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WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases
Amélie Pinard
,
David Salgado
,
Jean-Pierre Desvignes
,
Ghadi Rai
,
Nadine Hanna
,
et al.
Human Mutation, 2016, Next Generation Sequencing and Human Genetic Disease, 37 (12), pp.1308-1317. ⟨10.1002/humu.23119⟩
Article dans une revue
hal-01457375v1
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Brain transcriptomic analysis of honeybees (Apis mellifera) parasitised by Varroa destructor or Nosema cranae
Cynthia Mcdonnell
,
Cédric Alaux
,
Hughes Parrinello
,
Jean-Pierre Desvignes
,
Marion Serot
,
et al.
Eurbee 5th European Conference of Apidology, Sep 2012, Halle, Germany
Communication dans un congrès
hal-02806189v1
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Aubergine iCLIP Reveals piRNA-Dependent Decay of mRNAs Involved in Germ Cell Development in the Early Embryo
B. Barckmann
,
S. Pierson
,
J Dufourt
,
Papin C
,
C. Armenise
,
et al.
Article dans une revue
hal-01186665v1
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Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease
Jeremie Mortreux
,
Juliette Bacquet
,
A. Boyer
,
E. Alazard
,
R. Bellance
,
et al.
Article dans une revue
hal-03147680v1
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VarAFT: a variant annotation and filtration system for human next generation sequencing data
Jean-Pierre Desvignes
,
Marc Bartoli
,
Valérie Delague
,
Martin Krahn
,
Morgane Miltgen
,
et al.
Article dans une revue
hal-01852493v1
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PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia
Rebekah Jobling
,
Mirna Assoum
,
Oleksandr Gakh
,
Susan Blaser
,
Julian A Raiman
,
et al.
Article dans une revue
hal-01680921v1
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Ecto- and endoparasite induce similar chemical and brain neurogenomic responses in the honey bee (Apis mellifera).
Cynthia Mcdonnell
,
Cédric Alaux
,
Hugues Parrinello
,
Jean-Pierre Desvignes
,
Didier Crauser
,
et al.
Article dans une revue
inserm-00848671v1
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The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population
Nadine Jalkh
,
Sandra Corbani
,
Zahraa Haidar
,
Nadine Hamdan
,
Elias Farah
,
et al.
Article dans une revue
hal-02048914v1
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Exome Sequencing Identifies Two Variants of the Alkylglycerol Monooxygenase Gene as a Cause of Relapses in Visceral Leishmaniasis in Children, in Sudan
Sandrine Marquet
,
Bruno Bucheton
,
Camille Reymond
,
Laurent Argiro
,
Sayda Hassan El-Safi
,
et al.
Article dans une revue
hal-01741722v1
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Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia
Morgane Miltgen
,
Arnaud Blanchard
,
Hélène Mathieu
,
Alexandre Kreisler
,
Jean-Pierre Desvignes
,
et al.
Article dans une revue
hal-01670172v1
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Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton
Caroline Lacoste
,
Jean-Pierre Desvignes
,
David Salgado
,
Christophe Pecheux
,
Laurent Villard
,
et al.
Journal of Genetics, 2016, 95 (1), pp.203-208
Article dans une revue
hal-01469051v1
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Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome
Nehla Ghedira
,
Arnaud Lagarde
,
Karim Ben Ameur
,
Sahar Elouej
,
Rania Sakka
,
et al.
Article dans une revue
pasteur-01882965v1
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Loss of Cajal Bodies in Motor Neurons from patients with novel mutations in VRK1
Lara El-Bazzal
,
Khalil Rihan
,
Nathalie Bernard-Marissal
,
Christel Castro
,
Eliane Chouery-Khoury
,
et al.
Article dans une revue
hal-02152040v1
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New advances in DPYD genotype and risk of severe toxicity under capecitabine
Marie-Christine Etienne-Grimaldi
,
Christophe Boyer
,
Christophe Béroud
,
Litaty Mbatchi
,
André van Kuilenburg
,
et al.
