The UMD central database
List of publications related to UMD databases

If you refer to UMD or UMD-Predictor in any publication, please cite:
  1. Frederic MY and Lalande M, Boileau C, Hamroun D, Claustres M, Beroud C and Collod-Beroud 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): 952-959
  2. Beroud C, Hamroun D, Collod-Beroud G, Boileau C, Soussi T, Claustres M. UMD (Universal mutation database): 2005 update. Hum Mutat 2005; 26: 184-191
  3. Beroud C, Collod-Beroud 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. Laurent-Puig P, Beroud C, Soussi T. APC gene: database of germline and somatic mutations in human tumors and cell lines. Nucleic Acids Res 1998; 26: 269-70.
  2. Beroud C, Soussi T. p53 and APC gene mutations: software and databases. Nucleic Acids Res 1997; 25: 138.
  3. Beroud C, Soussi T. APC gene: database of germline and somatic mutations in human tumors and cell lines. Nucleic Acids Res 1996; 24: 121-4.

UMD-BRCA1
  1. Caputo S, Benboudjema L, Sinilnikova O, Rouleau E, Beroud C, Lidereau R. 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: D992-1002.

UMD-BRCA2
  1. Caputo S, Benboudjema L, Sinilnikova O, Rouleau E, Beroud C, Lidereau R. 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: D992-1002.

UMD-CFTR
  1. Bareil C, Theze C, Beroud C, Hamroun D, Guittard C, Rene C, Paulet D, des Georges M, Claustres M. UMD-CFTR: a database dedicated to CF and CFTR-related disorders. Hum Mutat 2010; 31 (9): 1011-1019.

UMD-DMD
  1. Tuffery-Giraud S and Beroud C, Leturcq F, Yaou RB, Hamroun D, Michel-Calemard L, Moizard MP, Bernard R, Cossee M, Boisseau P, Blayau M, Creveaux I, Guiochon-Mantel A, de Martinville B, Philippe C, Monnier N, Bieth E, Van Kien PK, Desmet FO, Humbertclaude V, Kaplan JC, Chelly J, Claustres M.Hum Mutat 2009; 30 (6): 934-945.
  2. Beroud C, Tuffery-Giraud S, Matsuo M, Hamroun D, Humbertclaude V, Monnier N, Moizard MP, Voelckel MA, Calemard LM, Boisseau P, Blayau M, Philippe C, Cossee M, Pages 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 dystrophyHum Mutat 2007; 28 (2): 196-202.

UMD-DYSF
  1. Blandin G, Beroud C, Labelle V, Nguyen K, Wein N, Hamroun D, Williams B, Monnier N, Rufibach LE, Urtizberea JA, Cau P, Bartoli M, Levy 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): E2317-2331.
  2. Krahn M, Beroud C, Labelle V, Nguyen K, Bernard R, Bassez G, Figarella-Branger D, Fernandez C, Bouvenot J, Richard I, Ollagnon-Roman E, Bevilacqua J,A. Salvo E, Attarian S, Chapon F, Pellissier JF, Pouget J, Hammouda el H, Laforet P, Urtizberea JA, Eymard B, Leturcq F, Levy N. Analysis of the DYSF mutational spectrum in a large cohort of patients. Hum Mutat 2009; 30 (2): E345-375.

UMD-DYT6
  1. Blanchard A, Ea V, Roubertie A, Martin M, Coquart C, Claustres M, Beroud C, Collod-Beroud 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): 1213-1224.

UMD-FBN1
  1. Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Ades LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet 2007; 81 (3): 454-466.
  2. Collod-Beroud G, Le Bourdelles S, Ades L, Ala-Kokko L, Booms P, Boxer M, Chil, 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, Beroud C, Boileau C. Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat 2003; 22: 199-208.
  3. Collod-Beroud G, Beroud 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-Beroud G, Beroud 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.
  5. Collod G, Beroud 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.

UMD-FBN2
  1. Frederic 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, Beroud C, Collod-Beroud G. The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlationsHum Mutat 2009; 30 (2): 181-190.

UMD-LDLR
  1. Villeger L, Abifadel M, Allard D, Rabes J P, Thiart R, Kotze M J, Beroud 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.
  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, Beroud 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. Varret M, Rabes J P, Collod-Beroud G, Junien C, Boileau C, Beroud C. Software and database for the analysis of mutations in the human LDL receptor gene. Nucleic Acids Res 1997; 25: 172-80.

UMD-MEN1
  1. Wautot V, Vercherat C, Lespinasse J, Chambe B, Lenoir G M, Zhang C X, Porchet N, Cordier M, Beroud 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-p53
  1. Soussi T, Hamroun D, Hjortsberg L, Rubio-Nevado JM, Fournier JL, Beroud C. MUT-TP53 2.0: a novel versatile matrix for statistical analysis of TP53 mutations in human cancer. Hum Mutat 2010; 31: 1020-1025.
  2. Soussi T, Ishioka C, Claustres M, Beroud C. Locus-specific mutation databases: pitfalls and good practice based on the p53 experience. Nat Rev Cancer 2006; 6 (1): 83-90.
  3. Soussi T, Asselain B, Hamroun D, Kato S, Ishioka C, Claustres M, Beroud C. Meta-analysis of the p53 mutation database for mutant p53 biological activity reveals a methodologic bias in mutation detection. Clin Cancer Res 2006; 12: 62-69.
  4. Soussi T, Beroud C. Significance of TP53 mutations in human cancer: A critical analysis of mutations at CpG dinucleotides. Hum Mutat 2003; 21: 192-200.
  5. Beroud C, Soussi T. The UMD-p53 database: New mutations and analysis tools. Hum Mutat 2003; 21: 176-81.
  6. Soussi T, Beroud C. Assessing TP53 status in human tumours to evaluate clinical outcome. Nat Rev Cancer 2001; 1: 233-40.
  7. Soussi T, Dehouche K, Beroud 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.
  8. Beroud C, Soussi T. p53 gene mutation: software and database. Nucleic Acids Res 1998; 26: 200-4.
  9. Beroud C, Soussi T. p53 and APC gene mutations: software and databases. Nucleic Acids Res 1997; 25: 138.
  10. Beroud C, Verdier F, Soussi T. p53 gene mutation: software and database. Nucleic Acids Res 1996; 24: 147-50.

UMD-TGFBR2
  1. Frederic MY, Hamroun D, Faivre L, Boileau C, Jondeau G, Claustres M, Beroud C, Collod-Beroud G. A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2. Hum Mutat 2008; 29 (1): 33-38.

UMD-VHL
  1. Gallou C, Joly D, Mejean A, Staroz F, Martin N, Tarlet G, Orfanelli MT, Bouvier R, Droz D, Chretien Y, Marechal JM, Richard S, Junien C, Beroud C. Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC. Hum Mutat 1999; 13 (6): 464-475.
  2. Beroud 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, Beroud 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.