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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.
2019
Pré-publication, Document de travail
hal-02404255v1
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IFB/ELIXIR-FR, the french node of ELIXIR
Anne-Françoise Adam-Blondon
,
Jacques van Helden
,
Gildas Le Corguillé
,
Christophe Blanchet
,
Hélène Chiapello
,
et al.
ISMB ECCB 2023, International Society for Computational Biology, Jul 2023, Lyon, France
Communication dans un congrès
hal-04503051v1
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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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Overview of the interactive task in BioCreative V
Qinghua Wang
,
Shabbir S. Abdul
,
Lara Almeida
,
Sophia Ananiadou
,
Yalbi I. Balderas-Martinez
,
et al.
Article dans une revue
hal-01469079v1
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Transgenesis and web resources in quail
Olivier Serralbo
,
David Salgado
,
Nadège Véron
,
Caitlin Cooper
,
Marie-Julie Dejardin
,
et al.
Article dans une revue
hal-03222583v1
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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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Minimum information specification for in situ hybridization and immunohistochemistry experiments (MISFISHIE)
Eric Deutsch
,
Catherine Ball
,
Jules Berman
,
G Steven Bova
,
Alvis Brazma
,
et al.
Article dans une revue
hal-01780056v1
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Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe
Catherine Bladen
,
Rachel Thompson
,
Jacqueline M Jackson
,
Connie Garland
,
Claire Wegel
,
et al.
Article dans une revue
hal-01681799v1
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Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
Zaïda Koeks
,
Catherine L Bladen
,
David Salgado
,
Erik van Zwet
,
Oksana Pogoryelova
,
et al.
Article dans une revue
hal-01681734v1
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Neural crest regulates myogenesis through the transient activation of NOTCH
Anne Rios
,
Olivier Serralbo
,
David Salgado
,
Christophe Marcelle
Article dans une revue
istex
hal-01780066v1
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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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Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene
Virginie Kergourlay
,
Ghadi Rai
,
Gaëlle Blandin
,
David Salgado
,
Christophe Béroud
,
et al.
Article dans une revue
hal-01610021v1
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[OISO, automatic treatment of patients management in oncogenetics].
Celine Guien
,
Aurelie J Fabre
,
Arnaud Lagarde
,
David Salgado
,
Catherine Gensollen-Thiriez
,
et al.
Article dans une revue
hal-01680483v1
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The Protein-Protein Interaction tasks of BioCreative III: classification/ranking of articles and linking bio-ontology concepts to full text
Martin Krallinger
,
Miguel Vazquez
,
Florian Leitner
,
David Salgado
,
Andrew Chatr-Aryamontri
,
et al.
Article dans une revue
hal-01780325v1
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The ANISEED database: digital representation, formalization, and elucidation of a chordate developmental program
O. Tassy
,
D. Dauga
,
F. Daian
,
D. Sobral
,
F. Robin
,
et al.
Article dans une revue
hal-00566811v1
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The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia
Catherine Bladen
,
Karen Rafferty
,
Volker Straub
,
Soledad Monges
,
Angélica Moresco
,
et al.
Article dans une revue
istex
hal-01681801v1
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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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Standardisation of pathogenicity classification for somatic alterations in solid tumours and haematologic malignancies
Florence Koeppel
,
Etienne Muller
,
Alexandre Harlé
,
Celine Guien
,
Pierre Sujobert
,
et al.
Article dans une revue
hal-03408473v1
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A mutation in the Gardos channel is associated with hereditary xerocytosis.
Raphael Rapetti-Mauss
,
Caroline Lacoste
,
Veronique Picard
,
Corinne Guitton
,
Elise Lombard
,
et al.
Blood, 2015, 126 (11), pp.1273-80
Article dans une revue
hal-01252935v1
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COMPARE, a multi-organism system for cross-species data comparison and transfer of information
David Salgado
,
G. Gimenez
,
F. Coulier
,
C. Marcelle
Article dans une revue
hal-00305995v1
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How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era
David Salgado
,
Matthew I. Bellgard
,
Jean-Pierre Desvignes
,
Christophe Béroud
Article dans une revue
hal-01469070v1
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Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders
Svetlana Gorokhova
,
Mathieu Cerino
,
Yves Mathieu
,
Sebastien Courrier
,
Jean-Pierre Desvignes
,
et al.
Article dans une revue
hal-01610017v1
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Hox-dependent coordination of mouse cardiac progenitor cell patterning and differentiation
Sonia Stefanovic
,
Brigitte Laforest
,
Jean-Pierre Desvignes
,
Fabienne Lescroart
,
Laurent Argiro
,
et al.
Article dans une revue
hal-02965640v1
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Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis
Pierre-Antoine Juge
,
Raphaël Borie
,
Caroline Kannengiesser
,
Steven Gazal
,
Patrick Revy
,
et al.
Article dans une revue
hal-01595463v1
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The ANISEED database: digital representation, formalization, and elucidation of a chordate developmental program.
Olivier Tassy
,
Delphine Dauga
,
Fabrice Daian
,
Daniel Sobral
,
François Robin
,
et al.
Article dans une revue
hal-00586199v1
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Minimum information specification for in situ hybridization and immunohistochemistry experiments
E.W. Deutsch
,
C.A. Ball
,
J.J. Berman
,
G.S. Bova
,
A. Brazma
,
et al.
Nature Biotechnology, 2008, 26 (3), pp.305-12
Article dans une revue
hal-00303113v1
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TGFβ signalling acts as a molecular brake of myoblast fusion
Julie Melendez
,
Daniel Sieiro
,
David Salgado
,
Valérie Morin
,
Marie-Julie Dejardin
,
et al.
Article dans une revue
hal-03662775v1
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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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The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations
Catherine Bladen
,
David Salgado
,
Soledad Monges
,
Maria E Foncuberta
,
Kyriaki Kekou
,
et al.
Article dans une revue
hal-01681769v1
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