Article dans une revue
hal-01780001v1
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EXOME SEQUENCING AS A SECOND-TIER DIAGNOSTIC APPROACH FOR CLINICALLY SUSPECTED DYSFERLINOPATHY PATIENTS
Marc Bartoli
,
Jean-Pierre Desvignes
,
Nicolas Lévy
,
Martin Krahn
Article dans une revue
hal-01610020v1
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UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution
David Salgado
,
Jean-Pierre Desvignes
,
Ghadi Rai
,
Arnaud Blanchard
,
Morgane Miltgen
,
et al.
Article dans une revue
hal-01670164v1
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Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation
Juliette Bacquet
,
Tanya Stojkovic
,
Amandine Boyer
,
Nathalie Martini
,
Frédérique Audic
,
et al.
Article dans une revue
hal-01984168v1
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Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus
Pierre Cacciagli
,
Julie Sutera-Sardo
,
Ana Borges-Correia
,
Jean-Christophe Roux
,
Imen Dorboz
,
et al.
Article dans une revue
hal-01668665v1
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Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)
Sahar Elouej
,
Ana Beleza-Meireles
,
Richard Caswell
,
Kevin Colclough
,
Sian Ellard
,
et al.
Article dans une revue
hal-01680909v1
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In-cell intrabody selection from a diverse human library identifies c12orf4 protein as a new player in rodent mast cell degranulation.
Elsa Mazuc
,
Laurence Guglielmi
,
Nicole Bec
,
Vincent Parez
,
Chang S. Hahn
,
et al.
Article dans une revue
inserm-01067852v1
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Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing
Amandine Sevy
,
Mathieu Cerino
,
Svetlana Gorokhova
,
Eugénie Dionnet
,
Yves Mathieu
,
et al.
Article dans une revue
hal-01469052v1
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Uncoupling of molecular maturation from peripheral target innervation in nociceptors expressing a chimeric TrkA/TrkC receptor
Svetlana Gorokhova
,
Sophie Gaillard
,
L. Urien
,
P. Malapert
,
W. Legha
,
et al.
Article dans une revue
hal-01112482v1
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The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD
Elena Gargaun
,
Sestina Falcone
,
Guilhem Sole
,
Julien Durigneux
,
Andoni Urtizberea
,
et al.
Article dans une revue
hal-03163543v1
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A genetic screen for functional partners of condensin in fission yeast
Xavier Robellet
,
Lydia Fauque
,
Pénélope Legros
,
Esther Mollereau
,
Stéphane Janczarski
,
et al.
Article dans une revue
ensl-00962342v1
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Actionable Genes, Core Databases, and Locus-Specific Databases
Amélie Pinard
,
Morgane Miltgen
,
Arnaud Blanchard
,
Hélène Mathieu
,
Jean-Pierre Desvignes
,
et al.
Article dans une revue
hal-01469071v1
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NEW MISSENSE MUTATIONS IN THE VACCINIA-RELATED KINASE 1 GENE ARE ASSOCIATED WITH AUTOSOMAL RECESSIVE AXONAL CHARCOT-MARIE-TOOTH DISEASE
Lara El-Bazzal
,
Christel Castro
,
Nathalie Roëckel-Trevisiol
,
Jean-Pierre Desvignes
,
André Mégarbané
,
et al.
Journal of the Peripheral Nervous System, 2016, 21 (3), pp.251-252
Article dans une revue
hal-01469080v1
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Piezo1 is required for outflow tract and aortic valve development.
Adèle Faucherre
,
Hamid Moha Ou Maati
,
Nathalie Nasr
,
Amélie Pinard
,
Alexis Theron
,
et al.
Article dans une revue
hal-02863713v1
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Identification of a peripheral blood gene signature predicting aortic valve calcification
Donal Macgrogan
,
Beatriz Martínez-Poveda
,
Jean-Pierre Desvignes
,
Leticia Fernandez-Friera
,
Manuel José Gomez
,
et al.
Article dans une revue
hal-02965646v1
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The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia
Cybel Mehawej
,
Agnès Delahodde
,
Laurence Legeai-Mallet
,
Valérie Delague
,
Nabil Kaci
,
et al.
Article dans une revue
hal-01680942v1
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Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy
Karine Nguyen
,
Stéphane Roche
,
Erwan Donal
,
Sylvie Odent
,
Jean-Christophe Eicher
,
et al.
Article dans une revue
hal-02140150v1
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