The UMD website


 

If you refer to UMD in any publication, please cite: Béroud C, Collod-Béroud G, Boileau C, Soussi T, Junien C. UMD (Universal mutation database): a generic software to build and analyze locus-specific databases. Hum Mutat 2000; 15: 86-94.


UMD-APC
  1. Béroud C, Soussi T. APC gene: database of germline and somatic mutations in human tumors and cell lines. Nucleic Acids Res 1996; 24: 121-4.
  2. Béroud C, Soussi T. p53 and APC gene mutations: software and databases. Nucleic Acids Res 1997; 25: 138.
  3. Laurent-Puig P, Béroud C, Soussi T. APC gene: database of germline and somatic mutations in human tumors and cell lines. Nucleic Acids Res 1998; 26: 269-70.
  4. Grandval P, Blayau M, Buisine MP, Coulet F, Maugard C, Pinson S, Remenieras A, Tinat J, Uhrhammer N, Béroud C, Olschwang S. The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations. Hum Mutat 2014; 35(5): 532-6.

UMD-BRCA1
UMD-BRCA2
  1. Caputo S, Benboudjema L, Sinilnikova O, Rouleau E, Béroud C, Lidereau R; French BRCA GGC Consortium. Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases. Nucleic Acids Res. 2012; 40(Database issue):D992-1002.

UMD-CFTR
  1. Bareil C, Thèze C, Béroud C, Hamroun D, Guittard C, René C, Paulet D, Georges Md, Claustres M. UMD-CFTR: a database dedicated to CF and CFTR-related disorders. Hum Mutat. 2010; 31(9):1011-9.

UMD-DMD
  1. Tuffery-Giraud S, Béroud C, Leturcq F, Yaou RB, Hamroun D, Michel-Calemard L, Moizard MP, Bernard R, Cossée M, Boisseau P, Blayau M, Creveaux I, Guiochon-Mantel A, de Martinville B, Philippe C, Monnier N, Bieth E, Khau Van Kien P, Desmet FO, Humbertclaude V, Kaplan JC, Chelly J, Claustres M. Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. Hum Mutat. 2009; 30(6):934-45.

UMD-DYSF
  1. Blandin G, Béroud C, Labelle V, Nguyen K, Wein N, Hamroun D, Williams B, Monnier N, Rufibach LE, Urtizberea JA, Cau P, Bartoli M, Lévy N, Krahn M. UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene. Hum Mutat. 2012; 33(3):E2317-31.

UMD-FBN1
  1. Collod G, Béroud C, Soussi T, Junien C, Boileau C. Software and database for the analysis of mutations in the human FBN1 gene. Nucleic Acids Res 1996; 24: 137-40.
  2. Collod-Béroud G, Béroud C, Ades L, Black C, Boxer M, Brock D J, Godfrey M, Hayward C, Karttunen L, Milewicz D, Peltonen L, Richards R I, Wang M, Junien C, Boileau C. Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene. Nucleic Acids Res 1997; 25: 147-50.
  3. Collod-Béroud G, Béroud C, Ades L, Black C, Boxer M, Brock D J, Holman K J, de Paepe A, Francke U, Grau U, Hayward C, Klein H G, Liu W, Nuytinck L, Peltonen L, Alvarez Perez A B, Rantamaki T, Junien C, Boileau C. Marfan Database (third edition): new mutations and new routines for the software. Nucleic Acids Res 1998; 26: 229-3.
  4. Collod-Béroud G, Le Bourdelles S, Ades L, Ala-Kokko L, Booms P, Boxer M, Child A, Comeglio P, De Paepe A, Hyland JC, Holman K, Kaitila I, Loeys B, Matyas G, Nuytinck L, Peltonen L, Rantamaki T, Robinson P, Steinmann B, Junien C, Béroud C, Boileau C. Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat. 2003; 22(3):199-208.

UMD-FBN2
  1. Frédéric MY, Monino C, Marschall C, Hamroun D, Faivre L, Jondeau G, Klein HG, Neumann L, Gautier E, Binquet C, Maslen C, Godfrey M, Gupta P, Milewicz D, Boileau C, Claustres M, Béroud C, Collod-Béroud G. The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations. Hum Mutat. 2009; 30(2):181-90.

