List of works - Hans-Hilger Ropers

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

scientific article

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

scientific article

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia

scientific article

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

scientific article

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

scientific article

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

scientific article

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

scientific article published on 24 January 2008

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

scientific article

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

scientific article

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

scientific article

High prevalence of SLC6A8 deficiency in X-linked mental retardation

scientific article

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

scientific article

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.

scientific article

A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation

scientific article

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

scientific article (publication date: December 2003)

X-linked mental retardation: many genes for a complex disorder

scientific article

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

scientific article

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly

scientific article published on 10 April 2008

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

scientific article

Epilepsy and mental retardation limited to females: an under-recognized disorder

scientific article (publication date: 26 February 2008)

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

scientific article published in February 2007

Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly

scientific article

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

scientific article

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability

scientific article

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

scientific article

New perspectives for the elucidation of genetic disorders

scientific article

CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling

scientific article

Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans

scientific journal article

Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation

scientific article published on 18 November 2003

Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome

scientific article

Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome.

scientific article

Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.

scientific article

Nonsyndromic X-linked mental retardation: where are the missing mutations?

scientific article

Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing

scientific article

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

scientific article

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation

scientific article

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

scientific journal article

Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function

scientific article

On the future of genetic risk assessment

scientific article published on April 1, 2012

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

scientific article

Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues

scientific journal article

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

scientific article

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity

scientific article

Redefining the MED13L syndrome

scientific article

X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3

article

Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene

scientific article

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.

scientific article

TRPV1 acts as a synaptic protein and regulates vesicle recycling.

scientific article

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

scientific article published on 08 April 2014

Variants in CUL4B are associated with cerebral malformations

scientific article

List of works by Hans-Hilger Ropers

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

High prevalence of SLC6A8 deficiency in X-linked mental retardation

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.

A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

X-linked mental retardation: many genes for a complex disorder

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

Epilepsy and mental retardation limited to females: an under-recognized disorder

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

New perspectives for the elucidation of genetic disorders

CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling

Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans

Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation

Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome

Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome.

Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.

Nonsyndromic X-linked mental retardation: where are the missing mutations?

Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function

On the future of genetic risk assessment

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity

Redefining the MED13L syndrome

X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3

Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.

TRPV1 acts as a synaptic protein and regulates vesicle recycling.

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

Variants in CUL4B are associated with cerebral malformations