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2. Ballıkaya E, Eymirli PS, Yıldız Y, Avcu N, Sivri HS, Uzamış-Tekçiçek M. Oral health status in patients with mucopolysaccharidoses. Turk J Pediatr. 2018;60(4):400-406. doi: 10.24953/turkjped.2018.04.007

3. Evinç SG, Pektaş E, Foto-Özdemir D, Yıldız Y, Karaboncuk Y, Bilginer-Gürbüz B, Dursun A, Tokatlı A, Coskun T, Öktem F, Sivri HS. Cognitive and behavioral impairment in mild hyperphenylalaninemia. Turk J Pediatr. 2018; 60(6):617-624. doi: 10.24953/turkjped.2018.06.001

4. Yıldız Y, Sivri HS. Maternal phenylketonuria in Turkey: outcomes of 71 pregnancies and issues in management. Eur J Pediatr. 2019;178(7):1005-1011. doi: 10.1007/s00431-019-03387-8.

5. Yıldız Y, Talim B, Haliloglu G, Topaloglu H, Akçören Z, Dursun A, Sivri HS, Coşkun T, Tokatlı A. Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency. Pediatr Neurol. 2019;99:69-75. doi: 10.1016/j.pediatrneurol.2019.06.015.

6. Ballikaya E, Yildiz Y, Sivri HS, Tokatli A, Dursun A, Olmez S, Coskun T, Uzamis Tekcicek M. Oral health status of children with phenylketonuria. J Pediatr Endocrinol Metab. 2020;33(3):361-365. doi: 10.1515/jpem-2019-0439.

7. Yıldız Y, Arslan M, Çelik G, Kasapkara ÇS, Ceylaner S, Dursun A, Sivri HS, Coşkun T, Tokatlı A. Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe. Am J Med Genet A. 2020;182(4):705-712. doi: 10.1002/ajmg.a.61488

8. Yıldız Y, Akcan Yıldız L, Dursun A, Tokatlı A, Coşkun T, Tekşam Ö, Sivri HS. Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency department. Eur J Pediatr. 2020;179(7):1107-1114. doi: 10.1007/s00431-020-03602-x.

9. Saritaş Nakip Ö, Yıldız Y, Tokatlı A. Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations. J Pediatr Endocrinol Metab. 2020;33(6):721-728. doi: 10.1515/jpem-2019-0413.

10. Ballikaya E, Yildiz Y, Koç N, Tokatli A, Uzamis Tekcicek M, Sivri HS. Oral health status of children and young adults with maple syrup urine disease in Turkey. BMC Oral Health. 2021;21(1):8. doi: 10.1186/s12903-020-01376-0.

11. Kuseyri Hübschmann O, Horvath G, Cortès-Saladelafont E, Yıldız Y, Mastrangelo M, Pons R, Friedman J, Mercimek-Andrews S, Wong SN, Pearson TS, Zafeiriou DI, Kulhánek J, Kurian MA, López-Laso E, Oppebøen M, Kılavuz S, Wassenberg T, Goez H, Scholl-Bürgi S, Porta F, Honzík T, Santer R, Burlina A, Sivri HS, Leuzzi V, Hoffmann GF, Jeltsch K, Hübschmann D, Garbade SF; iNTD Registry Study Group, García-Cazorla A, Opladen T. Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines. Nat Commun. 2021;12(1):5529. doi: 10.1038/s41467-021-25515-5.

12. Yıldız Y, Koşukcu C, Aygün D, Akçaboy M, Öztek Çelebi FZ, Taşcı Yıldız Y, Şahin G, Aytekin C, Yüksel D, Lay İ, Özgül RK, Dursun A. Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings. Clin Genet. 2021;100(3):308-317. doi: 10.1111/cge.14002.

13. Kuseyri Hübschmann O, Mohr A, Friedman J, Manti F, Horvath G, Cortès-Saladelafont E, Mercimek-Andrews S, Yildiz Y, Pons R, Kulhánek J, Oppebøen M, Koht JA, Podzamczer-Valls I, Domingo-Jimenez R, Ibáñez S, Alcoverro-Fortuny O, Gómez-Alemany T, de Castro P, Alfonsi C, Zafeiriou DI, López-Laso E, Guder P, Santer R, Honzík T, Hoffmann GF, Garbade SF, Sivri HS, Leuzzi V, Jeltsch K, García-Cazorla A, Opladen T; International Working Group on Neurotransmitter Related Disorders (iNTD), Harting I. Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients. J Inherit Metab Dis. 2021;44(4):1070-1082. doi: 10.1002/jimd.12360.

14. Kahraman AB, Yıldız Y, Çıkı K, Akar HT, Erdal İ, Dursun A, Tokatlı A, Sivri HS. Invisible burden of COVID-19: enzyme replacement therapy disruptions. J Pediatr Endocrinol Metab. 2021;34(5):539-545. doi: 10.1515/jpem-2021-0067

15. Akar HT, Karaboncuk Y, Çıkı K, Kahraman AB, Erdal İ, Coşkun T, Tokatlı A, Dursun A, Yıldız Y, Sivri HS. COVID-19-related anxiety in phenylketonuria patients. Turk J Pediatr. 2021;63(5):790-800. doi: 10.24953/turkjped.2021.05.007

16. Çıkı K, Yıldız Y, Yücel Yılmaz D, Pektaş E, Tokatlı A, Özgül RK, Sivri HS, Dursun A. DNAJC12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant. Metab Brain Dis. 2021;36(6):1405-1410. doi: 10.1007/s11011-021-00753-0.

17. Keller M, Brennenstuhl H, Kuseyri Hübschmann O, Manti F, Julia Palacios NA, Friedman J, Yıldız Y, Koht JA, Wong SN, Zafeiriou DI, López-Laso E, Pons R, Kulhánek J, Jeltsch K, Serrano-Lomelin J, Garbade SF, Opladen T, Goez H; International Working Group on Neurotransmitter related Disorders (iNTD), Burlina A, Cortès-Saladelafont E, Fernández Ramos JA, García-Cazorla A, Hoffmann GF, Kiat Hong ST, Honzík T, Kavecan I, Kurian MA, Leuzzi V, Lücke T, Manzoni F, Mastrangelo M, Mercimek-Andrews S, Mir P, Oppebøen M, Pearson TS, Sivri HS, Steel D, Stevanović G, Fung CW. Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry. J Inherit Metab Dis. 2021;44(6):1489-1502. doi: 10.1002/jimd.12416.

18. Bayrak H, Yıldız Y, Olgaç A, Kasapkara ÇS, Küçükcongar A, Zenciroğlu A, Yüksel D, Ceylaner S, Kılıç M. Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia. Metab Brain Dis. 2021;36(6):1213-1222. doi: 10.1007/s11011-021-00718-3.

19. Dursun A, Yalnizoglu D, Yilmaz DY, Oguz KK, Gülbakan B, Koşukcu C, Akar HT, Kahraman AB, Acar NV, Günbey C, Yildiz Y, Ozgul RK. Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity. Eur J Med Genet. 2021;64(11):104340. doi: 10.1016/j.ejmg.2021.104340.

20. Scala M, Wortmann SB, Kaya N, Stellingwerff MD, Pistorio A, Glamuzina E, van Karnebeek CD, Skrypnyk C, Iwanicka-Pronicka K, Piekutowska-Abramczuk D, Ciara E, Tort F, Sheidley B, Poduri A, Jayakar P, Jayakar A, Upadia J, Walano N, Haack TB, Prokisch H, Aldhalaan H, Karimiani EG, Yildiz Y, Ceylan AC, Santiago-Sim T, Dameron A, Yang H, Toosi MB, Ashrafzadeh F, Akhondian J, Imannezhad S, Mirzadeh HS, Maqbool S, Farid A, Al-Muhaizea MA, Alshwameen MO, Aldowsari L, Alsagob M, Alyousef A, AlMass R, AlHargan A, Alwadei AH, AlRasheed MM, Colak D, Alqudairy H, Khan S, Lines MA, García Cazorla MÁ, Ribes A, Morava E, Bibi F, Haider S, Ferla MP, Taylor JC, Alsaif HS, Firdous A, Hashem M, Shashkin C, Koneev K, Kaiyrzhanov R, Efthymiou S, Genomics QS, Schmitt-Mechelke T, Ziegler A, Issa MY, Elbendary HM, Striano P, Alkuraya FS, Zaki MS, Gleeson JG, Barakat TS, Bierau J, van der Knaap MS, Maroofian R, Houlden H. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Hum Mutat. 2022;43(3):403-419. doi: 10.1002/humu.24326.

