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51

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

Gorokhova, Svetlana, Cerino, Mathieu, Mathieu, Yves, Courrier, Sébastien, Desvignes, Jean-Pierre, Salgado, David, Béroud, Christophe, Krahn, Martin, Bartoli, Marc

Journal:

Applied & Translational Genomics

Year:

2015

Language:

english

File:

PDF, 971 KB

english, 2015

52

Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton

LACOSTE, CAROLINE, DESVIGNES, JEAN-PIERRE, SALGADO, DAVID, PECHEUX, CHRISTOPHE, VILLARD, LAURENT, BARTOLI, MARC, BEROUD, CHRISTOPHE, LEVY, NICOLAS, BADENS, CATHERINE, KRAHN, MARTIN

Journal:

Journal of Genetics

Year:

2016

Language:

english

File:

PDF, 933 KB

english, 2016

53

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

Salgado, David, Desvignes, Jean-Pierre, Rai, Ghadi, Blanchard, Arnaud, Miltgen, Morgane, Pinard, Amélie, Lévy, Nicolas, Collod-Béroud, Gwenaëlle, Béroud, Christophe

Journal:

Year:

2016

Language:

english

File:

PDF, 458 KB

english, 2016

54

Clinical Interpretation of Variants from Next - Generation Sequencing: The 2016 Scientific Meeting of the Human Genome Variation Society

Oetting, William S., Brookes, Anthony J., Béroud, Christophe, Taschner, Peter E.

Journal:

Year:

2016

Language:

english

File:

PDF, 530 KB

english, 2016

55

How to Identify Pathogenic Mutations among all Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era

Salgado, David, Bellgard, Matthew I., Desvignes, Jean-Pierre, Béroud, Christophe

Journal:

Year:

2016

Language:

english

File:

PDF, 907 KB

english, 2016

56

BRCA Share: A Collection of Clinical BRCA Gene Variants

Beroud, Christophe, Letovsky, Stanley I., Braastad, Corey D., Caputo, Sandrine M., Beaudoux, Olivia, Bignon, Yves Jean, De Paillerets, Brigitte Bressac-, Bronner, Myriam, Buell, Crystal M., Collod-Bér

Journal:

Year:

2015

File:

PDF, 1.67 MB

2015

57

High-Throughput Sequencing in the Context of Human Genetic Diseases: Now and Tomorrow

Hegde, Madhuri, Munnich, Arnold, Béroud, Christophe

Journal:

Year:

2016

Language:

english

File:

PDF, 87 KB

english, 2016

58

Cover Image, Volume 37, Issue 12

Hegde, Madhuri, Munnich, Arnold, Béroud, Christophe

Journal:

Year:

2016

File:

PDF, 728 KB

2016

59

Non-Coding Variation: The 2016 Annual Scientific Meeting of the Human Genome Variation Society

Oetting, William S., Béroud, Christophe, Brenner, Steven E., Greenblatt, Marc, Karchin, Rachel, Mooney, Sean D., Sunyaev, Shamir

Journal:

Year:

2017

Language:

english

File:

PDF, 391 KB

english, 2017

60

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

Elouej, Sahar, Beleza-Meireles, Ana, Caswell, Richard, Colclough, Kevin, Ellard, Sian, Desvignes, Jean Pierre, Béroud, Christophe, Lévy, Nicolas, Mohammed, Shehla, Des Sandre-Giovannoli, Annachiara

Journal:

Year:

2017

Language:

english

File:

PDF, 888 KB

english, 2017

61

Exome Sequencing Identifies Two Variants of the Alkylglycerol Monooxygenase Gene as a Cause of Relapses in Visceral Leishmaniasis in Children, in Sudan

Marquet, Sandrine, Bucheton, Bruno, Reymond, Camille, Argiro, Laurent, EL-Safi, Sayda Hassan, Kheir, Musa Mohamed, Desvignes, Jean-Pierre, Béroud, Christophe, Mergani, Adil, Hammad, Awad, Dessein, Ala

Journal:

The Journal of Infectious Diseases

Year:

2017

Language:

english

File:

PDF, 436 KB

english, 2017

62

OISO, traitement informatisé de la prise en charge en oncogénétique clinique

Guien, Céline, Fabre, Aurélie, Lagarde, Arnaud, Salgado, David, Gensollen-Thiriez, Catherine, Zattara, Hélène, Beroud, Christophe, Olschwang, Sylviane

Journal:

Bulletin du Cancer

Year:

2017

File:

PDF, 565 KB

2017

63

Methods and tools for assessing the impact of genetic variations: The 2017 annual scientific meeting of the Human Genome Variation Society

Oetting, William S., Béroud, Christophe, Brenner, Steven E., Greenblatt, Marc S., Karchin, Rachel, Mooney, Sean D.

