List of works - Janine Altmüller

Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer

scientific article

Comprehensive genomic profiles of small cell lung cancer

scientific article published on 13 July 2015

Frequent and focal FGFR1 amplification associates with therapeutically tractable FGFR1 dependency in squamous cell lung cancer.

scientific article

Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction

scientific article

Lifestyle transitions in plant pathogenic Colletotrichum fungi deciphered by genome and transcriptome analyses

scientific article

Genomewide scans of complex human diseases: true linkage is hard to find

scientific article

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

scientific article

Telomerase activation by genomic rearrangements in high-risk neuroblastoma

scientific article published on 14 October 2015

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

scientific article published on 11 August 2013

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

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

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

scientific article

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

scientific article published in April 2012

Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids

scientific article

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

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

CD74-NRG1 fusions in lung adenocarcinoma

scientific article published on 27 January 2014

Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.

scientific article published on 22 December 2017

Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway

scientific article

Benchmarking of mutation diagnostics in clinical lung cancer specimens

scientific article (publication date: 5 May 2011)

RNA-Seq Analysis of Human Trigeminal and Dorsal Root Ganglia with a Focus on Chemoreceptors

scientific article

Comprehensive RNA-Seq expression analysis of sensory ganglia with a focus on ion channels and GPCRs in Trigeminal ganglia

scientific article

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

Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex

scientific journal article

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

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

Human trace amine-associated receptor TAAR5 can be activated by trimethylamine

scientific article published in 2013

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

Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing data

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

Implementation of Amplicon Parallel Sequencing Leads to Improvement of Diagnosis and Therapy of Lung Cancer Patients

scientific article published on July 2015

Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families

scientific article

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

scientific article published on 17 December 2015

Deep sequencing of the murine olfactory receptor neuron transcriptome

scientific article

Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant

scientific article

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

article

List of works by Janine Altmüller

Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer

Comprehensive genomic profiles of small cell lung cancer

Frequent and focal FGFR1 amplification associates with therapeutically tractable FGFR1 dependency in squamous cell lung cancer.

Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction

Lifestyle transitions in plant pathogenic Colletotrichum fungi deciphered by genome and transcriptome analyses

Genomewide scans of complex human diseases: true linkage is hard to find

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

Telomerase activation by genomic rearrangements in high-risk neuroblastoma

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

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

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

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

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

Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids

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

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

CD74-NRG1 fusions in lung adenocarcinoma

Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.

Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway

Benchmarking of mutation diagnostics in clinical lung cancer specimens

RNA-Seq Analysis of Human Trigeminal and Dorsal Root Ganglia with a Focus on Chemoreceptors

Comprehensive RNA-Seq expression analysis of sensory ganglia with a focus on ion channels and GPCRs in Trigeminal ganglia

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

Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex

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

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

Human trace amine-associated receptor TAAR5 can be activated by trimethylamine

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

Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing data

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

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

Implementation of Amplicon Parallel Sequencing Leads to Improvement of Diagnosis and Therapy of Lung Cancer Patients

Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

Deep sequencing of the murine olfactory receptor neuron transcriptome

Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant

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