Dr. Gökhan Yigit

Name Card

Main Affiliation
 
Staff Status
unigoe
 

1-23 of 23
 
The bibliographical data in your publication list are complete
You can correct existing data in the blue highlighted fields.To do this, please click on the coloured field. It is not possible to delete data here.
Fields that are not marked in colour (e. g. the authors) can be edited using the input form. To do so, click on the in front of the respective publication.
The bibliographic data in your publication list may be incomplete. You can
  • add any missing data in the fields marked in red or
  • correct existing data in the blue highlighted fields.
To do this, please click on the coloured field. It is not possible to delete data here.
Fields that are not marked in colour (e. g. the authors) can be edited using the input form. To do so, click on the in front of the respective publication.
Check/Uncheck all
  • 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. 
    ​Details  DOI  PMID  PMC 
  • 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 
  • 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
    ​ ​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. 
    ​Details  DOI  PMID  PMC 
  • 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 | 
    ​ ​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. 
    ​Details  DOI 
  • 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. 
    ​Details  DOI  PMID  PMC 
  • 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. 
    ​Details  DOI  PMID  PMC 
  • 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. 
    ​Details  DOI  PMID  PMC 
  • 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. 
    ​Details  DOI  PMID  PMC 
  • 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
    ​ ​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. 
    ​Details  DOI  PMID  PMC  WoS 
  • 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. 
    ​Details  DOI  PMID  PMC  WoS 
  • 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. 
    ​Details  DOI  PMID  PMC  WoS 
  • 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. 
    ​Details  DOI  PMID  PMC  WoS 
  • 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. 
    ​Details  DOI  PMID  PMC  WoS 
  • 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. 
    ​Details  DOI  PMID  PMC  WoS 
  • 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. 
    ​Details  DOI  PMID  PMC  WoS 

Publication List

All Articles (Book & Journal) Articles & Preprints Papers (Journal & Conference)

Filter

Active filter:
Contributor:  Altmüller, Janine

Type

Subtype

Date issued

Author

Project

Peer-Reviewed

Organization

Language

Fulltext

Options

Citation Style

GRO View APA Chicago MLA Vancouver
https://publications.goettingen-research-online.de URI: /cris/rp/rp02394
ID: 0000000
PREF: vancouver TOKEN:

0

Sort

Issue Date
ASC DESC
Title
ASC DESC

Embed

JavaScript
Link

Export

Activate Export Mode
Deactivate Export Mode

Select some or all items (max. 800 for CSV/Excel) from the publications list, then choose an export format below.