List of works - Gökhan Yigit

A mutation screen in patients with Kabuki syndrome

scientific article

Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish

scientific article published in April 2012

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

scientific article

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

scientific article

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

scientific article

Epstein-Barr virus LMP2A signaling in statu nascendi mimics a B cell antigen receptor-like activation signal ⬇️

scientific article published on April 3, 2012

Extreme growth failure is a common presentation of ligase IV deficiency

scientific article

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome

scientific article

Mutations in CDK5RAP2 cause Seckel syndrome

scientific article

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

scientific article

Mutations in WNT1 cause different forms of bone fragility

scientific article

Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability

scientific article

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis

scientific article published on 19 August 2013

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies

scientific article published on 11 July 2012

Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations

scientific journal article

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

scientific article

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

scientific article

Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling

scientific article

List of works by Gökhan Yigit

A mutation screen in patients with Kabuki syndrome

Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Epstein-Barr virus LMP2A signaling in statu nascendi mimics a B cell antigen receptor-like activation signal ⬇️

Extreme growth failure is a common presentation of ligase IV deficiency

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome

Mutations in CDK5RAP2 cause Seckel syndrome

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

Mutations in WNT1 cause different forms of bone fragility

Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies

Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling