List of works - Franz Rüschendorf

4th Pediatric Allergy and Asthma Meeting (PAAM)

scientific article (publication date: November 2016)

A European study on the genetics of mite sensitization

article

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

scientific article published in 2021

A common haplotype of the IL-31 gene influencing gene expression is associated with nonatopic eczema

scientific article published on 27 September 2007

A common variant on chromosome 11q13 is associated with atopic dermatitis.

scientific article published on 6 April 2009

A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitis

scientific article

A genetic basis for mechanosensory traits in humans

scientific article

A genome-wide association study reveals 2 new susceptibility loci for atopic dermatitis.

scientific article published on 10 April 2015

A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults

scientific article

A novel locus for arterial hypertension on chromosome 1p36 maps to a metabolic syndrome trait cluster in the Sorbs, a Slavic population isolate in Germany.

scientific article published in May 2009

A systematic approach to mapping recessive disease genes in individuals from outbred populations

scientific article

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

scientific article

Age-of-onset information helps identify 76 genetic variants associated with allergic disease

scientific article published on 30 June 2020

Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss

scientific article published on 16 June 2016

Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy

scientific article published in October 2002

Author Correction: Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis

scientific article published on 01 September 2018

Canadian genome-wide association study and meta-analysis confirm HLA as a risk factor for peanut allergy independent of asthma.

scientific article published on 8 January 2018

Characterization of Nob3, a major quantitative trait locus for obesity and hyperglycemia on mouse chromosome 1.

scientific article published on 26 May 2009

Childhood Hypertension in Autosomal-Dominant Hypertension With Brachydactyly

scientific article published on 13 September 2010

Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α

scientific article

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

scientific article published in October 2006

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

scientific article published on 22 October 2019

Eleven loci with new reproducible genetic associations with allergic disease risk.

scientific article published on 18 April 2018

Evaluation of food allergy candidate loci in the Genetics of Food Allergy study

article

Evidence for linkage of the bladder exstrophy-epispadias complex on chromosome 4q31.21-22 and 19q13.31-41 from a consanguineous Iranian family.

scientific article published in September 2010

Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.

scientific article

Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march.

scientific article published in September 2006

G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth

scientific article

Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families

scientific article published on 11 November 2020

Genome scan for childhood and adolescent obesity in German families.

scientific article published in February 2003

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

scientific article

Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis

scholarly article by Johannes Waage et al published August 2018 in Nature Genetics

Genome-wide association study identifies the SERPINB gene cluster as a susceptibility locus for food allergy.

scientific article published on 20 October 2017

Genome-wide linkage analysis of malaria infection intensity and mild disease

scientific article published on March 2007

Genome-wide linkage analysis reveals evidence for four new susceptibility loci for familial euthyroid goiter

scientific article published on 01 August 2004

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

article

Genome-wide linkage scan for bladder exstrophy-epispadias complex

scientific article published on February 2009

Genomewide Linkage Analysis Identifies Novel Genetic Loci for Lung Function in Mice

article

Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation

scientific article published on May 2009

Haplotypes of dopamine and serotonin transporter genes are associated with antisocial personality disorder in alcoholics

scientific article published in August 2010

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.

scientific article published on 21 November 2006

ICOS-gene variants are not associated with atopic disease susceptibility in European children

scientific article

IL13 variants are associated with total serum IgE and early sensitization to food allergens in children with atopic dermatitis

scientific article published on 10 June 2009

Inflammatory skin and bowel disease linked to ADAM17 deletion

scientific article published in October 2011

Linkage Evidence for a Two-Locus Inheritance of LQT-Associated Seizures in a Multigenerational LQT Family With a Novel KCNQ1 Loss-of-Function Mutation

scientific article published on 25 June 2019

Linkage analysis of alcohol dependence using MOD scores

scientific article

Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36

scientific article

Meta-analysis identifies seven susceptibility loci involved in the atopic march

scientific article

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays

scientific article published on 29 June 2007

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

scientific article published on 19 October 2015

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

scientific article

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

scientific article

Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy

scientific article

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

scientific article

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea

scientific article

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

scientific article published on 2 November 2014

Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2.

scientific article published in November 2004

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

scientific article

Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy.

scientific article published on 14 September 2017

Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients

scientific article published on 02 January 2020

PDE3A mutations cause autosomal dominant hypertension with brachydactyly

scientific article

PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption

scientific article

Periodic catatonia: confirmation of linkage to chromosome 15 and further evidence for genetic heterogeneity

scientific article

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

scientific article

Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation

scientific article published on 28 October 2020

Primary failure of eruption (PFE)--clinical and molecular genetics analysis.

