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SCI-SSCI or SCI Expanded Articles

Contribution of genotypes in Prothrombin and Factor V Leiden to COVID‐19 and disease severity in patients at high risk for hereditary thrombophilia. Journal of Medical Virology, 95(2), Doi: 10.1002/jmv.28457. (February 2023)

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Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-Generation Sequencing Technique. Atlı Engin, Gürkan Hakan, Güldiken Babürhan, Eker Damla, YALÇINTEPE SİNEM, Demir Selma, Atlı Emine İkbal. Balkan Medical Journal, 40(1), 13-20., Doi: 10.4274/balkanmedj.galenos.2022.2022-7-55. (January 2023)

Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-Generation Sequencing Technique (December 2022)

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium (June 2022)

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Ashari, K. A., Hausmann, J. S., & Dedeoglu, F. (2023). Update on autoinflammatory diseases. Current Opinion in Rheumatology, 35(5), 285-292. (May 2023)
Di Ciaula, A., Iacoviello, M., Bonfrate, L., Khalil, M., Shanmugam, H., Lopalco, G., ... & Stella, A. (2023). Genetic and clinical features of familial mediterranean fever (FMF) in a homogeneous cohort of patients from South-Eastern Italy. European Journal of Internal Medicine. (April 2023)
Vitale A, Caggiano V, Della Casa F, Hernández-Rodríguez J, Frassi M, Monti S, Tufan A, Telesca S, Conticini E, Ragab G, Lopalco G, Almaghlouth I, Pereira RMR, Yildirim D, Cattalini M, Marino A, Giani T, La Torre F, Ruscitti P, Aragona E, Wiesik-Szewczyk E, Del Giudice E, Sfikakis PP, Govoni M, Emmi G, Maggio MC, Giacomelli R, Ciccia F, Conti G, Ait-Idir D, Lomater C, Sabato V, Piga M, Sahin A, Opris-Belinski D, Ionescu R, Bartoloni E, Franceschini F, Parronchi P, de Paulis A, Espinosa G, Maier A, Sebastiani GD, Insalaco A, Shahram F, Sfriso P, Minoia F, Alessio M, Makowska J, Hatemi G, Akkoç N, Li Gobbi F, Gidaro A, Olivieri AN, Al-Mayouf SM, Erten S, Gentileschi S, Vasi I, Tarsia M, Mahmoud AAA, Frediani B, Fares Alzahrani M, Laymouna AH, Ricci F, Cardinale F, Jahnz-Rózyk K, Tosi GM, Crisafulli F, Balistreri A, Dagostin MA, Ghanema M, Gaggiano C, Sota J, Di Cola I, Fabiani C, Giardini HAM, Renieri A, Fabbiani A, Carrer A, Bocchia M, Caroni F, Rigante D, Cantarini L. Development and Implementation of the AIDA International Registry for Patients With VEXAS Syndrome. Front Med (Lausanne). 2022 Jul 11;9:926500. doi: 10.3389/fmed.2022.926500. PMID: 35899212; PMCID: PMC9309690. (July 2022)

Clinical Implications of Chromosome 16 Copy Number Variation (May 2022)
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- Nascimento, L. P. C., Mergener, R., Nunes, M. R., Muniz, V. F., Catao, J. R., Silveira, A. K. B. D., ... & Zen, P. R. G. (2023). 16p11. 2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?. Genes, 14(8), 1583. (August 2023)
- Moschella, A., Capra, A. P., Corica, D., Pepe, G., Di Tommaso, S., Sallicandro, E., ... & Aversa, T. (2023). A novel case of 16q22. 3 duplication syndrome in a child with overgrowth: case report and literature review. BMC Medical Genomics, 16(1), 315. (August 2023)
- Chung, W. K., & Herrera, F. F. (2023). Health Supervision for Children and Adolescents with 16p11. 2 Deletion Syndrome. Molecular Case Studies, mcs-a006316. (June 2023)
- Bai, W., Zhang, Q., Lin, Z., Ye, J., Shen, X., Zhou, L., & Cai, W. (2023). Analysis of copy number variations and possible candidate genes in spontaneous abortion by copy number variation sequencing. Frontiers in Endocrinology, 14. (March 2023)
- Cai M, Que Y, Chen X, Chen Y, Liang B, Huang H, Xu L, Lin N. 16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up. BMC Pregnancy Childbirth. 2022 Dec 7;22(1):913. doi: 10.1186/s12884-022-05267-w. PMID: 36476185; PMCID: PMC9727942. (December 2022)

Prenatal diagnosis and molecular cytogenetic characterization of partial dup (18p)/del (18q) due to a maternal pericentric inversion 18 in a foetus with multiple anomalies (May 2022)

First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25) (February 2022)

Customised targeted massively parallel sequencing enables more precisely diagnosis of patients with epilepsy (February 2022)

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Comprehensive Genetic Analysis of RASopathy in the Era of Next-Generation Sequencing and Definition of a Novel Likely Pathogenic KRAS Variation (January 2022)

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The Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Disease (November 2021)

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Ceylan, G. G., Habiloğlu, E., Çavdarlı, B., Tuncez, E., Bilen, S., Köken, Ö. Y., & Gündüz, C. (2023). High diagnostic yield with algorithmic molecular approach on hereditary neuropathies. Revista da Associação Médica Brasileira, 69, 233-239. (April 2023)
Sarparanta, J., Jonson, P. H., Reimann, J., Vihola, A., Luque, H., Penttilä, S., ... & Udd, B. (2023). Extension of the DNAJB2a isoform in a dominant neuromyopathy family. Human Molecular Genetics, ddad058. (April 2023)
Karakaya T, Turkyilmaz A, Sager G, Inan R, Yarali O, Cebi AH, Akin Y. Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease. Neurogenetics. 2022 Jul;23(3):213-221. doi: 10.1007/s10048-022-00693-6. Epub 2022 May 13. PMID: 35562614. (July 2022)
Bunik VI, Artiukhov AV, Kazantsev AV, Aleshin VA, Boyko AI, Ksenofontov AL, Lukashev NV, Graf AV. Administration of Phosphonate Inhibitors of Dehydrogenases of 2-Oxoglutarate and 2-Oxoadipate to Rats Elicits Target-Specific Metabolic and Physiological Responses. Front Chem. 2022 Jun 20;10:892284. doi: 10.3389/fchem.2022.892284. PMID: 35795216; PMCID: PMC9252169. (June 2022)
Ando M, Higuchi Y, Yuan J, Yoshimura A, Taniguchi T, Kojima F, Noguchi Y, Hobara T, Takeuchi M, Takei J, Hiramatsu Y, Sakiyama Y, Hashiguchi A, Okamoto Y, Mitsui J, Ishiura H, Tsuji S, Takashima H. Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible. Biomedicines. 2022 Jun 29;10(7):1546. doi: 10.3390/biomedicines10071546. PMID: 35884855; PMCID: PMC9312503. (June 2022)
Tedesco B, Cristofani R, Ferrari V, Cozzi M, Rusmini P, Casarotto E, Chierichetti M, Mina F, Galbiati M, Piccolella M, Crippa V, Poletti A. Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases. Front Mol Biosci. 2022 Feb 25;9:842149. doi: 10.3389/fmolb.2022.842149. PMID: 35281256; PMCID: PMC8913478. (February 2022)

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population (October 2021)

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Yoon, J. G., Yu, J. W., Shim, K. W., Kim, Y. O., & Lee, M. G. (2023). Multi-locus pathogenic variation identified in a patient with craniosynostosis. American Journal of Medical genetics. Part A. (September 2023)
Gezdirici, A., Kalaycik Şengül, Ö., Doğan, M., Özgüven, B. Y., & Akbulut, E. (2023). Biallelic novel USP53 splicing variant disrupting the gene function that causes cholestasis phenotype and review of the literature. Molecular Syndromology, 13(6), 471-484. (September 2023)
Calame, D. G., Guo, T., Wang, C., Garrett, L., Jolly, A., Dawood, M., ... & Lupski, J. R. (2023). Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. The American Journal of Human Genetics, 110(8), 1394-1413. (August 2023)
Zhang, X., Xiao, N., Cao, Y., Peng, Y., Lian, A., Chen, Y., ... & Shu, L. (2023). De novo variants in MAST4 related to neurodevelopmental disorders with developmental delay and infantile spasms: Genotype-phenotype association. Frontiers in Molecular Neuroscience, 16, 1097553. (July 2023)
Susgun, S., Kesim, Y., Khalilov, D., Sirin, N. G., Gezegen, H., Salman, B., ... & Bebek, N. (2023). Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder. Neurological Sciences, 1-14. (June 2023)
Bellido-Cuéllar, S., de la Fuente, R. P., Lezana-Rosales, J. M., Sánchez-Calvín, M. T., Saiz-Díaz, R. A., & de la Aleja, J. G. (2023). Epilepsy and Autism spectrum disorder caused by a pathogenic variant in TNRC6B. Seizure: European Journal of Epilepsy. (June 2023)
Bogaert, E., Garde, A., Gautier, T., Rooney, K., Duffourd, Y., LeBlanc, P., ... & Vitobello, A. (2023). SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. The American Journal of Human Genetics, 110(5), 790-808. (June 2023)
Gowda, V. K., Reddy, V. S., Srinivasan, V. M., & Vamyanmane, D. K. The Combined Neurogenetic Disorders; Blended Phenotype of Metachromatic Leukodystrophy (MLD) and Glutaric Aciduria Type 1 (GA-1) in an Indian Child. Annals of Indian Academy of Neurology, 10-4103. (May 2023)
Lecca, M., Pehlivan, D., Suñer, D. H., Weiss, K., Coste, T., Zweier, M., ... & Errichiello, E. (2023). Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage. The American Journal of Human Genetics, 110(4), 681-690. (April 2023)
Du, H., Dardas, Z., Jolly, A., Grochowski, C. M., Jhangiani, S. N., Li, H., ... & Lupski, J. R. (2023). HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic Acids Research, gkad1223. (April 2023)
Susgun, S., Yucesan, E., Goncu, B., Hasanoglu Sayin, S., Kina, U. Y., Ozgul, C., ... & Ugur Iseri, S. A. (2023). Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring. Neurological Sciences, 1-7. (March 2023)
Dawood, M., Akay, G., Mitani, T., Marafi, D., Fatih, J. M., Gezdirici, A., ... & Lupski, J. R. (2023). A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American Journal of Medical Genetics Part A, 191(3), 794-804. (March 2023)
Faqeih, E. A., Alghamdi, M. A., Almahroos, M. A., Alharby, E., Almuntashri, M., Alshangiti, A. M., ... & Almontashiri, N. A. (2023). Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome. Genetics in Medicine, 25(2), 100323. (February 2023)
Wu, D., Zhu, J., You, L., Wang, J., Zhang, S., Liu, Z., ... & Chi, X. (2023). NRXN1 depletion in the medial prefrontal cortex induces anxiety-like behaviors and abnormal social phenotypes along with impaired neurite outgrowth in rat. Journal of Neurodevelopmental Disorders, 15(1), 1-14. (January 2023)
Badawi, A., Magliyah, M., Alabbasi, O., AlAbdi, L., Alkuraya, F. S., Schatz, P., ... & Mura, M. (2023). Cone dystrophy associated with autoimmune polyglandular syndrome type 1. Scientific reports, 13(1), 11223. (January 2023)
Biallelic Novel USP53 Splicing Variant Disrupting the Gene Function that Causes Cholestasis Phenotype and Review of the Literature Gezdirici A.a · Kalaycik Şengül Ö.b · Doğan M.a · Özgüven B.Y.c · Akbulut E.d Author affiliations Keywords: USP53CholestasisHomology modelingWhole-exome sequencingGenotype-phenotype correlation Mol Syndromol 2022;13:471–484 (December 2022)
Correia-Costa GR, Dos Santos AM, de Leeuw N, Rigatto SZP, Belangero VMS, Steiner CE, Gil-da-Silva-Lopes VL, Vieira TP. Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review. Genes (Basel). 2022 Dec 16;13(12):2377. doi: 10.3390/genes13122377. PMID: 36553645; PMCID: PMC9778442. (December 2022)
Chander V, Mahmoud M, Hu J, Dardas Z, Grochowski CM, Dawood M, Khayat MM, Li H, Li S, Jhangiani S, Korchina V, Shen H, Weissenberger G, Meng Q, Gingras MC, Muzny DM, Doddapaneni H, Posey JE, Lupski JR, Sabo A, Murdock DR, Sedlazeck FJ, Gibbs RA. Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism. Hum Mutat. 2022 Dec;43(12):2033-2053. doi: 10.1002/humu.24461. Epub 2022 Sep 24. PMID: 36054313. (December 2022)
Faqeih EA, Alghamdi MA, Almahroos MA, Alharby E, Almuntashri M, Alshangiti AM, Clément P, Calame DG, Qebibo L, Burglen L, Doco-Fenzy M, Mastrangelo M, Torella A, Manti F, Nigro V, Alban Z, Alharbi GS, Hashmi JA, Alraddadi R, Alamri R, Mitani T, Magalie B, Coban-Akdemir Z, Geckinli BB, Pehlivan D, Romito A, Karageorgou V, Martini J, Colin E, Bonneau D, Bertoli-Avella A, Lupski JR, Pastore A, Peake RWA, Dallol A, Alfadhel M, Almontashiri NAM. Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome. Genet Med. 2022 Nov 18:S1098-3600(22)00987-X. doi: 10.1016/j.gim.2022.10.006. Epub ahead of print. PMID: 36401616. (November 2022)
Khalaf-Nazzal R, Fasham J, Inskeep KA, Blizzard LE, Leslie JS, Wakeling MN, Ubeyratna N, Mitani T, Griffith JL, Baker W, Al-Hijawi F, Keough KC, Gezdirici A, Pena L, Spaeth CG, Turnpenny PD, Walsh JR, Ray R, Neilson A, Kouranova E, Cui X, Curiel DT, Pehlivan D, Akdemir ZC, Posey JE, Lupski JR, Dobyns WB, Stottmann RW, Crosby AH, Baple EL. Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. Am J Hum Genet. 2022 Nov 3;109(11):2068-2079. doi: 10.1016/j.ajhg.2022.09.012. Epub 2022 Oct 24. PMID: 36283405; PMCID: PMC9674946. (October 2022)
Duan R, Hijazi H, Gulec EY, Eker HK, Costa SR, Sahin Y, Ocak Z, Isikay S, Ozalp O, Bozdogan S, Aslan H, Elcioglu N, Bertola DR, Gezdirici A, Du H, Fatih JM, Grochowski CM, Akay G; Baylor-Hopkins Center for Mendelian Genomics; Jhangiani SN, Karaca E, Gu S, Coban-Akdemir Z, Posey JE, Bayram Y, Sutton VR, Carvalho CMB, Pehlivan D, Gibbs RA, Lupski JR. Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability. HGG Adv. 2022 Aug 4;3(4):100132. doi: 10.1016/j.xhgg.2022.100132. PMID: 36035248; PMCID: PMC9403727. (August 2022)
Dai P, Honda A, Ewans L, McGaughran J, Burnett L, Law M, Phan TG. Recommendations for next generation sequencing data reanalysis of unsolved cases with suspected Mendelian disorders: A systematic review and meta-analysis. Genet Med. 2022 Aug;24(8):1618-1629. doi: 10.1016/j.gim.2022.04.021. Epub 2022 May 14. PMID: 35550369. (August 2022)
Manor J, Calame D, Gijavanekar C, Fisher K, Hunter J, Mizerik E, Bacino C, Scaglia F, Elsea SH. NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction. Mol Genet Metab. 2022 Jun;136(2):101-110. doi: 10.1016/j.ymgme.2022.04.003. Epub 2022 Apr 18. PMID: 35637064. (June 2022)
Kingsmore SF, Cole FS. The Role of Genome Sequencing in Neonatal Intensive Care Units. Annu Rev Genomics Hum Genet. 2022 Aug 31;23:427-448. doi: 10.1146/annurev-genom-120921-103442. Epub 2022 Jun 8. PMID: 35676073. (June 2022)
Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine, Trends in Genetics, Volume 38, Issue 6, 2022, Pages 554-571, ISSN 0168-9525, (June 2022)
Almannai M, Marafi D, Abdel-Salam GMH, Zaki MS, Duan R, Calame D, Herman I, Levesque F, Elbendary HM, Hegazy I, Chung WK, Kavus H, Saeidi K, Maroofian R, AlHashim A, Al-Otaibi A, Al Madhi A, Abou Al-Seood HM, Alasmari A, Houlden H, Gleeson JG, Hunter JV, Posey JE, Lupski JR, El-Hattab AW. El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. Clin Genet. 2022 May;101(5-6):530-540. doi: 10.1111/cge.14132. Epub 2022 Apr 12. PMID: 35322404; PMCID: PMC9359317. (May 2022)
Xuyu Qian, Ellen M. DeGennaro, Maya Talukdar, Shyam K. Akula, Abbe Lai, Diane D. Shao, Dilenny Gonzalez, Jack H. Marciano, Richard S. Smith, Norma K. Hylton, Edward Yang, J. Fernando Bazan, Lee Barrett, Rebecca C. Yeh, R. Sean Hill, Samantha G. Beck, Aoi Otani, Jolly Angad, Tadahiro Mitani, Jennifer E. Posey, Davut Pehlivan, Daniel Calame, Hatip Aydin, Osman Yesilbas, Kendall C. Parks, Emanuela Argilli, Eleina England, Kiho Im, Ajay Taranath, Hamish S. Scott, Christopher P. Barnett, Peer Arts, Elliott H. Sherr, James R. Lupski, Christopher A. Walsh, Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis, Developmental Cell, Volume 57, Issue 20, 2022, Pages 2381-2396.e13, ISSN 1534-5807, (May 2022)
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia Daniel G. Calame MD, PhD, Isabella Herman MD, PhD, Reza Maroofian PhD, Aren E. Marshall PhD, Karina Carvalho Donis MD, Jawid M. Fatih BS, Tadahiro Mitani MD, PhD … See all authors First published: 26 April 2022 https://doi.org/10.1002/ana.26381 (April 2022)
Abdel-Salam GMH, Duan R, Abdel-Hamid MS, Sayed ISM, Jhangiani SN, Khan Z, Du H, Gibbs RA, Posey JE, Marafi D, Lupski JR. Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait. Am J Med Genet A. 2022 Feb;188(2):648-657. doi: 10.1002/ajmg.a.62561. Epub 2021 Nov 10. PMID: 34761517. (February 2022)
Dawood M, Akay G, Mitani T, Marafi D, Fatih JM, Gezdirici A, Najmabadi H, Kahrizi K, Punetha J, Grochowski CM, Du H, Jolly A, Li H, Coban-Akdemir Z, Sedlazeck FJ, Hunter JV, Jhangiani SN, Muzny D, Pehlivan D, Posey JE, Carvalho CMB, Gibbs RA, Lupski JR. A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. Am J Med Genet A. 2023 Jan 4. doi: 10.1002/ajmg.a.63080. Epub ahead of print. PMID: 36598158. (January 2022)

