Dr. Gökhan Yigit

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  • 2022 | Journal Article | 
    ​ ​Schmidt J, Dreha-Kulaczewski S, Zafeiriou MP, Schreiber, Marie-Kristin, Wilken B, Funke R, et al. ​Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum​. ​​Frontiers in Cell and Developmental Biology. ​2022;​10​. ​doi:10.3389/fcell.2022.1025332. 
    ​Details  DOI  PMID  PMC 
  • 2022 | Journal Article | Research Paper | 
    ​ ​Bögershausen N, Krawczyk HE, Jamra RA, Lin S, Yigit G, Hüning I, et al. ​WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly​. ​​Human Mutation. ​2022;​43​(10):​​1454​-1471​. ​doi:10.1002/humu.24430. 
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  • 2022 | Journal Article | Research Paper | 
    ​ ​Shomroni O, Sitte M, Schmidt J, Parbin S, Ludewig F, Yigit G, et al. ​A novel single-cell RNA-sequencing approach and its applicability connecting genotype to phenotype in ageing disease​. ​​Scientific Reports. ​2022;​12​(1). ​doi:10.1038/s41598-022-07874-1. 
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  • 2021 | Journal Article
    ​ ​Gangfuß A, Yigit G, Altmüller J, Nürnberg P, Czeschik JC, Wollnik B, et al. ​Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study​. ​​American Journal of Medical Genetics Part A. ​2021;​185​(4):​​1216​-1221​. ​doi:10.1002/ajmg.a.62070. 
    ​Details  DOI 
  • 2021 | Journal Article | Research Paper | 
    ​ ​Iqbal M, Maroofian R, Çavdarlı B, Riccardi F, Field M, Banka S, et al. ​Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies​. ​​Genetics in Medicine. ​2021;. ​doi:10.1038/s41436-021-01260-4. 
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  • 2020 | Journal Article
    ​ ​Stromiedel H, Van Quekelberghe C, Yigit G, Naimi AA, Bahlmann F, Sader R, et al. ​Neugeborenes mit Nasenagenesie: Neonatologische Herausforderungen bei der Versorgung eines Neugeborenen mit Bosma-Arhinie-Mikrophthalmie-Syndrom (BAMS)​. ​​Zeitschrift für Geburtshilfe und Neonatologie. ​2020;​224​(06):​​377​-380​. ​doi:10.1055/a-1224-4465. 
    ​Details  DOI 
  • 2020 | Journal Article | 
    ​ ​Schröder S, Wieland B, Ohlenbusch A, Yigit G, Altmüller J, Boltshauser E, et al. ​Evidence of pathogenicity for the leaky splice variant c. 1066‐6T >G in ATM​. ​​American Journal of Medical Genetics Part A. ​2020;​182​(12):​​2971​-2975​. ​doi:10.1002/ajmg.a.61870. 
    ​Details  DOI 
  • 2020 | Journal Article | Research Paper | 
    ​ ​Ragamin A, Yigit G, Bousset K, Beleggia F, Verheijen FW, Wit MY, et al. ​Human RAD50 deficiency: Confirmation of a distinctive phenotype​. ​​American Journal of Medical Genetics Part A. ​2020;​182​(6):​​1378​-1386​. ​doi:10.1002/ajmg.a.61570. 
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article | Research Paper | 
    ​ ​Ganapathi M, Argyriou L, Martínez-Azorín F, Morlot S, Yigit G, Lee TM, et al. ​Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis​. ​​Human Genetics. ​2020;​139​(11):​​1443​-1454​. ​doi:10.1007/s00439-020-02188-6. 
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article | Research Paper
    ​ ​Hanses U, Kleinsorge M, Roos L, Yigit G, Li Y, Barbarics B, et al. ​Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome–Associated Cardiomyopathy​. ​​Circulation. ​2020;​142​(11):​​1059​-1076​. ​doi:10.1161/CIRCULATIONAHA.119.044794. 
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article | Research Paper | 
    ​ ​Schröder S, Li Y, Yigit G, Altmüller J, Bader I, Bevot A, et al. ​Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia​. ​​Genetics in Medicine. ​2020;​23​(2):​​341​-351​. ​doi:10.1038/s41436-020-00979-w. 
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  • 2019 | Journal Article | Research Paper
    ​ ​Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, et al. ​Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta​. ​​The American Journal of Human Genetics. ​2019;​105​(4):​​836​-843​. ​doi:10.1016/j.ajhg.2019.08.008. 
    ​Details  DOI 
  • 2019 | Journal Article | 
    ​ ​Nagy V, Hollstein R, Pai, Tsung-Pin, Herde MK, Buphamalai P, Moeseneder P, et al. ​HACE1 deficiency leads to structural and functional neurodevelopmental defects​. ​​Neurology Genetics. ​2019;​5​(3):​​e330​. ​doi:10.1212/NXG.0000000000000330. 
