SCI-SSCI, SCI Expanded ve AHCI Kapsamındaki Yayınları

• Kiraz Aslıhan, Sezer Özlem, Alemdar Adem, Canbek Sezin, Duman Nilgün, Bişgin Atıl, Cora Tülin, Ruhi Hatice Ilgın, Ergören Mahmut Çerkez, Geçkinli Bilgen Bilge, Özemri Sağ Şebnem, Gözden Hilmi Erdem, Öz Özlem, Mert Altıntaş Zuhal, YALÇINTEPE SİNEM, Keskin Adem, Yabacı Tak Ayşegül, Aktas Paskal Seyma, Yurekli Ugur Fahri, Demirtas Mercan, Unal Evren Emine, Hanta Abdullah, Basdemirci Muserref, Suer Huseyin Kaya, Balta Burhan, Kocak Nadir, Karabulut Halil Gurhan, Cobanogullari Havva, Arslan Ates Esra, Tug Bozdogan Sevcan, Eker Damla, Ekinci Sadiye, Nergiz Suleyman, Tuncali Timur, Yagbasan Serap, Alavanda Ceren, Yurur Kutlay Nuket, Evren Hakan, Erdogan Murat, Altiner Sule, Sanlidag Tamer, Akinci Gonen Gizem, Vicdan Arzu, Eras Nazan, Kocak Eker Hatice, Balasar Ozgur, Tuncel Gulten, Dundar Munis, Gurkan Hakan, Temel Sehime Gulsun (2023). 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. (Şubat 2023)

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  • Aci, R., Keskin, A., Yigit, S., Sezer, O., & Kaya, M. T. (2023). Effect of vitamin D receptor gene BsmI polymorphism on hospitalization of SARS-CoV-2 positive patients. Nucleosides, Nucleotides & Nucleic Acids, 1-12. (Ekim 2023)
  • Uslu, K., Ozcelik, F., Zararsiz, G., Eldem, V., Cephe, A., Sahin, I. O., ... & Dundar, M. (2023). Deciphering the host genetic factors conferring susceptibility to severe COVID-19 using exome sequencing. Genes & Immunity, 1-29. (Ekim 2023)

• 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. (Ocak 2023)

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

• Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium (Haziran 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. (Mayıs 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. (Nisan 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. (Temmuz 2022)

• Clinical Implications of Chromosome 16 Copy Number Variation (Mayıs 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. (Ağustos 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. (Ağustos 2023)
  • Chung, W. K., & Herrera, F. F. (2023). Health Supervision for Children and Adolescents with 16p11. 2 Deletion Syndrome. Molecular Case Studies, mcs-a006316. (Haziran 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. (Mart 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. (Aralık 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 (Mayıs 2022)

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

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

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  • Gabriel, M., Loos, M. A., Armeno, M., Alonso, C. N., & Roberto, H. (2023). Glucose transporter type 1 deficiency syndrome: clinical aspects, diagnosis, and treatment. Arch Argent Pediatr, 121(1), e202202677. (Ocak 2023)
  • Zhou X, Chen Z, Xiao L, Zhong Y, Liu Y, Wu J, Tao H. Intracellular calcium homeostasis and its dysregulation underlying epileptic seizures. Seizure. 2022 Dec;103:126-136. doi: 10.1016/j.seizure.2022.11.007. Epub 2022 Nov 11. PMID: 36403388. (Aralık 2022)
  • Veneruzzo GM, Loos MA, Armeno M, Alonso CN, Caraballo RH. Glucose transporter type 1 deficiency syndrome: clinical aspects, diagnosis, and treatment. Arch Argent Pediatr. 2022 Nov 3:e202202677. English, Spanish. doi: 10.5546/aap.2022-02677.eng. Epub ahead of print. PMID: 36315575. (Kasım 2022)

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

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  • Wang K, Wang Z, Wang Z, Xie X, Zang L, Wang L, Che F. Stellera chamaejasme L. extracts in the treatment of glioblastoma cell lines: Biological verification based on a network pharmacology approach. Front Oncol. 2022 Aug 17;12:962970. doi: 10.3389/fonc.2022.962970. PMID: 36059675; PMCID: PMC9428724. (Ağustos 2022)

• The Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Disease (Kasım 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. (Nisan 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. (Nisan 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. (Temmuz 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. (Haziran 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. (Haziran 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. (Şubat 2022)

• High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population (Ekim 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. (Eylül 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. (Eylül 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. (Ağustos 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. (Temmuz 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. (Haziran 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. (Haziran 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. (Haziran 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. (Mayıs 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. (Nisan 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. (Nisan 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. (Mart 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. (Mart 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. (Şubat 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. (Ocak 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. (Ocak 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 (Aralık 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. (Aralık 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. (Aralık 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. (Kasım 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. (Ekim 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. (Ağustos 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. (Ağustos 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. (Haziran 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. (Haziran 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, (Haziran 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. (Mayıs 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, (Mayıs 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 (Nisan 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. (Şubat 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. (Ocak 2022)

