List of works - Hulya Kayserili

A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis

scientific article published on 13 February 2018

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

scientific article published in August 2013

A large duplication involving the IHH locus mimics acrocallosal syndrome

scientific article

A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats

scientific article

A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

scientific article published on 11 April 2016

A novel c.1255G>T (p.D419Y) mutation in SH3BP2 gene causes cherubism in a Turkish family ⬇️

scientific article published on May 12, 2012

ALX4 dysfunction disrupts craniofacial and epidermal development

scientific article

Angelman syndrome: clinical findings and follow-up data of 14 patients.

scientific article

Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

scientific article published on 19 October 2020

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance

scientific article

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

scientific article

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

scientific article published on 16 January 2017

C5orf42 is the major gene responsible for OFD syndrome type VI.

scientific article published on November 2013

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

scientific article

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

scientific article

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

scientific article

CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children

scientific article

Cantú syndrome is caused by mutations in ABCC9.

scientific article

Cardiovascular abnormalities in Williams syndrome: 20 years’ experience in Istanbul ⬇️

scientific article published on December 1, 2012

Characteristic dental pattern with hypodontia and short roots in Fraser syndrome

scientific article published on 02 June 2020

Clinical exome sequencing in neuromuscular diseases: an experience from Turkey

scientific article published on 05 March 2020

Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review

scientific article published on 11 January 2014

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome

scientific article

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

scientific article

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

scientific article

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

scientific article

Down Syndrome Diagnosis Based on Gabor Wavelet Transform ⬇️

scientific article published on November 30, 2011

Evaluation of coronary artery abnormalities in Williams syndrome patients using myocardial perfusion scintigraphy and CT angiography ⬇️

scientific article published on January 1, 2012

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

scientific article (publication date: May 2013)

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

scientific journal article

Extreme growth failure is a common presentation of ligase IV deficiency

scientific article

Genotypic and phenotypic analysis of 396 individuals with mutations inSonic Hedgehog ⬇️

scientific article published on July 1, 2012

Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

scientific article

Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family

scientific article

Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis

scientific article published on 26 July 2018

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

scientific article

Loss of Iroquois homeobox transcription factors 3 and 5 in osteoblasts disrupts cranial mineralization

scientific article published on 13 April 2016

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

scientific article published on 11 September 2020

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

scientific article

Multiple supernumerary molars, anterior openbite, and large ear lobules in mucopolysaccharidosis type VI patient ⬇️

scientific article published on 08 June 2012

Multiple synostoses syndrome in three members of a family displaying a novel mutation in NOGGIN gene ⬇️

scientific article published on June 1, 2013

Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy

scientific article

Mutations in CDK5RAP2 cause Seckel syndrome

scientific article

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

scientific article published on 06 May 2016

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

scientific article

Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1

scientific article

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

scientific article

Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors

scientific article published on December 2014

Mutations in PYCR1 cause cutis laxa with progeroid features

scientific article

Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome ⬇️

scientific article published on December 22, 2011

Mutations in WNT1 cause different forms of bone fragility

scientific article

Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis

scientific article

Mutations in different components of FGF signaling in LADD syndrome

scientific article

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria

scientific article

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

scientific article

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway

scientific article (publication date: 4 September 2014)

Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology

scientific article published on 21 May 2021

Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness

scientific article

Prenatal diagnosis of frontonasal dysplasia with anterior encephalocele

scientific article published on March 2013

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

scientific article

Responsible implementation of expanded carrier screening

scientific article published on 16 March 2016

Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

scientific article

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport ⬇️

scientific article

Teratogenicity of Antiepileptic Drugs

scientific article published on February 2017

Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings

scientific article published on 18 December 2018

The genetic basis of DOORS syndrome: an exome-sequencing study

scientific article

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity

scientific article

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

scientific article published on 10 December 2018

List of works by Hulya Kayserili

A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

A large duplication involving the IHH locus mimics acrocallosal syndrome

A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats

A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

A novel c.1255G&gt;T (p.D419Y) mutation in SH3BP2 gene causes cherubism in a Turkish family ⬇️

ALX4 dysfunction disrupts craniofacial and epidermal development

Angelman syndrome: clinical findings and follow-up data of 14 patients.

Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

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

C5orf42 is the major gene responsible for OFD syndrome type VI.

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

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

CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children

Cantú syndrome is caused by mutations in ABCC9.

Cardiovascular abnormalities in Williams syndrome: 20 years’ experience in Istanbul ⬇️

Characteristic dental pattern with hypodontia and short roots in Fraser syndrome

Clinical exome sequencing in neuromuscular diseases: an experience from Turkey

Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome

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

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

Down Syndrome Diagnosis Based on Gabor Wavelet Transform ⬇️

Evaluation of coronary artery abnormalities in Williams syndrome patients using myocardial perfusion scintigraphy and CT angiography ⬇️

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

Extreme growth failure is a common presentation of ligase IV deficiency

Genotypic and phenotypic analysis of 396 individuals with mutations inSonic Hedgehog ⬇️

Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family

Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis

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

Loss of Iroquois homeobox transcription factors 3 and 5 in osteoblasts disrupts cranial mineralization

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Multiple supernumerary molars, anterior openbite, and large ear lobules in mucopolysaccharidosis type VI patient ⬇️

Multiple synostoses syndrome in three members of a family displaying a novel mutation in NOGGIN gene ⬇️

Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy

Mutations in CDK5RAP2 cause Seckel syndrome

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors

Mutations in PYCR1 cause cutis laxa with progeroid features

Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome ⬇️

Mutations in WNT1 cause different forms of bone fragility

Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis

Mutations in different components of FGF signaling in LADD syndrome

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway

Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology

Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness

Prenatal diagnosis of frontonasal dysplasia with anterior encephalocele

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

Responsible implementation of expanded carrier screening

Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport ⬇️

Teratogenicity of Antiepileptic Drugs

Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings

The genetic basis of DOORS syndrome: an exome-sequencing study

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

A novel c.1255G>T (p.D419Y) mutation in SH3BP2 gene causes cherubism in a Turkish family ⬇️