    ​Details  DOI 
  • 2019 | Journal Article | 
    ​ ​Kalasova I, Hanzlikova H, Gupta N, Li Y, Altmüller J, Reynolds JJ, et al. ​Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ​. ​​Neurology Genetics. ​2019;​5​(2):​​e320​. ​doi:10.1212/NXG.0000000000000320. 
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  • 2019 | Journal Article | Research Paper | 
    ​ ​Yigit G, Saida K, DeMarzo D, Miyake N, Fujita A, Yang Tan T, et al. ​The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype​. ​​Human Mutation. ​2019;​41​(3):​​591​-599​. ​doi:10.1002/humu.23964. 
    ​Details  DOI  PMID  PMC 
  • 2018 | Journal Article | Research Paper | 
    ​ ​Martin, Carol-Anne, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, et al. ​Mutations in TOP3A Cause a Bloom Syndrome-like Disorder​. ​​The American Journal of Human Genetics. ​2018;​103​(2):​​221​-231​. ​doi:10.1016/j.ajhg.2018.07.001. 
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  • 2018 | Journal Article | Research Paper
    ​ ​Paolacci S, Li Y, Agolini E, Bellacchio E, Arboleda-Bustos C, Carrero D, et al. ​Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome​. ​​Journal of Medical Genetics. ​2018;​55​(12):​​837​-846​. ​doi:10.1136/jmedgenet-2018-105528. 
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  • 2017 | Journal Article
    ​ ​Moosa S, Altmüller J, Lyngbye T, Christensen R, Li Y, Nürnberg P, et al. ​Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome​. ​​Molecular Genetics & Genomic Medicine. ​2017;​5​(5):​​580​-584​. ​doi:10.1002/mgg3.287. 
    ​Details  DOI 
  • 2017 | Journal Article | 
    ​ ​Windpassinger C, Piard J, Bonnard C, Alfadhel M, Lim S, Bisteau X, et al. ​CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays​. ​​The American Journal of Human Genetics. ​2017;​101​(3):​​391​-403​. ​doi:10.1016/j.ajhg.2017.08.003. 
    ​Details  DOI 
  • 2017 | Journal Article
    ​ ​Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, et al. ​De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development​. ​​Nature Genetics. ​2017;​49​(2):​​249​-255​. ​doi:10.1038/ng.3765. 
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  • 2017 | Journal Article | Research Paper
    ​ ​Ehmke N, Graul-Neumann L, Smorag L, Koenig R, Segebrecht L, Magoulas P, et al. ​De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction​. ​​The American Journal of Human Genetics. ​2017;​101​(5):​​833​-843​. ​doi:10.1016/j.ajhg.2017.09.016. 
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  • 2016 | Journal Article
    ​ ​Moosa S, Böhrer-Rabel H, Altmüller J, Beleggia F, Nürnberg P, Li Y, et al. ​Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism​. ​​American Journal of Medical Genetics Part A. ​2016;​173​(1):​​264​-267​. ​doi:10.1002/ajmg.a.37999. 
    ​Details  DOI 
  • 2016 | Journal Article | Research Paper
    ​ ​Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, et al. ​Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2​. ​​Human Mutation. ​2016;​37​(9):​​847​-864​. ​doi:10.1002/humu.23026. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2016 | Journal Article | Research Paper
    ​ ​Yigit G, Wieczorek D, Boegershausen N, Beleggia F, Moeller-Hartmann C, Altmüller J, et al. ​A Syndrome of Microcephaly, Short Stature, Polysyndactyly, and Dental Anomalies Caused by a Homozygous KATNB1 Mutation​. ​​American Journal of Medical Genetics. ​2016;​170​(3):​​728​-733​. ​doi:10.1002/ajmg.a.37484. 
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  • 2016 | Journal Article
    ​ ​Bögershausen N, Altunoglu U, Beleggia F, Yigit G, Kayserili H, Nürnberg P, et al. ​An Unusual Presentation of Kabuki Syndrome with Orbital Cysts, Microphthalmia, and Cholestasis with Bile Duct Paucity​. ​​American Journal of Medical Genetics. ​2016;​170​(12):​​3282​-3288​. ​doi:10.1002/ajmg.a.37931. 
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  • 2016 | Journal Article | Research Paper
    ​ ​Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, et al. ​TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism​. ​​Nature Genetics. ​2016;​48​(1):​​36​-+​. ​doi:10.1038/ng.3451. 
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  • 2015 | Journal Article
    ​ ​Yigit G, Brown KE, Kayserili H, Pohl E, Caliebe A, Zahnleiter D, et al. ​Mutations in CDK5RAP2 cause Seckel syndrome​. ​​Molecular Genetics & Genomic Medicine. ​2015;​3​(5):​​467​-480​. ​doi:10.1002/mgg3.158. 
    ​Details  DOI 
  • 2015 | Journal Article | Research Paper
    ​ ​Boegershausen N, Tsai, I-Chun, Pohl E, Kiper POS, Beleggia F, Percin EF, et al. ​RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome​. ​​Journal of Clinical Investigation. ​2015;​125​(9):​​3585​-3599​. ​doi:10.1172/JCI80102. 
