List of works - Isabelle Schrauwen

A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame.

scientific article

A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome.

scientific article published on June 2015

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome

scientific article published on 15 July 2015

A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family

scientific article published in 2021

A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes

scientific article published on 22 July 2019

A comprehensive catalogue of the coding and non-coding transcripts of the human inner ear.

scientific article published on September 2015

A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss

scientific article published on 08 October 2019

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia

scientific article

A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.

scientific article published on 31 January 2017

A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis

scientific article

A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment

scientific article

A new locus for otosclerosis, OTSC10, maps to chromosome 1q41-44

scientific article published on 7 April 2011

A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9.

scientific article published on 26 January 2008

A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype

scientific article published on 01 July 2018

A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing.

scientific article

A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1.

scientific article published on 10 January 2007

A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment

scientific article published on 03 July 2018

Advances in Molecular Genetics and the Molecular Biology of Deafness.

scientific article published on 20 July 2016

Association of COL1A1 and TGFB1 polymorphisms with otosclerosis in a Tunisian population

scientific article published on 21 July 2011

Association of bone morphogenetic proteins with otosclerosis

scientific article published on April 2008

Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment

scientific article published on 23 June 2020

Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.

scientific article published in June 2011

Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment

scientific article published on 23 October 2020

Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome

scientific article published on 23 September 2013

COL1A1 association and otosclerosis: A meta-analysis

scientific article published on 9 April 2012

Ca2+-binding protein 2 inhibits Ca2+-channel inactivation in mouse inner hair cells

scientific article published on 9 February 2017

Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities

scientific article

Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability

scientific article

Characterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencing

scientific article published in 2014

Clinical and genetic analysis of two Tunisian otosclerosis families

scientific article published on 15 July 2007

Commentary on "Otosclerosis: thirty-year follow-up after surgery".

scientific article published in September 2011

Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves.

scientific article

Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)

scientific article published on 20 November 2019

Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa

scientific article published on 01 September 2018

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1

scientific article published on 30 June 2020

Correction: Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment

scientific article published in 2021

Correlation between laminin-5 immunohistochemistry and human papillomavirus status in squamous cervical carcinoma.

scientific article

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

scientific article published on 7 June 2011

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

scientific article published on 6 May 2016

De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness

scientific article published on 28 June 2018

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

scientific article published on 06 May 2016

Detection of rare nonsynonymous variants in TGFB1 in otosclerosis patients.

scientific article published on 30 January 2009

Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry

scientific article published on 03 May 2019

ESHRD: deconvolution of brain homogenate RNA expression data to identify cell-type-specific alterations in Alzheimer's disease

scientific article published on 02 March 2020

Exome Sequencing of Two Siblings with Sporadic Autism Spectrum Disorder and Severe Speech Sound Disorder Suggests Pleiotropic and Complex Effects

scientific article published on 04 April 2019

Exploring genome-wide DNA methylation patterns in Aicardi syndrome.

scientific article published on 2 October 2017

FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice

scientific article published on 05 November 2018

Family history of Alzheimer's disease alters cognition and is modified by medical and genetic factors

scientific article published on 18 June 2019

Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment

scientific article published on 28 October 2019

Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations

scientific article published on 24 January 2020

Genetic association analysis in a clinically and histologically confirmed otosclerosis population confirms association with the TGFB1 gene but suggests an association of the RELN gene with a clinically indistinguishable otosclerosis-like phenotype

scientific article published in July 2014

Genetic variants in RELN are associated with otosclerosis in a non-European population from Tunisia

scientific article published on 14 July 2010

Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations.

scientific article published on 22 October 2009

Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardation

scientific article

Genome-wide analysis reveals a novel autosomal-recessive hearing loss locus DFNB80 on chromosome 2p16.1-p21.

scientific article published on 13 December 2012

Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment

scientific article

Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria

scientific article published in 2021

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

article

Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma

scientific article published on 14 March 2019

Heterozygosity mapping for human dominant trait variants

scientific article published on 24 April 2019

Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance

scientific article published on 30 November 2018

Identification of novel genetic risk loci in Maltese dogs with necrotizing meningoencephalitis and evidence of a shared genetic risk across toy dog breeds

scientific article

Insufficient evidence for a role of SERPINF1 in otosclerosis

scientific article published on 09 April 2019

Involvement of T-cell receptor-beta alterations in the development of otosclerosis linked to OTSC2.

scientific article published on 25 February 2010

Methods to Improve Molecular Diagnosis in Genomic Cold Cases in Pediatric Neurology

scientific article published on 14 February 2022

Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome

scientific article published on 12 December 2018

Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results

scientific article published in July 2018

No evidence for association between the renin-angiotensin-aldosterone system and otosclerosis in a large Belgian-Dutch population.

scientific article published in December 2009

Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability

article

Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment

scientific article published on 03 September 2018

Phenotype of the first otosclerosis family linked to OTSC10.

scientific article published in April 2011

Rare variants in BMP2 and BMP4 found in otosclerosis patients reduce Smad signaling.

scientific article published on March 2014

Splicing Characteristics of Dystrophin Pseudoexons and Identification of a Novel Pathogenic Intronic Variant in the DMD Gene

scientific article published on 10 October 2020

The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations

scientific article published on 22 June 2007

The etiology of otosclerosis: a combination of genes and environment.

scientific article published on June 2010

Two unrelated children with overlapping 6q25.3 deletions, motor speech disorders, and language delays.

scientific article published on 2 August 2017

Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia

scientific article published on 29 October 2019

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

scientific article published on 05 October 2018

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly

scientific article published on 13 April 2019

Variants of <scp><i>LRP2</i></scp>, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy

scientific article published in 2023

Whole transcriptome profiling of the human hippocampus suggests an involvement of the KIBRA rs17070145 polymorphism in differential activation of the MAPK signaling pathway

scientific article published on 22 April 2017

List of works by Isabelle Schrauwen

A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame.

A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome.

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome

A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family

A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes

A comprehensive catalogue of the coding and non-coding transcripts of the human inner ear.

A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia

A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.

A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis

A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment

A new locus for otosclerosis, OTSC10, maps to chromosome 1q41-44

A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9.

A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype

A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing.

A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1.

A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment

Advances in Molecular Genetics and the Molecular Biology of Deafness.

Association of COL1A1 and TGFB1 polymorphisms with otosclerosis in a Tunisian population

Association of bone morphogenetic proteins with otosclerosis

Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment

Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.

Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment

Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome

COL1A1 association and otosclerosis: A meta-analysis

Ca2+-binding protein 2 inhibits Ca2+-channel inactivation in mouse inner hair cells

Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities

Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability

Characterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencing

Clinical and genetic analysis of two Tunisian otosclerosis families

Commentary on "Otosclerosis: thirty-year follow-up after surgery".

Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves.

Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)

Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1

Correction: Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment

Correlation between laminin-5 immunohistochemistry and human papillomavirus status in squamous cervical carcinoma.

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

Detection of rare nonsynonymous variants in TGFB1 in otosclerosis patients.

Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry

ESHRD: deconvolution of brain homogenate RNA expression data to identify cell-type-specific alterations in Alzheimer's disease

Exome Sequencing of Two Siblings with Sporadic Autism Spectrum Disorder and Severe Speech Sound Disorder Suggests Pleiotropic and Complex Effects

Exploring genome-wide DNA methylation patterns in Aicardi syndrome.

FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice

Family history of Alzheimer's disease alters cognition and is modified by medical and genetic factors

Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment

Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations

Genetic association analysis in a clinically and histologically confirmed otosclerosis population confirms association with the TGFB1 gene but suggests an association of the RELN gene with a clinically indistinguishable otosclerosis-like phenotype

Genetic variants in RELN are associated with otosclerosis in a non-European population from Tunisia

Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations.

Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardation

Genome-wide analysis reveals a novel autosomal-recessive hearing loss locus DFNB80 on chromosome 2p16.1-p21.

Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment

Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma

Heterozygosity mapping for human dominant trait variants

Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance

Identification of novel genetic risk loci in Maltese dogs with necrotizing meningoencephalitis and evidence of a shared genetic risk across toy dog breeds

Insufficient evidence for a role of SERPINF1 in otosclerosis

Involvement of T-cell receptor-beta alterations in the development of otosclerosis linked to OTSC2.

Methods to Improve Molecular Diagnosis in Genomic Cold Cases in Pediatric Neurology

Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome

Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results

No evidence for association between the renin-angiotensin-aldosterone system and otosclerosis in a large Belgian-Dutch population.

Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability

Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment

Phenotype of the first otosclerosis family linked to OTSC10.

Rare variants in BMP2 and BMP4 found in otosclerosis patients reduce Smad signaling.

Splicing Characteristics of Dystrophin Pseudoexons and Identification of a Novel Pathogenic Intronic Variant in the DMD Gene

The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations

The etiology of otosclerosis: a combination of genes and environment.

Two unrelated children with overlapping 6q25.3 deletions, motor speech disorders, and language delays.

Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly