List of works - Janine Altmüller

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

scientific article

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula

scientific article published on 3 May 2017

A large deletion in RPGR causes XLPRA in Weimaraner dogs

scientific article published on 08 July 2016

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

scientific article

A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family

scientific article published on 30 November 2015

A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype

scientific article

A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation

scientific article published on 6 December 2015

A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product

scientific article

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

scientific article

Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

scientific article published on 10 October 2017

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

article

Apoptotic cleavage of DNA in human lymphocyte chromatin shows high sequence specificity

scientific article published in January 2012

Assessing the enrichment performance in targeted resequencing experiments

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

Association of ALPL and ENPP1 gene polymorphisms with bone strength related skeletal traits in a Chuvashian population

scientific article published on 27 November 2009

Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE).

scientific article published on 13 May 2017

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

scientific article

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

scientific article published in April 2012

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

scientific article

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

scientific article published on 24 January 2018

Benchmarking of mutation diagnostics in clinical lung cancer specimens

scientific article (publication date: 5 May 2011)

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

scientific article published on 17 December 2015

Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

CD74-NRG1 fusions in lung adenocarcinoma

scientific article published on 27 January 2014

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

scientific article

Characterization of non-olfactory GPCRs in human sperm with a focus on GPR18

scientific article

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

scientific article

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

scientific article

Comprehensive genomic profiles of small cell lung cancer

scientific article published on 13 July 2015

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.

scientific article published in April 2017

DEPDC5 mutations in genetic focal epilepsies of childhood.

scientific article published on 14 April 2014

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

scientific article published in November 2017

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

scientific article

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

scientific article

Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia

scientific article published on 5 April 2013

Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development

Enrichment of target sequences for next-generation sequencing applications in research and diagnostics

scientific article published on February 2014

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

scientific article

Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS).

scientific article published on 29 November 2017

Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome

scientific article

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy

scientific article

Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy

scientific article published on 19 February 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

Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids

scientific article

Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

scientific article published on 9 March 2018

Genetic determinants of circulating levels of tumor necrosis factor receptor II and their association with TNF-RII gene polymorphisms

scientific article published on 21 May 2010

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

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

High-resolution SNP scan of chromosome 6p21 in pooled samples from patients with complex diseases

scientific article

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome

scientific article

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

scientific article published in 2013

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

scientific article published on 27 April 2017

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

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

scientific article published on July 2015

Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing

scientific article published on 20 January 2016

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

scientific article

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

scientific article

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

scientific article

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

scientific journal article

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

scientific article published on November 2011

Mutation of POC1B in a severe syndromic retinal ciliopathy

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

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

scientific article

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

scientific article published on 12 September 2013

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

scientific article published on 11 August 2013

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

scientific article

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

scientific article

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

scientific article published on 6 September 2018

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

scientific journal article

Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability

scientific article

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome ⬇️

article

Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy

scientific article published on 16 April 2018

Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa

scientific article published on 13 March 2017

Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy

scientific article published on 18 March 2016

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene

scientific article published on 23 January 2015

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

scientific article

Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum

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

scientific article

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

scientific journal article

Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1).

scientific article published on 20 October 2017

RBFOX1 and RBFOX3 mutations in rolandic epilepsy

scientific article

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

scientific article

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

scientific article

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

article

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

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

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

scientific article

SOX9 duplication linked to intersex in deer

scientific article

STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly

scientific article published on 14 September 2014

Sensitive detection of viral transcripts in human tumor transcriptomes

scientific article

Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3

scientific journal article

Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism.

scientific article

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

scientific article

Telomerase activation by genomic rearrangements in high-risk neuroblastoma

scientific article published on 14 October 2015

The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer

scientific article

The genome of Romanomermis culicivorax: revealing fundamental changes in the core developmental genetic toolkit in Nematoda

scientific article

The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family

scientific article published on 4 November 2016

Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit

scientific article published on 30 May 2016

X chromosomal variation is associated with slow progression to AIDS in HIV-1-infected women

scientific article published on August 2009

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

scientific article

List of works by Janine Altmüller

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

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula

A large deletion in RPGR causes XLPRA in Weimaraner dogs

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

A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family

A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype

A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation

A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product

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

Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

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

Apoptotic cleavage of DNA in human lymphocyte chromatin shows high sequence specificity

Assessing the enrichment performance in targeted resequencing experiments

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

Association of ALPL and ENPP1 gene polymorphisms with bone strength related skeletal traits in a Chuvashian population

Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE).

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

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

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

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

Benchmarking of mutation diagnostics in clinical lung cancer specimens

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

CD74-NRG1 fusions in lung adenocarcinoma

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

Characterization of non-olfactory GPCRs in human sperm with a focus on GPR18

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

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

Comprehensive genomic profiles of small cell lung cancer

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.

DEPDC5 mutations in genetic focal epilepsies of childhood.

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

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

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

Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia

Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development

Enrichment of target sequences for next-generation sequencing applications in research and diagnostics

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS).

Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy

Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy

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

Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids

Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

Genetic determinants of circulating levels of tumor necrosis factor receptor II and their association with TNF-RII gene polymorphisms

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

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

High-resolution SNP scan of chromosome 6p21 in pooled samples from patients with complex diseases

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome

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

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

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

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

Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing

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

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

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

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

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

Mutation of POC1B in a severe syndromic retinal ciliopathy

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

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

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

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

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

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

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome ⬇️

Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy

Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa

Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene

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

Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum

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