):89-93. PubMed PMID: 17351351.

37.Yuksel Adnan, Kayserili Hulya, Yesil Gozde, Apak MemnuneYuksel (2007). Evaluation of mental retardation - Part 1: Etiologic classification of 4659 patients with mental retardation or multiple congenital abnormality and mental retardation. Journal of Pediatric Neurosciences, 2(2), 45, Atıf Sayısı: 3, Doi: 10.4103/1817-1745.36762, (Kontrol No: 1198927) 

38.Yuksel Adnan, Kayserili Hulya, Yesil Gozde, Apak MemnuneYuksel (2007). Evaluation of mental retardation - Part 2: The factors that elucidate the etiologic diagnosis of the patients with mental retardation or multiple ​congenital abnormality and mental retardation. Journal of Pediatric Neurosciences, 2(2), 53, Doi: 10.4103/1817-1745.36763, (Kontrol No: 1198934)

39: Yosunkaya Fenerci E, Değirmenci S, Yeşil G, Yüksel A. Proteus syndrome with agenesis of the rectus abdominis. Br J Dermatol. 2006 Nov;155(5):1094-5. PubMed
PMID: 17034561.

40: Yüksel A, Seven M, Cetincelik U, Yeşil G, Köksal V. Facial dysmorphism in Leigh syndrome with SURF-1 mutation and COX deficiency. Pediatr Neurol. 2006
Jun;34(6):486-9. PubMed PMID: 16765830.

41: Bal E, Park HS, Belaid-Choucair Z, Kayserili H, Naville M, Madrange M, Chiticariu E, Hadj-Rabia S, Cagnard N, Kuonen F, Bachmann D, Huber M, Le Gall C, 
Côté F, Hanein S, Rosti RÖ, Aslanger AD, Waisfisz Q, Bodemer C, Hermine O, Morice-Picard F, Labeille B, Caux F, Mazereeuw-Hautier J, Philip N, Levy N, Taieb
A, Avril MF, Headon DJ, Gyapay G, Magnaldo T, Fraitag S, Crollius HR, Vabres P, Hohl D, Munnich A, Smahi A. Mutations in ACTRT1 and its enhancer RNA elements
lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas. Nat Med. 2017 Oct;23(10):1226-1233. doi: 10.1038/nm.4368. Epub 2017 Sep 4. PubMed PMID: 28869610.

42: Rosti RO, Sotak BN, Bielas SL, Bhat G, Silhavy JL, Aslanger AD, Altunoglu U, Bilge I, Tasdemir M, Yzaguirrem AD, Musaev D, Infante S, Thuong W, Marin-Valencia
I, Nelson SF, Kayserili H, Gleeson JG. Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat
syndrome. J Med Genet. 2017 Jun;54(6):399-403. doi:10.1136/jmedgenet-2016-104237. Epub 2017 Mar 9. PubMed PMID: 28280135.

43: Scott EM, Halees A, Itan Y, Spencer EG, He Y, Azab MA, Gabriel SB, Belkadi A, Boisson B, Abel L, Clark AG; Greater Middle East Variome Consortium, Alkuraya FS,
Casanova JL, Gleeson JG. Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. Nat Genet. 2016 Sep;48(9):1071-6. 
doi: 10.1038/ng.3592. Epub 2016 Jul 18. PubMed PMID: 27428751; PubMed Central PMCID: PMC5019950.

44: Akinci B, Onay H, Demir T, Ozen S, Kayserili H, Akinci G, Nur B, Tuysuz B, Nuri Ozbek M, Gungor A, Yildirim Simsir I, Altay C, Demir L, Simsek E, Atmaca M, 
Topaloglu H, Bilen H, Atmaca H, Atik T, Cavdar U, Altunoglu U, Aslanger A, Mihci E, Secil M, Saygili F, Comlekci A, Garg A. Natural History of Congenital
Generalized Lipodystrophy: A Nationwide Study From Turkey. J Clin Endocrinol Metab. 2016 Jul;101(7):2759-67. doi: 10.1210/jc.2016-1005. Epub 2016 May 4.
PubMed PMID: 27144933.

45: Çomak E, Tüfekçi Ö, Kılıçbay F, Isıyel E, Sever AH, Aslanger A, Ekici B. Febrile seizures in children with familial Mediterranean fever: Coincidence or
association? Eur J Paediatr Neurol. 2015 Sep;19(5):572-6. doi: ​10.1016/j.ejpn.2015.05.004. Epub 2015 May 16. PubMed PMID: 26028444.

46: Cebeci AN, Aslanger A, Ozdemir M. Should patients with Down syndrome be screened for testicular microlithiasis? Eur J Pediatr Surg. 2015
Apr;25(2):177-80. doi: 10.1055/s-0034-1370779. Epub 2014 Apr 4. PubMed PMID: 24705995.

47: Aslanger AD, Altunoglu U, Aslanger E, Satkın BN, Uyguner ZO, Kayserili H. Newly described clinical features in two siblings with MACS syndrome and a novel 
mutation in RIN2. Am J Med Genet A. 2014 Feb;164A(2):484-9. doi: 10.1002/ajmg.a.36277. Epub 2013 Oct 29. Review. PubMed PMID: 24449201.

48: Aslanger AD, Akbulut A, Tokgöz G, Türkmen S, Yararbaş K. First Observation of Hb South Florida [beta 1(NA1) Val>Met] in Turkey. Turk J Haematol. 2013
Jun;30(2):223-4. doi: 10.4274/Tjh.2013.0014. Epub 2013 Jun 5. PubMed PMID:24385794; PubMed Central PMCID: PMC3878459.

49: Kara B, Ekici B, Ipekçi B, Aslanger AK, Scholl U. KCNJ10 gene mutation in an 8-year-old boy with seizures. Acta Neurol Belg. 2013 Mar;113(1):75-7. doi:
10.1007/s13760-012-0113-2. Epub 2012 Jul 11. PubMed PMID: 22782654.

50: Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nürnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD,
Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nürnberg P, Herz J, Temtamy SA, Wollnik B. LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. Am J Hum Genet. 2010 May 14;86(5):696-706. doi: 10.1016/j.ajhg.2010.03.004. Epub 2010 Apr 8. PubMed PMID: 20381006; PubMed Central PMCID: PMC2869043.

51: Kara B, Uzümcü A, Uyguner O, Rosti RO, Koçbaş A, Ozmen M, Kayserili H. Ataxia with vitamin E deficiency associated with deafness. Turk J Pediatr. 2008
Sep-Oct;50(5):471-5. PubMed PMID: 19102053.

52: Duman N, Aktan M, Ozturk S, Palanduz S, Cakiris A, Ustek D, Ozbek U, Nalcaci M, Cefle K. Investigation of Arg399Gln and Arg194Trp polymorphisms of the XRCC1
(x-ray cross-complementing group 1) gene and its correlation to sister chromatid exchange frequency in patients with chronic lymphocytic leukemia. Genet Test Mol Biomarkers. 2012 Apr;16(4):287-91. doi: 10.1089/gtmb.2011.0152. Epub 2011 Nov 22. PubMed PMID: 22106831.

53: Cefle K, Ozturk S, Gozum N, Duman N, Mantar F, Guler K, Palanduz S. Lens opacities in Bloom syndrome: case report and review of the literature. Ophthalmic
Genet. 2007 Sep;28(3):175-8. Review. PubMed PMID: 17896317.