• Devices registered to the Department of Medical Genetics, Sigma 2-16P Centrifuge – Centrifuge Digital Heating Shaking Drybath – Heated shaker, Vortex, centrifuge, automatic pipette sets and refrigerators required for laboratory applications, Computer infrastructure required for data analysis
• Devices registered to the Department of Pediatric Genetics: (Machine-equipment in common use) ESCO ESC-CCL 170B Incubator – Cell culture CO2 incubator, ESCO Clas II BSC Airstream – Cell Culture Laminar Flow Cabinet, Sigma 2-16KL Refrigerated Centrifuge – Centrifuge, ThermoFisher Scientific Qubit Fluorometer – Fluorometric measuring instrument, Applied Biosystems 9902 Veriti – PCR instrument, Applied Biosystems 3500 Genetic Analyzer – DNA sequence Analysis, Affymetrix GeneChip Hybridization Oven – Microarray Analysis, Affymetrix GeneChip Fludics Station – Microarray Analysis, Affymetrix GeneChip Scanner 7 Nicon Eclipse E800 – Microscope with Fluorescent and Camera attachment, BioRad Electrophoresis tanks and power supplies, UVP Biospectrum 500 Imaging System – Imaging system, vortex, centrifuge, automatic pipette sets and refrigerators required for laboratory applications. Company-owned Devices: (Devices open to research projects owned by various companies) Illumina NextSeq 550 System – Next generation sequencing device, ThermoFisher Scientific Ion Proton Sequencer – Next generation sequencing device, Thermo Fisher Scientific Ion OneTouch 2 Instrument, Thermo Fisher Scientific Ion OneTouch ES, Roche LightCycler 480 II – Real-time PCR instrument, Applied Biosystems 9902 Veriti – PCR instrument
• Prof. Dr. Mehmet ALİKAŞİFOĞLU (Anabilim Dalı Başkanı)
• Prof. Dr. Nurten Ayşe AKARSU
• Doç. Dr. Zihni Ekim TAŞKIRAN
• Dr. Öğr. Ü. Dr. Arda ÇETİNKAYA
• Öğr. Gör. Dr. Beren KARAOSMANOĞLU
• Öğr. Gör. Dr. Ceren Damla DURMAZ ÖZDİNÇ
• Öğr. Gör. Gözde İMREN
• Ar. Gör. Dr. Erdem KINDISLI
• Ar. Gör. Dr. Ayşe GÜREL
• Ar. Gör. Dr. Nesligül IŞIKLI
• Project No: 217S123; “ERA.NET project” supported by TUBITAK; Inception: 11/11/2018 (3 years); Project Budget: 820.000 TL; Atherosclerotic Plaque Erosion Leading to Thrombus Formation: The Role of Microparticles in Endothelial Transdifferentiation, Apoptosis and Aging; Mehmet ALİKAŞİFOĞLU (Assistant Researcher)
• Project No: 319S062; “Horizon 2020, European Joint Program on Rare Disease Joint Transnational Consortium 2019” project supported by TÜBİTAK; Start: 01.07.2020 (3 years); Project Budget: 856,800 TL; Investigation of Genetic Etiology and Determination of Translation in Congenital Bone Marrow Failure Syndromes (RiboEurope); Arda ÇETİNKAYA (EXECUTIVE), Nurten Ayşe AKARSU (Assistant Researcher)
• Project No: 120S909; TÜBİTAK 1002 project; Start: 15.10.2020 (1 year); Project Budget: 44,250 TL; Selection and Characterization of Immune-Resistant Acute Myeloid Leukemia (AML) Cells; Zihni Ekim TAŞKIRAN (Assistant Researcher), Beren KARAOSMANOĞLU (Assistant Researcher)
• Project No: 2020-3; Turkish Society of Hematology Multidisciplinary Research Project; Start: 01.07.2020 (1 year); Project Budget: 39,965.40 TL; New Gene Discovery Related to Exocytosis in Thrombocytopenia Predominant Shwachman-Diamond Syndrome; Arda ÇETİNKAYA (Assistant Researcher), Nurten Ayşe AKARSU (Assistant Researcher); Ayşe GÜREL (Assistant Researcher)
• Project No: 218S553; TÜBİTAK 1001 project; Start: 15.04.2019 (3 years); Project Budget: 674,000 TL; Determination of Structural and Functional Properties of Proteins Encoded by Genes Cloned in Relation to Mechano-Electrical Cycle in a Primary Receptor Neuron; Zihni Ekim TAŞKIRAN (Assistant Researcher), Hacettepe University Scientific Research Coordination Unit
