Dr. Gökhan Yigit

Name Card

Main Affiliation
 
Staff Status
unigoe
 

1-11 of 11
 
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 | 
    ​ ​Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum​
    Schmidt, J. ; Dreha-Kulaczewski, S. ; Zafeiriou, M. P. ; Schreiber, M.-K.; Wilken, B.; Funke, R. & Neuhofer, C. M. et al.​ (2022) 
    Frontiers in Cell and Developmental Biology, 10.​ DOI: https://doi.org/10.3389/fcell.2022.1025332 
    ​Details  DOI  PMID  PMC 
  • 2022 | Journal Article | Research Paper | 
    ​ ​WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly​
    Bögershausen, N.; Krawczyk, H. E.; Jamra, R. A.; Lin, S.; Yigit, G. ; Hüning, I. & Polo, A. M. et al.​ (2022) 
    Human Mutation, 43(10) pp. 1454​-1471​.​ DOI: https://doi.org/10.1002/humu.24430 
    ​Details  DOI  PMID  PMC 
  • 2022 | Journal Article | Research Paper | 
    ​ ​A novel single-cell RNA-sequencing approach and its applicability connecting genotype to phenotype in ageing disease​
    Shomroni, O. ; Sitte, M.; Schmidt, J.; Parbin, S.; Ludewig, F. ; Yigit, G.   & Zelarayan, L. C.  et al.​ (2022) 
    Scientific Reports, 12(1) art. 4091​.​ DOI: https://doi.org/10.1038/s41598-022-07874-1 
    ​Details  DOI  PMID  PMC 
  • 2021 | Journal Article
    ​ ​Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study​
    Gangfuß, A.; Yigit, G. ; Altmüller, J.; Nürnberg, P.; Czeschik, J. C.; Wollnik, B.   & Bögershausen, N. et al.​ (2021) 
    American Journal of Medical Genetics Part A, 185(4) pp. 1216​-1221​.​ DOI: https://doi.org/10.1002/ajmg.a.62070 
    ​Details  DOI 
  • 2021 | Journal Article | Research Paper | 
    ​ ​Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies​
    Iqbal, M.; Maroofian, R.; Çavdarlı, B.; Riccardi, F.; Field, M.; Banka, S. & Bubshait, D. K. et al.​ (2021) 
    Genetics in Medicine,.​ DOI: https://doi.org/10.1038/s41436-021-01260-4 
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article
    ​ ​Neugeborenes mit Nasenagenesie: Neonatologische Herausforderungen bei der Versorgung eines Neugeborenen mit Bosma-Arhinie-Mikrophthalmie-Syndrom (BAMS)​
    Stromiedel, H.; Van Quekelberghe, C.; Yigit, G. ; Naimi, A. A.; Bahlmann, F.; Sader, R. & Guchlerner, M. et al.​ (2020) 
    Zeitschrift für Geburtshilfe und Neonatologie, 224(06) pp. 377​-380​.​ DOI: https://doi.org/10.1055/a-1224-4465 
    ​Details  DOI 
  • 2020 | Journal Article | 
    ​ ​Evidence of pathogenicity for the leaky splice variant c. 1066‐6T >G in ATM​
    Schröder, S.; Wieland, B.; Ohlenbusch, A. ; Yigit, G. ; Altmüller, J.; Boltshauser, E. & Dörk, T. et al.​ (2020) 
    American Journal of Medical Genetics Part A, 182(12) pp. 2971​-2975​.​ DOI: https://doi.org/10.1002/ajmg.a.61870 
    ​Details  DOI 
  • 2020 | Journal Article | Research Paper | 
    ​ ​Human RAD50 deficiency: Confirmation of a distinctive phenotype​
    Ragamin, A.; Yigit, G. ; Bousset, K.; Beleggia, F.; Verheijen, F. W.; Wit, M. Y. & Strom, T. M. et al.​ (2020) 
    American Journal of Medical Genetics Part A, 182(6) pp. 1378​-1386​.​ DOI: https://doi.org/10.1002/ajmg.a.61570 
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article | Research Paper | 
    ​ ​Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis​
    Ganapathi, M.; Argyriou, L.; Martínez-Azorín, F.; Morlot, S.; Yigit, G. ; Lee, T. M. & Auber, B. et al.​ (2020) 
    Human Genetics, 139(11) pp. 1443​-1454​.​ DOI: https://doi.org/10.1007/s00439-020-02188-6 
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article | Research Paper
    ​ ​Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome–Associated Cardiomyopathy​
    Hanses, U.; Kleinsorge, M.; Roos, L.; Yigit, G. ; Li, Y. ; Barbarics, B. & El-Battrawy, I. et al.​ (2020) 
    Circulation, 142(11) pp. 1059​-1076​.​ DOI: https://doi.org/10.1161/CIRCULATIONAHA.119.044794 
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article | Research Paper | 
    ​ ​Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia​
    Schröder, S.; Li, Y. ; Yigit, G. ; Altmüller, J.; Bader, I.; Bevot, A. & Biskup, S. et al.​ (2020) 
    Genetics in Medicine, 23(2) pp. 341​-351​.​ DOI: https://doi.org/10.1038/s41436-020-00979-w 
    ​Details  DOI  PMID  PMC 

Publication List

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

Filter

Active filter:
Date Issued:  [2020 TO 2022]

Type

Subtype

Date issued

Author

Project

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: default 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.