CURRICULUM VITAE. Prof. Hülya Kayserili Karabey, MD, PhD. Koc University, School of Medicine, Medical Genetics Department

CURRICULUM VITAE Prof. Hülya Kayserili Karabey, MD, PhD Koc University, School of Medicine, Medical Genetics Department WORK ADRESS Koc Universitesi Hastanesi, Tıbbi Genetik Bölümü Davutpasa Cad. 34010 Topkapı İstanbul - Türkiye Phone +90 850 250 8 250--- 29708 Fax +90 212 311 3350 HOME ADRESS Garanti Koza Evleri, Vişne 1 Mah. Gülibrişim Sok. No:15 34450, Zekeriyaköy, Sarıyer, Istanbul Phone +90 212 20292 07-8 Mobile +90 532 2641212 e-mail hkayserili@kuh.ku.edu.tr; hkayserili@ku.edu.tr DATE of BIRTH Citizenship Marital status 23.02.1960 / İstanbul, Turkey Republic of Turkey Married Curriculum vitae of Hülya Kayserili 1

EDUCATION 1991-1998 PhD on Medical Genetics, Institute of Child Health, Institute of Health Sciences, Istanbul University, Turkey 1988-1991 Family Medicine Specialisation, Şişli Etfal Hospital, Istanbul 1984-1989 Faculty of Letters, Classical Archeology Division, Istanbul University, Turkey 1978-1984 İstanbul Medical School, Istanbul University, Turkey 1971-1978 Üsküdar American Academy for Girls [AAG, ÜAKL] ACADEMIC & PROFESSIONAL EXPERIENCE 12.2009-ongoing 03.2004-12.2009 05. 1992-03.2004 11.1987-05.1992 02.1987-11.1987 1984-1987 Prof. Lecturer; Clinical Genetics & Pediatric Genetics Division, Medical Genetics Department, Lecturer at Institute of Health Sciences, Istanbul University, Turkey Assoc. Prof. Lecturer; Chief of Clinical Genetics Division, Medical Genetics Department, Istanbul University, Turkey Specialist, PhD student, post doc; Prenatal Diagnosis and Research Center & Institute of Child Health, Division of Medical Genetics, Istanbul University Short term visiting fellow, September 1993, Cedar Sinai Hospital, Genetics Department, UCLA, Los Angeles, USA Short term visiting fellow, September-October 2000, Medical Genetics & Pediatric Genetics Department, Academic Medisch Centrum, Amsterdam, the Netherlands Short term laboratory research fellow, February 2007, Genetics Research Laboratory, Free University, Amsterdam, the Netherlands Resident of Family Medicine, Şişli Etfal Training and Research Hospital & Bakırköy Mental Health and Psychiatry Hospital, Istanbul, Turkey Medical Doctor; Beşiktaş Municipality Health Center, Istanbul, Turkey Medical Doctor; IV. Health Center, and Turkish Red Crescent Blood Bank, Denizli, Turkey SKILLS AND COMPETENCES LANGUAGES Turkish, native language English, fluent oral and written skills French, intermediate oral and written skills Curriculum vitae of Hülya Kayserili 2

CLINICAL & RESEARCH INTERESTS Clinical and molecular syndromology; dysmorphology; developmental genetics Genetics of mental retardation & autism Prenatal genetics & fetal pathology Clinical research & research on novel treatment modalities PROFESSIONAL SOCIETY MEMBERSHIPS Türk Tıbbi Genetik Derneği European Society of Human Genetics [ESHG] International Skeletal Dysplasia Society [ISDS] American Society of Human Genetics [ASHG] PROFESSIONAL DUTIES National Specialisation Council for Medical Genetics [TUK; 2009-ongoing, third term] Public and Professional Policy Committee [ESHG subcommittee, 2011-4, elected for the second term 2014-7] Medical Education Board, Istanbul Medical Faculty [for graduate studies on medical genetics, 2005-ongoing] General Secretary of Turkish Medical Genetics Society [2007-9] UEMS Delegate for Medical Genetics [2008-14] ORGANIZATIONAL WORK Istanbul Dysmorphology Days /with international participation & CRANIRARE educational contribution Dec 1-2, 2000 33 Reform Anfisi, İstanbul Medical Faculty April 12-13 2002 33 Reform Anfisi, İstanbul Medical Faculty April 15-16 2005 33 Reform Anfisi, İstanbul Medical Faculty April 24-25, 2009 Nippon Hotel, Taksim April 29-30, 2011 Nippon Hotel, Taksim May 3-4, 2013 SALT Galata, Beyoğlu European Spinocerebellar Ataxia Workshop [EUROSCA]. İstanbul Uni. Rektörlük Toplantı Salonu, 27 May 2006 VIII. National Medical Genetics Congress /w international contribution. 06-09 May 2008, Kolin Otel, Çanakkale V. National Medical Genetics Symposium: genetics of endocrinological diseases. 08-10 Oct 2009, Abant, Bolu Istanbul Clinical Genetics Club Meetings [1 st, 13 Nov 2012; 2 nd, 11 Jan 2013; 3 rd, 30 May 2013; 4 th, 25 Oct 2013; 5 th, 26 Nov 2013; 6 th, 21 Feb 2014; 7 th, Nov 28 2014; 8 th, Jan 23 2015] ESHG-PPPC Workshop, 12-13 February, 2015 Armada Hotel, İstanbul Curriculum vitae of Hülya Kayserili 3

PUBLICATION INFORMATION [as of February 2015] Publications in international peer reviewed journals - SCI, SCI-expanded Publications in international peer reviewed journals - non SCI & non SCI-expanded 159 11 Publications in national peer-reviewed journals 29 Presentations in international & national congresses [invited lectures/ oral presentations; posters at international congresses; conferences & oral/ poster presentations at national congresses ] 275[37; 104; 134] Books & Book Chapters 9 Citations [as of February 2015] 3766 ( 2743+ 23) H-index 31 ( 30+1) PUBLICATIONS IN INTERNATIONAL PEER-REVIEWED JOURNALS [SCI & SCI-E] 1. Tomas-Roca L, Tsaalbi-Shtylik A, Jansen JG, Singh MK, Epstein JA, Altunoglu U, Verzijl H, Soria L, van Beusekom E, Roscioli T, Iqbal Z, Gilissen C, Hoischen A, de Brouwer AP, Erasmus C, Schubert D, Brunner H, Pérez Aytés A, Marin F, Aroca P, Kayserili H, Carta A, de Wind N, Padberg GW, van Bokhoven H. De novo mutations in PLXND1 and REV3L cause Möbius syndrome. Nat Commun. 2015 Jun 12;6:7199. doi: 10.1038/ncomms8199 2. Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB; UK10K. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun. 2015 Jun 5;6:7074. doi: 10.1038/ncomms8074. 3. Uyguner ZO, Toksoy G, Altunoglu U, Ozgur H, Basaran S, Kayserili H. A new hereditary congenital facial palsy case supports arg5 in HOX-DNA binding domain as possible hot spot for mutations. Eur J Med Genet. 2015 Jun-Jul;58(6-7):358-63. doi: 10.1016/j.ejmg.2015.05.003. Epub 2015 May 23. 4. Lupiáñez DG, Kraft K, Heinrich V, Krawitz P, Brancati F, Klopocki E, Horn D, Kayserili H, Opitz JM, Laxova R, Santos-Simarro F, Gilbert-Dussardier B, Wittler L, Borschiwer M, Haas SA, Osterwalder M, Franke M, Timmermann B, Hecht J, Spielmann M, Visel A, Mundlos S. Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions. Cell. 2015 May 6. pii: S0092-8674(15)00377-3. doi: 10.1016/j.cell.2015.04.004. [Epub ahead of print] Curriculum vitae of Hülya Kayserili 4

5. Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, Gordts PL, Esko JD, Buschman MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagıroglu MS, Azam M, Ismail S, Aglan M, Selim L, Mahmoud IG, Abdel-Hadi S, Badawy AE, Sadek AA, Mojahedi F, Kayserili H, Masri A, Bastaki L, Temtamy S, Müller U, Desguerre I, Casanova JL, Dursun A, Gunel M, Gabriel SB, de Lonlay P, Gleeson JG. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.nat Genet. 2015 May;47(5):528-34. doi: 10.1038/ng.3256. Epub 2015 Apr 6. 6. Yagi H, Takagi M, Hasegawa Y, Kayserili H, Nishimura G. Sclerosteosis (craniotubular hyperostosis-syndactyly) with complex hyperphalangy of the index finger. Pediatr Radiol. 2015 Apr 3. [Epub ahead of print] 7. Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, Wakeling E, Ørstavik KH, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S, Wuyts W, Southgate L, Zenker M. DOCK6 Mutations are Responsible for a Distinct Autosomal Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. Hum Mutat. 2015 Mar 30. doi: 10.1002/humu.22795. 8. White J, Mazzeu JF, Hoischen A, Jhangiani SN, Gambin T, Alcino MC, Penney S, Saraiva JM, Hove H, Skovby F, Kayserili H, Estrella E, Vulto-van Silfhout AT, Steehouwer M, Muzny DM, Sutton VR, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Brunner HG, van Bon BW, Carvalho CM. DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome. Am J Hum Genet. 2015 Apr 2;96(4):612-22. doi: 10.1016/j.ajhg.2015.02.015. Epub 2015 Mar 26. 9. Bland PJ, Chronnell C, Plagnol V, Kayserili H, Kelsell DP. A severe collodion phenotype in newborn period associated with a homozygous missense mutation in ALOX12B. Br J Dermatol. 2014 Dec 18. doi: 10.1111/bjd.13627. [Epub ahead of print] 10. Mishra-Gorur K, Çağlayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümüş GT, Nishimura S, Han W, Tu S, Baran B, Gümüş H, Dilber C, Zaki MS, Hossni HA, Rivière JB, Kayserili H, Spencer EG, Rosti RÖ, Schroth J, Per H, Çağlar C, Çağlar Ç, Dölen D, Baranoski JF, Kumandaş S, Minja FJ, Erson-Omay EZ, Mane SM, Lifton RP, Xu T, Keshishian H, Dobyns WB, Chi NC, Šestan N, Louvi A, Bilgüvar K, Yasuno K, Gleeson JG, Günel M. Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors. Neuron. 2014 Dec 17;84(6):1226-39. doi: 10.1016/j.neuron.2014.12.014. 11. Severin F, Borry P, Cornel MC, Daniels N, Fellmann F, Victoria Hodgson S, Howard HC, John J, Kääriäinen H, Kayserili H, Kent A, Koerber F, Kristoffersson U, Kroese M, Lewis C, Marckmann G, Meyer P, Pfeufer A, Schmidtke J, Skirton H, Tranebjærg L, Rogowski WH. Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness. Eur J Hum Genet. 2014 Sep 24. doi: 10.1038/ejhg.2014.190. [Epub ahead of print] 12. Campeau PM, Hennekam RC; DOORS syndrome collaborative group. DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):327-32. doi: 10.1002/ajmg.c.31412. Epub 2014 Aug 28. 13. Acuna-Hidalgo R, Schanze D, Kariminejad A, Nordgren A, Kariminejad MH, Conner P, Grigelioniene G, Nilsson D, Nordenskjöld M, Wedell A, Freyer C, Wredenberg A, Wieczorek D, Gillessen-Kaesbach G, Kayserili H, Elcioglu N, Ghaderi-Sohi S, Goodarzi P, Setayesh H, van de Vorst M, Steehouwer M, Pfundt R, Krabichler B, Curry C, MacKenzie MG, Boycott KM, Gilissen C, Janecke AR, Hoischen A, Zenker M. Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. Am J Hum Genet. 2014 Sep 4;95(3):285-93. doi: 10.1016/j.ajhg.2014.07.012. Epub 2014 Aug 21. 14. Ansari M, Poke G, Ferry Q, Williamson K, Aldridge R, Meynert AM, Bengani H, Chan CY, Kayserili H, Avci S, Hennekam RC, Lampe AK, Redeker E, Homfray T, Ross A, Falkenberg Smeland M, Mansour S, Parker MJ, Cook JA, Splitt M, Fisher RB, Fryer A, Magee AC, Wilkie A, Barnicoat A, Brady AF, Cooper NS, Mercer C, Deshpande C, Bennett CP, Pilz DT, Ruddy D, Cilliers D, Johnson DS, Josifova D, Rosser E, Thompson EM, Wakeling E, Kinning E, Stewart F, Flinter F, Girisha KM, Cox H, Firth HV, Kingston H, Wee JS, Hurst JA, Clayton-Smith J, Tolmie J, Vogt J, Tatton-Brown K, Chandler K, Prescott K, Wilson L, Behnam M, McEntagart M, Davidson R, Curriculum vitae of Hülya Kayserili 5

Lynch SA, Sisodiya S, Mehta SG, McKee SA, Mohammed S, Holden S, Park SM, Holder SE, Harrison V, McConnell V, Lam WK, Green AJ, Donnai D, Bitner-Glindzicz M, Donnelly DE, Nellåker C, Taylor MS, FitzPatrick DR. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. J Med Genet. 2014 Oct;51(10):659-68. doi: 10.1136/jmedgenet-2014-102573. Epub 2014 Aug 14. 15. Li B, Krakow D, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics, Chang Y, Lachman RS, Yilmaz A, Kayserili H, Cohn DH. Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1. Am J Med Genet A. 2014 Sep;164A(9):2407-11. doi: 10.1002/ajmg.a.36640. Epub 2014 Jun 20. No abstract available. 16. Imagawa E, Kayserili H, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H, Ikegawa S, Matsumoto N, Miyake. Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation. Am J Med Genet A. 2014 Jun 16. doi: 10.1002/ajmg.a.36648. Epub 2014 Jun 16. [Epub ahead of print] 17. N.Failler M, Gee HY, Krug P, Joo K, Halbritter J, Belkacem L, Filhol E, Porath JD, Braun DA, Schueler M, Frigo A, Alibeu O, Masson C, Brochard K, Hurault de Ligny B, Novo R, Pietrement C, Kayserili H, Salomon R, Gubler MC, Otto EA, Antignac C, Kim J, Benmerah A, Hildebrandt F, Saunier S. Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. Am J Hum Genet. 2014 Jun 5;94(6):905-14. 18. Schaffer AE, Eggens VR, Caglayan AO, Reuter MS, Scott E, Coufal NG, Silhavy JL, Xue Y, Kayserili H, Yasuno K, Rosti RO, Abdellateef M, Caglar C, Kasher PR, Cazemier JL, Weterman MA, Cantagrel V, Cai N, Zweier C, Altunoglu U, Satkin NB, Aktar F, Tuysuz B, Yalcinkaya C, Caksen H, Bilguvar K, Fu XD, Trotta CR, Gabriel S, Reis A, Gunel M, Baas F, Gleeson JG. CLP1 founder mutation links trna splicing and maturation to cerebellar development and neurodegeneration.cell. 2014 Apr 24;157(3):651-63. doi: 10.1016/j.cell.2014.03.049. 19. Altunoglu U, Satkın B, Uyguner ZO, Kayserili H. Mild nasal clefting may be predictive for ALX4 heterozygotes. Am J Med Genet A. 2014 Apr 24. doi: 10.1002/ajmg.a.36578. [Epub ahead of print] 20. Kantaputra PN, Bongkochwilawan C, Kaewgahya M, Ohazama A, Kayserili H, Erdem AP, Aktoren O, Guven Y. Enamel-renal-gingival syndrome, hypodontia, and a novel FAM20A mutation. Am J Med Genet A. 2014 Apr 22. doi: 10.1002/ajmg.a.36579. [Epub ahead of print] No abstract available. 21. Roifman M, Marcelis CL, Paton T, Marshall C, Silver R, Lohr JL, Yntema HG, Venselaar H, Kayserili H, van Bon B, Seaward G; FORGE Canada Consortium, Brunner HG, Chitayat D. De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. Clin Genet. 2014 Apr 9. doi: 10.1111/cge.12401. [Epub ahead of print] 22. Uyguner ZO, Kocaoğlu M, Toksoy G, Basaran S, Kayserili H. Novel indel Mutation in the GDF5 Gene is Associated with Brachydactyly Type C in a Four-Generation Turkish Family. Mol Syndromol. 2014 Feb;5(2):81-6. doi: 10.1159/000357264. Epub 2014 Jan 3. 23. Kantaputra PN, Kayserili H, Guven Y, Kantaputra W, Balci MC, Tanpaiboon P, Tananuvat N, Uttarilli A, Dalal A. Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations. Am J Med Genet A. 2014 Jun;164A(6):1443-53. doi: 10.1002/ajmg.a.36489. Epub 2014 Mar 27. Curriculum vitae of Hülya Kayserili 6

24. Kariminejad A, Bozorgmehr B, Alizadeh H, Ghaderi-Sohi S, Toksoy G, Uyguner ZO, Kayserili H. Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation. Am J Med Genet A. 2014 May;164A(5):1322-7. doi: 10.1002/ajmg.a.36008. Epub 2014 Mar 25. No abstract available. 25. Nur BG, Pehlivanoğlu S, Mıhçı E, Calışkan M, Demir D, Alper OM, Kayserili H, Lüleci G. Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review. Pediatr Neurol. 2014 May;50(5):482-90. doi: 10.1016/j.pediatrneurol.2014.01.023. Epub 2014 Jan 11. 26. Guven Y, Altunoglu U, Aktoren O, Uyguner ZO, Kayserili H, Kaewkahya M, Kantaputra PN. Twins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensation. Eur J Med Genet. 2014 Apr;57(5):240-6. doi: 10.1016/j.ejmg.2014.02.014. Epub 2014 Mar 12. 27. Czeschik JC, Albrecht B, Kayserili H, Kuechler A, Wagner N, Wieczorek D, Lüdecke HJ.A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome. Clin Dysmorphol. 2014 Apr;23(2):67-70. doi: 10.1097/MCD.0000000000000035. No abstract available. 28. Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GM, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science. 2014 Jan 31;343(6170):506-11. doi: 10.1126/science.1247363. 29. Aslanger AD, Altunoglu U, Aslanger E, Satkın BN, Uyguner ZO, Kayserili H. Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2. Am J Med Genet A. 2014 Feb;164(2):484-9. doi: 10.1002/ajmg.a.36277. Epub 2013 Oct 29. 30. Corbacioglu Esmer A, Kalelioglu I, Omeroglu RE, Kayserili H, Gulluoglu M, Has R, Yuksel A. Prenatal ultrasonographic diagnosis of generalized arterial calcification of infancy. J Clin Ultrasound. 2014 Jan 13. doi: 10.1002/jcu.22121. [Epub ahead of print] 31. Schanze D, Kayserili H, Satkın BN, Altunoglu U, Zenker M. Fraser syndrome due to mutations in GRIP1-Clinical phenotype in two families and expansion of the mutation spectrum. Am J Med Genet A. 2013 Dec 19. doi: 10.1002/ajmg.a.36343. [Epub ahead of print] No abstract available. 32. Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Félix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Repetto GM, Golabi M, Blair E, Male A, Giuliano F, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Wieczorek D, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014 Jan;13(1):44-58. doi: 10.1016/S1474-4422(13)70265-5. Epub 2013 Nov 29. Curriculum vitae of Hülya Kayserili 7

33. Schmidts M, Vodopiutz J, Christou-Savina S, Cortés CR, McInerney-Leo AM, Emes RD, Arts HH, Tüysüz B, D'Silva J, Leo PJ, Giles TC, Oud MM, Harris JA, Koopmans M, Marshall M, Elçioglu N, Kuechler A, Bockenhauer D, Moore AT, Wilson LC, Janecke AR, Hurles ME, Emmet W, Gardiner B, Streubel B, Dopita B, Zankl A, Kayserili H, Scambler PJ, Brown MA, Beales PL, Wicking C; UK10K, Duncan EL, Mitchison HM. Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. Am J Hum Genet. 2013 Nov 7;93(5):932-44. doi: 10.1016/j.ajhg.2013.10.003. Epub 2013 Oct 31. 34. Lopez E, Thauvin-Robinet C, Reversade B, Khartoufi NE, Devisme L, Holder M, Ansart-Franquet H, Avila M, Lacombe D, Kleinfinger P, Kaori I, Takanashi J, Le Merrer M, Martinovic J, Noël C, Shboul M, Ho L, Güven Y, Razavi F, Burglen L, Gigot N, Darmency-Stamboul V, Thevenon J, Aral B, Kayserili H, Huet F, Lyonnet S, Le Caignec C, Franco B, Rivière JB, Faivre L, Attié-Bitach T. C5orf42 is the major gene responsible for OFD syndrome type VI. Hum Genet. 2014 Mar;133(3):367-77. doi: 10.1007/s00439-013-1385-1. Epub 2013 Nov 1. 35. Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, DavisEE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium, Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F. Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. Am J Hum Genet. 2013 Nov 7;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012. Epub 2013 Oct 17. 36. Murray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M, Haghayegh S, Wieczorek D, Kayserili H, Albert MH, Wise CA, Brandon J, Kleefstra T, Warris A, van der Flier M, Bamforth JS, Doonanco K, Adès L, Ma A, Field M, Johnson D, Shackley F, Firth H, Woods CG, Nürnberg P, Gatti RA, Hurles M, Bober MB, Wollnik B, Jackson AP. Extreme growth failure is a common presentation of ligase IV deficiency. Hum Mutat. 2014 Jan;35(1):76-85. doi: 10.1002/humu.22461. Epub 2013 Nov 8. 37. Symoens S, Malfait F, D'hondt S, Callewaert B, Dheedene A, Steyaert W, Bächinger HP, De Paepe A,Kayserili H, Coucke PJ. Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans. Orphanet J Rare Dis. 2013 Sep 30;8:154. doi: 10.1186/1750-1172-8-154. 38. Dimopoulou A, Fischer B, Gardeitchik T, Schröter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, Lachlan K, Johnson D, Phadke S, Gupta N, Simandlova M, Kabra M, David A, Nijtmans L, Chitayat D, Tuysuz B, Brancati F, Mundlos S, Van Maldergem L, Morava E, Wollnik B, Kornak U. Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. Mol Genet Metab. 2013 nov;110(3): 352-61. doi: 10.1016/j.ymgme.2013.08.009. Epub 2013 Aug 24. 39. Kantaputra PN, Kayserili H, Güven Y, Kantaputra W, Balci MC, Tanpaiboon P, Uttarilli A, Dalal A. Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI. J Inherit Metab Dis. 2013 Aug 22. [Epub ahead of print] 40. Wieczorek D, Bögershausen N, Beleggia F, Steiner-Haldenstätt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altmüller J, Alanay Y, Kayserili H, Klein-Hitpass L, Böhringer S, Wollstein A, Albrecht B, Boduroglu K, Caliebe A, Chrzanowska K, Cogulu O, Cristofoli F, Czeschik JC, Devriendt K, Dotti MT, Elcioglu N, Gener B, Goecke TO, Curriculum vitae of Hülya Kayserili 8

Krajewska-Walasek M, Guillén-Navarro E, Hayek J, Houge G, Kilic E, Simsek-Kiper PÖ, López-González V, Kuechler A, Lyonnet S, Mari F, Marozza A, Mathieu Dramard M, Mikat B, Morin G, Morice-Picard F, Ozkinay F, Rauch A, Renieri A, Tinschert S, Utine GE, Vilain C, Vivarelli R, Zweier C, Nürnberg P, Rahmann S, Vermeesch J, Lüdecke HJ, Zeschnigk M, Wollnik B. A comprehensive molecular study on Coffin-Siris and Nicolaides- Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet. 2013 Dec 20;22(25):5121-35. doi: 10.1093/hmg/ddt366. Epub 2013 Aug 1. 41. Iida A, Simsek-Kiper PÖ, Mizumoto S, Hoshino T, Elcioglu N, Horemuzova E, Geiberger S, Yesil G,Kayserili H, Utine GE, Boduroglu K, Watanabe S, Ohashi H, Alanay Y, Sugahara K, Nishimura G, Ikegawa S. Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations. Hum Mutat. 2013 Oct;34(10):1381-6. doi: 10.1002/humu.22377. Epub 2013 Jul 26. 42. Aydin HU, Altunoglu U, Uyguner ZO, Ozkan T, Kayserili H. J Plast Reconstr Aesthet Surg. 2013 Oct;66(10):e287-9. doi: 10.1016/j.bjps.2013.05.011. Epub 2013 Jun 1. Multiple synostoses syndrome in three members of a family displaying a novel mutation in NOGGIN gene. abstract available. 43. Alders M, Mendola A, Adès L, Al Gazali L, Bellini C, Dallapiccola B, Edery P, Frank U, Hornshuh F, Huisman SA, Jagadeesh S, Kayserili H, Keng WT, Lev D, Prada CE, Sampson JR, Schmidtke J, Shashi V, van Bever Y, Van der Aa N, Verhagen JM, Verheij JB, Vikkula M, Hennekam RC. Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations. Mol Syndromol. 2013 Mar;4(3):107-13. doi: 10.1159/000342486. Epub 2012 Oct 2. 44. Czeschik JC, Voigt C, Alanay Y, Albrecht B, Avci S, Fitzpatrick D, Goudie DR, Hehr U, Hoogeboom AJ,Kayserili H, Simsek-Kiper PO, Klein-Hitpass L, Kuechler A, López-González V, Martin M, Rahmann S, Schweiger B, Splitt M, Wollnik B, Lüdecke HJ, Zeschnigk M, Wieczorek D. Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. Hum Genet. 2013 Aug;132(8):885-98. doi: 10.1007/s00439-013-1295-2. Epub 2013 Apr 9. 45. Keupp K, Beleggia F, Kayserili H, Barnes AM, Steiner M, Semler O, Fischer B, Yigit G, Janda CY, Becker J, Breer S, Altunoglu U, Grünhagen J, Krawitz P, Hecht J, Schinke T, Makareeva E, Lausch E, Cankaya T, Caparrós- Martín JA, Lapunzina P, Temtamy S, Aglan M, Zabel B, Eysel P, Koerber F, Leikin S, Garcia KC, Netzer C, Schönau E, Ruiz-Perez VL, Mundlos S, Amling M, Kornak U, Marini J, Wollnik B. Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet. 2013 Apr 4;92(4):565-74. doi: 10.1016/j.ajhg. 2013.02.010. Epub 2013 Mar 14. 46. Schmidts M, Arts HH, Bongers EM, Yap Z, Oud MM, Antony D, Duijkers L, Emes RD, Stalker J, Yntema JB, Plagnol V, Hoischen A, Gilissen C, Forsythe E, Lausch E, Veltman JA, Roeleveld N, Superti-Furga A, Kutkowska- Kazmierczak A, Kamsteeg EJ, Elçioğlu N, van Maarle MC, Graul-Neumann LM, Devriendt K, Smithson SF, Wellesley D, Verbeek NE, Hennekam RC, Kayserili H, Scambler PJ, Beales PL; UK10K, Knoers NV, Roepman R, Mitchison HM. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet. 2013 May;50(5):309-23. doi: 10.1136/jmedgenet-2012-101284. Epub 2013 Mar 1. 47. Ergul Y, Nisli K, Kayserili H, Karaman B, Basaran S, Koca B, Aydogan U, Omeroglu RE, Dindar A. Cardiovascular abnormalities in Williams syndrome: 20 years' experience in Istanbul. Acta Cardiol. 2012 Dec;67(6):649-55. 48. Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM,Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group, Johnson C, Attié-Bitach T, Gleeson JG, Curriculum vitae of Hülya Kayserili 9

Valente EM. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6. 49. Esmar AÇ, Kalelioğlu I, Kayserili H, Yüksel A, Has R. Prenatal Diagnosis of frontonsal dysplasia with anterior encephalocele. J Turk Ger Gynecol Assoc. 2013 Mar 1;14 (1) 50:2. 50. Dinckan N, Guven Y, Kayserili H, Aktoren O, Uyguner OZ. A novel c.1255g>t (p.d419y) mutation in SH3BP2 gene causes cherubism in a Turkish family. Oral Surg Oral Med Oral Pathol Oral Radiol. 2012 Nov;114(5):e42-6. doi: 10.1016/j.oooo.2012.01.031. Epub 2012 May 12. 51. Cekmez F, Ince EZ, Coban A, Yildirim S, Bulut EO, Kayserili H. Goldenhar syndrome: a new case expanding the phenotype by costal agenesis and pulmonary hypoplasia. Eur Rev Med Pharmacol Sci. 2012 Sep;16(9):1307-8. No abstract available. 52. Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben- Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science. 2012 Oct 19;338(6105):394-7. doi: 10.1126/science.1224631. Epub 2012 Sep 6. 53. Solomon BD, Bear KA, Wyllie A, Keaton AA, Dubourg C, David V, Mercier S, Odent S, Hehr U, Paulussen A, Clegg NJ, Delgado MR, Bale SJ, Lacbawan F, Ardinger HH, Aylsworth AS, Bhengu NL, Braddock S, Brookhyser K, Burton B, Gaspar H, Grix A, Horovitz D, Kanetzke E, Kayserili H, Lev D, Nikkel SM, Norton M, Roberts R, Saal H, Schaefer GB, Schneider A, Smith EK, Sowry E, Spence MA, Shalev SA, Steiner CE, Thompson EM, Winder TL, Balog JZ, Hadley DW, Zhou N, Pineda-Alvarez DE, Roessler E, Muenke M. Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog. J Med Genet. 2012 Jul;49(7):473-9. doi: 10.1136/jmedgenet-2012-101008. 54. Fischer B, Dimopoulou A, Egerer J, Gardeitchik T, Kidd A, Jost D, Kayserili H, Alanay Y, Tantcheva-Poor I, Mangold E, Daumer-Haas C, Phadke S, Peirano RI, Heusel J, Desphande C, Gupta N, Nanda A, Felix E, Berry- Kravis E, Kabra M, Wevers RA, van Maldergem L, Mundlos S, Morava E, Kornak U. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Hum Genet. 2012 Nov;131(11):1761-73. doi: 10.1007/s00439-012-1197-8. Epub 2012 Jul 8. 55. Hens K, Van El CE, Borry P, Cambon-Thomsen A, Cornel MC, Forzano F, Lucassen A, Patch C, Tranebjaerg L, Vermeulen E, Salvaterra E, Tibben A, Dierickx K; PPPC of the European Society of Human Genetics. Developing a policy for paediatric biobanks: principles for good practice. Eur J Hum Genet. 2013 Jan;21(1):2-7. doi: 10.1038/ejhg.2012.99. Epub 2012 Jun 20. (H. Kayserili is a member of PPPC ) 56. Kayserili H, Kantaputra PN. Multiple supernumerary molars, anterior openbite, and large ear lobules in mucopolysaccharidosis type VI patient. Am J Med Genet A. 2012 Jul;158A(7):1798-800. doi: 10.1002/ajmg.a.35420. Epub 2012 Jun 8. No abstract available. 57. Ergul Y, Nisli K, Kayserili H, Karaman B, Basaran S, Dursun M, Yilmaz E, Ergul N, Unal SN, Dindar A. Evaluation of coronary artery abnormalities in Williams syndrome patients using myocardial perfusion scintigraphy and CT angiography. Cardiol J. 2012;19(3):301-8. 58. van Bon BW, Gilissen C, Grange DK, Hennekam RC, Kayserili H, Engels H, Reutter H, Ostergaard JR, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N, de Vries P, Steehouwer M, Veltman JA, Robertson SP, Curriculum vitae of Hülya Kayserili 10

Brunner HG, de Vries BB, Hoischen A. Cantú syndrome is caused by mutations in ABCC9. Am J Hum Genet. 2012 Jun 8;90(6):1094-101. doi: 10.1016/j.ajhg.2012.04.014. Epub 2012 May 17. 59. Bonnard C, Strobl AC, Shboul M, Lee H, Merriman B, Nelson SF, Ababneh OH, Uz E, Güran T, Kayserili H, Hamamy H, Reversade B. Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. Nat Genet. 2012 May 13;44(6):709-13. doi: 10.1038/ng.2259. 60. Chassaing N, Sorrentino S, Davis EE, Martin-Coignard D, Iacovelli A, Paznekas W, Webb BD, Faye-Petersen O, Encha-Razavi F, Lequeux L, Vigouroux A, Yesilyurt A, Boyadjiev SA, Kayserili H, Loget P, Carles D, Sergi C, Puvabanditsin S, Chen CP, Etchevers HC, Katsanis N, Mercer CL, Calvas P, Jabs EW. OTX2 mutations contribute to the otocephaly-dysgnathia complex. J Med Genet. 2012 Jun;49(6):373-9. doi: 10.1136/jmedgenet-2012-100892. Epub 2012 May 10. 61. Mitchell S, Siegel DH, Shieh JT, Stevenson DA, Grimmer JF, Lewis T, Metry D, Frieden I, Blei F, Kayserili H, Drolet BA, Bayrak-Toydemir P. Candidate locus analysis for PHACE syndrome. Am J Med Genet A. 2012 Jun;158A(6):1363-7. doi: 10.1002/ajmg.a.35341. Epub 2012 Apr 27. 62. Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, van Beusekom E, Riemersma M, Pfundt R, Vissers LE, Schraders M, Altunoglu U, Buckley MF, Brunner HG, Grisart B, Zhou H, Veltman JA, Gilissen C, Mancini GM, Delrée P, Willemsen MA, Ramadža DP, Chitayat D, Bennett C, Sheridan E, Peeters EA, Tan-Sindhunata GM, de Die-Smulders CE, Devriendt K,Kayserili H, El-Hashash OA, Stemple DL, Lefeber DJ, Lin YY, van Bokhoven H. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α- dystroglycan. Nat Genet. 2012 May;44(5):581-5. doi: 10.1038/ng.2253. 63. Yuksel-Apak M, Bögershausen N, Pawlik B, Li Y, Apak S, Uyguner O, Milz E, Nürnberg G, Karaman B, Gülgören A, Grzeschik KH, Nürnberg P, Kayserili H, Wollnik B. A large duplication involving the IHH locus mimics acrocallosal syndrome. Eur J Hum Genet. 2012 Jun;20(6):639-44. doi: 10.1038/ejhg.2011.250. Epub 2012 Jan 11. 64. Kalay E, Sezgin O, Chellappa V, Mutlu M, Morsy H, Kayserili H, Kreiger E, Cansu A, Toraman B, Abdalla EM, Aslan Y, Pillai S, Akarsu NA. Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome. Am J Hum Genet. 2012 Jan 13;90(1):76-85. doi: 10.1016/j.ajhg.2011.11.014. Epub 2011 Dec 22. 65. Kayserili H, Altunoglu U, Ozgur H, Basaran S, Uyguner ZO. Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations. Am J Med Genet A. 2012 Jan; 158A(1):236-44. doi: 10.1002/ajmg.a.34390. Epub 2011 Dec 2. 66. Saraydemir S, Taşpınar N, Eroğul O, Kayserili H, Dinçkan N. Down syndrome diagnosis based on Gabor Wavelet Transform. J Med Syst. 2012 Oct;36(5):3205-13. doi: 10.1007/s10916-011-9811-1. Epub 2011 Nov 30. Curriculum vitae of Hülya Kayserili 11

67. Rajpopat S, Moss C, Mellerio J, Vahlquist A, Gånemo A, Hellstrom-Pigg M, Ilchyshyn A, Burrows N, Lestringant G, Taylor A, Kennedy C, Paige D, Harper J, Glover M, Fleckman P, Everman D, Fouani M, Kayserili H, Purvis D, Hobson E, Chu C, Mein C, Kelsell D, O'Toole E. Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. Arch Dermatol. 2011 Jun;147(6):681-6. doi: 10.1001/archdermatol.2011.9. Epub 2011 Feb 21. 68. Hanna RM, Marsh SE, Swistun D, Al-Gazali L, Zaki MS, Abdel-Salam GM, Al-Tawari A, Bastaki L, Kayserili H, Rajab A, Boglárka B, Dietrich RB, Dobyns WB, Truwit CL, Sattar S, Chuang NA, Sherr EH, Gleeson JG. Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families. Neurology. 2011 Jan 25;76(4):373-82. doi: 10.1212/WNL.0b013e318208f492. 69. Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG; NISC Comparative Sequencing Program, Gyapay G, Rieger S, Tönshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attié-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet. 2011 Mar;43(3):189-96. doi: 10.1038/ng.756. Epub 2011 Jan 23. 70. Kayserili H, Wollnik B, Güven G, Emiroğlu MU, Başerer N, Uyguner ZO. A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mrna decay in a Turkish patient. Am J Med Genet A. 2011 Jan;155A(1):180-5. doi: 10.1002/ajmg.a.33780. 71. Kalay E, Yigit G, Aslan Y, Brown KE, Pohl E, Bicknell LS, Kayserili H, Li Y, Tüysüz B, Nürnberg G, Kiess W, Koegl M, Baessmann I, Buruk K, Toraman B, Kayipmaz S, Kul S, Ikbal M, Turner DJ, Taylor MS, Aerts J, Scott C, Milstein K, Dollfus H, Wieczorek D, Brunner HG, Hurles M, Jackson AP, Rauch A, Nürnberg P, Karagüzel A, Wollnik B. CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet. 2011 Jan;43(1):23-6. doi: 10.1038/ng.725. Epub 2010 Dec 5. 72. Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F; GPN Study Group. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. J Med Genet. 2011 Feb;48(2):105-16. doi: 10.1136/jmg.2010.082552. Epub 2010 Nov 10. 73. Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat. 2010 Oct;31(10):1142-54. doi: 10.1002/humu.21328. Curriculum vitae of Hülya Kayserili 12