• Project No: TDK-2019-17521; Starting: 28.01.2019 (2.5 years); Project Budget: 30.000 TL; Association of common variants of ADAM19 FAM13a IREB2 genes with COPD susceptibility and severity; Mehmet ALIKAŞİFOĞLU (EXECUTIVE)
• Project No: TSA-2020-18770; Start: 25.08.2020 (2 years); Project Budget: 182,991.52 TL; Molecular-functional analysis and evaluation of neutrophil subpopulations as biomarkers in colorectal cancer; Zihni Ekim TAŞKIRAN (Assistant Researcher)
• Project No: THD-2019-18500; Starting: 03.12.2019 (1.5 years); Project Budget: 30.000 TL; Biological Origins of Lifestyle Associated with Susceptibility to Chronic Diseases in Healthy Youth; Mehmet ALİKAŞİFOĞLU (Assistant Researcher)
• Project No: TSA-2019-18207; Start: 05.11.2019 (2.5 years); Project Budget: 200.000 TL; Role of Genetic Factors in the Development of Atherosclerosis; Mehmet ALİKAŞİFOĞLU (Assistant Researcher)
• Project No: FHD-2019-18144; Start: 11.09.2019 (1 year); Project Budget: 29,916.51 TL; Microfluidic biofabrication of homogeneous porous gelatin nanohydroxyapatite scaffolds and its effect on osteogenic differentiation of dental pulp stem cells; Beren KARAOSMANOĞLU (Assistant Researcher)
• Project No: TSA-2018-17239; Starting: 13.08.2018 (2.5 years); Project Budget: 187.042.48 TL; Investigation of adhesion and migration mechanisms in helper T cells advanced to different activation steps; Zihni Ekim TAŞKIRAN (Assistant Researcher)
• Project No: TSA-2018-16927; Start: 31.05.2018 (3 years); Project Budget: 300.000 TL; Genetic Differences in Twin Autistic Cases; Mehmet ALİKAŞİFOĞLU (Assistant Researcher) Project No: TSA-2017-14384; Starting: 28.09.2017 (2.5 years); Project Budget: 104,376,68 TL; New Gene Investigation in Hereditary Melanoma Families Without Mutations in CDKN2A and MC1R Genes; Zihni Ekim TAŞKIRAN (Assistant Researcher)
• Project No: TSA-2017-15478; Starting: 23.08.2017 (3.5 years); Project Budget: 197,365.48 TL; Analysis of Molecular Pathological Markers in Pediatric Rhabdomyosarcoma Subtypes; Zihni Ekim TAŞKIRAN (Assistant Researcher), Beren KARAOSMANOĞLU (Assistant Researcher)
• Project No: TSA-2017-15482; Starting: 08.08.2017 (3.5 years); Project Budget: 224,376.28 TL; Molecular Genetic Analysis of Neonatal Cholestatic Diseases; Zihni Ekim TAŞKIRAN (Assistant Researcher), Beren KARAOSMANOĞLU (Assistant Researcher)
• Project No: 216S573; TÜBİTAK 1003 project; 15.10.2017 – 19.06.2020; Project Budget: 494,000 TL; Detection of Novel Markers Based on Tumor-Associated Platelets in Breast Cancer Cases by Next Generation RNA Sequencing and Investigation of Their Diagnostic Use (KARNAT); Mehmet ALİKAŞİFOĞLU (EXECUTIVE), Zihni Ekim TAŞKIRAN (Assistant Researcher)
• Project No: 2018-4; Turkish Society of Hematology Multidisciplinary Research Project; 23.05.2018 – 01.02.2020; Project Budget: 30.000 TL; Determination of the Genetic Etiology of Schwachman-Diamond Syndrome; Nurten Ayşe AKARSU (Assistant Researcher)
• Project No: 2016/73; İnönü University Scientific Research Coordination Unit; 03.03.2016 – 15.02.2019; Project Budget: 30.000 TL; Genetic Analysis of a Family with Melkersson Rosenthal Syndrome; Nurten Ayşe AKARSU (Assistant Researcher), Zihni Ekim TAŞKIRAN (Assistant Researcher)
