List of works - Christian Kubisch

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

scientific article

A high-density association screen of 155 ion transport genes for involvement with common migraine

scientific article

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome

scientific article published on 22 October 2010

A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly

scientific article published on 30 August 2012

A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss

scientific article

A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats

scientific article

A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan

scientific article published on 11 November 2008

A potassium channel mutation in neonatal human epilepsy

scientific article

A rare missense variant abrogates the signaling activity of tetherin/BST-2 without affecting its effect on virus release

scientific article

AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance

scientific article published on 10 June 2017

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome

scientific article

Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C.

scientific article

Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients

scientific article published on 18 May 2016

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

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

scientific article

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

scientific article

Clinical utility gene card for: Werner Syndrome--Update 2014.

scientific article published on 3 September 2014

Clinical utility gene card for: Werner syndrome

scientific article published on 18 January 2012

Closing the case ofAPOEin multiple sclerosis: no association with disease risk in over 29 000 subjects: Figure 1

Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families

article by Padhraig Gormley et al published September 2018 in Neuron

Concordance of genetic risk across migraine subgroups: Impact on current and future genetic association studies

scientific article published on September 2014

Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid

scientific article

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

scientific article

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

scientific article

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

scientific article

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

scientific article published on 28 August 2017

Early-onset familial hemiplegic migraine due to a novel SCN1A mutation

scientific article published on 12 January 2016

Erratum: Corrigendum: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

scientific article published in October 2016

Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry

scientific article published on May 2013

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

scientific article

Exon skipping and severe childhood‐onset obesity caused by a leptin receptor mutation ⬇️

scientific article published on August 15, 2013

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

scientific article published on 11 March 2014

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features

scientific article

Gene co-expression analysis identifies brain regions and cell types involved in migraine pathophysiology: a GWAS-based study using the Allen Human Brain Atlas

scientific article published on 22 February 2016

Gene-based pleiotropy across migraine with aura and migraine without aura patient groups

scientific article published on 8 December 2015

Genetic analysis for a shared biological basis between migraine and coronary artery disease

scientific article published on June 2015

Genome-wide association analysis identifies susceptibility loci for migraine without aura

scientific article

Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.

scientific article

Genome-wide association study reveals three susceptibility loci for common migraine in the general population

scientific article

Genome-wide meta-analysis identifies new susceptibility loci for migraine

scientific article

Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk

scientific article published on 12 January 2013

Genome-wide significant association with seven novel multiple sclerosis risk loci

scientific article

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

scientific article

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

scientific journal article

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe

scientific journal article

Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients

scientific article

Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin

scientific article (publication date: June 2003)

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts

scientific article

Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis

scientific article

Involvement of astrocyte and oligodendrocyte gene sets in migraine

scientific article published on 7 December 2015

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

scientific article

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

scientific article

MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis

scientific article published on June 2013

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

scientific article

Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation

scientific article published on January 1, 1998

Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death

scientific article

Mutation analysis in myophosphorylase deficiency (McArdle's disease) ⬇️

scientific article published on 01 March 1998

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease

scientific article (publication date: July 2001)

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

scientific article (publication date: April 2003)

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

scientific article

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss

scientific article

Mutations in different components of FGF signaling in LADD syndrome

scientific article

Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis

scientific article (publication date: 12 August 2000)

Neurofilaments in the diagnosis of motoneuron diseases: a prospective study on 455 patients

scientific article published on 21 August 2015

POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

scientific article

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism

scientific article

Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases

scientific article published on 4 December 2013

Rare hereditary diseases with defects in DNA-repair

scientific article published on July 2012

Rare missense variants in ATP1A2 in families with clustering of common forms of migraine

scientific article

STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly

scientific article published on 14 September 2014

Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy

scientific article

Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.

scientific article

Shared genetic basis for migraine and ischemic stroke: A genome-wide analysis of common variants.

scientific article published in May 2015

Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics

scientific article published on 18 March 2013

Systematic re-evaluation of genes from candidate gene association studies in migraine using a large genome-wide association data set.

scientific article

The rapid evolution of molecular genetic diagnostics in neuromuscular diseases

scientific article published on 29 June 2017

Variants in the 3'UTR of SNCA do not affect miRNA-433 binding and alpha-synuclein expression

scientific article

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations

scientific article

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

scientific article

List of works by Christian Kubisch

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

A high-density association screen of 155 ion transport genes for involvement with common migraine

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome

A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly

A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss

A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats

A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan

A potassium channel mutation in neonatal human epilepsy

A rare missense variant abrogates the signaling activity of tetherin/BST-2 without affecting its effect on virus release

AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome

Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C.

Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients

Analysis of shared heritability in common disorders of the brain

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

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

Clinical utility gene card for: Werner Syndrome--Update 2014.

Clinical utility gene card for: Werner syndrome

Closing the case ofAPOEin multiple sclerosis: no association with disease risk in over 29 000 subjects: Figure 1

Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families

Concordance of genetic risk across migraine subgroups: Impact on current and future genetic association studies

Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

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

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

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

Early-onset familial hemiplegic migraine due to a novel SCN1A mutation

Erratum: Corrigendum: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry

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

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

Exon skipping and severe childhood‐onset obesity caused by a leptin receptor mutation ⬇️

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features

Gene co-expression analysis identifies brain regions and cell types involved in migraine pathophysiology: a GWAS-based study using the Allen Human Brain Atlas

Gene-based pleiotropy across migraine with aura and migraine without aura patient groups

Genetic analysis for a shared biological basis between migraine and coronary artery disease

Genome-wide association analysis identifies susceptibility loci for migraine without aura

Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.

Genome-wide association study reveals three susceptibility loci for common migraine in the general population

Genome-wide meta-analysis identifies new susceptibility loci for migraine

Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk

Genome-wide significant association with seven novel multiple sclerosis risk loci

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe

Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients

Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts

Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis

Involvement of astrocyte and oligodendrocyte gene sets in migraine

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation

Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death

Mutation analysis in myophosphorylase deficiency (McArdle's disease) ⬇️

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

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

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss

Mutations in different components of FGF signaling in LADD syndrome

Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis

Neurofilaments in the diagnosis of motoneuron diseases: a prospective study on 455 patients

POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism

Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases

Rare hereditary diseases with defects in DNA-repair

Rare missense variants in ATP1A2 in families with clustering of common forms of migraine

STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly

Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy

Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.

Shared genetic basis for migraine and ischemic stroke: A genome-wide analysis of common variants.

Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics

Systematic re-evaluation of genes from candidate gene association studies in migraine using a large genome-wide association data set.

The rapid evolution of molecular genetic diagnostics in neuromuscular diseases

Variants in the 3'UTR of SNCA do not affect miRNA-433 binding and alpha-synuclein expression

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations