List of works - Holger Thiele

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

scientific article

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

scientific article published on 11 August 2013

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

scientific article

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

scientific article

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function

scientific article

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

scientific article

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study

scientific article published on 30 July 2012

Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

scholarly article

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

scientific article published in April 2012

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

scientific article

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

scientific article

A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome

scientific article

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

scientific article published on 2 November 2014

Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas

scientific article published on 20 January 2015

Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical Trial

scientific article

RBFOX1 and RBFOX3 mutations in rolandic epilepsy

scientific article

Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length

scientific article published on 2 April 2013

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

scientific article

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

scientific article

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations

scientific article published on 9 April 2002

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability

scientific article published on 03 July 2013

DEPDC5 mutations in genetic focal epilepsies of childhood

scientific article published on 14 April 2014

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss

scientific article

Complex karyotypes and KRAS and POT1 mutations impact outcome in CLL after chlorambucil-based chemotherapy or chemoimmunotherapy

scientific article

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome

scientific article published on 7 January 2016

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome

scientific article

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome

scientific article published on November 2011

eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation

scientific article

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

scientific article

Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer

scientific article published on 29 December 2016

Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum

scientific article

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

scientific journal article

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

scientific article

A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations

scientific article

Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression

scientific article published on November 1, 2010

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

scientific article published on 17 December 2015

Schizophrenia risk polymorphisms in the TCF4 gene interact with smoking in the modulation of auditory sensory gating

scientific article

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

scientific article

A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10

scientific article

Analysis ofELP4,SRPX2, and interacting genes in typical and atypical rolandic epilepsy

article

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

scientific article

Dysfunction of the MDM2/p53 axis is linked to premature aging

scientific article published on 28 August 2017

Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes

scientific article

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

scientific article

A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy

scientific article published on 31 October 2014

CHD2 variants are a risk factor for photosensitivity in epilepsy

scientific article published on 17 March 2015

Assessing the enrichment performance in targeted resequencing experiments

scientific article

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction

scientific article published on 12 September 2013

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

scientific article published on 19 September 2015

Mutation of POC1B in a severe syndromic retinal ciliopathy

scientific article

List of works by Holger Thiele

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study

Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

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

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas

Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical Trial

RBFOX1 and RBFOX3 mutations in rolandic epilepsy

Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length

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

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability

DEPDC5 mutations in genetic focal epilepsies of childhood

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss

Complex karyotypes and KRAS and POT1 mutations impact outcome in CLL after chlorambucil-based chemotherapy or chemoimmunotherapy

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome

eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer

Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum

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

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

A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations

Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

Schizophrenia risk polymorphisms in the TCF4 gene interact with smoking in the modulation of auditory sensory gating

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10

Analysis ofELP4,SRPX2, and interacting genes in typical and atypical rolandic epilepsy

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

Dysfunction of the MDM2/p53 axis is linked to premature aging

Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes

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

A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy

CHD2 variants are a risk factor for photosensitivity in epilepsy

Assessing the enrichment performance in targeted resequencing experiments

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

Mutation of POC1B in a severe syndromic retinal ciliopathy