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• Prof. Dr. Osman Koray Boduroğlu
• Prof. Dr. Gülen Eda Ütine
• Doç. Dr. Pelin Özlem Şimşek Kiper
• Öğr.Gör. Dr. Yaman Muşdal
• Uzm. Dr. Özlem Akgün Doğan
• Uzm. Dr. Gizem Ürel Demir
• Uzm. Dr. Süleyman Atar
• Uzm. Dr. Akçahan Akalın
• Uzm. Dr. Abdülkerim Kolkıran
• Uzm.Dr. Tuğba Daşar
• Uzm.Dr. Merve Güvenoğlu
• Dr. Gülcan Yılbaş
• Dr. Dorukcan Alkan
• Sınıflandırılamayan Siliyopatilerden Etkilenmiş Hastalarda Tüm Ekzom Dizileme Yöntemiyle Moleküler Etiyolojinin Belirlenmesi
• “İkiz Otistik Olgularda Genetik Farklılıklar” Hacettepe Üniversitesi Bilimsel Araştırmalar Birimi Kapsamli Proje, Proje ID 16927, TSA-2018-
• Konjenital Kemik İliği Yetmezliği Sendromlarında Genetik Etiyolojinin Araştırılması ve Translasyon Tayini (RiboEurope), TÜBİTAK Proje No: 319S062, (2020-).
• Prenatal Dönemde Saptanan Konjenital Kalp Anomalilerinde Genetik Etiyoloji
• ADAM19, FAM13A, IREB2 genleri yaygın varyantların KOAH yatkınlığı ve şiddeti ile ilişkisi
• Down Sendromlu Hastaların Klinik ve Laboratuvar Bulgularının Değerlendirilmesi: 20 Yıllık Tecrübe
• Prader Willi Sendromu Hastalarında Plazma Ghrelin Oksitosin ve Beyin Kökenli Nörotrofik Faktör Seviyelerinin Belirlenmesi (Proje No: 13114)
• Hacettepe Ekzom Projesi (TAY-2015-7335)
• İskelet Displazilerinde Genetik Etiyolojinin Belirlenmesi (TSA-2017-14392)
• Avrupa Diamond-Blackfan Anemi Konsorsiyumu (EuroDBA), Uluslararası E-Rare Projesi (Proje No: 315S192)
• Turner Sendromu Olan Ergenlerin Nöropsikometrik ve Psikososyal Açıdan Değerlendirilmesi
• Bilinen Metabolik Hastalıklar ve Sendromlar ile İlişkilendirilemeyen Konjenital/Gelişimsel Kataraktlarda Yeni Nesil Dizileme ile Moleküler Etiyolojinin Araştırılması.
• Prenatal veya Postnatal Dönemde Saptanan Orofasiyal Yarıklanma Defektlerinde Tanısal Dağılım ve Genetik Etiyoloji.
• Mikrosefali Etiyolojisi: 5 Yıllık Deneyim.
• Prenatal Dönemde Ekstremite Kısalığı Saptanan Fetüslerin Tanısal Dağılımı ve Postnatal Değerlendirilmesi.
• “İntrauterin ve Postnatal Ciddi Boy Kısalığında IGF1R Gen Defektlerinin Araştırılması” Hacettepe Üniversitesi Bilimsel Araştırmalar Birimi Hızlı Destek Projesi, Proje ID 13561, THD-2017-2019.
• 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 Centre Experience. J Human Genet, 2020
• Xue J, Simsek-Kiper PO, Yan L, Wang Z, Karaosmanoglu B, İmren G, Taskiran EZ, Göçmen R, Nishimura G, Matsumoto N, Miyake N, Ikegawa S, Guo L. Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis.
• Simsek Kiper PO, Oguz S, Ergen F, 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; (doi: 10.1055/s-0040-1714125).
• 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 Feb;11(1):38-42. doi: 10.1159/000505141. Epub 2020 Jan 14.
• Buers I, Persico I, Schöning L, Nitschke Y, Di Rocco M, Loi A, Sahi PK, Utine GE, Bayraktar-Tanyeri B, Zampino G, Crisponi G, Rutsch F, Crisponi L. Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts. Clin Genet. 2020 Jan;97(1):209-221.
• Guleray N, Kosukcu C, Taskiran ZE, Simsek Kiper PO, Utine GE, Gucer S, Tokatli A, Boduroglu K, Alikasifoglu M.Guleray N, et al. Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing. Fetal Pediatr Pathol. 2020 Apr;39(2):163-171. doi: 10.1080/15513815.2019.1639089. Epub 2019 Jul 15.Fetal Pediatr Pathol. 2020.
• Demir GÜ, Lafcı NG, Doğan ÖA, Şimşek-Kiper PÖ, Utine GE.Demir GÜ, et al. Peters Plus syndrome: a recognizable clinical entity. Turk J Pediatr. 2020;62(1):136-140. doi: 10.24953/turkjped.2020.01.020.
• Brinkmann J, Lissewski C, Pinna V, et al. The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered. Eur J Hum Genet. 2020 Oct 20. doi: 10.1038/s41431-020-00743-3. Online ahead of print.Eur J Hum Genet. 2020.
• Vuralli D, Kosukcu C, Taskiran E, Simsek-Kiper PO, Utine GE, et al. Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia. Mol Syndromol. 2020 Nov;11(4):207-216. doi: 10.1159/000510171. Epub 2020 Sep 16.Mol Syndromol. 2020. PMID: 33224014
• Akdogan N, Kindis E, Bostan E, Utine E, Alikasifoglu M, Ersoy-Evans S.Akdogan N, et al. Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis. J Clin Immunol. 2020 Aug;40(6):934-939. doi: 10.1007/s10875-020-00815-5. Epub 2020 Jul 4.J Clin Immunol. 2020. PMID: 32620997.
• Isik E, Arican D, Atik T, Ooi JE, Darcan S, Ozen S, Simsek Kiper PO, Utine E, Cogulu O, Ozkinay F.Isik E, et al. A rare cause of syndromic short stature: 3M syndrome in three families. Am J Med Genet A. 2020 Nov 30. doi: 10.1002/ajmg.a.61989. Online ahead of print.Am J Med Genet A. 2020. PMID: 33258289.
• Ayyildiz DE, Isik E, Utine GE, Simsek-Kiper PO, Atik T, Ozkinay F. Clinical and Molecular Spectrum of Four Patients Diagnosed with Mowat-Wilson Syndrome. Molecular Syndromology, 2020, DOI: 10.1159/000511609.
• Dhooge T, Damme TV, Syx D, Mosquera LM, Nampoothiri S, Radhakrishnan A, Simsek-Kiper P, Utine GE, Bonduelle M, Migeotte I, Essawi O, Ceylaner S, Alkindi A, Tinkle B, Symoens S, and Malfait F. More than meets the eye: expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome. 2020, doi: 10.22541/au.160521847.70334534/v1.
• 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 Feb;34(2):e76-e77. doi: 10.1111/jdv.15968. Epub 2019 Oct 24.
• Ürel-Demir G, Ertuğrul İ, Şimşek-Kiper PÖ, Utine GE, Alehan D, Alikaşifoğlu M, Boduroğlu K. Down Sendromu’nda Ortalama Anne Yaşı ve Doğumsal Kalp Hastalıklarının Sıklığı. Çocuk Sağlığı ve Hastalıkları Dergisi, 2020, (Basım Aşamasında).
• Ürel Demir G, Güleray Lafcı N, Akgün Doğan Ö, Şimşek Kiper PÖ, Utine GE. Peters Plus syndrome: a recognizable clinical entity. Turk J Pediatr. 2020;62(1):136-140. doi: 10.24953/turkjped.2020.01.020.
• Gonc EN, Ozon Z A, Oguz S, Kabacam S, Taskiran E Z, Kiper POS, Utine G E, Alikasifoglu A, Kandemir N, Boduroglu O K, Alikasifoglu M. Genetic IGF1R Defects: New Cases Expand the Spectrum of Clinical Features. J Endocrinol Invest. 2020 Apr 30. doi: 10.1007/s40618-020-01264-y. Online ahead of print.PMID: 32356191.
• Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BHY, Mak CCY, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung KCP, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA.Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.Am J Hum Genet. 2020 Aug 6;107(2):374. doi: 10.1016/j.ajhg.2020.07.013.
• 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 Aug 1. doi: 10.1111/pedi.13098. Online ahead of print.
• 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 Mar;37(2):358-361. doi: 10.1111/pde.14087. Epub 2020 Jan 21.
• Kolkıran A, Büşra Aydın, Süleyman Atar, Gizem Ürel Demir, Özlem Akgün Doğan, Ekim Taşkıran, Özlem Pelin Kiper, Eda Utine, Mehmet Alikaşifoğlu, Koray Boduroğlu. Cockayne sendromu tanısı konan bir hastada klasik ve prenatal tiplerin örtüşen kliniği. Çocuk Sağlığı ve Hastalıkları Dergisi 2019.
• Akalın A, Kiper ÖP; Utine GE. Akondroplazili süt çocuğunda solunum sıkıntısı. Çocuk Sağlığı ve Hastalıkları Dergisi 2019
• 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.
• 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 Jun;62(6):103535.
• 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.
• Atar S, Ürel-Demir G, Şimşek-Kiper PÖ, Utine GE, Boduroğlu OK. Akondroplazide baba yaşı: İleri baba yaşı kaçtır? Çocuk Sağlığı ve Hastalıkları Dergisi 2019; 62: 7-9.
• Baban A, Bayat A, Beck-Wödl S, et al. Correction: The ARID1B spectrum in 143 patients:from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet Med.2019 Sep;21(9):2160-2161.
• 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. 2019 Jul 15:1-9.
• Guleray N, Simsek Kiper PO, Utine GE, Boduroglu K, Alikasifoglu M. Intrafamilial variability of XYLT2-related spondyloocular syndrome. Eur J Med Genet. 2019 Nov;62(11):103585.
• Guo L, Bertola DR, Takanohashi A, Saito A, Segawa Y, Yokota T, Ishibashi S, Nishida Y, Yamamoto GL, Franco JFDS, Honjo RS, Kim CA, Musso CM, Timmons M, Pizzino A, Taft RJ, Lajoie B, Knight MA, Fischbeck KH, Singleton AB, Ferreira CR, Wang Z, Yan L, Garbern JY, Simsek-Kiper PO, Ohashi H, Robey PG, Boyde A, Matsumoto N, Miyake N, Spranger J, Schiffmann R, Vanderver A, Nishimura G, Passos-Bueno MRDS, Simons C, Ishikawa K, Ikegawa S. Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation. Am J Hum Genet. 2019 May 2;104(5):925-935. doi: 10.1016/j.ajhg.2019.03.004. Epub 2019 Apr 11.
• 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 Aug;62(8): 103687.
• 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. 2019Jan;62(1):21-26.
• 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. 2019Jul;179(7):1157-1172.
• 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 Jan;39(1):99-105.
• 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. 2019 Sep 30.
• Ürel-Demir G, Taşkıran EZ, Akgün-Doğan Ö, Şimşek-Kiper PÖ, Utine GE. Ophthalmo-acromelic syndrome in an infant. Eur J Med Genet. 2019Jul;62(7):103664.
• van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet Med 2019; 21(6): 1295-1307. doi: 10.1038/s41436-018-0330-z. Epub 2018 Nov 8.
• İnan-Erdoğan I, Akgül S, Işgın-Atıcı K, Tuğrul-Yücel T, Boduroğlu K, Derman O, Kanbur N. Effects of vitamin D and estrogen receptor polymorphisms on bone mineral density in adolescents with anorexia nervosa. J Pediatr Endocrinol Metab. 2019 Dec 18;32(12):1377-1384. doi: 10.1515/jpem-2019-0240.
• Özmert EN, Derman O, Bideci A, Okumuş N, Boduroğlu K, Bakkaloğlu S, Hasanoğlu E, Alden E. Syrian Children in Turkey: A Model of Action for National Pediatric Societies. Pediatrics. 2019 Feb;143(2):e20180539. doi: 10.1542/peds.2018-0539. Epub 2019 Jan 15.
• 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.
• 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 Jan;39(1):99-105. doi: 10.1007/s10875-018-0587-7. Epub 2019 Jan 8.
• Ürel-Demir G, Simsek-Kiper PO, Akgün-Doğan Ö, Göçmen R, Wang Z, Matsumoto N, Miyake N, Utine GE, Nishimura G, Ikegawa S, Boduroglu K. Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification. J Hum Genet 2018; 63(9): 1003-1007. doi: 10.1038/s10038-018-0473-4. Epub 2018 Jun 8.
