Börklü E, Altunoğlu U, Eraslan S, Kayserili H. A New Family with a Novel OTUD6B Mutation: Practicing Whole Exome Sequencing for Antenatal Diagnosis of Tetralogy of Fallot. Mol Syndromol 2022. doi: 10.1159/000519557
Karakilic-Ozturan E, Altunoglu U, Ozturk AP, Kardelen Al AD, Yavas Abali Z, Avci S, Wollnik B, Poyrazoglu S, Bas F, Uyguner ZO, Kayserili H, Darendeliler F. Evaluation of growth, puberty, osteoporosis, and the response to long-term bisphosphonate therapy in four patients with osteoporosis-pseudoglioma syndrome. Am J Med Genet A. 2022 Apr 8. doi: 10.1002/ajmg.a.62742. Epub ahead of print. PMID: 35393770.
Motta M, Solman M, Bonnard AA, Kuechler A, Pantaleoni F, Priolo M, Chandramouli B, Coppola S, Pizzi S, Zara E, Ferilli M, Kayserili H, Onesimo R, Leoni C, Brinkmann J, Vial Y, Kamphausen SB, Thomas-Teinturier C, Guimier A, Cordeddu V, Mazzanti L, Zampino G, Chillemi G, Zenker M, Cavé H, Hertog J, Tartaglia M. Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome. Hum Mol Genet. 2022 Mar 26:ddac071. doi: 10.1093/hmg/ddac071. Epub ahead of print. PMID: 35348676.
Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Caldas Rosa ECC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban-Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Reid Sutton V, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Hum Mutat. 2022 Mar 28. doi: 10.1002/humu.24375. Epub ahead of print. PMID: 35344616.
Turgut GT, Altunoglu U, Sivrikoz TS, Toksoy G, Kalaycı T, Avcı Ş, Karaman B, Gulec C, Başaran S, Sayın GY, Kayserili H, Uyguner ZO. Functional loss of ubiquitin-specific protease 14 may lead to a novel distal arthrogryposis phenotype. Clin Genet. 2022 Apr;101(4):421-428. doi: 10.1111/cge.14117. Epub 2022 Jan 31. PMID: 35066879.
Altunoglu U, Börklü E, Shukla A, Escande-Beillard N, Ledig S, Azaklı H, Nayak SS, Eraslan S, Girisha KM, Kennerknecht I, Kayserili H. Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis. Clin Genet. 2022 Feb;101(2):221-232. doi: 10.1111/cge.14086. Epub 2021 Nov 17. PMID: 34750818.
Turgut GT, Güleç Ç, Sarac Sivrikoz T, Kale H, Karaman B, Nishimura G, Altunoglu U. Antenatal diagnostic dilemma in a pseudodominant pedigree with lamin-B receptor (LBR)-related regressive spondylometaphyseal dysplasia. Am J Med Genet A. 2022 Jan;188(1):253-258. doi: 10.1002/ajmg.a.62479. Epub 2021 Aug 31. PMID: 34467646.
Dundar M, Fahrioglu U, Yildiz SH, Bakir-Gungor B, Temel SG, Akin H, Artan S, Cora T, Sahin FI, Dursun A, Sezer O, Gurkan H, Erdogan M, Gunduz CNS, Bisgin A, Ozdemir O, Ulgenalp A, Percin EF, Yildirim ME, Tekes S, Bagis H, Yuce H, Duman N, Bozkurt G, Yararbas K, Yildirim MS, Arman A, Mihci E, Eraslan S, Altintas ZM, Aymelek HS, Ruhi HI, Tatar A, Ergoren MC, Cetin GO, Altunoglu U, Caglayan AO, Yuksel B, Ozkul Y, Saatci C, Kenanoglu S, Karasu N, Dundar B, Ozcelik F, Demir M, Siniksaran BS, Kulak H, Kiranatlioglu K, Baysal K, Kazimli U, Akalin H, Dundar A, Boz M, Bayram A, Subasioglu A, Colak FK, Karaduman N, Gunes MC, Kandemir N, Aynekin B, Emekli R, Sahin IO, Ozdemir SY, Onal MG, Senel AS, Poyrazoglu MH, Kisaarslan ANP, Gursoy S, Baskol M, Calis M, Demir H, Zararsiz GE, Erdogan MO, Elmas M, Solak M, Ulu MS, Thahir A, Aydin Z, Atasever U, Sag SO, Aliyeva L, Alemdar A, Dogan B, Erguzeloglu CO, Kaya N, Ozkinay F, Cogulu O, Durmaz A, Onay H, Karaca E, Durmaz B, Aykut A, Cilingir O, Aras BD, Gokalp EE, Arslan S, Temena A, Haziyeva K, Kocagil S, Bas H, Susam E, Keklikci AR, Sarac E, Kocak N, Nergiz S, Terzi YK, Dincer SA, Baskin ES, Genc GC, Bahadir O, Sanri A, Yigit S, Tozkir H, Yalcintepe S, Ozkayin N, Kiraz A, Balta B, Gonen GA, Kurt EE, Ceylan GG, Ceylan AC, Erten S, Bozdogan ST, Boga I, Yilmaz M, Silan F, Kocabey M, Koc A, Cankaya T, Bora E, Bozkaya OG, Ercal D, Ergun MA, Ergun SG, Duman YS, Beyazit SB, Uzel VH, Em S, Cevik MO, Eroz R, Demirtas M, Firat CK, Kabayegit ZM, Altan M, Mardan L, Sayar C, Tumer S, Turkgenc B, Karakoyun HK, Tunc B, Kuru S, Zamani A, Geckinli BB, Ates EA, Clark OA, Toylu A, Coskun M, Nur B, Bilge I, Bayramicli OU, Emmungil H, Komesli Z, Zeybel M, Gurakan F, Tasdemir M, Kebudi R, Karabulut HG, Tuncali T, Kutlay NY, Kahraman CY, Onder NB, Beyitler I, Kavukcu S, Tulay P, Tosun O, Tuncel G, Mocan G, Kale H, Uyguner ZO, Acar A, Altinay M, Erdem L; National Genetics Consortium Study. Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium. Funct Integr Genomics. 2022 Jan 31. doi: 10.1007/s10142-021-00819-3. Epub ahead of print. PMID: 35098403.