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  • 2015 | Journal Article | Letter Note
    ​ ​Kilic E, Yigit G, Utine GE, Wollnik B, Mihci E, Nur BG, et al. ​A Novel Mutation in RNU4ATAC in a Patient with Microcephalic Osteodysplastic Primordial Dwarfism Type I​. ​​American Journal of Medical Genetics. ​2015;​167​(4):​​919​-921​. ​doi:10.1002/ajmg.a.36955. 
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  • 2015 | Journal Article | Research Paper
    ​ ​Rosin N, Elcioglu NH, Beleggia F, Isguven P, Altmüller J, Thiele H, et al. ​Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability​. ​​Human Molecular Genetics. ​2015;​24​(13):​​3708​-3717​. ​doi:10.1093/hmg/ddv115. 
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  • 2014 | Journal Article | Research Paper
    ​ ​Murray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M, Haghayegh S, et al. ​Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency​. ​​Human Mutation. ​2014;​35​(1):​​76​-85​. ​doi:10.1002/humu.22461. 
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  • 2014 | Journal Article | Research Paper
    ​ ​Hussain MS, Battaglia A, Szczepanski S, Kaygusuz E, Toliat MR, Sakakibara, Shin-ichi, et al. ​Mutations in CKAP2L, the Human Homo log of the Mouse Radmis Gene, Cause Filippi Syndrome​. ​​American journal of human genetics. ​2014;​95​(5):​​622​-632​. ​doi:10.1016/j.ajhg.2014.10.008. 
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  • 2013 | Journal Article
    ​ ​Keupp K, Li Y, Vargel I, Hoischen A, Richardson R, Neveling K, et al. ​Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis​. ​​Molecular Genetics & Genomic Medicine. ​2013;​1​(4):​​223​-237​. ​doi:10.1002/mgg3.28. 
    ​Details  DOI 
  • 2013 | Journal Article | Research Paper
    ​ ​Hussain MS, Baig SM, Neumann S, Peche VS, Szczepanski S, Nürnberg G, et al. ​CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly​. ​​Human Molecular Genetics. ​2013;​22​(25):​​5199​-5214​. ​doi:10.1093/hmg/ddt374. 
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  • 2013 | Journal Article | Research Paper
    ​ ​Keupp K, Beleggia F, Kayserili H, Barnes AM, Steiner M, Semler O, et al. ​Mutations in WNT1 Cause Different Forms of Bone Fragility​. ​​American journal of human genetics. ​2013;​92​(4):​​565​-574​. ​doi:10.1016/j.ajhg.2013.02.010. 
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  • 2013 | Journal Article | Research Paper
    ​ ​Pohl E, Aykut A, Beleggia F, Karaca E, Durmaz B, Keupp K, et al. ​A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome​. ​​Human Genetics. ​2013;​132​(11):​​1311​-1320​. ​doi:10.1007/s00439-013-1337-9. 
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  • 2012 | Journal Article | Research Paper
    ​ ​Asharani PV, Keupp K, Semler O, Wang W, Li Y, Thiele H, et al. ​Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish​. ​​American journal of human genetics. ​2012;​90​(4):​​661​-674​. ​doi:10.1016/j.ajhg.2012.02.026. 
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  • 2011 | Journal Article | Research Paper
    ​ ​Kalay E, Yigit G, Aslan Y, Brown KE, Pohl E, Bicknell LS, et al. ​CEP152 is a genome maintenance protein disrupted in Seckel syndrome​. ​​Nature Genetics. ​2011;​43​(1):​​23​-26​. ​doi:10.1038/ng.725. 
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  • 2011 | Journal Article | Research Paper
    ​ ​Li Y, Boegershausen N, Alanay Y, Kiper POS, Plume N, Keupp K, et al. ​A mutation screen in patients with Kabuki syndrome​. ​​Human Genetics. ​2011;​130​(6):​​715​-724​. ​doi:10.1007/s00439-011-1004-y. 
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  • 2010 | Journal Article | Research Paper
    ​ ​Li Y, Laue K, Temtamy S, Aglan M, Kotan LD, Yigit G, et al. ​Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling​. ​​American journal of human genetics. ​2010;​87​(6):​​757​-767​. ​doi:10.1016/j.ajhg.2010.10.003. 
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  • 2010 | Journal Article | Research Paper
    ​ ​Li Y, Pawlik B, Elcioglu NH, Aglan M, Kayserili H, Yigit G, et al. ​LRP4 Mutations Alter Wnt/beta-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome​. ​​American journal of human genetics. ​2010;​86​(5):​​696​-706​. ​doi:10.1016/j.ajhg.2010.03.004. 
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  • 2009 | Journal Article
    ​ ​Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, et al. ​ALX4 dysfunction disrupts craniofacial and epidermal development​. ​​Human Molecular Genetics. ​2009;​18​(22):​​4357​-4366​. ​doi:10.1093/hmg/ddp391. 
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