List of works - Ender Karaca

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

scientific journal article

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 VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

scientific article published in Nature Communications

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

scientific article published on 13 August 2019

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

scientific article published on 30 April 2018

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

scientific article published on 01 January 2020

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 in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

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

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

scientific article published on November 2015

Genetic architecture of laterality defects revealed by whole exome sequencing

scientific article published on 08 January 2019

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 and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

scientific article

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

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

article

Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration

scientific journal article

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

NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity

scientific article published on 26 October 2020

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

scientific article

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

scientific article published on 27 June 2019

Phenotypic expansion illuminates multilocus pathogenic variation.

scientific article

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

scientific article

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

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

scientific article published on 20 June 2019

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 identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia.

scientific article published on 5 May 2015

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

scientific article

List of works by Ender Karaca

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

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 VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

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

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 in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

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

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

Genetic architecture of laterality defects revealed by whole exome sequencing

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 and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

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

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration

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

NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Phenotypic expansion illuminates multilocus pathogenic variation.

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

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

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

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 identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia.

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