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1

The UMD-APC Database, a Model of Nation-Wide Knowledge Base: Update with Data from 3,581 Variations

Grandval, Philippe, Blayau, Martine, Buisine, Marie-Pierre, Coulet, Florence, Maugard, Christine, Pinson, Stéphane, Remenieras, Audrey, Tinat, Julie, Uhrhammer, Nancy, Béroud, Christophe, Olschwang, S

Journal:

Year:

2014

Language:

english

File:

PDF, 452 KB

english, 2014

2

Assessing TP53 status in human tumours to evaluate clinical outcome

Soussi, Thierry, Béroud, Christophe

Journal:

Nature Reviews Cancer

Year:

2001

Language:

english

File:

PDF, 680 KB

english, 2001

3

UMD (Universal Mutation Database): A generic software to build and analyze locus-specific databases

Christophe Béroud, Gwenaëlle Collod-Béroud, Catherine Boileau, Thierry Soussi, Claudine Junien

Journal:

Year:

2000

Language:

english

File:

PDF, 234 KB

english, 2000

4

Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein

Virginie Wautot, Cécile Vercherat, James Lespinasse, Béatrice Chambe, Gilbert M. Lenoir, Chang X. Zhang, Nicole Porchet, Martine Cordier, Christophe Béroud, Alain Calender

Journal:

Year:

2002

Language:

english

File:

PDF, 352 KB

english, 2002

5

The UMD TP53 database and website: update and revisions

Dalil Hamroun, Shunsuke Kato, Chikashi Ishioka, Mireille Claustres, Christophe Béroud, Thierry Soussi

Journal:

Year:

2006

Language:

english

File:

PDF, 346 KB

english, 2006

6

Utility of patients’ registries to gather clinical, epidemiological and molecular information

Gaëlle Blandin,Christophe Béroud

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 256 KB

english, 2015

7

Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene

Kergourlay, Virginie, Raï, Ghadi, Blandin, Gaëlle, Salgado, David, Béroud, Christophe, Lévy, Nicolas, Krahn, Martin, Bartoli, Marc

Journal:

Year:

2014

Language:

english

File:

PDF, 1.11 MB

english, 2014

8

Pathogenic FBN1 Genetic Variation and Aortic Dissection in Patients With MarfanÂ Syndrome

Milleron, Olivier, Arnoult, Florence, Delorme, Gabriel, Detaint, Delphine, Pellenc, Quentin, Raffoul, Richard, Tchitchinadze, Maria, Langeois, Maud, Guien, Celine, Beroud, Christophe, Ropers, Jacques,

Journal:

Journal of the American College of Cardiology

Year:

2020

Language:

english

File:

PDF, 483 KB

english, 2020

9

The French National Registry of patients with Facioscapulohumeral muscular dystrophy

Guien, Céline, Blandin, Gaëlle, Lahaut, Pauline, Sanson, Benoît, Nehal, Katia, Rabarimeriarijaona, Sitraka, Bernard, Rafaëlle, Lévy, Nicolas, Sacconi, Sabrina, Béroud, Christophe

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 1.07 MB

english, 2018

10

p53 Website and analysis of p53 gene mutations in human cancer: Forging a link between epidemiology and carcinogenesis

Thierry Soussi, Karim Dehouche, Christophe Béroud

Journal:

Year:

2000

Language:

english

File:

PDF, 331 KB

english, 2000

11

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

Mélissa Yana Frédéric, Marine Lalande, Catherine Boileau, Dalil Hamroun, Mireille Claustres, Christophe Béroud, Gwenaëlle Collod-Béroud

Journal:

Year:

2009

Language:

english

File:

PDF, 225 KB

english, 2009

12

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

13

Introducing the online version of the gene table for neuromuscular disease (nuclear genes only)

Dalil Hamroun, Christophe Béroud, Bertrand Fontaine, Jean-Claude Kaplan

Journal:

Neuromuscular Disorders

Year:

2005

Language:

english

File:

PDF, 45 KB

english, 2005

14

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

15

The UMD-p53 database: New mutations and analysis tools

Christophe Béroud, Thierry Soussi

Journal:

Year:

2003

Language:

english

File:

PDF, 123 KB

english, 2003

16

UMD (Universal Mutation Database): 2005 update

Christophe Béroud, Dalil Hamroun, Gwenaëlle Collod-Béroud, Catherine Boileau, Thierry Soussi, Mireille Claustres