• Project No: 315S192; TÜBİTAK supported “E-Rare 2015” project; 15.02.2016 – 01.02.2019; Project Budget: 609,927 TL; European Diamond Blackfan Anemia Consortium (EuroDBA); Nurten Ayşe AKARSU (Assistant Researcher), Zihni Ekim TAŞKIRAN (Assistant Researcher), Beren KARAOSMANOĞLU (Scholarship, PhD thesis was prepared from this project)
• Project No: 315S096; TÜBİTAK supported “E-Rare 2015” project; 15.02.2016 – 15.08.2019; Project Budget: 611,000 TL; Clinical and Experimental Study for Personalized Molecular Medicine in Autoinflammatory Diseases (Specified and Unspecified): The Role of Modifying Factors (INSAID); Mehmet ALİKAŞİFOĞLU (Assistant Researcher), Zihni Ekim TAŞKIRAN (Assistant Researcher)
• Hacettepe University Scientific Research Coordination Unit
• Project No: TTU-2018-16935; 23.03.2018 – 08.04.2019; Project Budget: 30.000 TL; Investigation of Genetic Causes in Etiology of Oculoauriculovertebral Spectrum; Mehmet ALIKAŞİFOĞLU (EXECUTIVE)
• Project No: THD-2015-7609; 04.09.2015 - 24.06.2016; Project Budget: 16,759.92 TL; Comparison of Extracellular Free Circulating Fetal DNA Isolation Methods in Maternal Blood; Mehmet ALİKAŞİFOĞLU (EXECUTIVE), Nurten Ayşe AKARSU (Assistant Researcher)
• Project No: TAY-2015-7335; 28.07.2015 – 30.09.2019; Project Budget: 828,469,08 TL; Hacettepe Exome Project; Zihni Ekim TAŞKIRAN (EXECUTIVE); Mehmet ALİKAŞİFOĞLU (Assistant Researcher), Nurten Ayşe AKARSU (Assistant Researcher)
• Project No: FBA-2018-17325; 27.09.2018 – 17.07.2020; Project Budget: 128,559.36 TL; Development and Application of Disposable, Label-Free Nanobiosensors for MicroRNA Detection; Zihni Ekim TAŞKIRAN (Assistant Researcher)
• Project No: TSA-2017-15403; 21.11.2017 – 28.01.2020; Project Budget: 166,137.86 TL; Cloning the genes of the structures responsible for the mechanoelectrical cycle in a primary receptor neuron and determining the molecular properties of the encoded proteins; Zihni Ekim TAŞKIRAN (Assistant Researcher)
• Project No: THD-2017-16087; 28.09.2017 – 22.10.2018; Project Budget: 8.812.80 TL; Investigation of CDKN2A and MC1R germline gene mutations in hereditary melanoma; Zihni Ekim TAŞKIRAN (Assistant Researcher)
• Project No: FBA-2017-14491; 01.08.2017 – 31.08.2020; Project Budget: 103,992.39 TL; Detection of gene interaction networks of aristaless and lim homeobox 1 genes, which are important in terms of developmental genetics and biology, on Drosophila melanogaster Genome Reference Panel strains by epistatic genomic mapping method; Nurten Ayşe AKARSU (Assistant Researcher)
• Project No: TSA-2017-12819; 25.01.2017 – 06.09.2019; Project Budget: 117,762,10 TL; Identification of subtypes of metachromatic leukodystrophy, determination of pathogenic mutations, examination of inflammation in pathogenesis; Nurten Ayşe AKARSU (Assistant Researcher)
• Project No: THD-2015-5909; 29.04.2015 – 03.06.2016; Project Budget: 20,696.74 TL; Genetic Analysis in Autosomal Recessive Congenital Ichthyosis Patients; Nurten Ayşe AKARSU (Assistant Researcher), Zihni Ekim TAŞKIRAN (Assistant Researcher)
• Xue JY, Simsek‐Kiper PO, Utine GE, Yan L, Wang Z, Taskiran E, Karaosmanoglu B, Imren G, Göçmen R, Nishimura G, Matsumoto N, Miyake N, Ikegawa S. Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis. J Hum Genet. 2020. (Yayına kabul edildi, basım aşamasında)
• Helvaci N, Kabacam S, Dagdelen S, Lay I, Karabulut E, Mut M, Alikasifoglu M, Erbas T. Klotho gene G395A and C1818T polymorphisms in acromegaly: Association with clinical presentation and comorbidities. Clin Endocrinol (Oxf). 2020. Epub ahead of print. PMID: 33296101.
• Simsek-Kiper PO, Urel-Demir G, Taskiran EZ, Arslan UE, Nur B, Mihci E, Haliloglu M, Alanay Y, Utine GE, Boduroglu K. Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience. J Hum Genet. 2020. Epub ahead of print. PMID: 33288834.
• Horzum U, Yoyen-Ermis D, Taskiran EZ, Yilmaz KB, Hamaloglu E, Karakoc D, Esendagli G. CD66b+ monocytes represent a proinflammatory myeloid subpopulation in cancer. Cancer Immunol Immunother. 2020. Epub ahead of print. PMID: 32632664.
• Ozon ZA, Alikasifoglu A, Kandemir N, Aydin B, Gonc EN, Karaosmanoglu B, Celik NB, Eroglu-Ertugrul NG, Taskiran EZ, Haliloglu G, Oguz KK, Kiper PO, Yalnizoglu D, Utine GE, Alikasifoglu M. Novel insights into diabetes mellitus due to DNAJC3-defect: Evolution of neurological and endocrine phenotype in the pediatric age group. Pediatr Diabetes. 2020; 21(7): 1176-1182.
• Pekgül F, Eroğlu-Ertuğrul NG, Bekircan-Kurt CE, Erdem-Ozdamarc S, Çetinkaya A, Tan E, Konuşkan B, Karaağaoğlu E, Topçu M, Akarsu NA, Oguz KK, Anlar B, Özkara HA. Comprehensive Clinical, Biochemical, Radiological Biochemical and Genetic Analysis of 28 Turkish cases with suspected Metachromatic Leukodystrophy and their relatives. Mol Genet Metab Rep. 2020; 25: 100683.
• Emiralioğlu N, Taşkıran EZ, Koşukcu C, Bilgiç E, Atilla P, Kaya B, Günaydın Ö, Yüzbaşıoğlu A, Tuğcu GD, Ademhan D, Eryılmaz Polat S, Gharibzadeh Hızal M, Yalçın E, Doğru D, Kiper N, Alikaşifoğlu M, Özçelik U. Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: First results from Turkey. Pediatr Pulmonol. 2020; 55(2): 383-393.
• Guleray N, Kosukcu C, Taskiran ZE, Simsek Kiper PO, Utine GE, Gucer S, Tokatli A, Boduroglu K, Alikasifoglu M. Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing. Fetal Pediatr Pathol. 2020; 39(2): 163-171.
• Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR; University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program, Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019; 105(2): 302-316.
• Akdogan N, Kindis E, Bostan E, Utine E, Alikasifoglu M, Ersoy-Evans S. Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis. J Clin Immunol. 2020; 40(6): 934-939.
• Vuralli D, Kosukcu C, Taskiran E, Simsek-Kiper PO, Utine GE, Boduroglu K, Alikasifoglu A, Alikasifoglu M. Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia. Mol Syndromol. 2020; 11(4): 207-216.
• Kosukcu C, Taskiran EZ, Batu ED, Sag E, Bilginer Y, Alikasifoglu M, Ozen S. Whole exome sequencing in unclassified autoinflammatory diseases: more monogenic diseases in the pipeline? Rheumatology (Oxford). 2020: keaa165.
• Isgin-Atici K, Alsulami S, Turan-Demirci B, Surendran S, Sendur SN, Lay I, Karabulut E, Ellahi B, Lovegrove JA, Alikasifoglu M, Erbas T, Vimaleswaran KS, Buyuktuncer Z. FTO gene-lifestyle interactions on serum adiponectin concentrations and central obesity in a Turkish population. Int J Food Sci Nutr. 2020: 1-11.
• Ürel-Demir G, Akgün-Doğan Ö, Oğuz S, Güleray-Lafcı N, Şimşek-Kiper PÖ, Eda Utine G, Alikaşifoğlu M, Boduroğlu K. Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20). Mol Syndromol. 2020; 11(1): 38-42.
• Simsek-Kiper PO, Oguz S, Ergen FB, Utine GE, Alikasifoglu M, Haliloglu G. A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion. Neuropediatrics. 2020; 51(6): 445-449.
• Gonc EN, Ozon ZA, Oguz S, Kabacam S, Taskiran EZ, Kiper POS, Utine GE, Alikasifoglu A, Kandemir N, Boduroglu OK, Alikasifoglu M. Genetic IGF1R defects: new cases expand the spectrum of clinical features. J Endocrinol Invest. 2020; 43(12): 1739-1748.
• Gülseren D, Güleray N, Akgün-Doğan Ö, Şimşek-Kiper PÖ, Utine EG, Alikaşifoğlu M, Ersoy-Evans S. Café noir spots: a feature of familial progressive hyper- and hypopigmentation. J Eur Acad Dermatol Venereol. 2020; 34(2): e76-e77.
• Acar NP, Tuncer A, Ozkazanc D, Ozbay FG, Karaosmanoglu B, Goksen S, Sayat G, Taskiran EZ, Esendagli G, Karabudak R. An immunological and transcriptomics approach on differential modulation of NK cells in multiple sclerosis patients under interferon-β1 and fingolimod therapy. J Neuroimmunol. 2020; 347: 577353.
• Gökçinar-Yagci B, Karaosmanoglu B, Taskiran EZ, Çelebi-Saltik B. Transcriptome and proteome profiles of human umbilical cord vein CD146+ stem cells. Mol Biol Rep. 2020; 47(5): 3833-3856.
• Gizer M, Köse S, Karaosmanoglu B, Taskiran EZ, Berkkan A, Timuçin M, Korkusuz F, Korkusuz P. The Effect of Boron-Containing Nano-Hydroxyapatite on Bone Cells. Biol Trace Elem Res. 2020; 193(2): 364-376.
• Özen S, Batu ED, Taşkıran EZ, Özkara HA, Ünal Ş, Güleray N, Erden A, Karadağ Ö, Gümrük F, Çetin M, Sönmez HE, Bilginer Y, Ayvaz DÇ, Tezcan I. A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2. J Rheumatol. 2020; 47(1): 117-125.
• Yalici-Armagan B, Kabacam S, Taskiran ZE, Gököz Ö, Utine GE, Ersoy-Evans S. A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema. Pediatr Dermatol. 2020; 37(2): 358-361.
• Taylan Sekeroglu H, Karaosmanoglu B, Taskiran E, Z, Simsek Kiper P, O, Alikasifoglu M, Boduroglu K, Coskun T, Utine G, E. Molecular Etiology of Isolated Congenital Cataract Using Next-Generation Sequencing: Single Center Exome Sequencing Data from Turkey. Mol Syndromol. 2020; 11: 302-308.
• Simsek-Kiper PO, Taskiran E, Kosukcu C, Arslan UE, Cormier-Daire V, Gonc N, Ozon A, Alikasifoglu A, Kandemir N, Utine GE, Alanay Y, Alikasifoglu M, Boduroglu K. Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. Am J Med Genet A. 2019; 179(7): 1157-1172.
• Guleray N, Simsek Kiper PO, Utine GE, Boduroglu K, Alikasifoglu M. Intrafamilial variability of XYLT2-related spondyloocular syndrome. Eur J Med Genet. 2019; 62(11): 103585.
• Ardıçlı D, Haliloğlu G, Alikaşifoğlu M, Topaloğlu H. Diagnostic Pathway to Nonsense Mutation Dystrophinopathy: A Tertiary-Center, Retrospective Experience. Neuropediatrics. 2019; 50(1): 41-45.
• Nemutlu E, Orgul G, Recber T, Aydin E, Ozkan E, Turgal M, Alikasifoglu M, Kir S, Beksac MS. Metabolic Infrastructure of Pregnant Women With Trisomy 21 Fetuses; Metabolomic Analysis. Z Geburtshilfe Neonatol. 2019; 223(5): 297-303.
• Helvaci N, Oguz SH, Kabacam S, Karabulut E, Akbiyik F, Alikasifoglu M, Gurlek A. Clock gene PERIOD3 polymorphism is associated with susceptibility to Graves' disease but not to Hashimoto's thyroiditis. Chronobiol Int. 2019; 36(10): 1343-1350.