• The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region (Ağustos 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. (Şubat 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. (Ocak 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. (Aralık 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. (Eylül 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. (Ağustos 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. (Nisan 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 (Mart 2022)
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• Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report (Mart 2021)

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

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

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

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  • Polprasert C, Niparuck P, Rattanathammethee T, Kobbuaklee S, Lanamtieng T, Rojnuckarin P. Comparison of Molecular International Prognostic Scoring System (M-IPSS) and Revised International Prognostic Scoring System (R-IPSS) in Thai patients with myelodysplastic neoplasms. Hematology. 2022 Dec;27(1):1301-1304. doi: 10.1080/16078454.2022.2156682. PMID: 36519260. (Aralık 2022)
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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 (Aralık 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 (Aralık 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. (Kasım 2020)

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• 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. (Temmuz 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. (Temmuz 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. (Temmuz 2020)

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

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• 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. (Mayıs 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 (Nisan 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. (Ocak 2020)

• A novel nonsense mutation of the CYLD gene in a Turkish family with multiple familial trichoepithelioma (Aralık 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. (Mayıs 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 (Aralık 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 (Eylül 2015)

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  • Association of Angiotensin-Converting Enzyme Insertion/Deletion Polymorphism with Recurrent Pregnancy Loss: a Meta-Analysis of 26 Case-Control Studies (Ekim 2018)
  • Association between thrombophilia gene polymorphisms and recurrent pregnancy loss risk in the Iranian population (Nisan 2018)
  • Uticaj polimorfizma C677T gena za metilen-tetrahidrofolat reduktazu na nastanak spontanih pobačaja (Şubat 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. (Temmuz 2012)

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

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  • 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 (Eylül 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. (Haziran 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 (Haziran 2023)
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  • The powerful association of angiotensin-converting enzyme insertion/deletion polymorphism and idiopathic recurrent pregnancy loss (Ekim 2018)
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  • Investigating Association of rs5918 Human Platelets Antigen 1 and rs1800790 Fibrinogen β Chain as Critical Players with Recurrent Pregnancy Loss (Ekim 2018)
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  • Genetic and epigenetic variations associated with idiopathic recurrent pregnancy loss (Mart 2018)
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  • 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 (Haziran 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 (Ocak 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. (Kasım 2011)

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• Combined point mutations in codon 12 and 13 of KRAS oncogene in prostate carcinomas (Mayıs 2011)

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  • Mutant Kras-induced upregulation of CD24 enhances prostate cancer stemness and bone metastasis (Kasım 2018)

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

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  • 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. (Mayıs 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. (Haziran 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. (Ocak 2022)
  • Comparison of rivaroxaban concentrations between Asians and Caucasians and their correlation with PT/INR (Kasım 2018)
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  • 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 (Nisan 2017)

Uluslararası Hakemli Dergilerde Yayınlanan Makaleler

• 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. (Aralık 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. (Haziran 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. (Haziran 2023)

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

  1 ATIF

  ATIFLAR

  • Mastromoro G, Khaleghi Hashemian N, Guadagnolo D, Giuffrida MG, Torres B, Bernardini L, Ventriglia F, Piacentini G, Pizzuti A. Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis. Diagnostics (Basel). 2022 May 27;12(6):1328. doi: 10.3390/diagnostics12061328. PMID: 35741137; PMCID: PMC9221891. (Mayıs 2022)

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

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

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

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

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

• Genotype-phenotype correlations of pathogenic copy number variations on X chromosome detected by comparative genomic hybridization (Mayıs 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. (Temmuz 2021)

  1 ATIF

  ATIFLAR

  • Bhai P, Chin-Yee B, Pope V, Cheong I, Matyashin M, Levy MA, Foroutan A, Stuart A, Hsia CC, Lin H, Sadikovic B, Chin-Yee I. Mutational Landscape of Patients Referred for Elevated Hemoglobin Level. Curr Oncol. 2022 Sep 30;29(10):7209-7217. doi: 10.3390/curroncol29100568. PMID: 36290845; PMCID: PMC9600330. (Eylül 2022)

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

  1 ATIF

  ATIFLAR

  • Anno M, Izawa S, Fujioka Y, Matsuzawa K, Saito K, Hikita K, Makishima K, Nosaka K, Takenaka A, Usui T, Yamamoto K. Retroperitoneal paraganglioma with loss of heterozygosity of the von Hippel-Lindau gene: a case report and review of the literature. Endocr J. 2022 Sep 28;69(9):1137-1147. doi: 10.1507/endocrj.EJ21-0611. Epub 2022 Apr 23. PMID: 35466127. (Eylül 2022)

