Dr. Gökhan Yigit

 
Staff Status
unigoe
 

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  • 2021 Journal Article | Original Work
    ​ 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,.​
    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 A185(4) pp. 1216-1221.​
    Details  DOI 
  • 2020 Journal Article | Original Work
    ​ 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 Medicine23(2) pp. 341-351.​
    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 Neonatologie224(06) pp. 377-380.​
    Details  DOI 
  • 2020 Journal Article | Original Work
    ​ 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 A182(6) pp. 1378-1386.​
    Details  DOI  PMID  PMC 
  • 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 A182(12) pp. 2971-2975.​
    Details  DOI 
  • 2020 Journal Article | Original Work
    ​ 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 Genetics139(11) pp. 1443-1454.​
    Details  DOI  PMID  PMC 
  • 2020 Journal Article | Original Work
    ​ 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) 
    Circulation142(11) pp. 1059-1076.​
    Details  DOI  PMID  PMC 
  • 2019 Journal Article | 
    ​ Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ
    Kalasova, I.; Hanzlikova, H.; Gupta, N.; Li, Y. ; Altmüller, J.; Reynolds, J. J. & Stewart, G. S. et al. (2019) 
    Neurology Genetics5(2) pp. e320.​
    Details  DOI 
  • 2019 Journal Article | 
    ​ HACE1 deficiency leads to structural and functional neurodevelopmental defects
    Nagy, V.; Hollstein, R.; Pai, T.-P.; Herde, M. K.; Buphamalai, P.; Moeseneder, P. & Lenartowicz, E. et al. (2019) 
    Neurology Genetics5(3) pp. e330.​
    Details  DOI 
  • 2019 Journal Article | Original Work
    ​ Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta
    Moosa, S. ; Yamamoto, G. L.; Garbes, L.; Keupp, K.; Beleza-Meireles, A.; Moreno, C. A. & Valadares, E. R. et al. (2019) 
    The American Journal of Human Genetics105(4) pp. 836-843.​
    Details  DOI 
  • 2019 Journal Article | Original Work
    ​ The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype
    Yigit, G. ; Saida, K.; DeMarzo, D.; Miyake, N.; Fujita, A.; Yang Tan, T. & White, S. M. et al. (2019) 
    Human Mutation41(3) pp. 591-599.​
    Details  DOI  PMID  PMC 
  • 2018 Journal Article | Original Work
    ​ Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
    Martin, C.-A.; Sarlós, K.; Logan, C. V.; Thakur, R. S.; Parry, D. A.; Bizard, A. H. & Leitch, A. et al. (2018) 
    The American Journal of Human Genetics103(2) pp. 221-231.​
    Details  DOI  PMID  PMC 
  • 2018 Journal Article | Original Work
    ​ Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome
    Paolacci, S.; Li, Y. ; Agolini, E.; Bellacchio, E.; Arboleda-Bustos, C. E; Carrero, D. & Bertola, D. et al. (2018) 
    Journal of Medical Genetics55(12) pp. 837-846.​
    Details  DOI  PMID  PMC 
  • 2017 Journal Article | 
    ​ CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays
    Windpassinger, C.; Piard, J.; Bonnard, C.; Alfadhel, M.; Lim, S.; Bisteau, X. & Blouin, S. et al. (2017) 
    The American Journal of Human Genetics101(3) pp. 391-403.​
    Details  DOI 
  • 2017 Journal Article
    ​ Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome
    Moosa, S. ; Altmüller, J.; Lyngbye, T.; Christensen, R.; Li, Y. ; Nürnberg, P. & Yigit, G.  et al. (2017) 
    Molecular Genetics & Genomic Medicine5(5) pp. 580-584.​
    Details  DOI 
  • 2017 Journal Article
    ​ $De novo$ mutations in $SMCHD1$ cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
    Gordon, C. T.; Xue, S.; Yigit, G. ; Filali, H.; Chen, K.; Rosin, N.   & Yoshiura, K.-i. et al. (2017) 
    Nature Genetics49(2) pp. 249-255.​
    Details  DOI  PMID  PMC 
  • 2017 Journal Article | Original Work
    ​ De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
    Ehmke, N.; Graul-Neumann, L.; Smorag, L. ; Koenig, R.; Segebrecht, L.; Magoulas, P. & Scaglia, F. et al. (2017) 
    The American Journal of Human Genetics101(5) pp. 833-843.​
    Details  DOI  PMID  PMC 
  • 2016 Journal Article
    ​ An Unusual Presentation of Kabuki Syndrome with Orbital Cysts, Microphthalmia, and Cholestasis with Bile Duct Paucity
    Bögershausen, N.; Altunoglu, U.; Beleggia, F.; Yigit, G. ; Kayserili, H.; Nürnberg, P. & Li, Y.  et al. (2016) 
    American Journal of Medical Genetics170(12) pp. 3282-3288.​
    Details  DOI  PMID  PMC  WoS 
  • 2016 Journal Article
    ​ A Syndrome of Microcephaly, Short Stature, Polysyndactyly, and Dental Anomalies Caused by a Homozygous KATNB1 Mutation
    Yigit, G. ; Wieczorek, D.; Boegershausen, N.; Beleggia, F.; Moeller-Hartmann, C.; Altmüller, J. & Thiele, H. et al. (2016) 
    American Journal of Medical Genetics170(3) pp. 728-733.​
    Details  DOI  PMID  PMC  WoS 
  • 2016 Journal Article
    ​ Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2
    Bögershausen, N.; Gatinois, V.; Riehmer, V.; Kayserili, H.; Becker, J.; Thoenes, M. & Simsek-Kiper, P. Ö. et al. (2016) 
    Human Mutation37(9) pp. 847-864.​
    Details  DOI  PMID  PMC  WoS 
  • 2016 Journal Article
    ​ Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism
    Moosa, S. ; Böhrer-Rabel, H.; Altmüller, J.; Beleggia, F.; Nürnberg, P.; Li, Y.   & Yigit, G.  et al. (2016) 
    American Journal of Medical Genetics Part A173(1) pp. 264-267.​
    Details  DOI 
  • 2016 Journal Article
    ​ TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism
    Harley, M. E.; Murina, O.; Leitch, A.; Higgs, M. R.; Bicknell, L. S.; Yigit, G.   & Blackford, A. N. et al. (2016) 
    Nature Genetics48(1) pp. 36-+.​
    Details  DOI  PMID  PMC  WoS 
  • 2015 Journal Article
    ​ A Novel Mutation in RNU4ATAC in a Patient with Microcephalic Osteodysplastic Primordial Dwarfism Type I
    Kilic, E.; Yigit, G. ; Utine, G. E.; Wollnik, B. ; Mihci, E.; Nur, B. G. & Boduroglu, K. (2015) 
    American Journal of Medical Genetics167(4) pp. 919-921.​
    Details  DOI  PMID  PMC  WoS 
  • 2015 Journal Article
    ​ Mutations in CDK5RAP2 cause Seckel syndrome
    Yigit, G. ; Brown, K. E.; Kayserili, H.; Pohl, E.; Caliebe, A.; Zahnleiter, D. & Rosser, E. et al. (2015) 
    Molecular Genetics & Genomic Medicine3(5) pp. 467-480.​
    Details  DOI 
  • 2015 Journal Article
    ​ RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome
    Boegershausen, N.; Tsai, I.-C.; Pohl, E.; Kiper, P. O. S.; Beleggia, F.; Percin, E. F. & Keupp, K. et al. (2015) 
    Journal of Clinical Investigation125(9) pp. 3585-3599.​
    Details  DOI  PMID  PMC  WoS 
  • 2015 Journal Article
    ​ Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability
    Rosin, N. ; Elcioglu, N. H.; Beleggia, F.; Isguven, P.; Altmüller, J.; Thiele, H. & Steindl, K. et al. (2015) 
    Human Molecular Genetics24(13) pp. 3708-3717.​
    Details  DOI  PMID  PMC  WoS 
  • 2014 Journal Article
    ​ Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency
    Murray, J. E.; Bicknell, L. S.; Yigit, G. ; Duker, A. L.; van Kogelenberg, M.; Haghayegh, S. & Wieczorek, D. et al. (2014) 
    Human Mutation35(1) pp. 76-85.​
    Details  DOI  PMID  PMC  WoS 
  • 2014 Journal Article
    ​ Mutations in CKAP2L, the Human Homo log of the Mouse Radmis Gene, Cause Filippi Syndrome
    Hussain, M. S.; Battaglia, A.; Szczepanski, S.; Kaygusuz, E.; Toliat, M. R.; Sakakibara, S.-i. & Altmüller, J. et al. (2014) 
    American journal of human genetics95(5) pp. 622-632.​
    Details  DOI  PMID  PMC  WoS 
  • 2013 Journal Article
    ​ A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome
    Pohl, E.; Aykut, A.; Beleggia, F.; Karaca, E.; Durmaz, B.; Keupp, K. & Arslan, E. et al. (2013) 
    Human Genetics132(11) pp. 1311-1320.​
    Details  DOI  PMID  PMC  WoS 
  • 2013 Journal Article
    ​ CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly
    Hussain, M. S.; Baig, S. M.; Neumann, S.; Peche, V. S.; Szczepanski, S.; Nürnberg, G. & Tariq, M. et al. (2013) 
    Human Molecular Genetics22(25) pp. 5199-5214.​
    Details  DOI  PMID  PMC  WoS 
  • 2013 Journal Article
    ​ Mutations in WNT1 Cause Different Forms of Bone Fragility
    Keupp, K.; Beleggia, F.; Kayserili, H.; Barnes, A. M.; Steiner, M.; Semler, O. & Fischer, B. et al. (2013) 
    American journal of human genetics92(4) pp. 565-574.​
    Details  DOI  PMID  PMC  WoS 
  • 2013 Journal Article
    ​ Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis
    Keupp, K.; Li, Y. ; Vargel, I.; Hoischen, A.; Richardson, R.; Neveling, K. & Alanay, Y. et al. (2013) 
    Molecular Genetics & Genomic Medicine1(4) pp. 223-237.​
    Details  DOI 
  • 2012 Journal Article
    ​ Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish
    Asharani, P. V.; Keupp, K.; Semler, O.; Wang, W.; Li, Y. ; Thiele, H. & Yigit, G.  et al. (2012) 
    American journal of human genetics90(4) pp. 661-674.​
    Details  DOI  PMID  PMC  WoS 
  • 2011 Journal Article
    ​ CEP152 is a genome maintenance protein disrupted in Seckel syndrome
    Kalay, E.; Yigit, G. ; Aslan, Y.; Brown, K. E.; Pohl, E.; Bicknell, L. S. & Kayserili, H. et al. (2011) 
    Nature Genetics43(1) pp. 23-26.​
    Details  DOI  PMID  PMC  WoS 
  • 2011 Journal Article
    ​ A mutation screen in patients with Kabuki syndrome
    Li, Y. ; Boegershausen, N.; Alanay, Y.; Kiper, P. O. S.; Plume, N.; Keupp, K. & Pohl, E. et al. (2011) 
    Human Genetics130(6) pp. 715-724.​
    Details  DOI  PMID  PMC  WoS 
  • 2010 Journal Article
    ​ Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling
    Li, Y. ; Laue, K.; Temtamy, S.; Aglan, M.; Kotan, L. D.; Yigit, G.   & Canan, H. et al. (2010) 
    American journal of human genetics87(6) pp. 757-767.​
    Details  DOI  PMID  PMC  WoS 
  • 2010 Journal Article
    ​ LRP4 Mutations Alter Wnt/beta-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome
    Li, Y. ; Pawlik, B.; Elcioglu, N. H.; Aglan, M.; Kayserili, H.; Yigit, G.   & Percin, E. F. et al. (2010) 
    American journal of human genetics86(5) pp. 696-706.​
    Details  DOI  PMID  PMC  WoS 
  • 2009 Journal Article
    ​ ALX4 dysfunction disrupts craniofacial and epidermal development
    Kayserili, H.; Uz, E.; Niessen, C.; Vargel, I.; Alanay, Y.; Tuncbilek, G. & Yigit, G.  et al. (2009) 
    Human Molecular Genetics18(22) pp. 4357-4366.​
    Details  DOI  PMID  PMC  WoS 

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