scientific article published in January 2010

Primary failure of eruption (PFE). Clinical and molecular genetics analysis

scientific article published on 3 September 2013

RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.

scientific article

Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4

scientific article published on 16 November 2021

Recessive mutations in PCBD1 cause a new type of early-onset diabetes

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship

scientific article published on May 2009

SMARCAD1 haploinsufficiency underlies Huriez Syndrome and associated skin cancer susceptibility

scientific article published on 31 January 2018

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

scientific article published on 26 November 2005

SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma

scientific article (publication date: 15 October 2007)

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator

scientific article

Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology

scientific article published on 30 October 2017

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

scientific journal article

Splitting Schizophrenia: Periodic Catatonia–Susceptibility Locus on Chromosome 15q15

The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia

scientific article

Variants in a novel epidermal collagen gene (COL29A1) are associated with atopic dermatitis

scientific article

List of works by Franz Rüschendorf

4th Pediatric Allergy and Asthma Meeting (PAAM)

A European study on the genetics of mite sensitization

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

A common haplotype of the IL-31 gene influencing gene expression is associated with nonatopic eczema

A common variant on chromosome 11q13 is associated with atopic dermatitis.

A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitis

A genetic basis for mechanosensory traits in humans

A genome-wide association study reveals 2 new susceptibility loci for atopic dermatitis.

A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults

A novel locus for arterial hypertension on chromosome 1p36 maps to a metabolic syndrome trait cluster in the Sorbs, a Slavic population isolate in Germany.

A systematic approach to mapping recessive disease genes in individuals from outbred populations

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

Age-of-onset information helps identify 76 genetic variants associated with allergic disease

Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss

Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy

Author Correction: Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis

Canadian genome-wide association study and meta-analysis confirm HLA as a risk factor for peanut allergy independent of asthma.

Characterization of Nob3, a major quantitative trait locus for obesity and hyperglycemia on mouse chromosome 1.

Childhood Hypertension in Autosomal-Dominant Hypertension With Brachydactyly

Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

Eleven loci with new reproducible genetic associations with allergic disease risk.

Evaluation of food allergy candidate loci in the Genetics of Food Allergy study

Evidence for linkage of the bladder exstrophy-epispadias complex on chromosome 4q31.21-22 and 19q13.31-41 from a consanguineous Iranian family.

Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.

Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march.

G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth

Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families

Genome scan for childhood and adolescent obesity in German families.

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis

Genome-wide association study identifies the SERPINB gene cluster as a susceptibility locus for food allergy.

Genome-wide linkage analysis of malaria infection intensity and mild disease

Genome-wide linkage analysis reveals evidence for four new susceptibility loci for familial euthyroid goiter

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

Genome-wide linkage scan for bladder exstrophy-epispadias complex

Genomewide Linkage Analysis Identifies Novel Genetic Loci for Lung Function in Mice

Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation

Haplotypes of dopamine and serotonin transporter genes are associated with antisocial personality disorder in alcoholics

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.

ICOS-gene variants are not associated with atopic disease susceptibility in European children

IL13 variants are associated with total serum IgE and early sensitization to food allergens in children with atopic dermatitis

Inflammatory skin and bowel disease linked to ADAM17 deletion

Linkage Evidence for a Two-Locus Inheritance of LQT-Associated Seizures in a Multigenerational LQT Family With a Novel KCNQ1 Loss-of-Function Mutation

Linkage analysis of alcohol dependence using MOD scores

Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36

Meta-analysis identifies seven susceptibility loci involved in the atopic march

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea

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

Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2.

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

Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy.

Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients

PDE3A mutations cause autosomal dominant hypertension with brachydactyly

PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption

Periodic catatonia: confirmation of linkage to chromosome 15 and further evidence for genetic heterogeneity

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

Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation

Primary failure of eruption (PFE)--clinical and molecular genetics analysis.

Primary failure of eruption (PFE). Clinical and molecular genetics analysis

RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.

Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4

Recessive mutations in PCBD1 cause a new type of early-onset diabetes

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship

SMARCAD1 haploinsufficiency underlies Huriez Syndrome and associated skin cancer susceptibility

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator

Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology

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

Splitting Schizophrenia: Periodic Catatonia–Susceptibility Locus on Chromosome 15q15

The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia