List of works - Margit Schraders

A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family

scientific article published on 9 October 2014

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

scientific article published on 15 December 2016

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

scientific journal article

Audioprofile-Directed Successful Mutation Analysis in a DFNA2/KCNQ4 (p.Leu274His) Family ⬇️

scientific article published on April 1, 2011

Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment

scientific article published on 12 January 2017

De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.

scientific article published on 8 December 2018

Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

scientific article

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations

scientific article published on 23 July 2011

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human. ⬇️

scientific article

Grxcr2 is required for stereocilia morphogenesis in the cochlea

scientific article published in PLoS ONE

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.

scientific article published on 12 May 2018

High-resolution genomic profiling of pediatric lymphoblastic lymphomas reveals subtle differences with pediatric acute lymphoblastic leukemias in the B-lineage

scientific article

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment

scientific article

Hypermutation in Mantle Cell Lymphoma Does Not Indicate a Clinical or Biological Sub Entity. ⬇️

scholarly article

Hypermutation in mantle cell lymphoma does not indicate a clinical or biological subentity

scientific article published on 9 January 2009

Increased vascularization predicts favorable outcome in follicular lymphoma

scientific article published on 01 January 2005

Integrated CGH- and Epression Array Profiling of Mantle Cell Lymphoma. ⬇️

scholarly article

Integrated genomic and expression profiling in mantle cell lymphoma: identification of gene-dosage regulated candidate genes.

scientific article

Lack of Bcl-2 expression in follicular lymphoma may be caused by mutations in the BCL2 gene or by absence of the t(14;18) translocation

scientific article published on 01 February 2005

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

scientific article published on 28 June 2018

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

scientific article

Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.

scientific article

Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction

scientific article

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

scientific article

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment

scientific article

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

scientific article

Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum

scientific article

Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

scientific article

Novel chromosomal imbalances in mantle cell lymphoma detected by genome-wide array-based comparative genomic hybridization

scientific article published on 21 October 2004

Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.

scientific article

Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in <i>TMC1</i> ⬇️

scientific article published on June 26, 2010

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5

scientific article

Promoter methylation of PARG1, a novel candidate tumor suppressor gene in mantle-cell lymphomas

scientific article published on April 2007

Quantitative microsatellite analysis to delineate the commonly deleted region 1p22.3 in mantle cell lymphomas.

scientific article

SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma

scientific article

Similar phenotypes caused by mutations in OTOG and OTOGL.

scientific article

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

scientific article published on 21 December 2016

List of works by Margit Schraders

A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

Audioprofile-Directed Successful Mutation Analysis in a DFNA2/KCNQ4 (p.Leu274His) Family ⬇️

Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment

De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.

Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human. ⬇️

Grxcr2 is required for stereocilia morphogenesis in the cochlea

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.

High-resolution genomic profiling of pediatric lymphoblastic lymphomas reveals subtle differences with pediatric acute lymphoblastic leukemias in the B-lineage

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment

Hypermutation in Mantle Cell Lymphoma Does Not Indicate a Clinical or Biological Sub Entity. ⬇️

Hypermutation in mantle cell lymphoma does not indicate a clinical or biological subentity

Increased vascularization predicts favorable outcome in follicular lymphoma

Integrated CGH- and Epression Array Profiling of Mantle Cell Lymphoma. ⬇️

Integrated genomic and expression profiling in mantle cell lymphoma: identification of gene-dosage regulated candidate genes.

Lack of Bcl-2 expression in follicular lymphoma may be caused by mutations in the BCL2 gene or by absence of the t(14;18) translocation

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.

Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction

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

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment

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

Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum

Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

Novel chromosomal imbalances in mantle cell lymphoma detected by genome-wide array-based comparative genomic hybridization

Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.

Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in &lt;i&gt;TMC1&lt;/i&gt; ⬇️

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5

Promoter methylation of PARG1, a novel candidate tumor suppressor gene in mantle-cell lymphomas

Quantitative microsatellite analysis to delineate the commonly deleted region 1p22.3 in mantle cell lymphomas.

SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma

Similar phenotypes caused by mutations in OTOG and OTOGL.

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in <i>TMC1</i> ⬇️