The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region (August 2021)

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Gökçay Canpolat, A., Keskin, Ç., Aydoğan, B. İ., Güllü, S., Demir, Ö., Şahin, M., ... & Başkal, N. (2023). Maturity-onset diabetes of the young (MODY)-related genetic variants in a Turkish patient cohort with early-onset diabetes: a cross-sectional study. International Journal of Diabetes in Developing Countries, 43(2), 244-251. (February 2023)
Sun, S., Gong, S., Li, M., Wang, X., Wang, F., Cai, X., ... & Ji, L. (2023). Clinical and genetic characteristics of CEL-MODY (MODY8): a literature review and screening in Chinese individuals diagnosed with early-onset type 2 diabetes. Endocrine, 1-11. (January 2023)
Scoville DW, Jetten AM. GLIS3: A Critical Transcription Factor in Islet β-Cell Generation. Cells. 2021 Dec 9;10(12):3471. doi: 10.3390/cells10123471. PMID: 34943978; PMCID: PMC8700524. (December 2022)
Zamanfar D, Ferdosipour F, Ebrahimi P, Moghadam M, Amoli MM, Asadi M, Monajati M. Study of the frequency and clinical features of maturity-onset diabetes in the young in the pediatric and adolescent diabetes population in Iran. J Pediatr Endocrinol Metab. 2022 Sep 15;35(10):1240-1249. doi: 10.1515/jpem-2022-0390. PMID: 36100423. (September 2022)
Doğan M, Eröz R, Bolu S, Yüce H, Gezdirici A, Arslanoğlu İ, Teralı K. Study of ten causal genes in Turkish patients with clinically suspected maturity-onset diabetes of the young (MODY) using a targeted next-generation sequencing panel. Mol Biol Rep. 2022 Aug;49(8):7483-7495. doi: 10.1007/s11033-022-07552-5. Epub 2022 Jun 22. PMID: 35733065. (August 2022)
Zorena K, Michalska M, Kurpas M, Jaskulak M, Murawska A, Rostami S. Environmental Factors and the Risk of Developing Type 1 Diabetes-Old Disease and New Data. Biology (Basel). 2022 Apr 16;11(4):608. doi: 10.3390/biology11040608. PMID: 35453807; PMCID: PMC9027552. (April 2022)
Gökçay Canpolat, A., Keskin, Ç., Aydoğan, B.İ. et al. Maturity-onset diabetes of the young (MODY)-related genetic variants in a Turkish patient cohort with early-onset diabetes: a cross-sectional study. Int J Diabetes Dev Ctries (2022). https://doi.org/10.1007/s13410-022-01052-9 (March 2022)
Aydogan HY, Gul N, Demirci DK, Mutlu U, Gulfidan G, Arga KY, Ozder A, Camli AA, Tutuncu Y, Ozturk O, Cacina C, Darendeliler F, Poyrazoglu S, Satman I. Precision Diagnosis of Maturity-Onset Diabetes of the Young with Next-Generation Sequencing: Findings from the MODY-IST Study in Adult Patients. OMICS. 2022 Apr;26(4):218-235. doi: 10.1089/omi.2022.0006. Epub 2022 Mar 23. PMID: 35333605. (March 2022)
Lee IC, Yang JJ, Liou YM, Wong SH. KCNQ2 Selectivity Filter Mutations Cause Kv7.2 M-Current Dysfunction and Configuration Changes Manifesting as Epileptic Encephalopathies and Autistic Spectrum Disorders. Cells. 2022 Mar 5;11(5):894. doi: 10.3390/cells11050894. PMID: 35269516; PMCID: PMC8909571. (March 2022)

Pros and Cons for Fluorescent in Situ Hybridization, Karyotyping and Next Generation Sequencing for Diagnosis and Follow-up of Multiple Myeloma (March 2021)

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Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report (March 2021)

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Ríos, F. A. B., Rodríguez-Fernández, L. F., Arciniegas, N. J., Cornier, A. S., & Carlo, S. (2023). Pathogenic Presentation of a Variant of Uncertain Significance in a Puerto Rican Patient With Wiedemann-Steiner Syndrome. Cureus, 15(4). (April 2023)
Lin, Y., Chen, X., Xie, B., Guan, Z., Chen, X., Li, X., ... & Zeng, C. (2023). Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome. Frontiers in Genetics, 14, 1085210. (March 2023)
Buchanan K, Greenup E, Hurst ACE, Sunil B, Ashraf AP. Case report: 11-ketotestosterone may potentiate advanced bone age as seen in some cases of Wiedemann-Steiner Syndrome. Front Endocrinol (Lausanne). 2022 Oct 3;13:1004114. doi: 10.3389/fendo.2022.1004114. PMID: 36263329; PMCID: PMC9574220. (October 2022)
Yu H, Zhang G, Yu S, Wu W. Wiedemann-Steiner Syndrome: Case Report and Review of Literature. Children (Basel). 2022 Oct 12;9(10):1545. doi: 10.3390/children9101545. PMID: 36291481; PMCID: PMC9600770. (October 2022)
Shangguan H, Chen R. Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review. Front Pediatr. 2022 Jul 22;10:940294. doi: 10.3389/fped.2022.940294. PMID: 35935361; PMCID: PMC9355708. (July 2022)
Taha I, De Paoli F, Foroni S, Zucca S, Limongelli I, Cipolli M, Danesino C, Ramenghi U, Minelli A. Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene. Genes (Basel). 2022 Jul 23;13(8):1314. doi: 10.3390/genes13081314. PMID: 35893049; PMCID: PMC9394309. (July 2022)

Novel c.1505_1509dupCTGCC pathogenic variation in a male case with Christianson syndrome (January 2021)

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Targeted High-Throughput Sequencing Analysis Results of Osteogenesis Imperfecta Patients from Different Regions of Turkey (January 2021)

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The Importance of Targeted Next-Generation Sequencing Usage in Cytogenetically Normal Myeloid Malignancies (January 2021)

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Demir S, Gürkan H, Öz V, Yalçıntepe S, Atlı E, İ, Atlı E: Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report. Mol Syndromol 2020. doi: 10.1159/000511971 (December 2020)

Yalcintepe S, Gurkan H. Novel c.1505_1509dupCTGCC pathogenic variation in a male case with Christianson syndrome. Clin Dysmorphol. 2021 Jan;30(1):36-38. doi: 10.1097/MCD.0000000000000358. PMID: 33278113 (December 2020)

Atli EI, Yalcintepe S, Atli E, Demir S, Mail C, Eker D, Kalkan R, Gurkan H. A Pilot Study of Identification Genetic Background of Craniosynostosis Cases in Turkey. J Craniofac Surg. 2020 Nov 25. doi: 10.1097/SCS.0000000000007285. (November 2020)

Two Cystic Fybrosis Cases with Firstly Reported Compund Heterozygous Variants. Sinem Yalçıntepe, Hakan Gürkan, Engin Atlı, Niyazi Cenk Sayın, Ümit Nusret Başaran DOI : 10.4274/balkanmedj.galenos.2020.2019.11.128 (August 2020)

Selma Demir, Hilmi Tozkir, Hakan Gurkan, E. Ikbal Atli, Sinem Yalcintepe, Engin Atli, Y. Atakan Sezer, Damla Eker, Nermin Tuncbilek, Ebru Tastekin, Yasemin Ozen, Irfan Cicin. Genetic screening results of individuals with high risk BRCA-related breast/ovarian cancer in Trakya region of Turkey. JBUON 2020; 25(3): 1337-1347. (July 2020)

Yalcintepe S, Atli E, I, Atli E, Demir S, Ciftdemir N, A, Duran R, Ozdemir J, Gurkan H. Distal 3p Duplication and 22q13.3 Deletion with Severe Hypotonia Originating from a Paternal Balanced Translocation (3;22). Mol Syndromol 2020;11:162-169. doi: 10.1159/000508646. (July 2020)

Emine Ikbal Atli, Sinem Yalcintepe, Engin Atli, Selma Demir, Hakan Gurkan. A Child with 5q Deletion and Accompanying Chiari 1 Malformation. The Indian Journal of Pediatrics https://doi.org/10.1007/s12098-020-03451-4. (July 2020)

Genetic screening results of individuals with high risk BRCA-related breast/ovarian cancer in Trakya region of Turkey (May 2020)

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Janíková, K., Váňová, B., Grendár, M., Samec, M., Loderer, D., Kašubová, I., ... & Plank, L. (2023). Small-scale variants and large deletions in BRCA1/2 genes in Slovak high-grade serous ovarian cancer. Pathology-Research and Practice, 246, 154475. (April 2023)
Karakaya, T., & Kocaaga, A. (2023). Molecular profiling of BRCA1 and BRCA2 genes in Turkish patients with early-onset breast cancer. Egyptian Journal of Medical Human Genetics, 24(1), 60. (January 2023)
Bora E, Caglayan AO, Koc A, Cankaya T, Ozkalayci H, Kocabey M, Kemer D, Aksoy S, Alicikus ZA, Akin IB, Durak MG, Gurel D, Yavuzsen T, Sevinc A, Somali I, Gorken I, Balci P, Karaoglu A, Saydam S, Ulgenalp A. Evaluation of hereditary/familial breast cancer patients with multigene targeted next generation sequencing panel and MLPA analysis in Turkey. Cancer Genet. 2022 Apr;262-263:118-133. doi: 10.1016/j.cancergen.2022.02.006. Epub 2022 Feb 16. PMID: 35220195. (April 2022)
Vidra R, Ciuleanu TE, Nemeș A, Pascu O, Heroiu AM, Antone N, Vidrean AI, Oprean CM, Pop LA, Berindan-Neagoe I, Eniu R, Eniu A. Spectrum of BRCA1/2 Mutations in Romanian Breast and Ovarian Cancer Patients. Int J Environ Res Public Health. 2022 Apr 4;19(7):4314. doi: 10.3390/ijerph19074314. PMID: 35409996; PMCID: PMC8998351. (April 2022)
Kasugai Y, Kohmoto T, Taniyama Y, Koyanagi YN, Usui Y, Iwase M, Oze I, Yamaguchi R, Ito H, Imoto I, Matsuo K. Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study. Cancer Sci. 2022 Apr;113(4):1451-1462. doi: 10.1111/cas.15312. Epub 2022 Mar 7. PMID: 35218119; PMCID: PMC8990868. (April 2022)
Williams MS. Population Screening in Health Systems. Annu Rev Genomics Hum Genet. 2022 Aug 31;23:549-567. doi: 10.1146/annurev-genom-111221-115239. Epub 2022 Feb 17. PMID: 35175786. (February 2022)

Sinem Yalcintepe, Hakan Gurkan, Selma Demir, Hilmi Tozkir, Huseyin Ahmet Tezel, Emine Ikbal Atli, Engin Atli, Damla Eker, Irfan Cicin. Targeted next-generation sequencing as a diagnostic tool in gastrointestinal system cancer/polyposis. Tumori Journal. https://doi.org/10.1177/0300891620919171. (May 2020)

Hakan Gürkan, Emine İkbal Atli, Engin Atlı, Leyla Bozatlı, Mengühan Araz Altay, Sinem Yalçıntepe, Yasemin Özen, Damla Eker, Çisem Mail, Selma Demir, Işık Görker. Routine Chromosomal Microarray Analysis Is Necessary in Turkish Patients with Unexplained Developmental Delay/Intellectual Disability Disorder. DOI : 10.29399/npa.24890 (April 2020)

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Atli E, I, Atli E, Yalcintepe S, Gurkan H: A Rare Case of Mosaic Unbalanced Non-Robertsonian Translocation Involving Chromosomes 15 and 22 with Congenital Abnormalities in Monozygotic Twins. Mol Syndromol 2019;10:320-326. doi: 10.1159/000505004 (January 2020)

A novel nonsense mutation of the CYLD gene in a Turkish family with multiple familial trichoepithelioma (December 2019)

A case with isochromosome 18p and 2q13 deletion including the BUB1 gene. Ayaz A, Topak A, Yalcintepe S, Celik T, Yararbas K, Eser M, Yuregir OO. Clin Dysmorphol. 2018 Jul;27(3):101-104. doi: 10.1097/MCD.0000000000000223. (May 2018)

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The TWIST2 mutation causes Setleis syndrome a rare clinical case report

Detection of α-Thalassemia by Using Multiplex Ligation-Dependent Probe Amplification as an Additional Method for Rare Mutations in Southern Turkey (December 2016)

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Multiple Inherited Thrombophilic Gene Polymorphisms in Spontaneous Abortions in Turkish Population By: Yalcintepe, Sinem; Ozdemir, Ozturk; Hacivelioglu, Servet Ozden; et al. INTERNATIONAL JOURNAL OF MOLECULAR AND CELLULAR MEDICINE Volume: 4 Issue: 2 Pages: 120-127 Published: SPR 2015 (September 2015)

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Donmez, H. G., & Beksac, M. S. (2023). Association of single nucleotide polymorphisms (4G/5G) of plasminogen activator inhibitor-1 and the risk factors for placenta-related obstetric complications. Blood Coagulation & Fibrinolysis, 34(6), 396-402. (June 2023)
Miljanović, O., Ilić, V., Teofilov, S., Cikota-Aleksić, B., & Magić, Z. (2023). Polymorphisms of ACE and thrombophilic genes: risk for recurrent pregnancy loss. Journal of Clinical Pathology, 76(12), 832-838. (April 2023)
Miljanović O, Ilić V, Teofilov S, et alPolymorphisms of ACE and thrombophilic genes: risk for recurrent pregnancy lossJournal of Clinical Pathology Published Online First: 08 September 2022. doi: 10.1136/jcp-2021-208057 (September 2022)
Turkey, Eman F., Abbas G. Hamad, and Abbas K. AL-Mansoori. "The Association of Prothrombin Gene Mutations and Cytomegalovirus Infection with Abortion Among Iraqi Women." Baghdad Science Journal (2022): 0768-0768. (April 2022)
Association of Angiotensin-Converting Enzyme Insertion/Deletion Polymorphism with Recurrent Pregnancy Loss: a Meta-Analysis of 26 Case-Control Studies (October 2018)
Association between thrombophilia gene polymorphisms and recurrent pregnancy loss risk in the Iranian population (April 2018)
Uticaj polimorfizma C677T gena za metilen-tetrahidrofolat reduktazu na nastanak spontanih pobačaja (February 2018)
Thrombophilic Status of Extracted Fetal Tissues of Spontaneously Aborted Embroys By: Pala, Elif; Karaoguz, Meral Yirmibes; Balabanli, Barbaros Kanuni; et al. GAZI MEDICAL JOURNAL Volume: 28 Issue: 1 Pages: 35-38 Published: 2017

Relationship Between Response to Colchicine Treatment and MDR1 Polymorphism in Familial Mediterranean Fever Patients

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Increased T-allele frequency of 677 C>T polymorphism in the methylenetetrahydrofolate reductase gene in differentiated thyroid carcinoma. (July 2012)

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Recurrent Pregnancy Loss and Its Relation to Combined Parental Thrombophilic Gene Mutations (April 2012)

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Kashifard, M., Basirat, Z., Ramezani, F., Ghofrani, F., & Golsorkhtabaramiri, M. (2023). Combined Parental Thrombophilia Gene Mutation Defects in Couples with Repeated Pregnancy Loss. Journal of Human Reproductive Sciences, 16(4), 352-357. (December 2023)
Association of single nucleotide polymorphisms (4G/5G) of plasminogen activator inhibitor-1 and the risk factors for placenta-related obstetric complications HG Donmez, MS Beksac - Blood Coagulation & Fibrinolysis, 2023 - journals.lww.com (September 2023)
Cargnin, S., Agnusdei, F., Shin, J. I., & Terrazzino, S. (2023). Maternal ApoE genotype and risk of recurrent pregnancy loss: An updated systematic review and meta‐analysis. The Journal of Gene Medicine, 25(3), e3467. (June 2023)
Thrombophilic gene polymorphisms and recurrent pregnancy loss: a systematic review and meta-analysis. Y Wen, H He, K Zhao - Journal of Assisted Reproduction and Genetics, 2023 - Springer (June 2023)
Kashifard, M., Basirat, Z., Ramezani, F., Ghofrani, F., & Golsorkhtabaramiri, M. (2023). Combined Parental Thrombophilia Gene Mutation Defects in Couples with Repeated Pregnancy Loss. Journal of Human Reproductive Sciences, 16(4), 352-357. (May 2023)
Understanding recurrent pregnancy loss: recent advances on its etiology, clinical diagnosis, and management C Cao, S Bai, J Zhang, X Sun, A Meng, H Chen - Medical Review (December 2022)
Maternal ApoE genotype and risk of recurrent pregnancy loss: An updated systematic review and meta‐analysis S Cargnin, F Agnusdei, JI Shin… - The Journal of Gene Medicine (December 2022)
The role of plasminogen activator inhibitor type 1 (PAI-1) in placenta-mediated pregnancy complications: a systematic review I Agersnap, PH Nissen, AM Hvas - Seminars in Thrombosis (July 2022)
H1299R Variant in Factor V and Recurrent Pregnancy Loss: A Systematic Review and Meta-Analysis Protocol A Ardizzone, AP Capra, S Mondello, S Briuglia… - Genes (June 2022)
MTHFR 1298A> C substitution is a strong candidate for analysis in recurrent pregnancy loss: evidence from 14,289 subjects P Mehta, R Vishvkarma, K Singh, S Rajender - Reproductive Sciences (April 2022)
Factor V H1299r (Hr2) Heterozygosity: A Risk Factor For Recurrent Implantation Failure Particularly In Non-Carriers For Factor V Leiden Mutation-A Case-Control … AS Ozgu-Erdinc, PG Coban, N Yilmaz… - Gynecology Obstetrics and Reproductive Medicine (March 2022)
The role of plasminogen activator inhibitor-1 in gynecological and obstetrical diseases: An update review J Zhai, Z Li, Y Zhou, X Yang - Journal of Reproductive Immunology (March 2022)
The powerful association of angiotensin-converting enzyme insertion/deletion polymorphism and idiopathic recurrent pregnancy loss (October 2018)
Association of Angiotensin-Converting Enzyme Insertion/Deletion Polymorphism with Recurrent Pregnancy Loss: a Meta-Analysis of 26 Case-Control Studies (October 2018)
Investigating Association of rs5918 Human Platelets Antigen 1 and rs1800790 Fibrinogen β Chain as Critical Players with Recurrent Pregnancy Loss (October 2018)
Association Between - 675 ID, 4G/5G PAI-1 Gene Polymorphism and Pregnancy Loss: A Systematic Review (October 2018)
Impact of maternal methylenetetrahydrofolate reductase C677T polymorphism on intervillous and decidual pathology with pregnancy loss (August 2018)
The association between cardiovascular disease gene mutations and recurrent pregnancy loss in the Lebanese population (July 2018)
First Bosnian Study of the Relationship between APOE rs7412 and rs429358 Variants and Pregnancy Loss (May 2018)
Genetic and epigenetic variations associated with idiopathic recurrent pregnancy loss (March 2018)
Plasminogen Activator Inhibitor-1 Polymorphism Confers a Genetic Contribution to the Risk of Recurrent Spontaneous Abortion: An Updated Meta-Analysis Huang, Zhan; Tang, Wenqian; Liang, Zhikun; et al. REPRODUCTIVE SCIENCES Volume: 24 Issue: 11 Pages: 1551-1560 Published: NOV 2017 (November 2017)
Association of Methylenetetrahydrofolate Reductase C677T and A1298C Gene Polymorphisms With Recurrent Pregnancy Loss in Syrian Women Al-Achkar, Walid; Wafa, Abdulsamad; Ammar, Samer; et al. REPRODUCTIVE SCIENCES Volume: 24 Issue: 9 Pages: 1275-1279 Published: SEP 2017 (September 2017)
Inherited thrombophilias could influence the reproductive outcome in women with systemic lupus erythematosus Robeva, R.; Tanev, D.; Andonova, S.; et al. BALKAN JOURNAL OF MEDICAL GENETICS Volume: 20 Issue: 1 Pages: 21-26 Published: JUN 2017 (June 2017)
Possible association between germline methylenetetrahydrofolate reductase gene polymorphisms and psoriasis risk in a Turkish population Kilic, S.; Ozdemir, O.; Silan, F.; et al. CLINICAL AND EXPERIMENTAL DERMATOLOGY Volume: 42 Issue: 1 Pages: 8-13 Published: JAN 2017 (January 2017)
Lack of association between I/D ACE and -675 ID 4G / 5G PAI-1 polymorphisms and predicting risk of pregnancy loss (PROPALO) in Bosnian women

Demirel Y, Dogan S, Uludag A, Silan C, Atik S, Silan F, Ozdemir O. Combined effect of Factor V Leiden, MTHFR, and angiotensin-converting enzyme (insertion/deletion) gene mutations in hypertensive adult individuals: a population-based study from Sivas and Canakkale, Turkey. Genet Test Mol Biomarkers. 2011 Nov;15(11):785-91. doi: 10.1089/gtmb.2011.0044. Epub 2011 Jun 23. PMID: 21699409. (November 2011)

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Combined point mutations in codon 12 and 13 of KRAS oncogene in prostate carcinomas (May 2011)
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- Chen X, Sheng L, Ma J, Qi D, Li X, Wang Z, Wu Z, Wong L, Huang JH, Wu E, Ma Q, Zhang D. 4-(Methylnitrosamino)-1-(3-pyridyl)-1-butanone provokes progression from chronic pancreatitis to pancreatic intraepithelial neoplasia. iScience. 2021 Dec 18;25(1):103647. doi: 10.1016/j.isci.2021.103647. PMID: 35028532; PMCID: PMC8741524. (January 2022)
- Mutant Kras-induced upregulation of CD24 enhances prostate cancer stemness and bone metastasis (November 2018)

Association between ABCB1 (MDR1) Gene 3435 C>T Polymorphism and Colchicine Unresponsiveness of FMF Patients

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Hasan, D. A. M., Sahib, A. S., Al-Rokan, A. A. H., & Mohsin, K. K. (2023). Study of the Genetic Polymorphisms of ABCB1 3435G> A in Postmenopausal Women Breast Cancer on Paclitaxel Chemotherapy. Journal of Contemporary Medical Sciences, 9(3). (May 2023)
Zarrabi, A., Perrin, D., Kavoosi, M., Sommer, M., Sezen, S., Mehrbod, P., ... & Ghavami, S. (2023). Rhabdomyosarcoma: Current Therapy, Challenges, and Future Approaches to Treatment Strategies. Cancers, 15(21), 5269. (May 2023)
Poddighe D, Romano M, Garcia-Bournissen F, Demirkaya E. Conventional and novel therapeutic options in children with familial Mediterranean fever: A rare autoinflammatory disease. Br J Clin Pharmacol. 2022 Jun;88(6):2484-2499. doi: 10.1111/bcp.15149. Epub 2021 Dec 10. PMID: 34799863. (June 2022)
Robinson PC, Terkeltaub R, Pillinger MH, Shah B, Karalis V, Karatza E, Liew D, Imazio M, Cornel JH, Thompson PL, Nidorf M. Consensus Statement Regarding the Efficacy and Safety of Long-Term Low-Dose Colchicine in Gout and Cardiovascular Disease. Am J Med. 2022 Jan;135(1):32-38. doi: 10.1016/j.amjmed.2021.07.025. Epub 2021 Aug 18. PMID: 34416165; PMCID: PMC8688259. (January 2022)
Comparison of rivaroxaban concentrations between Asians and Caucasians and their correlation with PT/INR (November 2018)
Non-response to colchicine in familial Mediterranean fever should be identified accurately By: Melikoglu, Meltem A.; Senel, Kazim INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES Volume: 20 Issue: 12 Pages: 2118-2121 Published: DEC 2017 (December 2017)
Anakinra for Colchicine‐Resistant Familial Mediterranean Fever: A Randomized, Double‐Blind, Placebo‐Controlled Trial Ben-Zvi, Ilan; Kukuy, Olga; Giat, Eitan; et al. ARTHRITIS & RHEUMATOLOGY Volume: 69 Issue: 4 Pages: 854-862 Published: APR 2017 (April 2017)

International Articles

Clinical exome sequencing reveals an important role for clinical diagnosis of intellectual disability with definition of seven novel variants. YALÇINTEPE SİNEM, Gorker Isik, Bozatli Leyla, Sezginer Guler Hazal, Zhuri Drenushe, Demir Selma, Atli Emine Ikbal, Atli Engin, Eker Damla, Gurkan Hakan. Neurology Asia, 28(4), 1041-1052., Doi: 10.54029/2023rfz. (December 2023)

The Correlation of Cystic Fibrosis Screening Test Results with Ultrasonographically Detected Fetal Anomalies in Prenatal Diagnosis. Atlı Emine İkbal, Atlı Engin, Demir Selma, YALÇINTEPE SİNEM, Gürkan Hakan. Medical Journal of Bakırköy, 19(2), 191-199., Doi: 10.4274/BMJ.galenos.2023.2023.1-10. (June 2023)

The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method. YALÇINTEPE SİNEM, Karal Yasemin, Demir Selma, Atlı Emine İkbal, Atlı Engin, Eker Damla, Mail Cisem, Zhuri Drenushe, Sezginer Guler Hazal, Gürkan Hakan. Global Medical Genetics, 10(2), 117-122., Doi: 10.1055/s-0043-1770055. (June 2023)

Identification of a novel KIF11 variant p.(Leu804Thrfs Ter13) in a case with isolated microcephaly (October 2022)

Atli EI, Atli E, Yalcintepe S, Demir S, Kalkan R, Akurut C, Ozen Y, Gurkan H. Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period. Glob Med Genet. 2022;9:29–33. (September 2022)