• 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. (Ağustos 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. (Mart 2020)

  2 ATIF

  ATIFLAR

  • Gerik-Celebi, H. B., Aydin, H., Bolat, H., & Unsel-Bolat, G. (2023). Clinical and Genetic Characteristics of Patients with Unexplained Intellectual Disability/Developmental Delay without Epilepsy. Molecular Syndromology, 14(3), 208-218. (Mart 2023)
  • Kim, J., Lee, J., & Jang, D. H. (2023). Combining chromosomal microarray and clinical exome sequencing for genetic diagnosis of intellectual disability. Scientific Reports, 13(1), 22807. (Ocak 2023)

• Fetal Vegf Genotype is More Important for Abortion Risk than Mother Genotype (Mart 2014)

  1 ATIF

  ATIFLAR

  • 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. (Kasım 2022)

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

  2 ATIF

  ATIFLAR

  • Hegazi HM, Elghonemy MS, El-Baiomy MA, Soliman EA, Abdel-Hady EK. Prognostic role of TNF alpha, LT alpha, MDR1 and codon 72 Tp53 gene polymorphisms on multiple myeloma Egyptian patients. Leuk Res. 2022 Jun;117:106854. doi: 10.1016/j.leukres.2022.106854. Epub 2022 Apr 29. PMID: 35594781. (Nisan 2022)
  • Multidrug resistance 1 (MDR1/ABCB1) gene polymorphism (rs1045642 C > T) and susceptibility to multiple myeloma: a systematic review and meta-analysis (Mart 2018)

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

  3 ATIF

  ATIFLAR

  • Genetic Polymorphism of VKORC1-1639 in Children With Intracranial Hemorrhage Due to Vitamin K Deficiency (Ağustos 2018)
  • Impact of Genetic Polymorphisms on Phenytoin Pharmacokinetics and Clinical Outcomes in the Middle East and North Africa Region Dagenais, Renee; Wilby, Kyle John; Elewa, Hazem; et al. DRUGS IN R&D Volume: 17 Issue: 3 Pages: 341-361 Published: SEP 2017 (Eylül 2017)
  • THE FREQUENCY OF VITAMIN K EPOXIDE REDUCTASE COMPLEX–1639G>A GENETIC VARIANT AMONG HEALTHY UNRELATED JORDANIAN VOLUNTEERS

Uluslararası Bilimsel Toplantılarda Sunulan ve Bildiri Kitabında Basılan Bildiriler (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. (Kasım 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. (Kasım 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. (Ekim 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. (Ekim 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. (Ekim 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. (Ekim 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 (Ekim 2023)

• Scientific Reports (Şubat 2023)

• Koprulu Ozge, YALÇINTEPE SİNEM (2022). 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) (Haziran 2022)

• Novel MID1 mutation in a patient with X-linked Opitz G/BBB syndrome. (Nisan 2019)

• INVESTIGATING GENETIC ETIOLOGY OF CARDIOMYOPATHY WITH NEXT GENERATION SEQUENCING METHOD (Kasım 2018)

Uluslararası Konferans ve Sempozyumlar

• HETEROGENEOUS ETIOLOGY OF HEARING LOSS-MOLECULAR ANALYSIS (Nisan 2019)

Yazılan Uluslararası Kitaplar veya Kitaplarda Bölümler

• 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. (Ocak 2023)

Ulusal Hakemli Dergilerde Yayınlanan Makaleler

• 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. (Mart 2023)

• Prenatal Sitogenetik Anormallikler ve Ultrasonografik olarak Saptanan Fetal Anomalilerin Korelasyonu (Şubat 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. (Aralık 2020)

• Trakya Üniversitesi Tıp Fakültesi Genetik Hastalıklar Tanı Merkezinde beta talasemi minor kliniği ile incelenen bireylerde görülen beta globin mutasyonları ve sıklığı (Aralık 2019)

• Maternal plazmadaki hücre dışı serbest fetal DNA kullanılarak girişimsel olmayan fetal RhD genotiplemesinin tanısal doğruluğu (Mart 2019)

• Multiple Myelom (MM) Tanısı Alan Olgularda Kromozomal Değişimler (Ekim 2018)

• Shprintzen-Goldberg Sendromu: Olgu Sunumu (Ağustos 2018)

• Günümüzde Kanser Tanısında Kullanılan Geçerli ve Güvenilir Moleküler Tetkikler

Ulusal Bilimsel Toplantılarda Sunulan ve Bildiri Kitabında Basılan Bildiriler

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

• Investigation Of Genetic Etiology Medullary Thyroid Cancer Patients With Next Generation Sequencing Method. (15. Ulusal Tıbbi Genetik Kongresi - Sözlü sunum - Özet bildiri) (Kasım 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) (Aralık 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) (Aralık 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) (Aralık 2020)