Akcan N, Uyguner O, Bas F, Altunoglu U, Toksoy G, Karaman B, Avci S, Abali ZY, Poyrazoglu S, Aghayev A, Karaman V, Bundak R, Basaran S, Darendeliler F. Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children With 46,XY DSD. J Clin Res Pediatr Endocrinol. 2022 Feb 9. doi: 10.4274/jcrpe.galenos.2021.2021-9-19. Epub ahead of print. PMID: 35135181.
Sarac Sivrikoz T, Basaran S, Has R, Karaman B, Kalelioglu IH, Kirgiz M, Altunoglu U, Yuksel A. Prenatal sonographic and cytogenetic/molecular findings of 22q11.2 microdeletion syndrome in 48 confirmed cases in a single tertiary center. Arch Gynecol Obstet. 2022 Feb;305(2):323-342. doi: 10.1007/s00404-021-06125-4. Epub 2021 Jun 18. PMID: 34145474.
Loh AYT, Špoljar S, Neo GYW, Escande-Beillard N, Leushacke M, Luijten MNH, Venkatesh B, Bonnard C, van Steensel MAM, Hamm H, Carmichael A, Rajan N, Carney TJ, Reversade B. Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome. Am J Med Genet A. 2022 Feb 25. doi: 10.1002/ajmg.a.62703. Epub ahead of print. PMID: 35212137.
2021
Sahni G, Chang SY, Meng JTC, Tan JZY, Fatien JJC, Bonnard C, Utami KH, Chan PW, Tan TT, Altunoglu U, Kayserili H, Pouladi M, Reversade B, Toh YC. A Micropatterned Human-Specific Neuroepithelial Tissue for Modeling Gene and Drug-Induced Neurodevelopmental Defects. Adv Sci (Weinh). 2021 Jan 6;8(5):2001100. doi: 10.1002/advs.202001100. Erratum in: Adv Sci (Weinh). 2021 Jul;8(13):e2101786. PMID: 33717833; PMCID: PMC7927627.
Kargapolova Y, Rehimi R, Kayserili H, Brühl J, Sofiadis K, Zirkel A, Palikyras S, Mizi A, Li Y, Yigit G, Hoischen A, Frank S, Russ N, Trautwein J, van Bon B, Gilissen C, Laugsch M, Gusmao EG, Josipovic N, Altmüller J, Nürnberg P, Längst G, Kaiser FJ, Watrin E, Brunner H, Rada-Iglesias A, Kurian L, Wollnik B, Bouazoune K, Papantonis A. Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology. Nat Commun. 2021 May 21;12(1):3014. doi: 10.1038/s41467-021-23327-1. PMID: 34021162; PMCID: PMC8140133.
Satkin NB, Karaman B, Ergin S, Kayserili H, Kalelioglu IH, Has R, Yuksel A, Basaran S. Array-comparative Genomic Hybridization Results in Clinically Affected Cases with Apparently Balanced Chromosomal Rearrangements. Balkan J Med Genet. 2021 Mar 23;23(2):25-34. doi: 10.2478/bjmg-2020-0026. PMID: 33816069; PMCID: PMC8009573.
Al Sayed ZR, Canac R, Cimarosti B, Bonnard C, Gourraud JB, Hamamy H, Kayserili H, Girardeau A, Jouni M, Jacob N, Gaignerie A, Chariau C, David L, Forest V, Marionneau C, Charpentier F, Loussouarn G, Lamirault G, Reversade B, Zibara K, Lemarchand P, Gaborit N. Human model of IRX5 mutations reveals key role for this transcription factor in ventricular conduction. Cardiovasc Res. 2021 Jul 27;117(9):2092-2107. doi: 10.1093/cvr/cvaa259. PMID: 32898233.
Berkay EG, Elkanova L, Kalaycı T, Uludağ Alkaya D, Altunoğlu U, Cefle K, Mıhçı E, Nur B, Taşdelen E, Bayramoğlu Z, Karaman V, Toksoy G, Güneş N, Öztürk Ş, Palandüz Ş, Kayserili H, Tüysüz B, Uyguner ZO. Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey. Am J Med Genet A. 2021 Aug;185(8):2488-2495. doi: 10.1002/ajmg.a.62261. Epub 2021 May 13. PMID: 33987976.
Çepni E, Satkın NB, Moheb LA, Rocha ME, Kayserili H. Biallelic TERT variant leads to Hoyeraal-Hreidarsson syndrome with additional dyskeratosis congenita findings. Am J Med Genet A. 2021 Dec 9. doi: 10.1002/ajmg.a.62602. Epub ahead of print. PMID: 34890115.
Adami E, Viswanathan S, Widjaja AA, Ng B, Chothani S, Zhihao N, Tan J, Lio PM, George BL, Altunoglu U, Ghosh K, Paleja BS, Schafer S, Reversade B, Albani S, Ling ALH, O’Reilly S, Cook SA. IL11 is elevated in systemic sclerosis and IL11-dependent ERK signalling underlies TGFβ-mediated activation of dermal fibroblasts. Rheumatology (Oxford). 2021 Dec 1;60(12):5820-5826. doi: 10.1093/rheumatology/keab168. PMID: 33590875; PMCID: PMC8645270.
