List of works - Jean-Pierre Desvignes

A genetic screen for functional partners of condensin in fission yeast.

scientific article published on 19 February 2014

A mutation in the Gardos channel is associated with hereditary xerocytosis

scientific article

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).

scientific article published on 12 June 2013

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

scientific article

Aubergine iCLIP Reveals piRNA-Dependent Decay of mRNAs Involved in Germ Cell Development in the Early Embryo

scientific article

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders.

scientific article published on 4 September 2015

Ecto- and endoparasite induce similar chemical and brain neurogenomic responses in the honey bee (Apis mellifera).

scientific article

Essential requirement for β-arrestin2 in mouse intestinal tumors with elevated Wnt signaling ⬇️

scientific article published on February 6, 2012

Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients

scientific article published on 30 October 2014

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

scientific article

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing: Table 1

scientific article published on 17 March 2015

In-cell intrabody selection from a diverse human library identifies C12orf4 protein as a new player in rodent mast cell degranulation

scientific journal article

Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus

scientific article published on September 2013

New advances in DPYD genotype and risk of severe toxicity under capecitabine.

scientific article

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

scientific article

Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis.

scientific article

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia

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

Uncoupling of molecular maturation from peripheral target innervation in nociceptors expressing a chimeric TrkA/TrkC receptor

scientific article (publication date: February 2014)

List of works by Jean-Pierre Desvignes

A genetic screen for functional partners of condensin in fission yeast.

A mutation in the Gardos channel is associated with hereditary xerocytosis

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).

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

Aubergine iCLIP Reveals piRNA-Dependent Decay of mRNAs Involved in Germ Cell Development in the Early Embryo

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders.

Ecto- and endoparasite induce similar chemical and brain neurogenomic responses in the honey bee (Apis mellifera).

Essential requirement for β-arrestin2 in mouse intestinal tumors with elevated Wnt signaling ⬇️

Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing: Table 1

In-cell intrabody selection from a diverse human library identifies C12orf4 protein as a new player in rodent mast cell degranulation

Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus

New advances in DPYD genotype and risk of severe toxicity under capecitabine.

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis.

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia

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

Uncoupling of molecular maturation from peripheral target innervation in nociceptors expressing a chimeric TrkA/TrkC receptor