74. Karakas Z, Tugcu D, Unuvar A, Atay D, Akcay A, Gedik H, Kayserili H, Dogan O, Anak S, Devecioglu O. Li- Fraumeni syndrome in a Turkish family. Pediatr Hematol Oncol. 2010 May;27:297-305. doi: 10.3109/08880011003663374. 75. 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. doi: 10.1016/j.ajhg.2010.03.004. Epub 2010 Apr 8. 76. Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group, Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Hum Mutat. 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239. 77. Karaman B, Rosti RO, Yilmaz K, Oztürk H, Kayserili H, Başaran S. A de novo complex chromosomal rearrangement involving chromosomes 2, 8 and 13 in a dysmorphic case with polysyndactyly. Turk J Pediatr. 2009 Nov-Dec;51(6):613-6. 78. Denayer E, Devriendt K, de Ravel T, Van Buggenhout G, Smeets E, Francois I, Sznajer Y, Craen M, Leventopoulos G, Mutesa L, Vandecasseye W, Massa G, Kayserili H, Sciot R, Fryns JP, Legius E. Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. Genes Chromosomes Cancer. 2010 Mar;49(3):242-52. doi: 10.1002/gcc.20735. 79. Rosti RO, Kayserili H. Kabuki make-up syndrome with unilateral renal agenesis. Turk J Pediatr. 2009 May- Jun;51(3):298-300. 80. Harville HM, Held S, Diaz-Font A, Davis EE, Diplas BH, Lewis RA, Borochowitz ZU, Zhou W, Chaki M, MacDonald J, Kayserili H, Beales PL, Katsanis N, Otto E, Hildebrandt F. Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. J Med Genet. 2010 Apr;47(4):262-7. doi: 10.1136/jmg.2009.071365. Epub 2009 Sep 24. 81. Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group, Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Curriculum vitae of Hülya Kayserili 13

Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P, Pollazzon M, Silengo M, De Vescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al-Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, de Jong MM, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Martorell Sampol L, Rodriguez B, Pascual-Castroviejo I, Teber S, Anlar B, Comu S, Karaca E, Kayserili H, Yüksel A, Akcakus M, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hennekam R, Lees M, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D. Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A. 2009 Oct;149A(10):2173-80. doi: 10.1002/ajmg.a.33025. 82. Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, Yigit G, Uyguner O, Candan S, Okur H, Kaygin S, Balci S, Mavili E, Alikasifoglu M, Haase I, Wollnik B, Akarsu NA. ALX4 dysfunction disrupts craniofacial and epidermal development. Hum Mol Genet. 2009 Nov 15;18(22):4357-66. doi: 10.1093/hmg/ddp391. Epub 2009 Aug 19. 83. Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS, Abdel-Aleem A, Rosti RO, Kayserili H, Swistun D, Scott LC, Bertini E, Boltshauser E, Fazzi E, Travaglini L, Field SJ, Gayral S, Jacoby M, Schurmans S, Dallapiccola B, Majerus PW, Valente EM, Gleeson JG. Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet. 2009 Sep;41(9):1032-6. doi: 10.1038/ng.423. Epub 2009 Aug 9. 84. Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al- Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Hausser I, Budde B, Nürnberg G, Nürnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U. Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet. 2009 Sep;41(9):1016-21. doi: 10.1038/ng.413. Epub 2009 Aug 2. 85. Vega H, Trainer AH, Gordillo M, Crosier M, Kayserili H, Skovby F, Uzielli ML, Schnur RE, Manouvrier S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Hennekam RC, Jabs EW. Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. J Med Genet. 2010 Jan;47(1):30-7. doi: 10.1136/jmg.2009.068395. Epub 2009 Jul 1. 86. Furuichi T, Kayserili H, Hiraoka S, Nishimura G, Ohashi H, Alanay Y, Lerena JC, Aslanger AD, Koseki H, Cohn DH, Superti-Furga A, Unger S, Ikegawa S. Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. J Med Genet. 2009 Aug;46(8):562-8. doi: 10.1136/jmg.2008.065201. Epub 2009 Jun 8. 87. Uzumcu A, Karaman B, Toksoy G, Uyguner ZO, Candan S, Eris H, Tatli B, Geckinli B, Yuksel A,Kayserili H, Basaran S. Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of Curriculum vitae of Hülya Kayserili 14

FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome. Eur J Med Genet. 2009 Sep- Oct;52(5):315-20. doi: 10.1016/j.ejmg.2009.05.003. Epub 2009 May 19. 88. Uzumcu A, Candan S, Toksoy G, Uyguner ZO, Karaman B, Eris H, Tatli B, Kayserili H, Yuksel A, Geckinli B, Yuksel-Apak M, Basaran S. Mutational screening of BASP1 and transcribed processed pseudogene TPPsig- BASP1 in patients with Möbius syndrome. J Genet Genomics. 2009 Apr;36(4):251-6. doi:10.1016/s1673-8527(08)60112-5. 89. Hucthagowder V, Morava E, Kornak U, Lefeber DJ, Fischer B, Dimopoulou A, Aldinger A, Choi J, Davis EC, Abuelo DN, Adamowicz M, Al-Aama J, Basel-Vanagaite L, Fernandez B, Greally MT, Gillessen-Kaesbach G, Kayserili H, Lemyre E, Tekin M, Türkmen S, Tuysuz B, Yüksel-Konuk B, Mundlos S, Van Maldergem L, Wevers RA, Urban Z. Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum Mol Genet. 2009 Jun 15;18(12):2149-65. doi: 10.1093/hmg/ddp148. Epub 2009 Mar 25. 90. Baş F, Kayserili H, Darendeliler F, Uyguner O, Günöz H, Yüksel Apak M, Atalar F, Bundak R, Wilson RC, New MI, Wollnik B, Saka N. CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children. J Clin Res Pediatr Endocrinol. 2009;1(3):116-28. doi: 10.4008/jcrpe.v1i3.49. Epub 2009 Feb 2. 91. Tuna EB, Sulun T, Rosti O, El Abdallah F, Kayserili H, Aktoren O. Craniodentofacial manifestations in Hallermann-Streiff syndrome. Cranio. 2009 Jan;27(1):33-8. 92. Chung BD, Kayserili H, Ai M, Freudenberg J, Uzümcü A, Uyguner O, Bartels CF, Höning S, Ramirez A, Hanisch FG, Nürnberg G, Nürnberg P, Warman ML, Wollnik B, Kubisch C, Netzer C. A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats. Hum Mutat. 2009 Apr;30(4):641-8. doi: 10.1002/humu.20916. 93. Kara B, Uzümcü A, Uyguner O, Rosti RO, Koçbaş A, Ozmen M, Kayserili H. Ataxia with vitamin E deficiency associated with deafness. Turk J Pediatr. 2008 Sep-Oct;50(5):471-5. 94. Willaert A, Malfait F, Symoens S, Gevaert K, Kayserili H, Megarbane A, Mortier G, Leroy JG, Coucke PJ, De Paepe A. Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation. J Med Genet. 2009 Apr;46(4):233-41. doi: 10.1136/jmg.2008.062729. Epub 2008 Dec 16. 95. Bartholdi D, Krajewska-Walasek M, Ounap K, Gaspar H, Chrzanowska KH, Ilyana H, Kayserili H, Lurie IW, Schinzel A, Baumer A. Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. J Med Genet. 2009 Mar;46(3):192-7. doi: 10.1136/jmg.2008.061820. Epub 2008 Dec 9. Curriculum vitae of Hülya Kayserili 15

96. Nisli K, Oner N, Candan S, Kayserili H, Tansel T, Tireli E, Karaman B, Omeroglu RE, Dindar A, Aydogan U, Başaran S, Ertugrul T. Congenital heart disease in children with Down's syndrome: Turkish experience of 13 years. Acta Cardiol. 2008 Oct;63(5):585-9. 97. Nişli K, Oner N, Kayserili H, Ertuğrul T. A case of Hennekam syndrome presenting with massive pericardial effusion. Turk Kardiyol Dern Ars. 2008 Jul;36(5):325-8. Turkish. 98. Gene symbol: COL11A2. Disease: Otospondylomegaepiphyseal dysplasia. Uyguner ZO, Kayserili H. Hum Genet. 2008 Oct;124(3):310-1. No abstract available. 99. Guven Y, Rosti RO, Tuna EB, Kayserili H, Aktoren O. Orodental findings of a family with lacrimo-auriculo-dento digital (LADD) syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008 Dec;106(6):e33-44. doi: 10.1016/j.tripleo.2008.07.019. Epub 2008 Sep 17. 100. Van Maldergem L, Yuksel-Apak M, Kayserili H, Seemanova E, Giurgea S, Basel-Vanagaite L, Leao-Teles E, Vigneron J, Foulon M, Greally M, Jaeken J, Mundlos S, Dobyns WB. Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. Neurology. 2008 Nov 11;71(20):1602-8. doi: 10.1212/01.wnl.0000327822.52212.c7. Epub 2008 Aug 20. 101. Kara B, Karaman B, Ozmen M, Rosti RO, Calişkan M, Kayserili H, Başaran S. Angelman syndrome: clinical findings and follow-up data of 14 patients. Turk J Pediatr. 2008 Mar-Apr;50(2):137-42. 102. Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L; International JSRD Study Group, Dallapiccola B, Gleeson JG, Valente EM. RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. Clin Genet. 2008 Aug;74(2):164-70. doi: 10.1111/j.1399-0004.2008.01047.x. Epub 2008 Jun 28. 103. Gordillo M, Vega H, Trainer AH, Hou F, Sakai N, Luque R, Kayserili H, Basaran S, Skovby F, Hennekam RC, Uzielli ML, Schnur RE, Manouvrier S, Chang S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas- Rothschild A, Schultz RA, McDaniel LD, Ozono K, Inui K, Zou H, Jabs EW. The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet. 2008 Jul 15;17(14):2172-80. doi: 10.1093/hmg/ddn116. Epub 2008 Apr 14. 104. Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nürnberg P, Foulquier F; ARCL Debré-type Study Group, Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet. 2008 Jan;40(1):32-4. Epub 2007 Dec 23. Curriculum vitae of Hülya Kayserili 16

105. Kalay E, Uzumcu A, Krieger E, Caylan R, Uyguner O, Ulubil-Emiroglu M, Erdol H, Kayserili H, Hafiz G, Başerer N, Heister AJ, Hennies HC, Nürnberg P, Başaran S, Brunner HG, Cremers CW, Karaguzel A, Wollnik B, Kremer H. MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. Am J Med Genet A. 2007 Oct 15;143A(20):2382-9. 106. Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D,Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D'Hooghe M, Fazzi E, Fenerci EY, Hennekam RC, Kiss A, Lees MM, Marco E, Phadke SR, Rigoli L, Romano S, Salpietro CD, Sherr EH, Signorini S, Stromme P, Stuart B, Sztriha L, Viskochil DH, Yuksel A, Dallapiccola B; International JSRD Study Group, Valente EM, Gleeson JG. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet. 2007 Jul;81(1):104-13. Epub 2007 May 18. 107. Semerci CN, Satiroglu-Tufan NL, Turan S, Bereket A, Tuysuz B, Yilmaz E, Kayserili H, Karaman B, Semiz S, Duzcan F, Bagci H. Detection of Y chromosomal material in patients with a 45,X karyotype by PCR method. Tohoku J Exp Med. 2007 Mar;211(3):243-9. 108. Uyguner O, Kayserili H, Li Y, Karaman B, Nürnberg G, Hennies H, Becker C, Nürnberg P, Başaran S, Apak MY, Wollnik B. A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3. Clin Genet. 2007 Mar;71(3):212-9. 109. Yuksel A, Kayserili H, Gungor F. Short femurs detected at 25 and 31 weeks of gestation diagnosed as Leroy I- cell disease in the postnatal period: a report of two cases. Fetal Diagn Ther. 2007;22(3):198-202. Epub 2007 Jan 17. 110. Stum M, Davoine CS, Vicart S, Guillot-Noël L, Topaloglu H, Carod-Artal FJ, Kayserili H, Hentati F, Merlini L, Urtizberea JA, Hammouda el-h, Quan PC, Fontaine B, Nicole S. Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome. Hum Mutat. 2006 Nov;27(11):1082-91. 111. Kara B, Kayserili H, Imer M, Calişkan M, Ozmen M. Quadrigeminal cistern arachnoid cyst in a patient with Kabuki syndrome. Pediatr Neurol. 2006 Jun;34(6):478-80. 112. Karaman B, Aytan M, Yilmaz K, Toksoy G, Onal EP, Ghanbari A, Engur A, Kayserili H, Yuksel-Apak M, Basaran S. The identification of small supernumerary marker chromosomes; the experiences of 15,792 fetal karyotyping from Turkey. Eur J Med Genet. 2006 May-Jun;49(3):207-14. Epub 2005 Jul 12. 113. Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nürnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner HG, Nürnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B. Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. Hum Mutat. 2006 Jul;27(7):633-9. 114. Uyguner ZO, Siva A, Kayserili H, Saip S, Altintaş A, Apak MY, Albayram S, Işik N, Akman-Demir G, Taşyürekli M, Oz B, Wollnik B. The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndrome. J Neurol Sci. 2006 Jul 15;246(1-2):123-30. Epub 2006 May 30. Curriculum vitae of Hülya Kayserili 17

115. Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nürnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CW, Yüksel-Apak M, Nürnberg P, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B. Mutations in different components of FGF signaling in LADD syndrome. Nat Genet. 2006 Apr;38(4):414-7. Epub 2006 Feb 26. Erratum in: Nat Genet. 2006 Apr;38(4):495. Kubisch, Chriütian [corrected to Kubisch, Christian]. 116. Uzumcu A, Norgett EE, Dindar A, Uyguner O, Nisli K, Kayserili H, Sahin SE, Dupont E, Severs NJ, Leigh IM, Yuksel-Apak M, Kelsell DP, Wollnik B. Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. J Med Genet. 2006 Feb;43(2):e5. 117. Kumru P, Aka N, Köse G, Vural ZT, Peker O, Kayserili H. Short rib polydactyly syndrome type 3 with absence of fibulae (Verma-Naumoff syndrome). Fetal Diagn Ther. 2005 Sep-Oct;20(5):410-4. 118. Ozmen M, Tatli B, Aydinli N, Calişkan M, Demirkol M, Kayserili H. Etiologic evaluation in 247 children with global developmental delay at Istanbul, Turkey. J Trop Pediatr. 2005 Oct;51(5):310-3. Epub 2005 Jun 20. 119. Tukel T, Uzumcu A, Gezer A, Kayserili H, Yuksel-Apak M, Uyguner O, Gultekin SH, Hennies HC, Nurnberg P, Desnick RJ, Wollnik B. A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter. J Med Genet. 2005 May;42(5):408-15. Erratum in: J Med Genet. 2005 Nov;42(11):862. 120. Tutunculer F, Darendeliler F, Gunoz H, Karaman B, Kayserili H. 18q deletion syndrome associated with autoimmune thyroid disease presenting as hyperthyroidism. J Pediatr Endocrinol Metab. 2005 Apr;18(4):419-20. No abstract available. 121. Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, Joenje H. Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. Nat Genet. 2005 May;37(5):468-70. 122. Valente EM, Marsh SE, Castori M, Dixon-Salazar T, Bertini E, Al-Gazali L, Messer J, Barbot C, Woods CG, Boltshauser E, Al-Tawari AA, Salpietro CD, Kayserili H, Sztriha L, Gribaa M, Koenig M, Dallapiccola B, Gleeson JG. Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Ann Neurol. 2005 Apr;57(4):513-9. Erratum in: Ann Neurol. 2005 Jun;57(6):934. 123. Maas SM, Kayserili H, Lam J, Apak MY, Hennekam RC. Further delineation of Frank-ter Haar syndrome. Am J Med Genet A. 2004 Dec 1;131(2):127-33. Review. 124. Dixon-Salazar T, Silhavy JL, Marsh SE, Louie CM, Scott LC, Gururaj A, Al-Gazali L, Al-Tawari AA,Kayserili H, Sztriha L, Gleeson JG. Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Am J Hum Genet. 2004 Dec;75(6):979-87. Epub 2004 Oct 4. Curriculum vitae of Hülya Kayserili 18

125. Ozbey H, Darendeliler F, Kayserili H, Korkmazlar U, Salman T. Gender assignment in female congenital adrenal hyperplasia: a difficult experience. BJU Int. 2004 Aug;94(3):388-91. 126. Iacovacci S, Cicuzza S, Odorisio T, Silvestri E, Kayserili H, Zambruno G, Puddu P, D'Alessio M. Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia. Exp Dermatol. 2003 Oct;12(5):716-20. Erratum in: Exp Dermatol. 2003 Dec;12(6):925 127. Tukel T, Uyguner O, Wei JQ, Yuksel-Apak M, Saka N, Song DX, Kayserili H, Bas F, Gunoz H, Wilson RC, New MI, Wollnik B. A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2003 Dec;88(12):5893-7. 128. Dowling O, Difeo A, Ramirez MC, Tukel T, Narla G, Bonafe L, Kayserili H, Yuksel-Apak M, Paller AS, Norton K, Teebi AS, Grum-Tokars V, Martin GS, Davis GE, Glucksman MJ, Martignetti JA. Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet. 2003 Oct;73(4):957-66. Epub 2003 Sep 12. 129. Wollnik B, Tukel T, Uyguner O, Ghanbari A, Kayserili H, Emiroglu M, Yuksel-Apak M. Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. Am J Med Genet A. 2003 Sep 15;122A(1):42-5. 130. Uyguner O, Goicoechea de Jorge E, Cefle A, Baykal T, Kayserili H, Cefle K, Demirkol M, Yuksel-Apak M, Rodriguez de Córdoba S, Wollnik B. Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations. J Inherit Metab Dis. 2003;26(1):17-23. 131. Maassen JA, Tobias ES, Kayserilli H, Tukel T, Yuksel-Apak M, D'Haens E, Kleijer WJ, Féry F, van der Zon GC. Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. J Clin Endocrinol Metab. 2003 Sep;88(9):4251-7. 132. Mancini GM, van Diggelen OP, Kleijer WJ, Di Rocco M, Farina V, Yuksel-Apak M, Kayserili H, Halley DJ. Studies on the pathogenesis of Costello syndrome. J Med Genet. 2003 Apr;40(4):e37. No abstract available. 133. Wollnik B, Kayserili H, Uyguner O, Tukel T, Yuksel-Apak M. Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family. Ann Genet. 2002 Oct-Dec;45(4):213-7. 134. Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B,Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet. 2002 Nov;71(5):1033-43. Epub 2002 Oct 4. Curriculum vitae of Hülya Kayserili 19

135. Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR. BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. Am J Hum Genet. 2002 Jul;71(1):22-9. Epub 2002 May 15. 136. Seymen F, Tuna B, Kayserili H. Seckel syndrome: report of a case. J Clin Pediatr Dent. 2002 Spring;26(3):305-9. 137. van Bokhoven H, Hamel BC, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, Vanmolkot KR, van Beusekom E, van Beersum SE, Celli J, Merkx GF, Tenconi R, Fryns JP, Verloes A, Newbury-Ecob RA, Raas-Rotschild A, Majewski F, Beemer FA, Janecke A, Chitayat D, Crisponi G, Kayserili H, Yates JR, Neri G, Brunner HG. p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet. 2001 Sep;69(3):481-92. Epub 2001 Jul 17. 138. Onay T, Zielenski J, Topaloglu O, Gokgoz N, Kayserili H, Apak MY, Camcioglu Y, Cokugras H, Akcakaya N, Tsui LC, Kirdar B. Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients. Hum Biol. 2001 Apr;73(2):191-203. 139. Kayserili H, Cox TC, Cox LL, Basaran S, Kiliç G, Ballabio A, Yüksel-Apak M. Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS). J Med Genet. 2001 Jun;38(6):411-7. Review. No abstract available. 140. Lüdecke HJ, Schaper J, Meinecke P, Momeni P, Gross S, von Holtum D, Hirche H, Abramowicz MJ, Albrecht B, Apacik C, Christen HJ, Claussen U, Devriendt K, Fastnacht E, Forderer A, Friedrich U, Goodship TH, Greiwe M, Hamm H, Hennekam RC, Hinkel GK, Hoeltzenbein M, Kayserili H, Majewski F, Mathieu M, McLeod R, Midro AT, Moog U, Nagai T, Niikawa N, Orstavik KH, Plöchl E, Seitz C, Schmidtke J, Tranebjaerg L, Tsukahara M, Wittwer B, Zabel B, Gillessen-Kaesbach G, Horsthemke B. Genotypic and phenotypic spectrum in tricho-rhinophalangeal syndrome types I and III. Am J Hum Genet. 2001 Jan;68(1):81-91. Epub 2000 Dec 7. 141. Demuth I, Wlodarski M, Tipping AJ, Morgan NV, de Winter JP, Thiel M, Gräsl S, Schindler D, D'Andrea AD, Altay C, Kayserili H, Zatterale A, Kunze J, Ebell W, Mathew CG, Joenje H, Sperling K, Digweed M. Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9. Eur J Hum Genet. 2000 Nov;8(11):861-8. 142. Bilge I, Kayserili H, Emre S, Nayir A, Sirin A, Tukel T, Bas F, Kilic G, Basaran S, Gunoz H, Apak M. Frequency of renal malformations in Turner syndrome: analysis of 82 Turkish children. Pediatr Nephrol. 2000 Oct;14(12):1111-4. 143. Revy P, Muto T, Levy Y, Geissmann F, Plebani A, Sanal O, Catalan N, Forveille M, Dufourcq-Labelouse R, Gennery A, Tezcan I, Ersoy F, Kayserili H, Ugazio AG, Brousse N, Muramatsu M, Notarangelo LD, Kinoshita K, Honjo T, Fischer A, Durandy A. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). Cell. 2000 Sep 1;102(5):565-75. Curriculum vitae of Hülya Kayserili 20