List of works - Gwenaëlle Collod-Béroud

A new locus-specific database (LSDB) for mutations in theTGFBR2gene: UMD-TGFBR2

article

Actionable Genes, Core Databases, and Locus-Specific Databases.

scientific article

BRCA Share: A Collection of Clinical BRCA Gene Variants

scientific article

Cardiovascular manifestations in men and women carrying a FBN1 mutation

scientific article published on 13 August 2010

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

scientific article

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation

scientific article

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

scientific article published on 28 October 2015

Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]

scientific article published on 7 April 2010

Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.

scientific article

DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene

scientific article published on 15 September 2011

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

scientific article

First determination of the incidence of the uniqueTOR1A gene mutation, c.907delGAG, in a Mediterranean population

article

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.

scientific article published on 31 August 2016

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

scientific article

Identification of 23TGFBR2and 6TGFBR1gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders

article

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

scientific article

Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?

article

Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: an open-label study

scientific article published in February 2010

Marfan Database (third edition): new mutations and new routines for the software

scientific article

Marfan syndrome in the third Millennium

scientific article

Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains

scientific article published in January 2010

Molecular Genetics of the Fibrillinopathies

article

Monogenetic dystonia: revisiting the dopaminergic hypothesis

scientific article published in April 2010

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

scientific article

New Topoisomerase I mutations are associated with resistance to camptothecin

scientific article published on 27 May 2011

Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia

scientific article

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

scientific article published on 01 May 2009

Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year

scientific article published in March 2011

Singular DYT6 phenotypes in association with new THAP1 frameshift mutations

scientific article published on 25 April 2011

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.

scientific article published on 18 March 2013

The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations

scientific article

The molecular genetics of Marfan syndrome and related disorders

scientific article

The new Ghent criteria for Marfan syndrome: what do they change?

scientific article

The revised ghent nosology; reclassifying isolated ectopia lentis.

scientific article published on 06 March 2014

UMD (Universal Mutation Database): 2005 update

scientific article

UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

scientific article published on 04 February 2016

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.

scientific article published in June 2009

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database

scientific article

WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases

scientific article published on 20 September 2016

Writing tremor: Should we look for a TOR1A mutation?

scientific article published on 2 October 2017

List of works by Gwenaëlle Collod-Béroud

A new locus-specific database (LSDB) for mutations in theTGFBR2gene: UMD-TGFBR2

Actionable Genes, Core Databases, and Locus-Specific Databases.

BRCA Share: A Collection of Clinical BRCA Gene Variants

Cardiovascular manifestations in men and women carrying a FBN1 mutation

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]

Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.

DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

First determination of the incidence of the uniqueTOR1A gene mutation, c.907delGAG, in a Mediterranean population

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

Identification of 23TGFBR2and 6TGFBR1gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?

Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: an open-label study

Marfan Database (third edition): new mutations and new routines for the software

Marfan syndrome in the third Millennium

Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains

Molecular Genetics of the Fibrillinopathies

Monogenetic dystonia: revisiting the dopaminergic hypothesis

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

New Topoisomerase I mutations are associated with resistance to camptothecin

Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year

Singular DYT6 phenotypes in association with new THAP1 frameshift mutations

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.

The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations

The molecular genetics of Marfan syndrome and related disorders

The new Ghent criteria for Marfan syndrome: what do they change?

The revised ghent nosology; reclassifying isolated ectopia lentis.

UMD (Universal Mutation Database): 2005 update

UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database

WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases

Writing tremor: Should we look for a TOR1A mutation?