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, Julia, Steffi Dreha-Kulaczewski, Maria Patapia Zafeiriou, Marie-Kristin Schreiber, Bernd Wilken, Rudolf Funke, Christiane M. Neuhofer et al. "Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum​." ​Frontiers in Cell and Developmental Biology ​10 (2022): . ​https://doi.org/10.3389/fcell.2022.1025332.
    ​Details  DOI  PMID  PMC 
  • 2022 | Journal Article | Research Paper | 
    ​ ​Bögershausen, Nina, Hannah E. Krawczyk, Rami A. Jamra, Sheng‐Jia Lin, Gökhan Yigit, Irina Hüning, Anna M. Polo et al. "WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly​." ​Human Mutation ​43, no. 10 (2022): ​1454​-1471​. ​https://doi.org/10.1002/humu.24430.
    ​Details  DOI  PMID  PMC 
  • 2021 | Journal Article
    ​ ​Gangfuß, Andrea, Gökhan Yigit, Janine Altmüller, Peter Nürnberg, Johanna Christina Czeschik, Bernd Wollnik, Nina Bögershausen 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 ​185, no. 4 (2021): ​1216​-1221​. ​https://doi.org/10.1002/ajmg.a.62070.
    ​Details  DOI 
  • 2020 | Journal Article | 
    ​ ​Schröder, Simone, Britta Wieland, Andreas Ohlenbusch, Gökhan Yigit, Janine Altmüller, Eugen Boltshauser, Thilo Dörk, and Knut Brockmann. "Evidence of pathogenicity for the leaky splice variant c. 1066‐6T >G in ATM​." ​American Journal of Medical Genetics Part A ​182, no. 12 (2020): ​2971​-2975​. ​https://doi.org/10.1002/ajmg.a.61870.
    ​Details  DOI 
  • 2020 | Journal Article | Research Paper
    ​ ​Hanses, Ulrich, Mandy Kleinsorge, Lennart Roos, Gökhan Yigit, Yun Li, Boris Barbarics, Ibrahim El-Battrawy et al. "Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome–Associated Cardiomyopathy​." ​Circulation ​142, no. 11 (2020): ​1059​-1076​. ​https://doi.org/10.1161/CIRCULATIONAHA.119.044794.
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article | Research Paper | 
    ​ ​Schröder, Simone, Yun Li, Gökhan Yigit, Janine Altmüller, Ingrid Bader, Andrea Bevot, Saskia Biskup et al. "Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia​." ​Genetics in Medicine ​23, no. 2 (2020): ​341​-351​. ​https://doi.org/10.1038/s41436-020-00979-w.
    ​Details  DOI  PMID  PMC 
  • 2019 | Journal Article | Research Paper
    ​ ​Moosa, Shahida, Guilherme L. Yamamoto, Lutz Garbes, Katharina Keupp, Ana Beleza-Meireles, Carolina Araujo Moreno, Eugenia Ribeiro Valadares et al. "Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta​." ​The American Journal of Human Genetics ​105, no. 4 (2019): ​836​-843​. ​https://doi.org/10.1016/j.ajhg.2019.08.008.
    ​Details  DOI 
  • 2019 | Journal Article | 
    ​ ​Kalasova, Ilona, Hana Hanzlikova, Neerja Gupta, Yun Li, Janine Altmüller, John J. Reynolds, Grant S. Stewart, Bernd Wollnik, Gökhan Yigit, and Keith W. Caldecott. "Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ​." ​Neurology Genetics ​5, no. 2 (2019): ​e320​. ​https://doi.org/10.1212/NXG.0000000000000320.
    ​Details  DOI 
  • 2019 | Journal Article | Research Paper | 
    ​ ​Yigit, Gökhan, Ken Saida, Danielle DeMarzo, Noriko Miyake, Atsushi Fujita, Tiong Yang Tan, Susan M. White et al. "The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype​." ​Human Mutation ​41, no. 3 (2019): ​591​-599​. ​https://doi.org/10.1002/humu.23964.
    ​Details  DOI  PMID  PMC 
  • 2018 | Journal Article | Research Paper | 
    ​ ​Martin, Carol-Anne, Kata Sarlós, Clare V. Logan, Roshan Singh Thakur, David A. Parry, Anna H. Bizard, Andrea Leitch et al. "Mutations in TOP3A Cause a Bloom Syndrome-like Disorder​." ​The American Journal of Human Genetics ​103, no. 2 (2018): ​221​-231​. ​https://doi.org/10.1016/j.ajhg.2018.07.001.
    ​Details  DOI  PMID  PMC 
  • 2018 | Journal Article | Research Paper
    ​ ​Paolacci, Stefano, Yun Li, Emanuele Agolini, Emanuele Bellacchio, Carlos E Arboleda-Bustos, Dido Carrero, Debora Bertola et al. "Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome​." ​Journal of Medical Genetics ​55, no. 12 (2018): ​837​-846​. ​https://doi.org/10.1136/jmedgenet-2018-105528.
    ​Details  DOI  PMID  PMC 
  • 2017 | Journal Article
    ​ ​Moosa, Shahida, Janine Altmüller, Troels Lyngbye, Rikke Christensen, Yun Li, Peter Nürnberg, Gökhan Yigit, Ida Vogel, and Bernd Wollnik. "Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome​." ​Molecular Genetics & Genomic Medicine ​5, no. 5 (2017): ​580​-584​. ​https://doi.org/10.1002/mgg3.287.