Karabekmez ME, Taymaz-Nikerel H, Eraslan S, Kirdar B. Time-dependent re-organization of biological processes by the analysis of the dynamic transcriptional response of yeast cells to doxorubicin. Mol Omics. 2021 Aug 9;17(4):572-582. doi: 10.1039/d1mo00046b. PMID: 34095940.
Kelekçi S, Uğurlu-Çimen D, Demir AB, Özçimen B, Burak Yıldız A, Batuhan Karakuş M, Börklü Yücel E, Önder TT. Generation of transgene-free iPSC lines from three patients with Friedreich’s ataxia (FRDA) carrying GAA triplet expansions in the first intron of FXN gene. Stem Cell Res. 2021 Jul;54:102438. doi: 10.1016/j.scr.2021.102438. Epub 2021 Jun 27. PMID: 34214898.
Bhatia NS, Lim JY, Bonnard C, Kuan JL, Brett M, Wei H, Cham B, Chin H, Bosso-Lefevre C, Dharuman P, Escande-Beillard N, Devasia AG, Goh CYJ, Kam S, Liew WK, Liew WK, Lin G, Jain K, Ng AY, Subramanian D, Xie M, Tan YM, Tawari NR, Tiang Z, Ting TW, Tohari S, Tong CK, Lezhava A, Ng SB, Law HY, Venkatesh B, Tomar S, Sethi R, Tan G, Shanmugasundaram A, Goh DL, Lai PS, Lai A, Tan ES, Ng I, Reversade B, Tan EC, Foo R, Jamuar SS; SUREKids Working Group. Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management. Arch Dis Child. 2021 Jan;106(1):31-37. doi: 10.1136/archdischild-2020-319180. Epub 2020 Aug 20. PMID: 32819910.
Masri A, Shboul M, Khasawneh A, Jadallah R, ALmustafa A, Escande-Beillard N, Hamamy H, Bakri F, Reversade B. Congenital insensitivity to pain with anhidrosis syndrome: A series from Jordan. Clin Neurol Neurosurg. 2020 Feb;189:105636. doi: 10.1016/j.clineuro.2019.105636. Epub 2019 Dec 9. PMID: 31841741.
Ding Z, Ericksen RE, Escande-Beillard N, Lee QY, Loh A, Denil S, Steckel M, Haegebarth A, Wai Ho TS, Chow P, Toh HC, Reversade B, Gruenewald S, Han W. Metabolic pathway analyses identify proline biosynthesis pathway as a promoter of liver tumorigenesis. J Hepatol. 2020 Apr;72(4):725-735. doi: 10.1016/j.jhep.2019.10.026. Epub 2019 Nov 11. PMID: 31726117.
Serey-Gaut M, Scala M, Reversade B, Ruaud L, Cabrol C, Musacchia F, Torella A, Accogli A, Escande-Beillard N, Langlais J, Piatelli G, Consales A, Nigro V, Capra V, Van Maldergem L. Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity. Am J Med Genet A. 2020 Jun;182(6):1466-1472. doi: 10.1002/ajmg.a.61549. Epub 2020 Mar 25. PMID: 32212228.
2020
Elouej S, Harhouri K, Le Mao M, Baujat G, Nampoothiri S, Kayserili H, Menabawy NA, Selim L, Paneque AL, Kubisch C, Lessel D, Rubinsztajn R, Charar C, Bartoli C, Airault C, Deleuze JF, Rötig A, Bauer P, Pereira C, Loh A, Escande-Beillard N, Muchir A, Martino L, Gruenbaum Y, Lee SH, Manivet P, Lenaers G, Reversade B, Lévy N, De Sandre-Giovannoli A. Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology. Nat Commun. 2020 Sep 11;11(1):4589. doi: 10.1038/s41467-020-18146-9. Erratum in: Nat Commun. 2020 Oct 19;11(1):5349. PMID: 32917887; PMCID: PMC7486921.
Escande-Beillard N, Loh A, Saleem SN, Kanata K, Hashimoto Y, Altunoglu U, Metoska A, Grandjean J, Ng FM, Pomp O, Baburajendran N, Wong J, Hill J, Beillard E, Cozzone P, Zaki M, Kayserili H, Hamada H, Shiratori H, Reversade B. Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2. Neuron. 2020 Jul 8;107(1):82-94.e6. doi: 10.1016/j.neuron.2020.03.028. Epub 2020 Apr 23. PMID: 32330411.
Börklü-Yücel E, Demiriz Ç, Avcı Ş, Vanlı-Yavuz EN, Eraslan S, Oflazer P, Kayserili H. Clinical exome sequencing in neuromuscular diseases: an experience from Turkey. Neurol Sci. 2020 Aug;41(8):2157-2164. doi: 10.1007/s10072-020-04304-w. Epub 2020 Mar 5. PMID: 32140910.
Kunz F, Kayserili H, Midro A, de Silva D, Basnayake S, Güven Y, Borys J, Schanze D, Stellzig-Eisenhauer A, Bloch-Zupan A, Zenker M. Characteristic dental pattern with hypodontia and short roots in Fraser syndrome. Am J Med Genet A. 2020 Jul;182(7):1681-1689. doi: 10.1002/ajmg.a.61610. Epub 2020 Jun 2. PMID: 32488952.
Toksoy G, Uludağ Alkaya D, Bagirova G, Avcı Ş, Aghayev A, Günes N, Altunoğlu U, Alanay Y, Başaran S, Berkay EG, Karaman B, Celkan TT, Apak H, Kayserili H, Tüysüz B, Uyguner ZO. Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey. Mol Syndromol. 2020 Nov;11(4):183-196. doi: 10.1159/000509838. Epub 2020 Sep 23. PMID: 33224012; PMCID: PMC7675230.
Bonnard C, Navaratnam N, Ghosh K, Chan PW, Tan TT, Pomp O, Ng AYJ, Tohari S, Changede R, Carling D, Venkatesh B, Altunoglu U, Kayserili H, Reversade B. A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling. J Exp Med. 2020 Dec 7;217(12):e20191561. doi: 10.1084/jem.20191561. PMID: 32845958; PMCID: PMC7953732.
Palencia-Campos A, Martínez-Fernández ML, Altunoglu U, Soto-Bielicka P, Torres A, Marín P, Aller E, Şentürk L, Berköz Ö, Yıldıran M, Kayserili H, Gil-Camarero E, Colli-Lista G, Sanchís-Calvo A, Carretero A; ECEMC Working Group on Polydactyly, Guillén-Navarro E, López-González V, Ballesta-Martínez M, Rosell J, Aglan MS, Temtamy S, Otaify GA, Cuevas-Catalina L, Torres-Saavedra MN, Nevado J, Tenorio J, Lapunzina P, Bermejo-Sánchez E, Ruiz-Pérez VL. Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B. Hum Mutat. 2020 Jan;41(1):265-276. doi: 10.1002/humu.23921. Epub 2019 Nov 6. PMID: 31549748.
Eren İ, Birsel O, Öztop Çakmak Ö, Aslanger A, Gürsoy Özdemir Y, Eraslan S, Kayserili H, Oflazer P, Demirhan M. A novel shoulder disability staging system for scapulothoracic arthrodesis in patients with facioscapulohumeral dystrophy. Orthop Traumatol Surg Res. 2020 Jun;106(4):701-707. doi: 10.1016/j.otsr.2020.03.002. Epub 2020 May 16. PMID: 32430271.
Senbabaoglu F, Aksu AC, Cingoz A, Seker-Polat F, Borklu-Yucel E, Solaroglu İ, Bagci-Onder T. Drug Repositioning Screen on a New Primary Cell Line Identifies Potent Therapeutics for Glioblastoma. Front Neurosci. 2020 Dec 17;14:578316. doi: 10.3389/fnins.2020.578316. PMID: 33390879; PMCID: PMC7773901.
Oc S, Eraslan S, Kirdar B. Dynamic transcriptional response of Saccharomyces cerevisiae cells to copper. Sci Rep. 2020 Oct 28;10(1):18487. doi: 10.1038/s41598-020-75511-w. PMID: 33116258; PMCID: PMC7595141.
Taymaz-Nikerel H, Eraslan S, Kırdar B. Insights Into the Mechanism of Anticancer Drug Imatinib Revealed Through Multi-Omic Analyses in Yeast. OMICS. 2020 Nov;24(11):667-678. doi: 10.1089/omi.2020.0144. Epub 2020 Sep 29. PMID: 32991258.
2019
Colak U, Mutlu GY, Sozmen BO, Yucel EB, Kayserili H, Hatun S. Zoledronate-responsive calcitriol-mediated hypercalcemia in a 5-year-old case with squamous cell carcinoma on the background of xeroderma pigmentosum. J Pediatr Endocrinol Metab. 2019 Dec 18;32(12):1403-1406. doi: 10.1515/jpem-2019-0158. PMID: 31782950.
Vandervore LV, Schot R, Milanese C, Smits DJ, Kasteleijn E, Fry AE, Pilz DT, Brock S, Börklü-Yücel E, Post M, Bahi-Buisson N, Sánchez-Soler MJ, van Slegtenhorst M, Keren B, Afenjar A, Coury SA, Tan WH, Oegema R, de Vries LS, Fawcett KA, Nikkels PGJ, Bertoli-Avella A, Al Hashem A, Alwabel AA, Tlili-Graiess K, Efthymiou S, Zafar F, Rana N, Bibi F, Houlden H, Maroofian R, Person RE, Crunk A, Savatt JM, Turner L, Doosti M, Karimiani EG, Saadi NW, Akhondian J, Lequin MH, Kayserili H, van der Spek PJ, Jansen AC, Kros JM, Verdijk RM, Milošević NJ, Fornerod M, Mastroberardino PG, Mancini GMS. TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities. Am J Hum Genet. 2019 Dec 5;105(6):1126-1147. doi: 10.1016/j.ajhg.2019.10.009. Epub 2019 Nov 14. PMID: 31735293; PMCID: PMC6904804.
Toksoy G, Durmus H, Aghayev A, Bagirova G, Sevinc Rustemoglu B, Basaran S, Avci S, Karaman B, Parman Y, Altunoglu U, Yapici Z, Tekturk P, Deymeer F, Topaloglu H, Kayserili H, Oflazer-Serdaroglu P, Uyguner ZO. Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling. Neuromuscul Disord. 2019 Aug;29(8):601-613. doi: 10.1016/j.nmd.2019.03.012. Epub 2019 Mar 28. PMID: 31443951.
Kruszka P, Berger SI, Casa V, Dekker MR, Gaesser J, Weiss K, Martinez AF, Murdock DR, Louie RJ, Prijoles EJ, Lichty AW, Brouwer OF, Zonneveld-Huijssoon E, Stephan MJ, Hogue J, Hu P, Tanima-Nagai M, Everson JL, Prasad C, Cereda A, Iascone M, Schreiber A, Zurcher V, Corsten-Janssen N, Escobar L, Clegg NJ, Delgado MR, Hajirnis O, Balasubramanian M, Kayserili H, Deardorff M, Poot RA, Wendt KS, Lipinski RJ, Muenke M. Cohesin complex-associated holoprosencephaly. Brain. 2019 Sep 1;142(9):2631-2643. doi: 10.1093/brain/awz210. PMID: 31334757; PMCID: PMC7245359.