Journal:

Year:

2005

Language:

english

File:

PDF, 367 KB

english, 2005

17

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

18

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

19

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

20

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

21

Diagnosis of pheochromocytoma and laparoscopic adrenalectomy in two anephric patients with von hippel-lindau disease

Dominique Chauveau, Céline Burckle, Christophe Béroud, Jean-Michel Correas, Jean-Marc Duclos, Philippe Michel, Stéphane Richard, Jean-Pierre Grünfeld

Journal:

American Journal of Kidney Diseases

Year:

2002

Language:

english

File:

PDF, 793 KB

english, 2002

22

Significance of TP53 mutations in human cancer: A critical analysis of mutations at CpG dinucleotides

Thierry Soussi, Christophe Béroud

Journal:

Year:

2003

Language:

english

File:

PDF, 204 KB

english, 2003

23

Genotype–phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD–DMD database: a model of nationwide knowledgebase

Sylvie Tuffery-Giraud, Christophe Béroud, France Leturcq, Rabah Ben Yaou, Dalil Hamroun, Laurence Michel-Calemard, Marie-Pierre Moizard, Rafaëlle Bernard, Mireille Cossée, Pierre Boisseau, Martine Bla

Journal:

Year:

2009

Language:

english

File:

PDF, 389 KB

english, 2009

24

Enrichment, Immunomorphological, and Genetic Characterization of Fetal Cells Circulating in Maternal Blood

Giovanna Vona, Christophe Béroud, Alexandra Benachi, Alice Quenette, Jean Paul Bonnefont, Serge Romana, Yves Dumez, Bernard Lacour, Patrizia Paterlini-Bréchot

Journal:

The American Journal of Pathology

Year:

2002

Language:

english

File:

PDF, 426 KB

english, 2002

25

Impact of cytomorphological detection of circulating tumor cells in patients with liver cancer

Giovanna Vona, Laurence Estepa, Christophe Béroud, Diane Damotte, Frédérique Capron, Bertrand Nalpas, Alexandra Mineur, Dominique Franco, Bernard Lacour, Stanislas Pol, Christian Bréchot, Patrizia Pat

Journal:

Year:

2004

Language:

english

File:

PDF, 166 KB

english, 2004

26

How to catch all those mutations—the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010

Maija R.J. Kohonen-Corish, Jumana Y. Al-Aama, Arleen D. Auerbach, Myles Axton, Carol Isaacson Barash, Inge Bernstein, Christophe Béroud, John Burn, Fiona Cunningham, Garry R. Cutting, Johan T. den Dun

Journal:

Year:

2010

Language:

english

File:

PDF, 166 KB

english, 2010

27

UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene

Gaelle Blandin, Christophe Beroud, Veronique Labelle, Karine Nguyen, Nicolas Wein, Dalil Hamroun, Brad Williams, Nilah Monnier, Laura E. Rufibach, Jon Andoni Urtizberea, Pierre Cau, Marc Bartoli, Nico

Journal:

Year:

2012

Language:

english

File:

PDF, 150 KB

english, 2012

28

Protein- and mRNA-based phenotype–genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene

Nathalie Deburgrave, Fatma Daoud, Stéphane Llense, Jean Claude Barbot, Dominique Récan, Cécile Peccate, Arthur H.M. Burghes, Christophe Béroud, Luis Garcia, Jean-Claude Kaplan, Jamel Chelly, France Le

Journal:

Year:

2007

Language:

english

File:

PDF, 326 KB

english, 2007

29

Dispelling myths about rare disease registry system development

Bellgard, Matthew, Beroud, Christophe, Parkinson, Kay, Harris, Tess, Ayme, Segolene, Baynam, Gareth, Weeramanthri, Tarun, Dawkins, Hugh, Hunter, Adam

Journal:

Source Code for Biology and Medicine

Year:

2013

Language:

english

File:

PDF, 323 KB

english, 2013

30

Correlations of allelic imbalance of chromosome 14 with adverse prognostic parameters in 148 renal cell carcinomas

Christophe Béroud, Jean-Christophe Fournet, Cécile Jeanpierre, Dominique Droz, Raymonde Bouvier, Delphine Froger, Yves Chretien, Jean-Marie Marechal, Jean Weissenbach, Claudine Junlen

Journal:

Genes, Chromosomes and Cancer

Year:

1996

Language:

english

File:

PDF, 803 KB

english, 1996

31

Trichloroethylene exposure and somatic mutations of theVHLgene in patients with Renal Cell Carcinoma

Barbara Charbotel, Sophie Gad, Delphine Caïola, Christophe Béroud, Joelle Fevotte, Alain Bergeret, Sophie Ferlicot, Stéphane Richard

Journal:

Journal of Occupational Medicine and Toxicology

Year:

2007

Language:

english

File:

PDF, 608 KB

english, 2007

32

Erratum to: Dispelling myths about rare disease registry system development

Bellgard, Matthew, Beroud, Christophe, Parkinson, Kay, Harris, Tess, Ayme, Segolene, Baynam, Gareth, Weeramanthri, Tarun, Dawkins, Hugh, Hunter, Adam

Journal:

Source Code for Biology and Medicine

Year:

2014

Language:

english

File:

PDF, 97 KB

english, 2014

33

Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy

Krahn, Martin, Beroud, Christophe, Xi, Jianying, Blandin, Gaelle, Lu, Jiahong, Luo, Sushan, Zhu, Wenhua, Pecheux, Christophe, Labelle, Veronique, Levy, Nicolas, Urtizberea, JonAndoni, Zhao, Chongbo

Journal:

Neurology India

Year:

2014

Language:

english

File:

PDF, 540 KB

english, 2014

34

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

35

Cover Image, Volume 37, Issue 12

Hegde, Madhuri, Munnich, Arnold, Béroud, Christophe

Journal:

Year:

2016

File:

PDF, 728 KB

2016

36

UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes

David Baux, Valérie Faugère, Lise Larrieu, Sandie Le Guédard-Méreuze, Dalil Hamroun, Christophe Béroud, Sue Malcolm, Mireille Claustres, Anne-Françoise Roux

Journal:

Year:

2008

Language:

english

File:

PDF, 270 KB

english, 2008

37

Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies

Karine Nguyen, Guillaume Bassez, Rafaëlle Bernard, Martin Krahn, Véronique Labelle, Dominique Figarella-Branger, Jean Pouget, El Hadi Hammouda, Christophe Béroud, Andoni Urtizberea, Bruno Eymard, Fran

Journal:

Year:

2005

Language:

english

File:

PDF, 161 KB

english, 2005

38

Locus-specific mutation databases: pitfalls and good practice based on the p53 experience

Soussi, Thierry, Ishioka, Chikashi, Claustres, Mireille, Béroud, Christophe

Journal:

Nature Reviews Cancer

Year:

2006

Language:

english

File:

PDF, 416 KB

english, 2006

39

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

File:

PDF, 971 KB

2015

40

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

41

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

42

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

43

Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy

Christophe Béroud, Sylvie Tuffery-Giraud, Masafumi Matsuo, Dalil Hamroun, Véronique Humbertclaude, Nicole Monnier, Marie-Pierre Moizard, Marie-Antoinette Voelckel, Laurence Michel Calemard, Pierre Boi

Journal:

Year:

2007

Language:

english

File:

PDF, 292 KB

english, 2007

44

Diagnostic approach to the congenital muscular dystrophies

Bönnemann, Carsten G., Wang, Ching H., Quijano-Roy, Susana, Deconinck, Nicolas, Bertini, Enrico, Ferreiro, Ana, Muntoni, Francesco, Sewry, Caroline, Béroud, Christophe, Mathews, Katherine D., Moore, S

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 3.43 MB

english, 2014

45

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

46

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

Melissa Yana Frederic, Dalil Hamroun, Laurence Faivre, Catherine Boileau, Guillaume Jondeau, Mireille Claustres, Christophe Béroud, Gwenaëlle Collod-Béroud

Journal:

Year:

2008

Language:

english

File:

PDF, 476 KB

english, 2008

47

Analysis of the DYSF mutational spectrum in a large cohort of patients

Martin Krahn, Christophe Béroud, Véronique Labelle, Karine Nguyen, Rafaëlle Bernard, Guillaume Bassez, Dominique Figarella-Branger, Carla Fernandez, Julien Bouvenot, Isabelle Richard, Elisabeth Ollagn

Journal:

Year:

2009

Language:

english

File:

PDF, 314 KB

english, 2009

48

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

49

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

50

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

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