21. Vurallı D, Yıldız Y, Ozon A, Dursun A, Gönç N, Tokatlı A, Sivri HS, Alikaşifoğlu A. Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency. J Clin Res Pediatr Endocrinol. 2022;14(3):275-286 doi: 10.4274/jcrpe.galenos.2022.2021-10-14.

22. Capiau S, Smet J, De Paepe B, Yildiz Y, Arslan M, Stevens O, Verschoore M, Stepman H, Seneca S, Vanlander A. Clinical Heterogeneity in MT-ATP6 Pathogenic Variants: Same Genotype-Different Onset. Cells. 2022;11(3):489. doi: 10.3390/cells11030489.

23. Akar HT, Yıldız Y, Güvenkaya G, Çıkı K, Kahraman AB, Erdal İ, Coşkun T, Dursun A, Sivri HS, Tokatlı A. Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients. Balkan Med J. 2022;39(5):345-350. doi: 10.4274/balkanmedj.galenos.2022.2022-3-75.

24. Ozkale Yavuz O, Ayaz E, Yıldız Y, Akgöz Karaosmanoğlu A, Bulut E, Sivri HS, Karlı Oğuz K. Increased ocular wall thickness and decreased globe volume in children with mucopolysaccharidosis type VI. Diagn Interv Radiol. 2022;28(5):516-521. doi: 10.5152/dir.2022.21372

25. Seker Yilmaz B, Baruteau J, Arslan N, Aydin HI, Barth M, Bozaci AE, Brassier A, Canda E, Cano A, Chronopoulou E, Connolly GM, Damaj L, Dawson C, Dobbelaere D, Douillard C, Eminoglu FT, Erdol S, Ersoy M, Fang S, Feillet F, Gokcay G, Goksoy E, Gorce M, Inci A, Kadioglu B, Kardas F, Kasapkara CS, Kilic Yildirim G, Kor D, Kose M, Marelli C, Mundy H, O’Sullivan S, Ozturk Hismi B, Ramachandran R, Roubertie A, Sanlilar M, Schiff M, Sreekantam S, Stepien KM, Uzun Unal O, Yildiz Y, Zubarioglu T, Gissen P. Three-Country Snapshot of Ornithine Transcarbamylase Deficiency. Life 2022,12:1721. doi: 10.3390/life12111721

26. Kahraman AB, Yıldız Y, Çıkı K, Erdal I, Akar HT, Dursun A, Tokatlı A, Sivri S. COVID-19 in inherited metabolic disorders: Clinical features and risk factors for disease severity. Mol Genet Metab 2023;139(2):107607. doi: 10.1016/j.ymgme.2023.107607.

27. Yıldız Y, Kuseyri Hübschmann O, Akgöz Karaosmanoğlu A, Manti F, Karaca M, Schwartz IVD, Pons R, López-Laso E, Palacios NAJ, Porta F, Kavecan I, Balcı MC, Dy-Hollins ME, Wong SN, Oppebøen M, Medeiros LS, de Paula LCP, García-Cazorla A, Hoffmann GF, Jeltsch K, Leuzzi V, Gökçay G, Hübschmann D, Harting I, Özön ZA, Sivri S, Opladen T. Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism. J Inherit Metab Dis. 2023. doi: 10.1002/jimd.12658.

28. Çıkı K, Yıldız Y, Kahraman AB, Özgül RK, Coşkun T, Dursun A, Tokatlı A, Sivri S. Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy. Mol Genet Metab. 2023;140(3):107706. doi: 10.1016/j.ymgme.2023.107706.