• Akgün-Doğan Ö, Şimsek-Kiper PÖ, Utine GE, Boduroğlu K. Anauxetic dysplasia: A rare clinical entity. Turk J Pediatr. 2018;60(1):89-93. doi: 10.24953/turkjped.2018.01.014.
• 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 Feb;187:92-94. doi: 10.1016/j.clim.2017.10.010. Epub 2017 Nov 7.
• 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. doi: 10.24953/turkjped.2018.01.001.
• Bilgin N, Parlak S, Şimşek-Kiper PÖ, Topcu M, Topaloglu H. Mstery Case: Pontine tegmental cap dysplasia in a neonate. Neurology. 2018 Nov 27;91(22):e2100-e2101.
• Gonc EN, Ozon A, Buyukyilmaz G, Alikasifoglu A, Simsek OP, Kandemir N. Acquired resistance to pamidronate treated effectively with zoledronate in juvenile Paget's disease. Osteoporos Int. 2018 Jun;29(6):1471-1474. doi: 10.1007/s00198-018-4443-7. Epub 2018 Mar 3.
• Michot C, Le Goff C, Blair E, Blanchet P, Capri Y, Gilbert-Dussardier B, Goldenberg A, Henderson A, Isidor B, Kayserili H, Kinning E, Le Merrer M, Lyonnet S, Odent S, Simsek-Kiper PO, Quelin C, Savarirayan R, Simon M, Splitt M, Verhagen JMA, Verloes A, Munnich A, Baujat G, Cormier-Daire V. Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia. Eur J Hum Genet. 2018 Nov;26(11):1611-1622. doi: 10.1038/s41431-018-0135-1. Epub 2018 Jul 13
• 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 Sep;176(9):2009-2016. doi: 10.1002/ajmg.a.40427. Epub 2018 Jul 31.
• Kaykı G, Güçer Ş, Akçören Z, Orhan D, Talim B, Yurdakök M, Yiğit Ş, Boduroğlu OK, Utine GE, Örgül G, Beksaç MS.Non-immune hydrops fetalis: A retrospective analysis of 151 autopsies performed at a single center.Turk J Pediatr. 2018;60(5):471-477. doi: 10.24953/turkjped.2018.05.001.
• 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 Nov;26(11):1563-1565. doi: 10.1038/s41431-018-0240-1. Epub 2018 Sep 11.
• 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. doi: 10.24953/turkjped.2018.05.006. PMID: 30968633.
• 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 Feb;221:76-80. doi: 10.1016/j.ejogrb.2017.12.028. Epub 2017 Dec 16.
• 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. 2017 Nov 7. doi: 10.1055/s-0037-1608632.
• 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 Mar;38(2):102-105. doi: 10.4082/kjfm.2017.38.2.102.
• Utine GE, Alanay Y, Aktaş D, Boduroğlu K, Alikaşifoğlu M, Tunçbilek E. Gorlin syndrome in 11 patients. J Pediatr Res 2017;4(2):63-7. DOI: 10.4274/jpr.09326.
• Hızarcıoğlu-Gülşen H, Kılıç E, Dominguez-Garrido E, Aydemir Y, Utine GE, Saltık-Temizel İN. Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome. Turk J Pediatr. 2017;59(1):80-83.
• Koehler K, Milev MP, Prematilake K, Reschke F, Kutzner S, Jühlen R, Landgraf D, Utine E, Hazan F, Diniz G, Schuelke M, Huebner A, Sacher M. A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima. J Med Genet. 2017 Mar;54(3):176-185. doi: 10.1136/jmedgenet-2016-104108.
• 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 Dec;173(12):3143-3152. doi: 10.1002/ajmg.a.38495.
• 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. 2017May;60(5):279-283. doi: 10.1016/j.ejmg.2017.03.007.
• 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 Dec 8:1-7. doi: 10.1080/15513815.2017.1379039.
• Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert G, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzee Ml, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BHY, Mak CCY, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung PKC, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA. Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. Am J Hum Genet. 2017 Feb 2;100(2):216-227.
• Simsek Kiper PO, Saito H, Gori F, Unger S, Hesse E, Yamana K, Kiviranta R, Solban N, Liu J, Brommage R, Boduroglu K, Bonafé L, Campos-Xavier B, Dikoglu E, Eastell R, Gossiel F, Harshman K, Nishimura G, Girisha KM, Stevenson B, Takita H, Rivolta C, Superti-Furga A, Baron R. Cortical Bone Fragility–Insights from sFRP4 Deficiency in Pyle Disease. N Engl J Med 2016; 374(26): 2553-2562. doi: 10.1056/NEJMoa1509342.
• Van Damme T, Colige A, Syx D, Giunta C, Lindert U, Rohrbach M, Aryani O, Alanay Y, Simsek-Kiper PÖ, Kroes HY, Devriendt K, Thiry M, Symoens S, De Paepe A, Malfait F. Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type. Genet Med 2016; 18(9): 882-91. doi: 10.1038/gim.2015.188. Epub 2016 Jan 14.
• Bilginer Y, Düzova A, Topaloğlu R, Batu ED, Boduroğlu K, Güçer Ş, Bodur I, Alanay Y.Three cases of spondyloenchondrodysplasia (SPENCD) with systemic lupus erythematosus: a case series and review of the literature. Lupus. 2016 Jun;25(7):760-5. doi: 10.1177/0961203316629000. Epub 2016 Feb 6.
• Bekircan-Kurt CE, Şimşek-Kiper PÖ, Boduroğlu K, Dericioğlu N. A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures. Turk J Pediatr. 2016;58(1):97-100. doi: 10.24953/turkjped.2016.01.015.
• Angius A, Uva P, Buers I, Oppo M, Puddu A, Onano S, Persico I, Loi A, Marcia L, Höhne W, Cuccuru G, Fotia G, Deiana M, Marongiu M, Atalay HT, Inan S, El Assy O, Smit LM, Okur I, Boduroglu K, Utine GE, Kılıç E, Zampino G, Crisponi G, Crisponi L, Rutsch F. Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. Am J Hum Genet. 2016 Jul 7;99(1):236-45. doi: 10.1016/j.ajhg.2016.05.026.
• Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Le Quan Sang KH, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Di Donato N, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B.Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.Hum Mutat. 2016 Sep;37(9):847-64. doi: 10.1002/humu.23026. Epub 2016 Jul 7.
• Taylan Şekeroğlu H, Utine GE, Alikaşifoğlu M.A Baseline Algorithm for Molecular Diagnosis of Genetic Eye Diseases: Ophthalmologist's Perspective.Turk J Ophthalmol. 2016 Dec;46(6):299-300. doi: 10.4274/tjo.59375. Epub 2016 Dec 1.
• Kaymak S, Kuloğlu Z, Çobanoğlu N, Utine GE, Kansu A. Congenital multisegmental lymphatic dysplasia with systemic involvement: a case report.Clin Dysmorphol. 2016 Oct;25(4):174-7. doi: 10.1097/MCD.0000000000000123.
• Kilic E, Cetinkaya A, Utine GE, Boduroğlu K.A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome.J Child Neurol. 2016 Jun;31(7):913-7. doi: 10.1177/0883073815627884. Epub 2016 Jan 25.
• 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; 125(9): 3585-99. doi: 10.1172/JCI80102. Epub 2015 Aug 17.
• Kilic E, Yigit G, Utine GE, Wollnik B, Mihci E, Nur BG, Boduroglu K.A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I.Am J Med Genet A. 2015 Apr;167A(4):919-21. doi: 10.1002/ajmg.a.36955. Epub 2015 Mar 3
• Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destrée A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF; DDD study, Smith J, Clayton-Smith J. Further delineation of the KAT6B molecular and phenotypic spectrum. Eur J Hum Genet. 2015 Sep;23(9):1165-70. doi: 10.1038/ejhg.2014.248
• Bramswig NC, Lüdecke HJ, Alanay Y, Albrecht B, Barthelmie A, Boduroglu K, Braunholz D, Caliebe A, Chrzanowska KH, Czeschik JC, Endele S, Graf E, Guillén-Navarro E, Kiper PÖ, López-González V, Parenti I, Pozojevic J, Utine GE, Wieland T, Kaiser FJ, Wollnik B, Strom TM, Wieczorek D. Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes. Hum Genet. 2015 Jun;134(6):553-68. doi: 10.1007/s00439-015-1535-8.
• Kurt-Sukur ED, Simsek-Kiper PO, Utine GE, Boduroglu K, Alanay Y. Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis. Am J Med Genet A. 2015 Sep;167A(9):2065-74. doi: 10.1002/ajmg.a.37122. Epub 2015 Apr 30.