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EFFECTS OF CHROMOSOMAL TRANSLOCATIONS ON SPERM COUNT IN AZOOSPERMIC AND OLIGOSPERMIC CASES (September 2022)

Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype (August 2022)

Investigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Method (July 2022)

Importance of Diagnosis in Breast Cancer with Non-BRCA Pathogenic Germline Variants of Cancer Susceptibility Genes using High-Throughput Sequencing Analysis (June 2022)

Inherited Variants is a Genetic Determinant of Mercaptopurine/Methotrexate Intolerance in Children With Acute Lymphoblastic Leukemia (June 2022)

Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two Centers (June 2022)

Genotype-phenotype correlations of pathogenic copy number variations on X chromosome detected by comparative genomic hybridization (May 2022)

Ikbal Atli E, Gurkan H, Atli E, Yalcintepe S, Demir S, Eker D, Kalkan R, Muzaffer Demir A. Targeted massively parallel sequencing in the management of cytogenetically normal lymphoid malignancies. J BUON. 2021 Jul-Aug;26(4):1540-1548. PMID: 34565017. (July 2021)

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Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma (March 2021)

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Sinem Yalcintepe, Selma Demir, Emine Ikbal Atli, Murat Deveci, Engin Atli, Hakan Gurkan. Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome. Global Medical Genetics. DOI: 10.1055/s-0040-1714092. (August 2020)

Gürkan, H., Atli, E. I., Atli, E., Bozatli, L., Altay, M. A., Yalcintepe, S., ... & Görker, I. (2020). Chromosomal microarray analysis in Turkish patients with unexplained developmental delay and intellectual developmental disorders. Archives of Neuropsychiatry, 57(3), 177. (March 2020)

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Fetal Vegf Genotype is More Important for Abortion Risk than Mother Genotype (March 2014)
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- Stančiaková L, Žolková J, Vadelová Ľ, Hornáková A, Kolková Z, Vážan M, Dobrotová M, Hollý P, Jedináková Z, Grendár M, Bolek T, Samoš M, Biringer K, Danko J, Burjanivová T, Lasabová Z, Kubisz P, Staško J. DNA Polymorphisms in Pregnant Women with Sticky Platelet Syndrome. J Clin Med. 2022 Nov 3;11(21):6532. doi: 10.3390/jcm11216532. PMID: 36362759; PMCID: PMC9657965. (November 2022)

Possible Roles of the Xenobiotic Transporter P-glycoproteins Encoded by the MDR1 3435 C＞T Gene Polymorphism in Differentiated Thyroid Cancers (May 2013)

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The prevalence of VKORC1 1639 G> A and CYP2C9* 2* 3 genotypes in patients that requiring anticoagulant therapy in Turkish population

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International Conference Proceedings

Ozupek Nilay, Dusenkalkan Fulya, Oz Veysel, Zhuri Drenushe, Sezginer Guler Hazal, Atli Engin, YALÇINTEPE SİNEM, Gurkan Hakan. Results of DMD Gene Deletion/Duplication Analysis in Duchenne Muscular Dystrophy Patients: Single-Center Experience. UNION OF THRACE UNIVERSITIES VI. INTERNATIONAL HEALTH SCIENCES CONGRESS, 30 Kasım-1 Aralık 2023. (November 2023)

Sezginer Guler Hazal, Zhuri Drenushe, Atli Engin, Guler Sibel, YALÇINTEPE SİNEM, Gurkan Hakan. Navigating Huntington's Challenges: The Crucial Role of Genetic Evaluation in Diagnosis within the Thrace Region. UNION OF THRACE UNIVERSITIES VI. INTERNATIONAL HEALTH SCIENCES CONGRESS, 30 Kasım-1 Aralık 2023. (November 2023)

Moustafa Netzat, Gürkan Hakan, Atlı Engin, YALÇINTEPE SİNEM, Zhuri Drenushe, Sezginer Guler Hazal (2023). Investigation of the Relationship of NLRP2, NLRP7 and KHDC3L Gene Variations in Patients with Recurrent Pragnancy Loss History. 14th Balkan Congress of Human Genetics and 9th Rare Disease SEE Meeting 2023. (October 2023)

Zhuri Drenushe, Dusenkalkan Fulya, Ozupek Nilay, İnan Cihan, Atlı Engin, YALÇINTEPE SİNEM, Sayın Niyazi Cenk, Gürkan Hakan (2023). Clinical Significance of Microdeletions and Epigenetic Modifications on Chromosome 11p15.5 in Prenatal and Postnatal Diagnosis. 14th Balkan Congress of Human Genetics and 9th Rare Disease SEE Meeting 2023. (October 2023)

Atlı Emine İkbal, Atlı Engin, Gürkan Hakan, YALÇINTEPE SİNEM, Demir Selma. Molecular Cytogenetics of Non-Syndromic Polydactyly. 14th Balkan Congress of Human Genetics and 9th Rare Disease SEE Meeting 2023. (October 2023)

Atlı Engin, Zhuri Drenushe, Sezginer Guler Hazal, YALÇINTEPE SİNEM, Gürkan Hakan. MtDNA NGS Results in Mitochondrial Disorders of Trakya University. 14th Balkan Congress of Human Genetics and 9th Rare Disease SEE Meeting 2023. (October 2023)

Sezginer Guler Hazal, Zhuri Drenushe, Kaya Şevval, Atlı Engin, Demir Selma, YALÇINTEPE SİNEM, Gürkan Hakan (2023). Frequencies of Likely Pathogenic and Pathogenic Variants in the Thrace Region: A Single Center Experience. 14th Balkan Congress of Human Genetics and 9th Rare Disease SEE Meeting 2023. (October 2023)

Scientific Reports (February 2023)

Koprulu Ozge, Yalcintepe Sinem. MCM9 mutation in a case of premature ovarian insufficiency with vitiligo. 60th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), 95(2), 400-400. (Özet Bildiri/Poster) (June 2022)

Novel MID1 mutation in a patient with X-linked Opitz G/BBB syndrome. (April 2019)
INVESTIGATING GENETIC ETIOLOGY OF CARDIOMYOPATHY WITH NEXT GENERATION SEQUENCING METHOD (November 2018)

International Conferences and Symposiums

HETEROGENEOUS ETIOLOGY OF HEARING LOSS-MOLECULAR ANALYSIS (April 2019)

International Books and Book Chapters

Türkiye Klinikleri Tıbbi Genetik - Özel Konular - Nükleotid Tekrar Artışı Hastalıkları, Bölüm adı:(Friedreich Ataksisine Genetik Yaklaşım) (2023)., YALÇINTEPE SİNEM, Türkiye Klinikleri, Editör:Zamani, Ayşe Gül, Basım sayısı:1, Sayfa Sayısı 90, ISBN:978-625-401-965-4. (January 2023)

National Articles

Y chromosome polymorphism in Turkish patients with reproductive problems: a genetic centre experience. The European Research Journal, 9(4), 725-729., Doi: 10.18621/eurj.1130666. (March 2023)

Prenatal Sitogenetik Anormallikler ve Ultrasonografik olarak Saptanan Fetal Anomalilerin Korelasyonu (February 2022)

Kardiyovasküler Hastalıkların Tanısında Yeni Nesil Dizi Analizi Yöntemi ile Genetik Varyasyonların Tespitinin Önemi. Sinem Yalçıntepe, Hakan Gürkan, Sezgi Sarıkaya Solak, Selma Demir, Emine İkbal Atlı, Engin Atlı, Servet Altay. Kocaeli Med J. 2020; 9(3): 120-127. (December 2020)

