List of works - Davut Pehlivan

A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship

scientific article published on 5 October 2012

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

scientific journal article

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.

scientific article

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry

scientific article

Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

scientific article published on 01 October 2020

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay

scientific article published on 25 October 2018

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders

scientific article published on 17 October 2019

Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy

scientific article published on 11 July 2019

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

scientific article published on 14 April 2020

Biallelic Pathogenic Variants in <i>TNNT3</i> Associated With Congenital Myopathy

scientific article published on 26 April 2021

Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy

scientific article published on 04 October 2020

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

scientific article

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

scientific article published on August 2016

Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL

scientific article

Curcumin facilitates a transitory cellular stress response in Trembler-J mice

scientific article published on 11 July 2013

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability

scientific article published on 01 January 2020

Downregulation of ING3 mRNA expression predicts poor prognosis in head and neck cancer.

scientific article

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

scientific article

Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.

scientific article

Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease

scientific article published on 01 August 2019

Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis

scientific article published on 17 April 2015

Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D

scientific article

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

scientific article published on 06 May 2020

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

scientific article published on November 2015

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

scientific article

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

scientific article published on 24 October 2019

Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism

scientific article published on 16 March 2015

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function

scientific article

Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome

scientific article published on 22 May 2020

Insights into genetics, human biology and disease gleaned from family based genomic studies

scientific article published on 18 January 2019

Insights into genetics, human biology and disease gleaned from family based genomic studies

article

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

scientific article published on 2 October 2011

Loss of heterozygosity at chromosome 14q is associated with poor prognosis in head and neck squamous cell carcinomas

scientific article published on 03 June 2008

Metastasis: Genetics, Mechanism, and Diagnostic and Therapeutic Strategies ⬇️

scientific article published on December 30, 2012

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

scientific article published on 11 January 2016

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

scientific article

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

scientific article

Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly

scientific article

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

scientific article published on 15 September 2020

NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation

scientific article published on 5 January 2012

One Genetic Defect and Two Related Entities in Monozygotic Twins: Otosclerosis and Superior Semicircular Canal Near Dehiscence Syndrome

scientific article published in 2022

Phenotypic Expansion in KIF1A-related Dominant Disorders: A Description of Novel Variants and Review of Published Cases

scientific article published on 15 September 2020

Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation

scientific article published on 29 July 2015

Phenotypic expansion illuminates multilocus pathogenic variation.

scientific article

Phenotypic expansion in - a common cause of intellectual disability in females

scientific article published on 15 September 2018

Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses

scientific article published on 24 November 2021

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

scientific article published in July 2017

Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome

scientific article

Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome

scientific article published on 17 April 2014

Replicative mechanisms for CNV formation are error prone

scientific article published on 22 September 2013

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

scientific article published on 14 January 2019

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

scientific article published on 20 June 2019

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.

scientific article

Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome

article

Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome

scientific article

Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia

scientific article

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

scientific article published on 14 November 2019

List of works by Davut Pehlivan

A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry

Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders

Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

Biallelic Pathogenic Variants in <i>TNNT3</i> Associated With Congenital Myopathy

Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL

Curcumin facilitates a transitory cellular stress response in Trembler-J mice

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability

Downregulation of ING3 mRNA expression predicts poor prognosis in head and neck cancer.

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.

Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease

Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis

Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function

Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome

Insights into genetics, human biology and disease gleaned from family based genomic studies

Insights into genetics, human biology and disease gleaned from family based genomic studies

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

Loss of heterozygosity at chromosome 14q is associated with poor prognosis in head and neck squamous cell carcinomas

Metastasis: Genetics, Mechanism, and Diagnostic and Therapeutic Strategies ⬇️

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation

One Genetic Defect and Two Related Entities in Monozygotic Twins: Otosclerosis and Superior Semicircular Canal Near Dehiscence Syndrome

Phenotypic Expansion in KIF1A-related Dominant Disorders: A Description of Novel Variants and Review of Published Cases

Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation

Phenotypic expansion illuminates multilocus pathogenic variation.

Phenotypic expansion in - a common cause of intellectual disability in females

Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome

Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome

Replicative mechanisms for CNV formation are error prone

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.

Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome

Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome

Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome