Personal Information
Ferda Perçin

Department of Medical Genetics, Gazi University, Ankara, Yenimahalle, Turkey

Ferda Perçin
Educations
From 1999 to 2001, Post Doctoral Fellowship , UCONN Healt Center, USA
From 1990 to 1996, Doctorate , Turkey
From 1982 to 1988, Medical Doctor , Turkey
Work Experiences
From 2005 to Continue, Professor , Gazi University, Turkey
From 2004 to 2005, Associate Professor , Gazi University, Turkey
From 1999 to 2004, Associate Professor , Cumhuriyet University, Turkey
From 1999 to 2001, Post Doctoral Fellowship , UCONN Health Center, USA
From 1994 to 1999, Assistan Professor , Cumhuriyet University, Turkey
Projects
From 2015 to 2017, Investigation of total gene expression in children with hypospadias
From 2015 to 2015, Investigation of candidate gene / genes by a new generation sequencing method in a family with restless leg syndrome
From 2012 to 2013, Investigation of GDF5 gene polymorphism in patients with knee osteoarthritis
From 2012 to 2013, Investigation of SHOX gene by fluorescence in situ hybridization and sequence analysis methods in patients with idiopathic short stature
From 2010 to 2014, Mechanism of Retinogenesis in Human Stem Cells
From 2010 to 2011, Investigation of Submicroscopic Chromosomal Anomalies by Molecular Karyotyping in Patients with Unexplained Mental Retardation
From 2008 to 2010, Linkage Analysis in a Family with Autosomal Dominant Alport Syndrome
From 2009 to 2010, Using Conventional Cytogenetics, Molecular Cytogenetics and Molecular Genetic Methods in the Diagnosis of Prader Willi and Angelman Syndrome
From 2008 to 2009, Follow-up in Attention Deficit and Hyperactivity Disorder: Changes in clinical features, factors affecting on course and genetic correlation
From 2007 to 2009, FMF Gene Mutation in Ulcerative Colitis Patients
From 2007 to 2009, Investigation of chromosomal imbalances in patients with familial and non-familial schizophrenia by conventional cytogenetic and molecular cytogenetic methods
From 2007 to 2009, Linkage analysis in congenital hip dislocation disease
From 2007 to 2010, Linkage Analysis in a Family of Progressive Pseudoromatoid Dysplasia
From 2006 to 2008, Effect of chlorella type microalgae on intestinal adaptation in short bowel syndrome
From 2006 to 2010, Establishment of a National Network for Biobanking Activities (BIYONET)
From 2005 to 2008, Separation of maternal cell contamination using molecular techniques in spontaneous abortion materials with 46, XX karyotype
From 2004 to 2010, Mutation analysis on candidate genes that may contribute to mesoaxial synostotic syndactyly
From 2002 to 2004, “Association between Preeklampsia, Eklampsia and HELLP Syndrome Risk and Glutation S- Transferase M1, Glutation S- Transferase T, Microsomal Epokside Hidrolase and Aldosteron Syntase (CYP11B2) Gene Polymorphisms”
From 2002 to 2004, “Linkage Analysis on Type I Syndactyly Families”
From 2000 to 2001, "Genom-wide Search for Identification of a Gene for Open-angle Glacoma” and ‘Genom-wide Search for Microphthalmia’
From 1998 to 1999, "Positional Cloning and Mutation Analysis of Autosomal Recessive Microphthalmia Gene”
From 1999 to 2001, “Adenosine Deaminase Enzyme Polymorphism and Allel Frequency in the Turkish Population”
From 1998 to 2001, “Superoxide Dismutase A Enzyme Polymorphism, Allel Frequency and Activity in the Turkish Population”
From 1998 to 2001, “SCE Frequency in Individuals who Treated with PUVA “
From 1992 to 1994, Polymorphism of ESD, PGM1 Enzyme Systems and ABO, Rh Blood Groups in Turkish Population
Speciality
Medical Genetics
Clinical Genetics
Molecular Genetics
Book
Tıbbi Genetik ve Klinik Uygulamaları. Editör Munis Dündar. Cilt II, Bölüm 27 Dismorfik hastaya yaklaşım. Sayfa 649-683, 2016. MGrup Matbaacılık Kayseri. ISBN: 978-605-85579-8-7.
Percin EF: İskelet Displazilerinde Tedavi. Sezgin İ editör. İskelet Displazileri. 1. Baskı. Ankara: Türkiye Klinikleri; 2019. P.90-6.
Journal Articles
Perçin E.F., Ploder L.A., Yu J.J., Arıcı K., Horsford J., Rutherford A., Bapat B., Cox D.W., Duncan A.M.V., Kalnins V.I., Altıntas-Kocak A., Sowden J.C., Trabulsi E., Sarfarazı M., McInnes R.R.: Human microphthalmia associated wıth mutations in the retinal homeobox gene CHX10. Nature Genetics, Vol 25: 397-401, 2000.
Van Bokhoven H., Celli J., Kayserili H., Van Beusekom E., Balcı S., Brussel W., Skovby F., Kerr B., Percin E.F., Akarsu N., Brunner H.G.: Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nature Genetics, Vol: 25: 423-426, 2000.
