List of works - Sandrine Marlin

A case of mild CHARGE syndrome associated with a splice site mutation in CHD7.

scientific article published on 24 February 2016

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

scientific article

A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss

scientific article

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

scientific article published on 21 September 2016

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

scientific article published on 27 July 2016

Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene

scientific article published in April 2004

Cochlear implant and inner ear malformation. Proposal for an hyperosmolar therapy at surgery.

scientific article

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

scientific article

Congenital cytomegalovirus is the second most frequent cause of bilateral hearing loss in young French children

scientific article published on 26 September 2012

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4

scientific article published on 22 October 2007

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

scientific article

Discovery of a large deletion of KAL1 in 2 deaf brothers

scientific article published in December 2013

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

scientific article

EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state

scientific journal article

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

scientific article published on December 2012

Evaluation of cytomegalovirus (CMV) DNA quantification in dried blood spots: retrospective study of CMV congenital infection

scientific article

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases

scientific article

Facial, lingual, and pharyngeal electromyography in infants with Pierre Robin sequence ⬇️

scientific article published on 07 April 2011

Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS

scientific article published on 01 August 2020

Functional consequences of a germline mutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorder

scientific article

GJB2 mutations and degree of hearing loss: a multicenter study

scientific article

Genetic hearing loss

scientific article published on 28 October 2017

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

scientific article

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

scientific article published on 12 January 2013

Lactate and anion gap in asphyxiated neonates ⬇️

scientific article published on January 1, 1998

Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness

scientific article published on May 2013

Molecular diagnosis of genetic deafness ⬇️

scientific article published on 01 May 2011

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

scientific article

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

scientific article

Mycophenolate mofetil as a treatment of steroid dependent Cogan's syndrome in childhood

scientific article published on 4 August 2009

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

scientific article

Noonan Syndrome: An Underestimated Cause of Severe to Profound Sensorineural Hearing Impairment. Which Clues to Suspect the Diagnosis?

scientific article published on 24 July 2017

Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss

scientific article published on 14 February 2012

Pediatric cochlear implantation in residual hearing candidates.

scientific article published on 13 January 2015

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

scientific article

Prenatal diagnosis of cleft lip with or without cleft palate: retrospective study and review ⬇️

scientific article published on September 25, 2012

Prenatal evaluation of the middle ear and diagnosis of middle ear hypoplasia using MRI ⬇️

scientific article published on 08 December 2010

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study

scientific article

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

scientific article published on 11 July 2013

Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: A very mild phenotype ⬇️

scientific article published on August 23, 2011

Review and update of mutations causing Waardenburg syndrome.

scientific article published on April 2010

Role of interleukin-1β in NLRP12-associated autoinflammatory disorders and resistance to anti-interleukin-1 therapy ⬇️

scientific article published on 01 July 2011

Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2.

scientific article

Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct

scientific article

Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!

scientific article published on 16 March 2010

The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells

scientific article

The calcineurin inhibitor tacrolimus as a new therapy in severe cherubism.

scientific article published on May 2015

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

scientific article published on 2 December 2015

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

scientific article published on 19 March 2015

Unilateral Sensorineural Hearing Loss: Medical Context and Etiology

scientific article

Usher syndrome type 1: early detection of electroretinographic changes

scientific article

List of works by Sandrine Marlin

A case of mild CHARGE syndrome associated with a splice site mutation in CHD7.

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene

Cochlear implant and inner ear malformation. Proposal for an hyperosmolar therapy at surgery.

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

Congenital cytomegalovirus is the second most frequent cause of bilateral hearing loss in young French children

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

Discovery of a large deletion of KAL1 in 2 deaf brothers

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

Evaluation of cytomegalovirus (CMV) DNA quantification in dried blood spots: retrospective study of CMV congenital infection

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases

Facial, lingual, and pharyngeal electromyography in infants with Pierre Robin sequence ⬇️

Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS

Functional consequences of a germline mutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorder

GJB2 mutations and degree of hearing loss: a multicenter study

Genetic hearing loss

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

Lactate and anion gap in asphyxiated neonates ⬇️

Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness

Molecular diagnosis of genetic deafness ⬇️

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Mycophenolate mofetil as a treatment of steroid dependent Cogan's syndrome in childhood

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

Noonan Syndrome: An Underestimated Cause of Severe to Profound Sensorineural Hearing Impairment. Which Clues to Suspect the Diagnosis?

Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss

Pediatric cochlear implantation in residual hearing candidates.

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

Prenatal diagnosis of cleft lip with or without cleft palate: retrospective study and review ⬇️

Prenatal evaluation of the middle ear and diagnosis of middle ear hypoplasia using MRI ⬇️

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: A very mild phenotype ⬇️

Review and update of mutations causing Waardenburg syndrome.

Role of interleukin-1β in NLRP12-associated autoinflammatory disorders and resistance to anti-interleukin-1 therapy ⬇️

Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2.

Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct

Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!

The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells

The calcineurin inhibitor tacrolimus as a new therapy in severe cherubism.

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

Unilateral Sensorineural Hearing Loss: Medical Context and Etiology

Usher syndrome type 1: early detection of electroretinographic changes