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

• Ektodermal displazi - üç gen üç novel varyasyon (Ocak 2020)

• X KROMOZOMUNUN SAYISAL VE YAPISAL DÜZENSİZLİĞİNİ MOZAİK OLARAK TAŞIYAN OLGU (Kasım 2018)

• WOLF HİRSHHORN SENDROMU TANILI ÜÇ OLGU (Kasım 2018)

• MENTAL RETARDASYON: 18P DUPLİKASYONU OLAN OLGU SUNUMU (Kasım 2018)

• MENTAL RETARDASYON: 14. KROMOZOMDA ADDİTİVE YAPI SAPTANAN OLGU SUNUMU (Kasım 2018)

• FARKLI KLİNİK ÖN TANILI HASTALARDA FMR 1 GENİ (CGG) TEKRAR SAYILARININ ARAŞTIRILMASI (Kasım 2018)

• ARRAY-CGH YÖNTEMİ İLE 2Q37.1-Q37.3 DELESYONU VE 16P13.11-P12.3 DUPLİKASYONU SAPTANAN DİSMORFİK ÖZELLİKLERE SAHİP BİR OLGU (Kasım 2018)

• TNFRSF11A GENİ VARYASYONLARININ BRCA1 VE/VEYA BRCA2 MUTASYONU SAPTANAN HASTALARDA, MEME KANSERİ GELİŞİM RİSKİ ÜZERİNE ETKİLERİNİN ARAŞTIRILMASI (Kasım 2018)

• Nörofibromatozis Ön Tanısı Olan Hastalarda NF1 Geni Varyasyonlarının Yeni Nesil Dizi Analizi Yöntemi ile Araştırılması (Kasım 2018)

• Whole Exome Sequencing Identifies Causative Mutation in a Case with Pontocerebeller Hypoplasia (Mart 2018)

• Paternally inherited 18q deletion syndrome - Affected child and healthy father

Ulusal Konferans ve Sempozyumlar

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

Yönetilen Yüksek Lisans Tezleri

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

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

Yapılan Hakemlikler

• Balkan Medical Journal (Şubat 2024)

• OncoTargets and Therapy (Mayıs 2023)

• Journal of Clinical Obstetrics and Gynecology (Mayıs 2023)

• Psychiatric Genetics (Nisan 2023)

• BMC Pediatrics (Nisan 2023)

• World Journal of Diabetes (Şubat 2023)

• Biomedical and Environmental Sciences (Şubat 2023)

• World Journal of Diabetes (Şubat 2023)

• Batı Karadeniz Tıp Dergisi (Ocak 2023)

• Balkan Medical Journal (Ocak 2023)

• Balkan Medical Journal (Ocak 2023)

• International Journal of Rheumatic Diseases (Kasım 2022)

• Balkan Medical Journal (Mart 2022)

• Balkan Medical Journal (Şubat 2022)

• Cumhuriyet Tıp Dergisi (Şubat 2022)

• Balkan Medical Journal (Ağustos 2020)

• Tıpta uzmanlık sınavı (Dr Burcu ALBUZ) (Haziran 2020)

• Tıpta Uzmanlık Sınavı (Dr Taner Karakaya) (Mart 2020)

• Balkan Medical Journal (Eylül 2019)

• Balkan Medical Journal (Ağustos 2019)

• BMC Cardiovascular Diseases (Temmuz 2019)

• Balkan Medical Journal (Mayıs 2019)

• Balkan Medical Journal (Ocak 2019)

• Balkan Medical Journal (Ağustos 2018)

• Balkan Medical Journal (Temmuz 2018)

• Turkish Medical Student Journal (Haziran 2018)

• TURKISH JOURNAL OF BIOLOGY (Mayıs 2018)

• Journal of Obstetrics and Gynaecology (Nisan 2018)

• Balkan Medical Journal (Nisan 2018)

• Balkan Medical Journal (Nisan 2018)

• International Molecular Biology and Biotechnology Congress (Mart 2018)

• Balkan Medical Journal (Şubat 2018)

• Balkan Medical Journal (Şubat 2018)

• Balkan Medical Journal (Ocak 2018)

Projeler

• Epilepsi tanısı alan hastalarda genetik etiyolojnin araştırılması (Aralık 2022)

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

Diğer

• Tıpta Uzmanlık Sınavı - Tıbbi Genetik - Çanakkale Onsekiz Mart Üniversitesi (Mart 2022)

• Yan dal uzmanlık sınavı (Haziran 2020)

• Tıp Fakültesi Lisans Dersleri

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Ulusal » Diğer » Diğer (Trakya Üniversitesi)

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