Beta globin mutations in beta thalassemia minor patients in Genetics Diagnosis Center of Trakya University Faculty of Medicine (December 2019)

The diagnostic accuracy of non-invasive fetal RhD genotyping by using cell-free fetal DNA in maternal plasma (March 2019)

Shprintzen-Goldberg Syndrome: Case Report (August 2018)

National Conference Proceedings

Use Of Targeted Next-Generation Sequencing Approach To Investigate Genetic Etiology In Polycystic Kidney Patients. 15. Ulusal Tıbbi Genetik Kongresi (Özet Bildiri/Poster) (November 2022)

Investigation Of Endometrial Cancer Variants By Targeted High-Throughput Sequencing: Two Novel Variants In Atm And Msh6 Genes. 15. Ulusal Tıbbi Genetik Kongresi (Özet Bildiri/Sözlü Sunum) (November 2022)

Case With Extraordinary Fragile X Analysis Profile With Increased Copy Number In The Xq11.1-Q28 Chromosome Region. 15. Ulusal Tıbbi Genetik Kongresi (Özet Bildiri/Poster) (November 2022)

Prenatal Tanıda Kistik Fibrozis Ngs Paneli, Kistik Fibrozis Olgularının Tespitini En Üst Düzeye Çıkarmak İçin Tasarlanmıştır. 15. Ulusal Tıbbi Genetik Kongresi (Özet Bildiri/Poster) (November 2022)

Investigation Of Genetic Etiology Medullary Thyroid Cancer Patients With Next Generation Sequencing Method. (15. Ulusal Tıbbi Genetik Kongresi - Sözlü sunum - Özet bildiri) (November 2022)

Drenushë Zhuri, Hakan Gürkan, Damla Eker, Sinem Yalçıntepe, Engin Atlı, Selma Demir, Emine İkbal Atlı. Spinal müsküler atrofi fenotipinde modifiye edici genlerin etkilerinin araştırılması. 14 Ulusal Tıbbi Genetik Kongresi, e-kongre, 20-22 Kasım 2020. (Sözlü sunum) (December 2020)

Damla Eker, Hakan Gürkan, Sinem Yalçıntepe, Selma Demir, Engin Atlı, Emine İkbal Atlı, Yasemin Karal, Serap Tevhide Karasalihoğlu. Periferal hipotoni tanılı çocuk hastalarda genetik etiyolojinin yeni nesil dizi analizi yöntemi ile araştırılarak, fenotip-genotip ilişkisinin belirlenmesi. 14 Ulusal Tıbbi Genetik Kongresi, e-kongre, 20-22 Kasım 2020. (Sözlü sunum) (December 2020)

Çisem Mail, Emine İkbal Atlı, Engin Atlı, Sinem Yalçıntepe, Yasemin Özen, Selma Demir, Niyazi Cenk Sayın, Gülizar Füsun Varol, Hakan Gürkan. Trakya Üniversitesi Hastanesi Genetik Hastalıklar Tanı Merkezinin Prenatal Olgularda arrayCGH Analizi Tecrübesi ve Sonuçları. 14 Ulusal Tıbbi Genetik Kongresi, e-kongre, 20-22 Kasım 2020. (Sözlü sunum) (December 2020)

Emine İkbal Atli, Sinem Yalçıntepe. Anorektal Malformasyonların Etiyolojisinde Kromozomal Anomaliler. 14 Ulusal Tıbbi Genetik Kongresi, e-kongre, 20-22 Kasım 2020. (Sözlü sunum) (December 2020)

Sinem Yalçıntepe, Hakan Gürkan. Kraniosinostoz Olgularında Çoklu Gen Analizinin Tanıdaki Yeri. 14 Ulusal Tıbbi Genetik Kongresi, e-kongre, 20-22 Kasım 2020. (Sözlü sunum) (Vol 31 No 4A (2020): Gazi Medical Journal Supplement) (December 2020)

Ectodermal dysplasia - three genes three novel variations (January 2020)

Investigation of NF1 Gene Variations in Patients with Preliminary Diagnosis of Neurofibromatosis by New Generation Sequence Analysis (November 2018)

Whole Exome Sequencing Identifies Causative Mutation in a Case with Pontocerebeller Hypoplasia (March 2018)
Paternally inherited 18q deletion syndrome - Affected child and healthy father

National Conferences and Symposiums

Oturum başkanlığı - 15. Ulusal Tıbbi Genetik Kongresi (November 2022)

Master`s Theses Advised

Esansiyel Hipertansiyon Etiyolojisinde Eksozomal miRNA Biyobelirteç Potansiyeli Ve Ekspresyon Analizi (December 2023)

Mir-155, Let-7c VE Mir-433 Mikro-RNA EKSPRESYONLARININ DOWN SENDROMLU BİREYLERDE KONJENİTAL KALP HASTALIKLARINA ETKİSİNİN ARAŞTIRILMASI (December 2023)

Referee Positions

Balkan Medical Journal (February 2024)
OncoTargets and Therapy (May 2023)
Journal of Clinical Obstetrics and Gynecology (May 2023)
Psychiatric Genetics (April 2023)
BMC Pediatrics (April 2023)
World Journal of Diabetes (February 2023)
Biomedical and Environmental Sciences (February 2023)
World Journal of Diabetes (February 2023)
Batı Karadeniz Tıp Dergisi (January 2023)
Balkan Medical Journal (January 2023)
Balkan Medical Journal (January 2023)
International Journal of Rheumatic Diseases (November 2022)
Balkan Medical Journal (March 2022)
Balkan Medical Journal (February 2022)
Cumhuriyet Tıp Dergisi (February 2022)
Balkan Medical Journal (August 2020)
Tıpta uzmanlık sınavı (June 2020)
Tıpta Uzmanlık Sınavı (Dr Taner Karakaya) (March 2020)
Balkan Medical Journal (September 2019)
Balkan Medical Journal (August 2019)
BMC Cardiovascular Diseases (July 2019)
Balkan Medical Journal (May 2019)
Balkan Medical Journal (January 2019)
Balkan Medical Journal (August 2018)
Balkan Medical Journal (July 2018)
Turkish Medical Student Journal (June 2018)
TURKISH JOURNAL OF BIOLOGY (May 2018)
Journal of Obstetrics and Gynaecology (April 2018)
Balkan Medical Journal (April 2018)
Balkan Medical Journal (April 2018)
International Molecular Biology and Biotechnology Congress (March 2018)
Balkan Medical Journal (February 2018)
Balkan Medical Journal (February 2018)
Balkan Medical Journal (January 2018)

Projects

Epilepsi tanısı alan hastalarda genetik etiyolojnin araştırılması (December 2022)

Akut Lenfositik Lösemi Tanılı Çocuklarda Terapi Toksisitesine Karşı Hassasiyet Oluşturduğu Düşünülen Genetik Varyantların İncelenmesi (September 2022)

Other

Tıpta Uzmanlık Sınavı - Tıbbi Genetik - Çanakkale Onsekiz Mart Üniversitesi (March 2022)
Yan dal uzmanlık sınavı (June 2020)
Tıp Fakültesi Lisans Dersleri

» Educational Qualifications

Bachelor`s Degree » Graduated in 2009

» Academic Titles

Associate Professor Doctor » In 2022

» Publications

SCI-SSCI or SCI Expanded Articles

International Articles

International Conference Proceedings

International Conferences and Symposiums

International Books and Book Chapters

National Articles

National Conference Proceedings

National Conferences and Symposiums

Master`s Theses Advised

Referee Positions

Projects

Other