UMD-LDLR
  1. Varret M, Rabes J P, Collod-Béroud G, Junien C, Boileau C, Béroud C. Software and database for the analysis of mutations in the human LDL receptor gene. Nucleic Acids Res 1997; 25: 172-80.
  2. Varret M, Rabes J P, Thiart R, Kotze M J, Baron H, Cenarro A, Descamps O, Ebhardt M, Hondelijn J C, Kostner G M, Miyake Y, Pocovi M, Schmidt H, Schuster H, Stuhrmann M, Yamamura T, Junien C, Béroud C, Boileau C. LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis. Nucleic Acids Res 1998; 26: 248-52.
  3. Villeger L, Abifadel M, Allard D, Rabes J P, Thiart R, Kotze M J, Béroud C, Junien C, Boileau C, Varret M. The UMD-LDLR database: additions to the software and 490 new entries to the database. Hum Mutat 2002; 20: 81-7.

UMD-MEN1
  1. Wautot V, Vercherat C, Lespinasse J, Chambe B, Lenoir G M, Zhang C X, Porchet N, Cordier M, Béroud C, Calender A. Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein. Hum Mutat 2002; 20: 35-47.

UMD-MMR
  1. Grandval P, Fabre AJ, Gaildrat P, Baert-Desurmont S, Buisine MP, Ferrari A, Wang Q, Béroud C, Olschwang S. UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families. Database 2013; 31.
  2. Grandval P, Fabre AJ, Olschwang S. Design of a core classification process for DNA mismatch repair variations of a priori unknown functional significance.. Hum Mutat 2013; 34(6): 920-2.

UMD-p53
  1. Béroud C, Verdier F, Soussi T. p53 gene mutation: software and database. Nucleic Acids Res 1996; 24: 147-50.
  2. Béroud C, Soussi T. p53 and APC gene mutations: software and databases. Nucleic Acids Res 1997; 25: 138.
  3. Béroud C, Soussi T. p53 gene mutation: software and database. Nucleic Acids Res 1998; 26: 200-4.
  4. Soussi T, Dehouche K, Béroud C. p53 website and analysis of p53 gene mutations in human cancer: forging a link between epidemiology and carcinogenesis. Hum Mutat 2000; 15: 105-13.
  5. Soussi T, Béroud C. Assessing TP53 status in human tumours to evaluate clinical outcome. Nat Rev Cancer 2001; 1: 233-40.
  6. Béroud C, Soussi T. The UMD-p53 database: New mutations and analysis tools. Hum Mutat 2003; 21: 176-81.
  7. Soussi T, Béroud C. Significance of TP53 mutations in human cancer: A critical analysis of mutations at CpG dinucleotides. Hum Mutat 2003; 21: 192-200.
  8. Hamroun D, Kato S, Ishioka C, Claustres M, Béroud C, Soussi T. The UMD TP53 database and website: update and revisions. Hum Mutat. 2006; 27(1):14-20.

UMD-THAP1
  1. Blanchard A, Ea V, Roubertie A, Martin M, Coquart C, Claustres M, Béroud C, Collod-Béroud G. DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene. Hum Mutat. 2011; 32(11):1213-24.

UMD-TGFBR2
  1. Frederic MY, Hamroun D, Faivre L, Boileau C, Jondeau G, Claustres M, Béroud C, Collod-Béroud G. A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2. Hum Mutat. 2008; 29(1):33-8.

UMD-USHbases
  1. Baux D, Faugère V, Larrieu L, Le Guédard-Méreuze S, Hamroun D, Béroud C, Malcolm S, Claustres M, Roux AF. UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes. Hum Mutat. 2008; 29(8):E76-87.

UMD-VHL
  1. Béroud C, Joly D, Gallou C, Staroz F, Orfanelli M T, Junien C. Software and database for the analysis of mutations in the VHL gene. Nucleic Acids Res 1998; 26: 256-8.

UMD-WT1
  1. Jeanpierre C, Béroud C, Niaudet P, Junien C. Software and database for the analysis of mutations in the human WT1 gene. Nucleic Acids Res 1998; 26: 271-4.

UMD-tools
  1. Béroud C, Tuffery-Giraud S, Matsuo M, Hamroun D, Humbertclaude V, Monnier N, Moizard MP, Voelckel MA, Calemard LM, Boisseau P, Blayau M, Philippe C, Cossée M, Pagès M, Rivier F, Danos O, Garcia L, Claustres M. 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. Hum Mutat. 2007; 28(2):196-202.
  2. Frédéric MY, Lalande M, Boileau C, Hamroun D, Claustres M, Béroud C, Collod-Béroud G. UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2. Hum Mutat. 2009; 30(6):952-9.
  3. Soussi T, Hamroun D, Hjortsberg L, Rubio-Nevado JM, Fournier JL, Béroud C. MUT-TP53 2.0: a novel versatile matrix for statistical analysis of TP53 mutations in human cancer. Hum Mutat. 2010; 31(9):1020-5.