List of works - Franz Rüschendorf

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

scientific article

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

scientific article

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

scientific article

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

scientific article published in October 2006

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

scientific article published on 6 April 2009

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

scientific article published in September 2006

Inflammatory skin and bowel disease linked to ADAM17 deletion

scientific article published in October 2011

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

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

scientific 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

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 30 October 2017

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

scientific article published on 2 November 2014

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

scientific article

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

scientific article

RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.

scientific article

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

scientific article

PDE3A mutations cause autosomal dominant hypertension with brachydactyly

scientific article

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

scientific article

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

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

scientific article

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

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

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

scientific article

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea

scientific article

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

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

Genome scan for childhood and adolescent obesity in German families

scientific article published in February 2003

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

scientific article published on March 2007

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

scientific article

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

scientific article published on 29 June 2007

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

scientific article

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)

A genetic basis for mechanosensory traits in humans

scientific article

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

scientific article published on 27 September 2007

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

scientific article

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

article

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

scientific article published on May 2009

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

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

scientific article

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

article

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

scientific article published on 26 May 2009

A European study on the genetics of mite sensitization

article

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

scientific article

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

Linkage analysis of alcohol dependence using MOD scores

scientific article published on 30 December 2005

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

List of works by Franz Rüschendorf

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

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

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

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

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

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

Inflammatory skin and bowel disease linked to ADAM17 deletion

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

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

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

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

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

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

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

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

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

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

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

RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.

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

PDE3A mutations cause autosomal dominant hypertension with brachydactyly

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

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

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

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

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

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

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea

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

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

Genome scan for childhood and adolescent obesity in German families

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

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

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

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

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

A genetic basis for mechanosensory traits in humans

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

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

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

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

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

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

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

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

A European study on the genetics of mite sensitization

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

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

Linkage analysis of alcohol dependence using MOD scores

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