Perçin E.F., Perçin S.: Two unusual types of syndactyly in the same family; Cenani-Lenz type and ‘new’ type versus severe type I syndactyly. Genetic Counseling, Vol: 14 (3), 313-319, 2003.
Malik S., Percin E.F., Ahmad W., Percin S., Akarsu A.N., Koch M.C., Grzeschik K.H.: Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3. American Journal of Medical Genetics Vol: 134(4): 404-408, 2005.
Cetin M., Pinarbasi E., Percin E.F., Akgün E., Percin S., Pinarbasi H., Gürlek F., Cetin A.: No association of polymorphisms in the glutathione S-transferase genes with preeclampsia, eclampsia and HELLP syndrome in a Turkish population. Journal of Obstetrics and Gynecology Research Vol: 31(3): 236-241, 2005.
Percin E.F., Cetin M., Pinarbasi E., Akgün E., Gurlek F., Cetin A.: Lack of association between CYP11B2 gene polymorphism and preeclampsia, eclampsia and HELLP syndrome in Turkish women. Eur J Obstet Gynecol Reprod Biol. 2006 Aug;127(2):213-217. Epub 2005 Nov 21.
Karaer K., Karaoğuz M.Y., Ergün M.A., Yeşilkaya E., Bideci A., Perçin E.F.: Floating-Harbor syndrome: A first female Turkish patient. Genetic Counseling 17(4):465-468, 2006.
Pinarbasi E., Percin E.F., Yilmaz M., Cetin M., Cetin A.: The Association of Microsomal Epoxide Hydrolase Gene Polymorphism and Preeclampsia in Turkish Women. Hypertension in Pregnancy Hypertension in Pregnancy 13(1): 32-37, 2007.
Koç. A., Karaer K., Cinaz P., Perçin E.F.: A new case of hairy elbows syndrome (hypertrichosis cubiti). Genetic Counseling, 18(3):325-30, 2007.
Koç. A., Kan D., Karaer K., Ergün M.A., Karaoğuz M, Gücüyener K., Hinreiner S.,Liar B., Perçin E.F.: An unexpected finding in a child with neurological problems: Mosaic ring chromosome 18. European Journal of Pediatrics Eur J Pediatr. 2007 Aug 1; [Epub ahead of print].
Koç A., Karaoğuz M., Pala E., Kan D., Karaer K., Gücüyener K., Perçin E.F. : A boy with small supernumerary marker chromosome X identified by FISH. Genetic Counseling, 18 (4): 393-399, 2007.
Yeşilkaya E, Karaer K, Bideci A, Camurdan O, Perçin E.F, Cinaz P: Dubowitz syndrome: a cholesterol metabolism disorder? Genet Couns. 2008;19(3):287-90.
Karaer A, Karaer K, Ozaksit G, Ceylaner S, Percin E.F. : Y chromosome azoospermia factor region microdeletions and recurrent pregnancy loss. Am J Obstet Gynecol. 2008 Sep 24.
Kerem M, Salman B, Pasaoglu H, Bedirli A, Alper M, Katircioglu H, Atici T, Percin E.F., Ofluoglu E. Effects of microalgae chlorella species crude extracts on intestinal adaptation in experimental short bowel syndrome. Wor J Gastroenterol. 2008 Jul 28;14(28): 4512-7.
Koç A, Kaymak AO, Karaer K, Ergün MA, Aksu T, Perçin E.F.: A case with bilateral radio-ulnar synostosis. Genet Couns. 2008;19(2):193-8.
Koç A, Onur SO, Ergün MA, Perçin EF: Supernumerary marker chromosome 15 in a male with azoospermia and open bite deformity. Asian J Androl. 2009 Sep;11(5):617-22. Epub 2009 Aug 24.
Kaya Z., Kocak U., Perçin F., Kunishima S., Albayrak M., Gürsel T.: Paris Trousseau type macrothrombocytopenia withouth 11q deletion. Pediatr Int. 2010 Apr;52(2):e67-71
Yirmibeş Karaoğuz M., Perçin E.F., Pala E., Biri A.A., Korucuoğlu U.: SRY gene amplifications and genotypings revealed the occurrence of the hidden maternal decidual cells in 46,XX karyotyped spontaneous abortions. Genet Couns. 2010;21(1):9-17.
Karner CM, Dietrich MF, Johnson EB, Kappesser N, Tennert C, Percin F, Wollnik B, Carroll TJ, Herz J. Lrp4 regulates initiation of ureteric budding and is crucial for kidney formation--a mouse model for Cenani-Lenz syndrome. PLoS One. 2010 Apr 29;5(4):e10418.
Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nürnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nürnberg P, Herz J, Temtamy SA, Wollnik B. LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. Am J Hum Genet. 2010 May 14;86(5):696-706. Epub 2010 Apr 8.
Ozdemir O, Olgunturk R, Karaer K, Ergun MA, Tunaoglu FS, Kula S, Percin FE. Fibrillin-1 gene intron 56 polymorphism in Turkish children with mitral valve prolapse. Cardiol Young. 2010 Apr;20(2):173-7. Epub 2010 Mar 4.
Egritas O, Cavdarli B, Dalgic B, Ergun MA, Percin F, Ziegler M, Pohle B, Liehr T. Duplication 4q associated with chronic cholestatic changes in liver biopsy. Eur J Med Genet. 2010 Sep 6. [Epub ahead of print].
Yıldırım B, Tuncer C, Kan D, Tunc B, Demirag MD, Ferda Percın E, Haznedaroglu S, Alagozlu H. MEFV gene mutations and its impact on the clinical course in ulcerative colitis patients. Rheumatol Int. 2010 Mar 12. [Epub ahead of print].
Ergün MA, Kula S, Karaer K, Perçin EF.: A case with de novo inv dup del(8p) associated with dextrocardia and corpus callosum agenesis. Pediatr Int. 2010 Oct;52(5):845-6.
Koc A, Karaoguz MY, Cosar B, Percin, E. F., Sahin S., Baysak E., Acikyurek K.: The importance of systematic genetic approach to familial schizophrenia cases and discussion of cryptic mosaic X chromosome aneuploidies in schizophrenia pathogenesis . International Journal of Psychiatry in Clinical Practice. 2010 Sep 14 (3): 204-211.
Albayrak M, Konyssova U, Kaya Z, Gursel T, Guntekin S, Percin EF, Kocak U.: Thiopurine methyltransferase polymorphisms and mercaptopurine tolerance in Turkish children with acute lymphoblastic leukemia. Cancer Chemother Pharmacol. 2011 Mar 13. [Epub ahead of print]
Tug E., Percin F.E., Pala E., Baysoy G.: Linkage analysis and a novel COL4A5 mutation in a large Turkish family with Alport syndrome. Genet Couns. 2011;22(2):143-53.
Phillips M.J., Wallace K.A., Dickerson S.J., Miller M.J., Verhoeven A.D., Martin J.M., Wright L.S., Shen W., Capowski E.E., Percin E.F., Perez E.T., Zhong X., Canto-Soler M.V., Gamm D.M.: Blood-Derived Human iPS Cells Generate Optic Vesicle-Like Structures with the Capacity to Form Retinal Laminae and Develop Synapses. Invest Ophthalmol Vis Sci. 2012 Apr 18;53(4):2007-19. Print 2012 Apr.
Tug E., Çavdarlı B., Yirmibeş Karaoguz M., Percin F.E.: A patient with 9q subtelomeric deletion syndrome with additional findings.Genet Couns. 2012;23(4):465-71.
Kayhan G., Çavdarli B., Yirmibeş Karaoğuz M., Percin E.F., Öztürk Kaymak A., Biri A., Ergun M.A.: Molecular karyotyping of an isolated partial trisomy 11q patient with additional findings. Gene. 2013 Jul 25;524(2): 355-60.
Tug E., Dilek N.F., Javadiyan S., Burdon K.P., Percin F.E.: A Turkish family with Nance-Horan Syndrome due to a novel mutation. Gene. 2013 Aug 1;525(1):141-5.
Pampal A., Özbayoğlu A., Kaya C., Pehlivan Y., Poyraz A., Özen O., Percin E.F., Demirogulları B.: Rectal duplications accompaying rectovestibular fistula: Report of two cases. Pediatrics International. 2013 55, e86-e89.
Güney E., İşeri E.,Ergun S.G., Percin E.F. , Ergun, M.A.,Yalcin, O., Sener, S.: The correlation of attention deficit hyperactivity disorder with DRD4 gene polymorphism in Turkey. International Journal of Human Genetics, Volume 13, Issue 3, 2013, Pages 145-152
Alanay Y., Ergüner B., Utine E., Haçarız O., Kiper P.O., Taşkıran E.Z., Perçin F., Uz E., Sağıroğlu M.S., Yuksel B., Boduroglu K., Akarsu N.A.: TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia. Am J Med Genet A. 2014 Feb;164A(2):291-304. doi: 10.1002/ajmg.a.36248. Epub 2013 Nov 5. Review. PMID: 24194475 [PubMed - indexed for MEDLINE]
Phillips MJ,Perez ET,Martin JM,Reshel ST, Wallace KA, Capowski EE, Singh R, Wright LS,Clark EM,Barney PM,Stewart R,Dickerson SJ,Miller MJ, Percin EF, Thomson JA, Gamm DM. Modeling human retinal development with patient-specific iPS cells reveals multiple roles for VSX2. Stem Cells. 2014, Jun;32(6):1480-92. doi: 10.1002/stem.1667.
Özbey G., Yücel B., Taycan S.E., Kan D, Bodur N.E., Arslan T.,Percin F., Yuksel N., Guzey C, Uluoglu C.: ABCB1 C3435T polymorphism is associated with susceptibility to major depression, but not with a clinical response to citalopram in a Turkish population. Pharmacol Rep. 2014 Apr;66(2):235-8. doi: 10.1016/j.pharep.2013.09.004. Epub 2014 Mar 2.
Tuğ E., Yirmibeş Karaoğuz M., Kayhan G., Ergün M.A., Perçin F.E.: Chromosomal-array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case. Am J Med Genet A. 2014 Jul;164(7):1770-6. doi: 10.1002/ajmg.a.36495. Epub 2014 Mar 26.
Gunley, E., İşeri E. ; Ergun S.G. ; Percin EF; Ergun M.A.; Yalcin O. ; Sener S.: T102C and 1438 G/A Polymorphisms of the Serotonin 2A Receptor Gene in Etiology and Course of ADHD. International Journal of Human Genetics Volume: 14 Issue: 2 Pages: 59-66 Published: JUN 2014.
Aytekin E, Ergun SG, Ergun MA, Percin FE.: Evaluation of GenoFlow Thrombophilia Array Test Kit in Its Detection of Mutations in Factor V Leiden (G1691A), Prothrombin G20210A, MTHFR C677T and A1298C in Blood Samples from 113 Turkish Female Patients. Genet Test Mol Biomarkers. 2014 Nov;18(11):717-21. doi: 10.1089/gtmb.2014.0143. Epub 2014 Aug 25. PMID: 25153695 [PubMed - in process]
Malik S, Percin FE, Bornholdt D, Albrecht B, Percesepe A, Koch MC, Landi A, Fritz B, Khan R, Mumtaz S, Akarsu NA, Grzeschik KH. Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type. Am J Hum Genet. 2014 Dec 4;95(6):649-59. doi: 10.1016/j.ajhg.2014.10.012. Epub 2014 Nov 13.
Hussain MS, Battaglia A, Szczepanski S, Kaygusuz E, Toliat MR, Sakakibara S, Altmüller J, Thiele H, Nürnberg G, Moosa S, Yigit G, Beleggia F, Tinschert S, Clayton-Smith J, Vasudevan P, Urquhart JE, Donnai D, Fryer A, Percin F, Brancati F, Dobbie A, Smigiel R, Gillessen-Kaesbach G, Wollnik B, Noegel AA, Newman WG, Nürnberg P.: Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome. Am J Hum Genet. 2014 Nov 6;95(5):622-32. doi: 10.1016/j.ajhg.2014.10.008. Epub 2014 Nov 6.
Bögershausen N, Tsai IC, Pohl E, Kiper PÖ, Beleggia F, Percin EF, Keupp K, Matchan A, Milz E, Alanay Y, Kayserili H, Liu Y, Banka S, Kranz A, Zenker M, Wieczorek D, Elcioglu N, Prontera P, Lyonnet S, Meitinger T, Stewart AF, Donnai D, Strom TM, Boduroglu K, Yigit G, Li Y, Katsanis N, Wollnik B. RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome. J Clin Invest. 2015 Sep 1;125(9):3585-99. doi: 10.1172/JCI80102. Epub 2015 Aug 17.
Saat H., Soysal Y., Kurtgoz MA, Ergun MA, Percin EF: A patient with partial chromosome 12q duplication and 10q deletion. Genetic Counseling, Vol: 26 (4), 401-407, 2015.
Mermer S, Kayhan G, Karacelebi E, Percin FE.: Oculoectodermal syndrome: a new case wıth gıant cell granulomas and non-ossıfyıng fıbromas. Genet Couns. 2016;27(1):77-81.
Boppudi S, Bögershausen N, Hove HB, Percin EF, Aslan D, Dvorsky R, Kayhan G, Li Y, Cursiefen C, Tantcheva-Poor I, Toft PB, Bartsch O, Lissewski C, Wieland I, Jakubiczka S, Wollnik B, Ahmadian MR, Heindl LM, Zenker M.: Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis. Clin Genet. 2016 Oct;90(4):334-42. doi: 10.1111/cge.12775. Epub 2016 Apr 29.
Dilek FN, Perçin EF, Kayserili H, Ergün MA, Saka N: Submicroscopic duplication of 8q24.3 regionis a potential candidate for disorders of sex development. Genetic Counseling, Vol 27 (3), 385-392, 2016.
Özyavuz Çubuk P, Ho L, Reversade B, Perçin EF: Mattew-Wood syndrome: A case with dextrocardia and streak gonads. Genetic Counseling, Vol 27 (3), 405-410, 2016.
Bahsi T, Unal A, Bakır A, Perçin EF: The 3rd mutation in EIF2AK3 gene from Turkey: A new patient with Wolcott-Rallison syndrome. Genetic Counseling, Vol 27 (3), 411-418, 2016.
Tuğ E, Ergün MA, Percin FE: MECP2 duplication syndrome with additional findings. Genetic Counseling, Vol 27 (4), 471-478, 2016.
Yazıcıoğlu B, Kaya Z, Güntekin Ergün S, Perçin F, Koçak Ü, Yenicesu İ, Gürsel T: Influence Of Folate-Related Gene Polymorphisms On High-Dose Methotrexate-Related Toxicity And Prognosis In Turkish Children With Acute Lymphoblastıc Leukemıa. Turk J Haematol. 2017 Jun 5;34(2):143-150.
Ergun SG, Akay GG, Ergun MA, Perçin EF: LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia. Eur J Med Genet. 2017 Mar; 60 (3): 200-204. doi: 10.1016/ j.ejmg.2017.01.007.