Fellmann F, van El CG, Charron P, Michaud K, Howard HC, Boers SN, Clarke AJ, Duguet AM, Forzano F, Kauferstein S, Kayserili H, Lucassen A, Mendes Á, Patch C, Radojkovic D, Rial-Sebbag E, Sheppard MN, Tassé AM, Temel SG, Sajantila A, Basso C, Wilde AAM, Cornel MC; on behalf of European Society of Human Genetics, European Council of Legal Medicine, European Society of Cardiology working group on myocardial and pericardial diseases, European Reference Network for rare, low prevalence and complex diseases of the heart (ERN GUARD-Heart), Association for European Cardiovascular Pathology. European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death. Eur J Hum Genet. 2019 Dec;27(12):1763-1773. doi: 10.1038/s41431-019-0445-y. Epub 2019 Jun 24. PMID: 31235869; PMCID: PMC6870982.
Güven Y, Bal E, Altunoglu U, Yücel E, Hadj-Rabia S, Koruyucu M, Bahar Tuna E, Çıldır Ş, Aktören O, Bodemer C, Uyguner ZO, Smahi A, Kayserili H. Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families. Cytogenet Genome Res. 2019;157(4):189-196. doi: 10.1159/000499325. Epub 2019 Apr 12. PMID: 30974434.
Guillemyn B, Kayserili H, Demuynck L, Sips P, De Paepe A, Syx D, Coucke PJ, Malfait F, Symoens S. A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta. Hum Mol Genet. 2019 Jun 1;28(11):1801-1809. doi: 10.1093/hmg/ddz017. PMID: 30657919.
Azakli H, Akkaya AD, Aygün MS, Demirkesen C, Eraslan S, Kayserili H. Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings. Am J Med Genet A. 2019 Jan;179(1):123-129. doi: 10.1002/ajmg.a.60686. Epub 2018 Dec 18. PMID: 30561107.
Howaldt A, Nampoothiri S, Quell LM, Ozden A, Fischer-Zirnsak B, Collet C, de Vernejoul MC, Doneray H, Kayserili H, Kornak U. Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1. Bone. 2019 Mar;120:495-503. doi: 10.1016/j.bone.2018.12.002. Epub 2018 Dec 8. PMID: 30537558.
Rad A, Altunoglu U, Miller R, Maroofian R, James KN, Çağlayan AO, Najafi M, Stanley V, Boustany RM, Yeşil G, Sahebzamani A, Ercan-Sencicek G, Saeidi K, Wu K, Bauer P, Bakey Z, Gleeson JG, Hauser N, Gunel M, Kayserili H, Schmidts M. MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). J Med Genet. 2019 May;56(5):332-339. doi: 10.1136/jmedgenet-2018-105623. Epub 2018 Nov 28. PMID: 30487245; PMCID: PMC6581149.
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 Jun;21(6):1295-1307. doi: 10.1038/s41436-018-0330-z. Epub 2018 Nov 8. Erratum in: Genet Med. 2019 Jan 29;: PMID: 30349098; PMCID: PMC6752273.
Toksoy G, Durmus H, Aghayev A, Bagirova G, Sevinc Rustemoglu B, Basaran S, Avci S, Karaman B, Parman Y, Altunoglu U, Yapici Z, Tekturk P, Deymeer F, Topaloglu H, Kayserili H, Oflazer-Serdaroglu P, Uyguner ZO. Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling. Neuromuscul Disord. 2019 Aug;29(8):601-613. doi: 10.1016/j.nmd.2019.03.012. Epub 2019 Mar 28. PMID: 31443951.
Carrieri D, Howard HC, Benjamin C, Clarke AJ, Dheensa S, Doheny S, Hawkins N, Halbersma-Konings TF, Jackson L, Kayserili H, Kelly SE, Lucassen AM, Mendes Á, Rial-Sebbag E, Stefánsdóttir V, Turnpenny PD, van El CG, van Langen IM, Cornel MC, Forzano F; European Society of Human Genetics. Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics. Eur J Hum Genet. 2019 Feb;27(2):169-182. doi: 10.1038/s41431-018-0285-1. Epub 2018 Oct 11. PMID: 30310124; PMCID: PMC6336881.
Schrauwen I, Valgaeren H, Tomas-Roca L, Sommen M, Altunoglu U, Wesdorp M, Beyens M, Fransen E, Nasir A, Vandeweyer G, Schepers A, Rahmoun M, van Beusekom E, Huentelman MJ, Offeciers E, Dhooghe I, Huber A, Van de Heyning P, Zanetti D, De Leenheer EMR, Gilissen C, Hoischen A, Cremers CW, Verbist B, de Brouwer APM, Padberg GW, Pennings R, Kayserili H, Kremer H, Van Camp G, van Bokhoven H. Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis. Genet Med. 2019 May;21(5):1199-1208. doi: 10.1038/s41436-018-0300-5. Epub 2018 Oct 5. PMID: 30287925.
2018
Lehalle D, Altunoglu U, Bruel AL, Assoum M, Duffourd Y, Masurel A, Baujat G, Bessieres B, Captier G, Edery P, Elçioğlu NH, Geneviève D, Goldenberg A, Héron D, Grotto S, Marlin S, Putoux A, Rossi M, Saugier-Veber P, Triau S, Cabrol C, Vézain M, Vincent-Delorme C, Thauvin-Robinet C, Thevenon J, Vabres P, Callier P, Kayserili H, Faivre L. The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance. Am J Med Genet A. 2018 Dec;176(12):2740-2750. doi: 10.1002/ajmg.a.40662. Epub 2018 Dec 10. PMID: 30548201.
Cakmak ÖÖ , Eren I , Aslanger A , Günerbüyük C , Kayserili H , Oflazer P , Sar C , Demirhan M , Özdemir YG . A multidisciplinary clinical approach to facioscapulohumeral muscular dystrophy. Ideggyogy Sz. 2018 Sep 30;71(9-10):337-342. English. doi: 10.18071/isz.71.0337. PMID: 30335266.
Karaman B, Kayserili H, Ghanbari A, Uyguner ZO, Toksoy G, Altunoglu U, Basaran S. Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases. Mol Cytogenet. 2018 Aug 17;11:45. doi: 10.1186/s13039-018-0395-z. PMID: 30140312; PMCID: PMC6098576.
Du R, Dinckan N, Song X, Coban-Akdemir Z, Jhangiani SN, Guven Y, Aktoren O, Kayserili H, Petty LE, Muzny DM, Below JE, Boerwinkle E, Wu N, Gibbs RA, Posey JE, Lupski JR, Letra A, Uyguner ZO. Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. Hum Genet. 2018 Sep;137(9):689-703. doi: 10.1007/s00439-018-1907-y. Epub 2018 Jul 26. PMID: 30046887; PMCID: PMC6165673.
Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakçalan H, Yılmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, Kayserili H, Mojahedi F, Kara M, Cai N, Silhavy JL, Elsharif S, Fenercioglu E, Barshop BA, Kara B, Wang R, Stanley V, James KN, Nachnani R, Kalur A, Megahed H, Incecik F, Danda S, Alanay Y, Faqeih E, Melikishvili G, Mansour L, Miller I, Sukhudyan B, Chelly J, Dobyns WB, Bilguvar K, Jamra RA, Gunel M, Gleeson JG. Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nat Genet. 2018 Aug;50(8):1093-1101. doi: 10.1038/s41588-018-0166-0. Epub 2018 Jul 16. PMID: 30013181; PMCID: PMC6072555.
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. PMID: 30006632; PMCID: PMC6189044.
Szenker-Ravi E, Altunoglu U, Leushacke M, Bosso-Lefèvre C, Khatoo M, Thi Tran H, Naert T, Noelanders R, Hajamohideen A, Beneteau C, de Sousa SB, Karaman B, Latypova X, Başaran S, Yücel EB, Tan TT, Vlaminck L, Nayak SS, Shukla A, Girisha KM, Le Caignec C, Soshnikova N, Uyguner ZO, Vleminckx K, Barker N, Kayserili H, Reversade B. RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6. Nature. 2018 May;557(7706):564-569. doi: 10.1038/s41586-018-0118-y. Epub 2018 May 16. Erratum in: Nature. 2018 Sep;561(7722):E7. PMID: 29769720.
Sirchia F, Carrieri D, Dheensa S, Benjamin C, Kayserili H, Cordier C, van El CG, Turnpenny PD, Melegh B, Mendes Á, Halbersma-Konings TF, van Langen IM, Lucassen AM, Clarke AJ, Forzano F, Kelly SE. Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe. Eur J Hum Genet. 2018 Jul;26(7):946-954. doi: 10.1038/s41431-018-0131-5. Epub 2018 Apr 23. PMID: 29681620; PMCID: PMC6018700.
Dinckan N, Du R, Akdemir ZC, Bayram Y, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM, Guven Y, Aktoren O, Kayserili H, Boerwinkle E, Gibbs RA, Posey JE, Lupski JR, Uyguner ZO, Letra A. A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. Am J Med Genet A. 2018 Apr;176(4):1015-1022. doi: 10.1002/ajmg.a.38625. Epub 2018 Feb 13. PMID: 29436111; PMCID: PMC5933053.
Kievit A, Tessadori F, Douben H, Jordens I, Maurice M, Hoogeboom J, Hennekam R, Nampoothiri S, Kayserili H, Castori M, Whiteford M, Motter C, Melver C, Cunningham M, Hing A, Kokitsu-Nakata NM, Vendramini-Pittoli S, Richieri-Costa A, Baas AF, Breugem CC, Duran K, Massink M, Derksen PWB, van IJcken WFJ, van Unen L, Santos-Simarro F, Lapunzina P, Gil-da Silva Lopes VL, Lustosa-Mendes E, Krall M, Slavotinek A, Martinez-Glez V, Bakkers J, van Gassen KLI, de Klein A, van den Boogaard MH, van Haaften G. Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome. Eur J Hum Genet. 2018 Feb;26(2):210-219. doi: 10.1038/s41431-017-0010-5. Epub 2018 Jan 18. PMID: 29348693; PMCID: PMC5838974.
Dinckan N, Du R, Petty LE, Coban-Akdemir Z, Jhangiani SN, Paine I, Baugh EH, Erdem AP, Kayserili H, Doddapaneni H, Hu J, Muzny DM, Boerwinkle E, Gibbs RA, Lupski JR, Uyguner ZO, Below JE, Letra A. Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis. J Dent Res. 2018 Jan;97(1):49-59. doi: 10.1177/0022034517724149. Epub 2017 Aug 16. PMID: 28813618; PMCID: PMC6728545.
2017
Lehalle D, Altunoglu U, Bruel AL, Arnaud E, Blanchet P, Choi JW, Désir J, Kiliç E, Lederer D, Pinson L, Thauvin-Robinet C, Singer A, Thevenon J, Callier P, Kayserili H, Faivre L. Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients. Am J Med Genet A. 2017 Dec;173(12):3136-3142. doi: 10.1002/ajmg.a.38490. PMID: 29136349.
Engin G, Eraslan S, Kayserili H, Kapran Y, Akman H, Akyuz A, Aykan NF. Imatinib response of gastrointestinal stromal tumor patients with germline mutation on KIT exon 13: A family report. World J Radiol. 2017 Sep 28;9(9):365-370. doi: 10.4329/wjr.v9.i9.365. PMID: 29098070; PMCID: PMC5658632.
Uysal F, Turkgenc B, Toksoy G, Bostan OM, Evke E, Uyguner O, Yakicier C, Kayserili H, Cil E, Temel SG. “Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports”. BMC Med Genet. 2017 Oct 16;18(1):114. doi: 10.1186/s12881-017-0474-8. PMID: 29037160; PMCID: PMC5644177.
Palencia-Campos A, Ullah A, Nevado J, Yildirim R, Unal E, Ciorraga M, Barruz P, Chico L, Piceci-Sparascio F, Guida V, De Luca A, Kayserili H, Ullah I, Burmeister M, Lapunzina P, Ahmad W, Morales AV, Ruiz-Perez VL. GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome. Hum Mol Genet. 2017 Dec 1;26(23):4556-4571. doi: 10.1093/hmg/ddx335. PMID: 28973407.
Windpassinger C, Piard J, Bonnard C, Alfadhel M, Lim S, Bisteau X, Blouin S, Ali NB, Ng AYJ, Lu H, Tohari S, Talib SZA, van Hul N, Caldez MJ, Van Maldergem L, Yigit G, Kayserili H, Youssef SA, Coppola V, de Bruin A, Tessarollo L, Choi H, Rupp V, Roetzer K, Roschger P, Klaushofer K, Altmüller J, Roy S, Venkatesh B, Ganger R, Grill F, Ben Chehida F, Wollnik B, Altunoglu U, Al Kaissi A, Reversade B, Kaldis P. CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays. Am J Hum Genet. 2017 Sep 7;101(3):391-403. doi: 10.1016/j.ajhg.2017.08.003. PMID: 28886341; PMCID: PMC5591019.
Acuna-Hidalgo R, Deriziotis P, Steehouwer M, Gilissen C, Graham SA, van Dam S, Hoover-Fong J, Telegrafi AB, Destree A, Smigiel R, Lambie LA, Kayserili H, Altunoglu U, Lapi E, Uzielli ML, Aracena M, Nur BG, Mihci E, Moreira LM, Borges Ferreira V, Horovitz DD, da Rocha KM, Jezela-Stanek A, Brooks AS, Reutter H, Cohen JS, Fatemi A, Smitka M, Grebe TA, Di Donato N, Deshpande C, Vandersteen A, Marques Lourenço C, Dufke A, Rossier E, Andre G, Baumer A, Spencer C, McGaughran J, Franke L, Veltman JA, De Vries BB, Schinzel A, Fisher SE, Hoischen A, van Bon BW. Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. PLoS Genet. 2017 Mar 27;13(3):e1006683. doi: 10.1371/journal.pgen.1006683. PMID: 28346496; PMCID: PMC5386295.
Bal E, Park HS, Belaid-Choucair Z, Kayserili H, Naville M, Madrange M, Chiticariu E, Hadj-Rabia S, Cagnard N, Kuonen F, Bachmann D, Huber M, Le Gall C, Côté F, Hanein S, Rosti RÖ, Aslanger AD, Waisfisz Q, Bodemer C, Hermine O, Morice-Picard F, Labeille B, Caux F, Mazereeuw-Hautier J, Philip N, Levy N, Taieb A, Avril MF, Headon DJ, Gyapay G, Magnaldo T, Fraitag S, Crollius HR, Vabres P, Hohl D, Munnich A, Smahi A. Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas. Nat Med. 2017 Oct;23(10):1226-1233. doi: 10.1038/nm.4368. Epub 2017 Sep 4. PMID: 28869610.
Rosti RO, Sotak BN, Bielas SL, Bhat G, Silhavy JL, Aslanger AD, Altunoglu U, Bilge I, Tasdemir M, Yzaguirrem AD, Musaev D, Infante S, Thuong W, Marin-Valencia I, Nelson SF, Kayserili H, Gleeson JG. Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. J Med Genet. 2017 Jun;54(6):399-403. doi: 10.1136/jmedgenet-2016-104237. Epub 2017 Mar 9. PMID: 28280135.
Mendes MI, Smith DE, Pop A, Lennertz P, Fernandez Ojeda MR, Kanhai WA, van Dooren SJ, Anikster Y, Barić I, Boelen C, Campistol J, de Boer L, Kariminejad A, Kayserili H, Roubertie A, Verbruggen KT, Vianey-Saban C, Williams M, Salomons GS. Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity. Hum Mutat. 2017 May;38(5):524-531. doi: 10.1002/humu.23181. Epub 2017 Feb 14. PMID: 28101991; PMCID: PMC5412892.
Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, Çağlayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG. Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nat Genet. 2017 Mar;49(3):457-464. doi: 10.1038/ng.3762. Epub 2017 Jan 16. PMID: 28092684; PMCID: PMC5325768.
Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo AS, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B. De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. Nat Genet. 2017 Feb;49(2):249-255. doi: 10.1038/ng.3765. Epub 2017 Jan 9. PMID: 28067911.
Dinçsoy Bir F, Dinçkan N, Güven Y, Baş F, Altunoğlu U, Kuvvetli SS, Poyrazoğlu Ş, Toksoy G, Kayserili H, Uyguner ZO. Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families. Eur J Med Genet. 2017 Mar;60(3):163-168. doi: 10.1016/j.ejmg.2016.12.007. Epub 2016 Dec 24. PMID: 28027977.
2016
Bögershausen N, Altunoglu U, Beleggia F, Yigit G, Kayserili H, Nürnberg P, Li Y, Altmüller J, Wollnik B. An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity. Am J Med Genet A. 2016 Dec;170(12):3282-3288. doi: 10.1002/ajmg.a.37931. Epub 2016 Aug 17. PMID: 27530281.
Hasegawa S, Victoria T, Kayserili H, Zackai E, Nishimura G, Haga N, Nakashima Y, Miyazaki O, Kitoh H. Characteristic calcaneal ossification: an additional early radiographic finding in infants with fibrodysplasia ossificans progressiva. Pediatr Radiol. 2016 Oct;46(11):1568-72. doi: 10.1007/s00247-016-3662-3. Epub 2016 Aug 4. PMID: 27492340.
Cain CJ, Gaborit N, Lwin W, Barruet E, Ho S, Bonnard C, Hamamy H, Shboul M, Reversade B, Kayserili H, Bruneau BG, Hsiao EC. Loss of Iroquois homeobox transcription factors 3 and 5 in osteoblasts disrupts cranial mineralization. Bone Rep. 2016 Apr 13;5:86-95. doi: 10.1016/j.bonr.2016.02.005. PMID: 27453922; PMCID: PMC4926823.
Scott EM, Halees A, Itan Y, Spencer EG, He Y, Azab MA, Gabriel SB, Belkadi A, Boisson B, Abel L, Clark AG; Greater Middle East Variome Consortium, Alkuraya FS, Casanova JL, Gleeson JG. Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. Nat Genet. 2016 Sep;48(9):1071-6. doi: 10.1038/ng.3592. Epub 2016 Jul 18. PMID: 27428751; PMCID: PMC5019950.
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. PMID: 27302555.
Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, Hori M, Hüning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gecz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SM. TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. Neurology. 2016 Jul 5;87(1):77-85. doi: 10.1212/WNL.0000000000002807. Epub 2016 Jun 8. PMID: 27281533; PMCID: PMC4932231.
Roosing S, Romani M, Isrie M, Rosti RO, Micalizzi A, Musaev D, Mazza T, Al-Gazali L, Altunoglu U, Boltshauser E, D’Arrigo S, De Keersmaecker B, Kayserili H, Brandenberger S, Kraoua I, Mark PR, McKanna T, Van Keirsbilck J, Moerman P, Poretti A, Puri R, Van Esch H, Gleeson JG, Valente EM. Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. J Med Genet. 2016 Sep;53(9):608-15. doi: 10.1136/jmedgenet-2016-103832. Epub 2016 May 6. PMID: 27208211; PMCID: PMC5013089.
Akinci B, Onay H, Demir T, Ozen S, Kayserili H, Akinci G, Nur B, Tuysuz B, Nuri Ozbek M, Gungor A, Yildirim Simsir I, Altay C, Demir L, Simsek E, Atmaca M, Topaloglu H, Bilen H, Atmaca H, Atik T, Cavdar U, Altunoglu U, Aslanger A, Mihci E, Secil M, Saygili F, Comlekci A, Garg A. Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey. J Clin Endocrinol Metab. 2016 Jul;101(7):2759-67. doi: 10.1210/jc.2016-1005. Epub 2016 May 4. PMID: 27144933; PMCID: PMC7958923.
Baykal C, Sari SO, Uyguner ZO, Ekinci AP, Demir O, Babuna G, Buyukbabani N, Kayserili H. Ungual squamous cell carcinoma in a patient with Mal de Meleda. J Dtsch Dermatol Ges. 2016 May;14(5):514-6. doi: 10.1111/ddg.12865. PMID: 27119475.
Saraç Sivrikoz T, Altunoglu U, Kalelioglu İH, Yüksel A, Uyguner OZ, Has R, Kayserili H. ALX4 related parietal foramina mimicking encephalocele in prenatal period. Prenat Diagn. 2016 Jun;36(6):591-3. doi: 10.1002/pd.4826. Epub 2016 May 17. PMID: 27080046.
Kayserili H, Altunoglu U, Yesil G, Rosti RÖ. Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients. Am J Med Genet A. 2016 Jun;170(6):1391-9. doi: 10.1002/ajmg.a.37652. Epub 2016 Apr 13. PMID: 27075597.
Oud MM, Bonnard C, Mans DA, Altunoglu U, Tohari S, Ng AYJ, Eskin A, Lee H, Rupar CA, de Wagenaar NP, Wu KM, Lahiry P, Pazour GJ, Nelson SF, Hegele RA, Roepman R, Kayserili H, Venkatesh B, Siu VM, Reversade B, Arts HH. A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome. Cilia. 2016 Apr 11;5:8. doi: 10.1186/s13630-016-0029-1. PMID: 27069622; PMCID: PMC4827216.
2015
Henneman L, Borry P, Chokoshvili D, Cornel MC, van El CG, Forzano F, Hall A, Howard HC, Janssens S, Kayserili H, Lakeman P, Lucassen A, Metcalfe SA, Vidmar L, de Wert G, Dondorp WJ, Peterlin B. Responsible implementation of expanded carrier screening. Eur J Hum Genet. 2016 Jun;24(6):e1-e12. doi: 10.1038/ejhg.2015.271. Epub 2016 Mar 16. Erratum in: Eur J Hum Genet. 2017 Nov;25(11):1291. PMID: 26980105; PMCID: PMC4867464.
Atik T, Koparir A, Bademci G, Foster J 2nd, Altunoglu U, Mutlu GY, Bowdin S, Elcioglu N, Tayfun GA, Atik SS, Ozen M, Ozkinay F, Alanay Y, Kayserili H, Thiel S, Tekin M. Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome. Orphanet J Rare Dis. 2015 Sep 30;10:128. doi: 10.1186/s13023-015-0345-3. PMID: 26419238; PMCID: PMC4589207.
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;125(9):3585-99. doi: 10.1172/JCI80102. Epub 2015 Aug 17. PMID: 26280580; PMCID: PMC4588287.
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; UK10K, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun. 2015 Jun 5;6:7074. doi: 10.1038/ncomms8074. Erratum in: Nat Commun. 2016;7:11270. PMID: 26044572; PMCID: PMC4468853.
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 Jun;36(6):593-8. doi: 10.1002/humu.22795. Epub 2015 Apr 21. Erratum in: Hum Mutat. 2015 Nov;36(11):1112. PMID: 25824905.
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. PMID: 25817016; PMCID: PMC4385180.