Journal:

Year:

2017

Language:

english

File:

PDF, 461 KB

english, 2017

64

Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L , clinical analysis and future prospects

Bourgeois, Patrice, Esteve, Clothilde, Chaix, Charlène, Béroud, Christophe, Levy, Nicolas, Fabre, Alexandre, Badens, Catherine

Journal:

Year:

2018

Language:

english

File:

PDF, 1.39 MB

english, 2018

65

Actiflagelin, a new sperm activator isolated from Walterinnesia aegyptia venom using phenotypic screening

Abd El-Aziz, Tarek Mohamed, Al Khoury, Sawsan, Jaquillard, Lucie, Triquigneaux, Mathilde, Martinez, Guillaume, Bourgoin-Voillard, Sandrine, Sève, Michel, Arnoult, Christophe, Beroud, Rémy, De Waard, M

Journal:

Journal of Venomous Animals and Toxins including Tropical Diseases

Year:

2018

Language:

english

File:

PDF, 1.16 MB

english, 2018

66

Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity

Tordjman, Mickael, Dabaj, Ivana, Laforet, Pascal, Felter, Adrien, Ferreiro, Ana, Biyoukar, Moustafa, Law-Ye, Bruno, Zanoteli, Edmar, Castiglioni, Claudia, Rendu, John, Beroud, Christophe, Chamouni, Al

Journal:

European Radiology

Year:

2018

Language:

english

File:

PDF, 2.25 MB

english, 2018

67

VarAFT: a variant annotation and filtration system for human next generation sequencing data

Desvignes, Jean-Pierre, Bartoli, Marc, Delague, Valérie, Krahn, Martin, Miltgen, Morgane, Béroud, Christophe, Salgado, David

Journal:

Nucleic Acids Research

Year:

2018

Language:

english

File:

PDF, 2.89 MB

english, 2018

68

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

Etienne-Grimaldi, Marie-Christine, Boyer, Jean-Christophe, Beroud, Christophe, Mbatchi, Litaty, van Kuilenburg, André, Bobin-Dubigeon, Christine, Thomas, Fabienne, Chatelut, Etienne, Merlin, Jean-Loui

Journal:

Year:

2017

Language:

english

File:

PDF, 1.94 MB

english, 2017

69

Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men

Auguste, Yasmina, Delague, Valérie, Desvignes, Jean-Pierre, Longepied, Guy, Gnisci, Audrey, Besnier, Pierre, Levy, Nicolas, Beroud, Christophe, Megarbane, André, Metzler-Guillemain, Catherine, Mitchel

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.78 MB

english, 2018

70

Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases

Nelson, Isabelle, Stojkovic, Tanya, Allamand, Valérie, Leturcq, France, Bécane, Henri-Marc, Babuty, Dominique, Toutain, Annick, Béroud, Christophe, Richard, Pascale, Romero, Norma B., Eymard, Bruno, B

Journal:

Journal of Neuromuscular Diseases

Year:

2015

Language:

english

File:

PDF, 570 KB

english, 2015

71

Single-cell genetic analysis validates cytopathological identification of circulating cancer cells in patients with clear cell renal cell carcinoma

Broncy, Lucile, Njima, Basma Ben, Méjean, Arnaud, Béroud, Christophe, Romdhane, Khaled Ben, Ilie, Marius, Hofman, Veronique, Muret, Jane, Hofman, Paul, Bouhamed, Habiba Chaabouni, Paterlini-Bréchot, P

Journal:

Year:

2018

Language:

english

File:

PDF, 2.80 MB

english, 2018

72

Author Correction: Leveraging European infrastructures to access 1 million human genomes by 2022

Saunders, Gary, Baudis, Michael, Becker, Regina, Beltran, Sergi, Béroud, Christophe, Birney, Ewan, Brooksbank, Cath, Brunak, Søren, Van den Bulcke, Marc, Drysdale, Rachel, Capella-Gutierrez, Salvador,

Journal:

Nature Reviews Genetics

Year:

2019

Language:

english

File:

PDF, 158 KB

english, 2019

73

X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation

BarthÃ©lÃ©my, InÃ¨s, Calmels, NadÃ¨ge, Weiss, Robert B., Tiret, Laurent, Vulin, Adeline, Wein, Nicolas, Peccate, CÃ©cile, Drougard, Carole, Beroud, Christophe, Deburgrave, Nathalie, Thibaud, Jean-Laur

Journal:

Skeletal Muscle

Year:

2020

File:

PDF, 3.61 MB

2020