Ozbey G, Celikel FC, Cumurcu BE, Kan D, Yucel B, Hasbek E, Percin F, Guzey IC, Uluoglu C: Influence of ABCB1 polymorphisms and serum concentrations on venlafaxine response in patients with major depressive disorder. Nord J Psychiatry. 2017 Jan 12: 1-11. doi: 10.1080/08039488.2016.1268203. [Epub ahead of print]
Reynolds JJ, Bicknell LS, Carroll P, Higgs MR, Shaheen R, Murray JE, Papadopoulos DK, Leitch A, Murina O, Tarnauskaitė Ž, Wessel SR, Zlatanou A, Vernet A, von Kriegsheim A, Mottram RM, Logan CV, Bye H, Li Y, Brean A, Maddirevula S, Challis RC, Skouloudaki K, Almoisheer A, Alsaif HS, Amar A, Prescott NJ, Bober MB, Duker A, Faqeih E, Seidahmed MZ, Al Tala S, Alswaid A, Ahmed S, Al-Aama JY, Altmüller J, Al Balwi M, Brady AF, Chessa L, Cox H, Fischetto R, Heller R, Henderson BD, Hobson E, Nürnberg P, Percin EF, Peron A, Spaccini L, Quigley AJ, Thakur S, Wise CA, Yoon G, Alnemer M, Tomancak P, Yigit G, Taylor AM, Reijns MA, Simpson MA, Cortez D, Alkuraya FS, Mathew CG, Jackson AP, Stewart GS.: Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. Nat Genet. 2017 Feb 13. doi: 10.1038/ng.3790. [Epub ahead of print]
Kayilioğlu H, Kocak U, Kan Karaer D, Percin EF, Sal E, Tekkesin F, Isik M, Oner N, Belen FB, Yilmaz Keskin E, Okur A, Albayrak M, Kaya Z, Pinarli FG, Yenicesu I, Karadeniz C, Oguz A, Gursel T.: Association of CYP3A5 Expression and Vincristine Neurotoxicity in Pediatric Malignancies in Turkish Population. J Pediatr Hematol Oncol. 2017 Aug;39(6):458-462. doi: 10.1097/MPH.0000000000000910.
Ozcan SS, Korkmaz M, Balbaloglu O, Percin F, Yilmaz N, Erdogan Y, Gunaydin I: Polymorphisms in the Growth Differentiation Factor 5 (GDF 5) Gene in Knee Osteoarthritis. J Coll Physicians Surg Pak. 2017 Oct;27(10):602-605. doi: 2717.
Fanjul M, Samuk I, Bagolan P, Leva E, Sloots C, Giné C, Aminoff D, Midrio P; ARM-Net Consortium: Tethered cord in patients affected by anorectal malformations: a survey from the ARM-Net Consortium. Pediatr Surg Int. 2017 Aug;33(8):849-854. doi: 10.1007/s00383-017-4105-4. Epub 2017 Jul 3.
Kayhan G, Ergün MA, Güntekin Ergün S, Kula S, Perçin EF: Identification of Three Novel FBN1 Mutations and Their Phenotypic Relationship of Marfan Syndrome. Genetic Testing and Molecular Biomarkers, 22(8): 474-480, 2018.
Tuğ E, Güntekin Ergün S, Ergün MA, Dilek FN, Perçin EF: The relation between isolated micropenis in childhood with CAG and GGN repeat polymorphisms in the androgen receptor gene. Turkish Journal of Medical Sciences, 48 (2), 2018.
Tuğ E, Ergün MA, Perçin EF: Clinical findings in cases with 9q deletion encompassing the 9q21.11q21.32 region. The Turkish Journal of Pediatrics, 60(1): 94-98, 2018.
Bakır L, Yirmibeş Karaoğuz M, Perçin EF, Tuğ E, Cinaz P, Ergün MA: Microdeletion and mutation analysis of the SHOX gene in patients with idiopathic short stature with FISH and sequencing. Turkish Journal of Medical Sciences, 48(2):86-90, 2018.
Sezer A, Kayhan G, Zenker M, Percin EF: Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility. Eur J Med Genet. 2019 Dec;62(12):103608. doi: 10.1016/j.ejmg.2018.12.013. Epub 2018 Dec 24.
Nagy V, Hollstein R, Pai TP, Herde MK, Buphamalai P, Moeseneder P, Lenartowicz E, Kavirayani A, Korenke GC, Kozieradzki I, Nitsch R, Cicvaric A, Monje Quiroga FJ, Deardorff MA, Bedoukian EC, Li Y, Yigit G, Menche J, Perçin EF, Wollnik B, Henneberger C, Kaiser FJ, Penninger JM. HACE1 deficiency leads to structural and functional neurodevelopmental defects.Neurol Genet. 2019 Apr 29;5(3):e330. doi: 10.1212/NXG.0000000000000330. eCollection 2019 Jun.
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 Jun;63(6):548-557. doi: 10.1111/jir.12592. Epub 2019 Feb 18.
Conference Papers
MH Demirbas, P Ozbudak, A Serdaroglu, MA Ergun, EF Percin. A rare etiology of epileptic encephalopathy: HECW2 mutations. EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1435-1435, 2019
E Doger, A Sezer, S Tokgoz, AK Ugurlu, ED Akbas, EF Percin, a Bideci, O Camurdan, P Cinaz -Congenital generalized lipodystrophy type 4-New mutation in the CAVIN1 gene. HORMONE RESEARCH IN PAEDIATRICS, Vol 91, 303-304, 2019 DOI: 10.3252/pso.eu.58ESPE.201.