• Taskiran EZ, Sonmez HE, Kosukcu C, Tavukcuoglu E, Yazici G, Esendagli G, Batu ED, Kiper POS, Bilginer Y, Alikasifoglu M, Ozen S. A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behçet's Disease. J Clin Immunol. 2019; 39(1): 99-105.
• Simsek-Kiper PO, Kosukcu C, Akgun-Dogan O, Gocmen R, Utine GE, Soyer T, Korkmaz-Toygar A, Nishimura G, Alikasifoglu M, Boduroglu K. A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate. Eur J Med Genet. 2019; 62(1): 21-26.
• Akgün Doğan Ö, Demir GÜ, Kosukcu C, Taskiran EZ, Simsek-Kiper PÖ, Utine GE, Alikaşifoğlu M, Boduroğlu K. Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum. Eur J Med Genet. 2019; 62(6): 103535.
• Akgun-Dogan O, Simsek-Kiper PO, Taskiran E, Lissewski C, Brinkmann J, Schanze D, Göçmen R, Cagdas D, Bilginer Y, Utine GE, Zenker M, Ozen S, Tezcan İ, Alikasifoglu M, Boduroğlu K. ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes. Am J Med Genet A. 2019; 179(12): 2474-2480.
• Sendur SN, Oguz S, Utine GE, Dagdelen S, Oguz KK, Erbas T, Alikasifoglu M. A case of Woodhouse-Sakati syndrome with pituitary iron deposition, cardiac and intestinal anomalies, with a novel mutation in DCAF17. Eur J Med Genet. 2019; 62(8): 1036870.
• Ceylan AC, Sahin I, Erdem HB, Kayhan G, Simsek-Kiper PO, Utine GE, Percin F, Boduroglu K, Alikasifoglu M. An eight-case 1q21 region series: novel aberrations and clinical variability with new features. J Intellect Disabil Res. 2019; 63(6): 548-557.
• Erol T, İmamoğlu NE, Aydin B, Taşkiran ZE, Esendağli G, Kösemehmetoğlu K, Baykal A. Primary tumor resection for initially staged IV breast cancer: An emphasis on programmed death-ligand 1 expression, promoter methylation status, and survival. Medicine (Baltimore). 2019; 98(33): e16773.
• Ürel-Demir G, Taşkıran EZ, Akgün-Doğan Ö, Şimşek-Kiper PÖ, Utine GE. Ophthalmo-acromelic syndrome in an infant. Eur J Med Genet. 2019; 62(7): 103664.
• Taşkiran EZ, Karaosmanoğlu B. Transcriptome analysis reveals differentially expressed genes between human primary bone marrow mesenchymal stem cells and human primary dermal fibroblasts. Turk J Biol. 2019; 43(1): 21-27.
• Şahin Ş, Bilgiç E, Salimi K, Tuncel A, Karaosmanoğlu B, Taşkıran EZ, Korkusuz P, Korkusuz F. Development, characterization and research of efficacy on in vitro cell culture of glucosamine carrying hyaluronic acid nanoparticles. J Drug Deliv Sci Technol. 2019; 52: 393-402.
• Batu ED, Koşukcu C, Taşkıran E, Sahin S, Akman S, Sözeri B, Ünsal E, Bilginer Y, Kasapcopur O, Alikaşifoğlu M, Ozen S. Whole Exome Sequencing in Early-onset Systemic Lupus Erythematosus. J Rheumatol. 2018; 45(12): 1671-1679.
• Sönmez HE, Batu ED, Taşkıran EZ, Alikaşifoğlu M, Bilginer Y, Özen S. Genetic testing for DADA2: How can we avoid missing patients? Eur J Hum Genet. 2018; 26(11): 1563-1565.
• Simsek-Kiper PO, Taskiran EZ, Kosukcu C, Urel-Demir G, Akgun-Dogan O, Yilmaz G, Utine GE, Nishimura G, Boduroglu K, Alikasifoglu M. Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis. Am J Med Genet A. 2018; 176(9): 2009-2016.
• Akgün Doğan Ö, Ürel Demir G, Arslan U, Şimşek-Kiper PÖ, Utine GE, Alikaşifoğlu M, Boduroğlu K. Prenatal and Postnatal Follow-up in Trisomies 13 and 18: A 20-Year Experience in a Tertiary Center. Am J Perinatol. 2018; 35(5): 427-433.
• Utine GE, Şimşek-Kiper PÖ, Akgün-Doğan Ö, Ürel-Demir G, Alanay Y, Aktaş D, Boduroğlu K, Tunçbilek E, Alikaşifoğlu M. Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry. Eur J Obstet Gynecol Reprod Biol. 2018; 221: 76-80.
• Taşkıran EZ, Sönmez HE, Ayvaz DÇ, Koşukcu C, Batu ED, Esenboğa S, Topaloğlu R, Orhan D, Bilginer Y, Alikaşifoğlu M, Özen S, Tezcan İ. Hypomorphic RAG1 defect in a child presented with pulmonary hemorrhage and digital necrosis. Clin Immunol. 2018; 187: 92-94.
• Zengin-Akkuş P, Taşkıran EZ, Kabaçam S, Şimşek-Kiper PÖ, Haliloğlu G, Boduroğlu K, Utine GE. Clinical and molecular evaluation of 16 patients with Rett syndrome. Turk J Pediatr. 2018; 60(1): 1-9.
• Bilgin B, Kabaçam S, Taşkıran E, Şimşek-Kiper PÖ, Alanay Y, Boduroğlu K, Utine GE. Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome. Turk J Pediatr. 2018; 60(5): 506-513.
• Köse S, Aerts-Kaya F, Köprü ÇZ, Nemutlu E, Kuşkonmaz B, Karaosmanoğlu B, Taşkıran EZ, Altun B, Uçkan Çetinkaya D, Korkusuz P. Human bone marrow mesenchymal stem cells secrete endocannabinoids that stimulate in vitro hematopoietic stem cell migration effectively comparable to beta-adrenergic stimulation. Exp Hematol. 2018; 57: 30-41.e1.
• Seo A, Steinberg-Shemer O, Unal S, Casadei S, Walsh T, Gumruk F, Shalev S, Shimamura A, Akarsu NA, Tamary H, King MC. Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1. Proc Natl Acad Sci U S A. 2018; 115(20): 5241-5246.
• Utine GE, Taşkıran EZ, Koşukcu C, Karaosmanoğlu B, Güleray N, Doğan ÖA, Kiper PÖ, Boduroğlu K, Alikaşifoğlu M. HERC1 mutations in idiopathic intellectual disability. Eur J Med Genet. 2017; 60(5): 279-283.
• Çetinkaya A, Taşkıran E, Soyer T, Şimşek-Kiper PÖ, Utine GE, Tunçbilek G, Boduroğlu K, Alikaşifoğlu M. Dermal fibroblast transcriptome indicates contribution of WNT signaling pathways in the pathogenesis of Apert syndrome. Turk J Pediatr. 2017; 59(6): 619-624.
• Ardicli D, Taskiran EZ, Kosukcu C, Temucin C, Oguz KK, Haliloglu G, Alikasifoglu M, Topaloglu H. Neonatal-Onset Recurrent Guillain-Barré Syndrome-Like Disease: Clues for Inherited CD59 Deficiency. Neuropediatrics. 2017; 48(6): 477-481.
• Erbas T, Cinar N, Dagdelen S, Gedik A, Yorgun H, Canpolat U, Kabakci G, Alikasifoglu M. Association between ACE and AGT polymorphism and cardiovascular risk in acromegalic patients. Pituitary. 2017; 20(5): 569-577.
• Doğan ÖA, Şimşek Kiper PÖ, Utine GE, Alikaşifoğlu M, Boduroğlu K. A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome. Korean J Fam Med. 2017; 38(2): 102-105.
• Taskiran EZ, Karaosmanoglu B, Koşukcu C, Doğan ÖA, Taylan-Şekeroğlu H, Şimşek-Kiper PÖ, Utine EG, Boduroğlu K, Alikaşifoğlu M. Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome. Am J Med Genet A. 2017; 173(12): 3143-3152.
• Ürel Demir G, Doğan ÖA, Şimşek Kiper PÖ, Utine GE, Boduroğlu K, Gucer S, Alikaşifoğlu M. Coexistence of Trisomy 13 and SRY (-) XX Ovotesticular Disorder of Sex Development. Fetal Pediatr Pathol. 2017; 36(6): 445-451.
• Sonmez FM, Uctepe E, Aktas D, Alikasifoglu M. Microdeletion of chromosome 1q21.3 in fraternal twins is associated with mental retardation, microcephaly, and epilepsy. Intractable Rare Dis Res. 2017; 6(1): 61-64.
• Akin S, Noyan S, Dagdelen S, Pasaoglu I, Kaynaroglu V, Askun MM, Bilen CY, Kiratli H, Baydar DE, Onder S, Sokmensuer C, Aytemir K, Erkin G, Kiratli PO, Alikasifoglu M, Erbas T. Unusual presentations of Carney Complex in patient with a novel PRKAR1A mutation. Neuro Endocrinol Lett. 2017; 38(4): 248-254.
• Topçu M, Aktas D, Öztoprak M, Mungan NÖ, Yuce A, Alikasifoglu M. Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member. Mol Diagn Ther. 2017; 21(6): 643-651.
• Carapito R, Konantz M, Paillard C, Miao Z, Pichot A, Leduc MS, Yang Y, Bergstrom KL, Mahoney DH, Shardy DL, Alsaleh G, Naegely L, Kolmer A, Paul N, Hanauer A, Rolli V, Müller JS, Alghisi E, Sauteur L, Macquin C, Morlon A, Sancho CS, Amati-Bonneau P, Procaccio V, Mosca-Boidron AL, Marle N, Osmani N, Lefebvre O, Goetz JG, Unal S, Akarsu NA, Radosavljevic M, Chenard MP, Rialland F, Grain A, Béné MC, Eveillard M, Vincent M, Guy J, Faivre L, Thauvin-Robinet C, Thevenon J, Myers K, Fleming MD, Shimamura A, Bottollier-Lemallaz E, Westhof E, Lengerke C, Isidor B, Bahram S. Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features. J Clin Invest. 2017; 127(11): 4090-4103.
• Dinçer T, Yorgancıoğlu-Budak G, Ölmez A, Er İ, Dodurga Y, Özdemir ÖM, Toraman B, Yıldırım A, Sabir N, Akarsu NA, Semerci CN, Kalay E. Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome. Eur J Hum Genet. 2017; 25(10): 1118-1125.
• Dökmeci-Emre S, Taşkıran ZE, Yüzbaşıoğlu A, Önal G, Akarsu AN, Karaduman A, Özgüç M. Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis. Turk J Pediatr. 2017; 59(4): 475-482.
• Cetinkaya A, Xiong JR, Vargel İ, Kösemehmetoğlu K, Canter Hİ, Gerdan ÖF, Longo N, Alzahrani A, Camps MP, Taskiran EZ, Laupheimer S, Botto LD, Paramalingam E, Gormez Z, Uz E, Yuksel B, Ruacan Ş, Sağıroğlu MŞ, Takahashi T, Reversade B, Akarsu NA. Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling. Am J Hum Genet. 2016; 99(2): 299-317.
• Unal D, Unal MF, Alikasifoglu M, Cetinkaya A. Genetic variations in attention deficit hyperactivity disorder subtypes and treatment resistant cases. Psychiatry Investig. 2016; 13(4): 427-433.
• Kilic E, Cetinkaya A, Utine GE, Boduroğlu K. A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome. J Child Neurol. 2016; 31(7): 913-917.
• Teke MY, Citirik M, Kabacam S, Demircan S, Alikasifoglu M. A novel missense mutation of the GRK1 gene in Oguchi disease. Mol Med Rep. 2016; 14(4): 3129-3133.
• Taylan Şekeroğlu H, Utine GE, Alikaşifoğlu M. A Baseline Algorithm for Molecular Diagnosis of Genetic Eye Diseases: Ophthalmologist's Perspective. Turk J Ophthalmol. 2016; 46(6): 299-300.
• Yee CS, Massaad MJ, Bainter W, Ohsumi TK, Föger N, Chan AC, Akarsu NA, Aytekin C, Ayvaz DÇ, Tezcan I, Sanal Ö, Geha RS, Chou J. Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association. J Allergy Clin Immunol. 2016; 137(3): 879-88.e2.