    ​Details  DOI 
  • 2017 | Journal Article | 
    ​ ​Windpassinger, Christian, Juliette Piard, Carine Bonnard, Majid Alfadhel, Shuhui Lim, Xavier Bisteau, Stéphane Blouin et al. "CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays​." ​The American Journal of Human Genetics ​101, no. 3 (2017): ​391​-403​. ​https://doi.org/10.1016/j.ajhg.2017.08.003.
    ​Details  DOI 
  • 2017 | Journal Article
    ​ ​Gordon, Christopher T., Shifeng Xue, Gökhan Yigit, Hicham Filali, Kelan Chen, Nadine Rosin, Koh-ichiro Yoshiura et al. "De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development​." ​Nature Genetics ​49, no. 2 (2017): ​249​-255​. ​https://doi.org/10.1038/ng.3765.
    ​Details  DOI  PMID  PMC 
  • 2017 | Journal Article | Research Paper
    ​ ​Ehmke, Nadja, Luitgard Graul-Neumann, Lukasz Smorag, Rainer Koenig, Lara Segebrecht, Pilar Magoulas, Fernando Scaglia et al. "De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction​." ​The American Journal of Human Genetics ​101, no. 5 (2017): ​833​-843​. ​https://doi.org/10.1016/j.ajhg.2017.09.016.
    ​Details  DOI  PMID  PMC 
  • 2016 | Journal Article
    ​ ​Moosa, Shahida, Helena Böhrer-Rabel, Janine Altmüller, Filippo Beleggia, Peter Nürnberg, Yun Li, Gökhan Yigit, and Bernd Wollnik. "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 ​173, no. 1 (2016): ​264​-267​. ​https://doi.org/10.1002/ajmg.a.37999.
    ​Details  DOI 
  • 2016 | Journal Article | Research Paper
    ​ ​Yigit, Gökhan, Dagmar Wieczorek, Nina Boegershausen, Filippo Beleggia, Claudia Moeller-Hartmann, Janine Altmüller, Holger Thiele, Peter Nürnberg, and Bernd Wollnik. "A Syndrome of Microcephaly, Short Stature, Polysyndactyly, and Dental Anomalies Caused by a Homozygous KATNB1 Mutation​." ​American Journal of Medical Genetics ​170, no. 3 (2016): ​728​-733​. ​https://doi.org/10.1002/ajmg.a.37484.
    ​Details  DOI  PMID  PMC  WoS 
  • 2016 | Journal Article
    ​ ​Bögershausen, Nina, Umut Altunoglu, Filippo Beleggia, Gökhan Yigit, Hülya Kayserili, Peter Nürnberg, Yun Li, Janine Altmüller, and Bernd Wollnik. "An Unusual Presentation of Kabuki Syndrome with Orbital Cysts, Microphthalmia, and Cholestasis with Bile Duct Paucity​." ​American Journal of Medical Genetics ​170, no. 12 (2016): ​3282​-3288​. ​https://doi.org/10.1002/ajmg.a.37931.
    ​Details  DOI  PMID  PMC  WoS 
  • 2016 | Journal Article | Research Paper
    ​ ​Harley, Margaret E., Olga Murina, Andrea Leitch, Martin R. Higgs, Louise S. Bicknell, Gökhan Yigit, Andrew N. Blackford et al. "TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism​." ​Nature Genetics ​48, no. 1 (2016): ​36​-+​. ​https://doi.org/10.1038/ng.3451.
    ​Details  DOI  PMID  PMC  WoS 
  • 2015 | Journal Article | Research Paper
    ​ ​Rosin, Nadine, Nursel H. Elcioglu, Filippo Beleggia, Pinar Isguven, Janine Altmüller, Holger Thiele, Katharina Steindl et al. "Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability​." ​Human Molecular Genetics ​24, no. 13 (2015): ​3708​-3717​. ​https://doi.org/10.1093/hmg/ddv115.
    ​Details  DOI  PMID  PMC  WoS 
  • 2014 | Journal Article | Research Paper
    ​ ​Hussain, Muhammad Sajid, Agatino Battaglia, Sandra Szczepanski, Emrah Kaygusuz, Mohammad Reza Toliat, Shin-ichi Sakakibara, Janine Altmüller et al. "Mutations in CKAP2L, the Human Homo log of the Mouse Radmis Gene, Cause Filippi Syndrome​." ​American journal of human genetics ​95, no. 5 (2014): ​622​-632​. ​https://doi.org/10.1016/j.ajhg.2014.10.008.
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Journal Article | Research Paper
    ​ ​Hussain, Muhammad Sajid, Shahid M. Baig, Sascha Neumann, Vivek S. Peche, Sandra Szczepanski, Gudrun Nürnberg, Muhammad Tariq et al. "CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly​." ​Human Molecular Genetics ​22, no. 25 (2013): ​5199​-5214​. ​https://doi.org/10.1093/hmg/ddt374.
    ​Details  DOI  PMID  PMC  WoS 
  • 2012 | Journal Article | Research Paper
    ​ ​Asharani, P. V., Katharina Keupp, Oliver Semler, Wenshen Wang, Yun Li, Holger Thiele, Gökhan Yigit et al. "Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish​." ​American journal of human genetics ​90, no. 4 (2012): ​661​-674​. ​https://doi.org/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: chicago 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.