Copy number variation analysis in autism spectrum disorders - ESHG Milan, Italy, June 16-19, 2018, P09.023C/C
A mosaic double aneuploidy: mos 45,X/47,XX,18/46,XX with mild phenotype. ESHG Milan, Italy, June 16-19, 2018, E-P11.56- Multiple Malformation/anomalies syndromes
Dual overlapping phenotype recessively inherited due to paternal uniparental disomy of chromosome 2(pUPD2) in a patient. ESHG Milan, Italy, June 16-19, 2018, P11.091C/C
Perçin EF., Kayhan G., Ergün MA: A novel RYR 1 gene mutation in a patient with severe central core disease. European Human Genetics Conference, Cophenhagen, Denmark 25-30 Mayıs, 2017, P10.07C/C .
Ergün MA., Ünal A., Güntekin S., Perçin EF: A new method for analysis of whole exome sequencing data (SELIM) depending on variant prioritization. European Human Genetics Conference, Cophenhagen, Denmark 25-30 Mayıs, 2017, E-P16.30.
Kayhan G., Torun D., Ünal A., Ergün MA., Perçin EF: Duplication of HTR 7 gene in a patient: Is it a possible cause of autism and congenital cataract ? European Human Genetics Conference, Cophenhagen, Denmark 25-30 Mayıs, 2017, P11.034B/B
Özyavuz Çubuk P, Perçin EF, Kayhan G: Molecular karyotyping in ten patients with isolated anorectal malformation. European Human Genetics Conference, Cophenhagen, Denmark 25-30 Mayıs, 2017, P03.02B/B
Ünal A., Bahsi T., Bakır A., Perçin E.: The 3rd W522X mutation in EIF2AK3 gene from Turkey: a new patient with Wolcott-Rallison syndrome. ( P11.055 page 327). European Human Genetics Conference – ESHG 2016 May 20 – 24, Barcelona, Spain.
Dilek F.N., Perçin E.F., Kayserili H., Ergün M.A., Saka N.: A new submicroscopic duplication of the 8q24.3 region is a potential candidate for disorders of sex development. ( P03.19 page 120). European Human Genetics Conference – ESHG 2016 May 20 – 24, Barcelona, Spain.
Özyavuz Çubuk P., Ho L, Reversade B., Perçin E.F.: Additional findings in the Matthew-Wood syndrome. ( P11.096 page 340). European Human Genetics Conference – ESHG 2016 May 20 – 24, Barcelona, Spain.
Kayhan G., Ergun M.A., Percin E.F.: Identification of a heterozygous BUB1B mutation in a family with mosaic variegated aneuploidy syndrome. (P11.103 page 342). European Human Genetics Conference – ESHG 2016 May 20 – 24, Barcelona, Spain.
Güntekin Ergün S., Ergün M.A., Gümüş Akay G., Akarsu N.A., Perçin F.E.: LRP5-linked Osteoporosis-Pseudoglioma syndrome mimicking isolated microphthalmia. (P11.119 page 347). European Human Genetics Conference – ESHG 2016 May 20 – 24, Barcelona, Spain.
Kayhan G., Ergun M.A. , Liehr T., Yirmibes Karaoguz M., Percin E.F.: Primary amenorrhea, visual impairment and intellectual disability in a girl with a complex rearrangement involving 5q33.3 and 9q21.2 microdeletions. European Human Genetics Conference – ESHG 2015 June 6 – 9, 2015, Glasgow, Scotland, UK
Ozbey G., Cam Celikel F. Elbozan Cumurcu B., Kan D., Yucel B., Hasbek E., Percin F., Uluoglu C.: Evaluation of the relationships between ABCB1 C3435T and G2677T/A polymorphisms and clinical response to venlefaxine in patients with major depressive disorder. Clinical Therapeutics Vol 35 Number 8S, 2013 e63. 11th EACPT Congress 28-31 Agust 2013 Geneva Switzerland.
Ozbey G., Yucel B., Erdoğan Taycan S., Kan D., Eren Bodur N., Arslan T., Yuksel N., Percin F., Guzey I.C., Uluoglu C.: ABCB1 C3435T polymorphisms is associated with susceptibility to major depression but not clinical response to citalopram in Turkish Population. Clinical Therapeutics Vol 35 Number 8S, 2013 e63. 11th EACPT Congress 28-31 Agust 2013 Geneva Switzerland.
Yirmibes Karaoguz M., Perçin E.F , Pala E., Öztürk Kaymak A., Tug E., Asyalı Biri A.: Prenatally detected tetrasomy 18p and trisomy 21q due to i(18p) and i(21q) by using cytogenetic and molecular techniques. 9th European Cytogenetics Conference, Chromosome Research Supplement 1, Volume 21, 13.P26, 29 June-2 July 2013, Dublin-Ireland.
Tug E., Yirmibes Karaoguz M., Kayhan G., Ergun M.A., Perçin E.F : Array and cytogenetic analyses revealed partial 11q duplication and partial 12p deletion in a case with mild phenotype. 9th European Cytogenetics Conference, Chromosome Research Supplement 1, Volume 21, 1.P52, 29 June-2 July 2013, Dublin-Ireland.
Percin F.E., Tuğ E., Dilek NF, Javadiyan S., Burdon K.P.: Novel NHS gene mutation in a Turkish family with Nance-Horan syndrome. ESHG 2013, Paris Fransa June 8-11, 2013;J02.49.
Alanay Y.,Ergüner B., Utine E.G., Haçarız O., Şimşek Kiper P.Ö., Taşkıran E.Z., Perçin F.E., Uz E., Sağıroğlu M.S., Yüksel B., Boduroğlu K., Akarsu N.A.: Distruption in TMCO1 causes autosomal recessive cerebro-facio-thoracic dysplasia. ESHG 2013, Paris Fransa June 8-11, 2013; P02.038.
G.Yigit, F. Percin,Y. L, N. Bögershausen, L. Basel- Vanagaite, H. Kayserili, Y. Alanay, K.E. Brown, E. Miltz, R. Wirth, P. Prontera, A. Küchler, V. Cormier- Daire, D. Wierzorek, B. Wollnik: Increased sensitiviy to DNA demage in a recessive form of Weaver syndrome caused by functional loss of an E3 ubiquitin ligase. European Society of Human Genetics (ESHG) Conference, Nurenberg, Germany June 23-26, 2012, C03.4 (oral presentation).
Percin F., Yun L., Cavdarlı B, Wollnick B: Perrault syndrome: Evidence for genetic heterogeneity and whole-exom sequencing to identifynovel molecular mechanism. European Society of Human genetics (ESHG) Conference, Nurenberg, Germany June 23-26, 2012, P12.193.
Karaer K., Koç A., Ergün M.A., Perçin F.E. : A patient with de novo duplication of chromosome 13(q31.1qter). European Human Genetics Conference 2009. May 23-26, 2009, Viyana, Avusturya, P03.104.
Kaymak A, Koc A,Erkal O,Ergun MA, Percin EF.: A neonate with omphalocele and patent ductus arteriosus with a 46,XX,t(1;2)(q42;q32) karyotype. 6th European Cytogenetic Conference, July 7-10, İstanbul 2007 (98-P).
Ergun MA, Koc A,Kan D,Karaer K, Gucuyener K, Percin EF.:A girl with a mosaic ring chromosome 18. 6th European Cytogenetic Conference, July 7-10, İstanbul 2007 (97-P)
Karaer K,Koc A, Ergun MA, Percin EF.: Severe clinical manifestations with inv(3) (p24p13)dn in a girl. 6th European Cytogenetic Conference, July 7-10, İstanbul 2007 (76-P).
Yirmibes Karaoguz M, E. Percin EF, Pala E, Biri A, Kan D, Koc A, Korucuoglu U, Ergun MA: 46,XX karyotypes of abortion materials; due to pregnancy losses or maternal cell contamination? 6th European Cytogenetic Conference, July 7-10, İstanbul 2007 (32-P)
Ozbey G., Yucel B., Kan D., Erdogan S., Eren N., Perçin F., Yuksel N., Uluoglu C.: Gastrointestinal side effects of citalopram related with MDR1 gene G2677T polymorphism. 8th Congress of European Association for Clinical Pharmacology and Therapeutics 2007. Agust 29- September 1, Amsterdam, The Netherlands. BCPT, Vol. 101, Supp.1,p 88.
Perçin F.E., Karaer K., Karaoğuz M.Y., Ergün M.A., Özdek S., Özdemir O.: A case with Toriello- Carey syndrome. European Human Genetics Conference 2006. May 6-9, 2006, Amsterdam, The Netherlands, P0277.
S. Malik, E. F. Perçin, W. Ahmad, N.A. Akarsu, K.H. Grzeschik, M.C., Koch: A novel locus for Recessive Syndactyly maps to chromosome 17p13.3. European Human Genetics Conference 2005. May 7-10, 2005, Prague, Czech Republic, P1140.
Doruk C., Perçin F., Sökücü O., Özdemir Ö.: Is your patient’s problem just Cleft Lip and Palate? 2nd World Cleft Congress, September 15-19, 2002, Munich- Germany, Oral presentations  028.
Perçin F., Seyrantepe V., Yiğit A., Karslıoğlu S., Sarfarazi M.: Molecular analysis of a large Turkish family with autosomal recessive congenital microphthalmia and coloboma. 10th International Congress of Human Genetics. May 15-19, 2001, Vienna, Austria. Eur Hum Genet, 9(1):  P1252, 2001.
Brunner H.G., Celli J., Kayserili H., van Beusekom E., Brussel W., Skovby F., Kerr B., Balcı S., Percin E.F., Akarsu N., van Bakhoven H.: Homozygous null mutations of ROR2 tyrosinase kinase cause the autosomal recessive form of Robinow syndrome. ASHG Annual Meeting, October, 2000, Philadelphia. Am. J of Hum. Genet., 67 (4):  145, 2000.
Erdil H., Çimen M., Acemoğlu M., Erdil S., Perçin F.: Congenital anomailes of the kidneys: In the same family members. Symposium Internationale Quartum Anatomiae Clinicae, Varna, Scripta Scientifica Medica, vol XXXII, Suppl. 1, 2000.
Sarfarazi M., Stoilov I., Perçin E.F.: Cloning and genomic structure of OTX2, a candidate gene for congenital microphthalmia. ASHG Annual Meeting, October 19-23, 1999, Sanfrancisco, California. Am. J of Hum. Genet., 65 (4): A379  2142, 1999.
Horsford D.J., Ploder L., Perçin E.F., Yu, J., Duncan A., Cox D., Traboulsi E., Sarfarazi M., McInnes R.R.: The role of CHX10 in eye development: human CHX10 mutations in microphthalmia and identification of Mitf as a Chx10 downstream target. ASHG Annual Meeting, October 19-23, 1999, Sanfrancisco, California. Am. J of Hum. Genet., 65 (4): A119, 1999.
Perçin E.F., Arıcı K., Horsford D.J., Koçak-Altıntaş A., Akarsu A.N., McInnes R.R., Sarfarazi M.: A new locus for autosomal recessive congenital microphthalmia maps to 14q24.3 and caused by a homozygous mutation in the CHX10 gene. ASHG Annual Meeting, October 19-23, 1999, Sanfrancisco, California. Am. J of Hum. Genet., 65 (4): A19, 1999 (oral presentation).
Karabaş V.L., Elibol O., Topalkara A., Perçin E.F.: Lipoid proteinosis (Urbach-Wiethe Syndrome) with unusual anomalies in two sisters. XII Congress European Society of Ophthalmology, 27 June- 1 July, 1999, Stockholm, Sweden, Abstract Book, 319  SP902.
Sezgin İ., Özdemir Ö., Süngü S., Perçin F.: Two siblings of androgen insensitivity syndrome 45,XY,t(13q:14q) and one is normal 46,XY karyotypes: Three case reports. 31st Annual meeting of the European Society of Human Genetics. 29 May-1 June, 1999, Geneva, European Journal of Human Genetics, 7(1):147, 1999.
Sotirova V., Irkec M., Perçin E.F., Bladow K.M., Damji K.F., Sarfarazi M. And PEX molecular study group: Molecular Genetic Study of Families with Pseudoexfoliation Syndrome (PEX) Suggests Two Putative Locations on 2p14-2cen and 2q35-q36 Regions. ARVO Annual meeting, May 9-14, 1999, Florida. IVOS, 40 (4): 2704-B579, 1999.
Perçin E.F., Koçak A., Arıcı K., Desai T., Akarsu A.N., Sarfarazi M.: Mapping of Autosomal Recessive Congenital Microphthalmia and Exclusion of Linkage to 14q32. ARVO Annual meeting, May 9-14, 1999, Florida. IVOS, 40 (4): 3160-B18, 1999.
Perçin F., Desai T., Koçak A.,Arıcı K., Koçak İ., Akarsu A. N., Sarfarazi M.: Phenotypic Spectrum of Autosomal Recessive Congenital Microphthalmia (AR-CMIC) and Evidence for Genetic Heterogeneity. ASHG Annual Meeting, October 27-31, 1998, Denver, Colorado. Am. J of Hum. Genet., 63(4): A117, 1998.
Perçin E.F., Perçin S., Eğilmez H., Sezgin İ., Özbaş F., Akarsu A.N.: Mesoaxial Complete Syndactyly and Synostosis with Hypoplastic Thumbs: Homozygous Feature of Syndactyly Type I  ASHG Annual Meeting , October 28- November 1, 1997, Baltimore, Maryland. Am. J of Hum. Genet., 61(4): A109, 1997.
Özdemir Ö., Perçin E.F., Sezgin İ., Süngü S., Çolak A.: Short Stature and Other Clinical Findings of a Case with Karyotype 46,XY del(Y )(q11.2-12)+mar. 1st European Cytogenetics Conference. June 22-25, 1997, Athens, Greece, Cytogenet. Cell Genet., 77: 118, 1997.
Perçin F.,Perçin S.: A Case with Humeroradial Synostosis. III. Congress of the European Federation of National Associations of Orthopaedics and Traumatology. Barselona, April 24-27, 1997, Barcelona, p.0123.
Sezgin İ., Süngü S., Özdemir Ö., Perçin F.: Smith- Lemli-Opitz Syndrome with Cavernose Hemangiom. 2nd Balkan Meeting on Human Genetics, 3-6 September 1996, İstanbul, Özet Kitabı, s.e 20
Perçin E.F., Düzcan F., Kafalı G., Sezgin İ.: A New Syndrome with Cardiac Malformation, Cleft lip-palate, Microcephaly and Digital Anomalies. 2nd Balkan Meeting on Human Genetics, 3-6 September 1996, İstanbul, Özet Kitabı, s.e12.
Perçin E.F., Bulut S., Kunt T., Bulut O., Perçin S., Süngü S.: Waardenburg Syndrome Type I and Nail Patella Syndrome in Same Case. 20th World Congress SICOT 96 Amsterdam, 18-23 August 1996, p.126.
Honors and Awards
Best Poster Presentation award in National Congress on ERCİYES ÜNİVERSİTESİ, 2019
2nd Best Poster Presentation award in National Congress on ERCİYES ÜNİVERSİTESİ, 2019
3rd Best Oral Presentation award in National Congress on ERCİYES ÜNİVERSİTESİ, 2019
Best Poster Presentation award in National Congress on ERCİYES ÜNİVERSİTESİ, 2018
3rd Best Oral Presentation award in National Congress on ERCİYES ÜNİVERSİTESİ, 2017
2nd Best Oral Presentation award in National Congress on ERCİYES ÜNİVERSİTESİ, 2016
2nd Best Oral Presentation award in National Congress on ERCİYES ÜNİVERSİTESİ, 2016
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