List of works - Vera M. Kalscheuer

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

scientific article

Germline KRAS mutations cause Noonan syndrome

scientific article

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

scientific article published on 3 October 2010

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

scientific article

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

scientific article (publication date: 15 April 2002)

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

scientific article

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

scientific article

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

scientific journal article

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

scientific article

CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.

scientific article published on 26 August 2012

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

scientific article

The insulin–like growth factor type–2 receptor gene is imprinted in the mouse but not in humans

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

Biallelic expression of the H19 and IGF2 genes in human testicular germ cell tumors

scientific article published on July 1994

Mapping translocation breakpoints by next-generation sequencing

scientific article published on 7 March 2008

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

scientific article (publication date: December 2003)

Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huet anomaly

article

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

scientific article

Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion

scientific article

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

scientific article published on 10 April 2008

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology

scientific article

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

scientific journal article

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

scientific article

Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1

scientific journal article

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

scientific article published in February 2007

Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy

scientific article published on 16 May 2013

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

scientific article

Genomic organization and expression of the doublesex-related gene cluster in vertebrates and detection of putative regulatory regions for DMRT1.

scientific article published in September 2001

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

The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted

scientific article (publication date: February 2003)

Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

scientific article published in February 2003

Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment

scientific article

Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients

scientific article published in October 2008

Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses

scientific article (publication date: June 1997)

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

scientific article

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis

scientific article

Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS.

scientific article

Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.

scientific article published on 8 May 2014

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

Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation

scientific article

Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation

scientific article published in January 2006

Modeling read counts for CNV detection in exome sequencing data

scientific article

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin

scientific article

In-frame deletion inMECP2 causes mild nonspecific mental retardation

scientific article published on 01 January 2002

List of works by Vera M. Kalscheuer

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Germline KRAS mutations cause Noonan syndrome

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

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

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

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

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

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

CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.

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

The insulin–like growth factor type–2 receptor gene is imprinted in the mouse but not in humans

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

Biallelic expression of the H19 and IGF2 genes in human testicular germ cell tumors

Mapping translocation breakpoints by next-generation sequencing

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

Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huet anomaly

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

Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion

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

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1

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

Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy

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

Genomic organization and expression of the doublesex-related gene cluster in vertebrates and detection of putative regulatory regions for DMRT1.

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

The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted

Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment

Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients

Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses

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

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis

Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS.

Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.

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

Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation

Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation

Modeling read counts for CNV detection in exome sequencing data

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin

In-frame deletion inMECP2 causes mild nonspecific mental retardation