List of works - Kaya Bilguvar

A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia

scientific article published on September 2016

A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group

scientific article published on 29 September 2009

A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation

scientific article published in December 2007

AAV-mediated direct in vivo CRISPR screen identifies functional suppressors in glioblastoma

scientific article published on 14 August 2017

Absence of KMT2D/MLL2 mutations in abdominal paraganglioma

scientific article published on 25 August 2015

Abstract 24: Two Locus Inheritance of Non-Syndromic Midline Craniosynostosis Via Rare SMAD6 and Common BMP2 Alleles.

scientific article published in April 2017

Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts

scientific article published in April 2007

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly

scientific article

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

scientific article published on 16 July 2018

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

scientific article published on 16 January 2017

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration

scientific article

COL4A1 mutation in preterm intraventricular hemorrhage

scientific article

Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy

scientific article published on 19 October 2015

Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia

scientific article published on 14 November 2014

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

scientific journal article

Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening

scientific article published on 13 April 2015

Familial occurrence of brain arteriovenous malformation: a novel ACVRL1 mutation detected by whole exome sequencing

scientific article published on 9 September 2016

Genetics Of Intracranial Aneurysms

article

Genome-wide association study of intracranial aneurysm identifies three new risk loci

scientific article

Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans

scientific article

Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

scientific article published on December 2016

L-histidine decarboxylase and Tourette's syndrome

scientific article

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

scientific journal article

Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion

scientific article published on 15 August 2012

Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome

scientific article published on 9 July 2015

Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities

scientific article

Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3.

scientific article

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy

scientific article

Neuroprotective effects of Ac.YVAD.cmk on experimental spinal cord injury in rats

scientific article published on 8 February 2008

Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population

scientific article published on 6 March 2008

Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy

scientific article published on 15 January 2010

Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports

scientific article published on 16 February 2016

Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutations

scientific article published on 10 July 2014

Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family: changing clinical and radiological findings with long-term follow-up

scientific article published on 12 May 2014

Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism

scientific article published on 14 December 2011

Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration

scientific article

Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence?

scientific article

Somatic V600E BRAF Mutation in Linear and Sporadic Syringocystadenoma Papilliferum

scientific article

Spondyloepimetaphyseal dysplasia Pakistani type: Expansion of the phenotype ⬇️

scientific article published on April 30, 2013

Spontaneous tumour regression in keratoacanthomas is driven by Wnt/retinoic acid signalling cross-talk

scientific article published on 26 March 2014

Susceptibility loci for intracranial aneurysm in European and Japanese populations

scientific article

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

scientific article

The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis

scientific article

Therapeutic efficacy of Ac-DMQD-CHO, a caspase 3 inhibitor, for rat spinal cord injury

scientific article published on 2 April 2008

Therapeutic efficacy of SJA6017, a calpain inhibitor, in rat spinal cord injury

scientific article published on 24 July 2008

Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

scientific article

List of works by Kaya Bilguvar

A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia

A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group

A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation

AAV-mediated direct in vivo CRISPR screen identifies functional suppressors in glioblastoma

Absence of KMT2D/MLL2 mutations in abdominal paraganglioma

Abstract 24: Two Locus Inheritance of Non-Syndromic Midline Craniosynostosis Via Rare SMAD6 and Common BMP2 Alleles.

Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration

COL4A1 mutation in preterm intraventricular hemorrhage

Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy

Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening

Familial occurrence of brain arteriovenous malformation: a novel ACVRL1 mutation detected by whole exome sequencing

Genetics Of Intracranial Aneurysms

Genome-wide association study of intracranial aneurysm identifies three new risk loci

Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans

Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

L-histidine decarboxylase and Tourette's syndrome

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion

Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome

Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities

Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3.

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy

Neuroprotective effects of Ac.YVAD.cmk on experimental spinal cord injury in rats

Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population

Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy

Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports

Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutations

Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family: changing clinical and radiological findings with long-term follow-up

Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism

Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration

Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence?

Somatic V600E BRAF Mutation in Linear and Sporadic Syringocystadenoma Papilliferum

Spondyloepimetaphyseal dysplasia Pakistani type: Expansion of the phenotype ⬇️

Spontaneous tumour regression in keratoacanthomas is driven by Wnt/retinoic acid signalling cross-talk

Susceptibility loci for intracranial aneurysm in European and Japanese populations

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis

Therapeutic efficacy of Ac-DMQD-CHO, a caspase 3 inhibitor, for rat spinal cord injury

Therapeutic efficacy of SJA6017, a calpain inhibitor, in rat spinal cord injury

Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles