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SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Hum Mutat. 2022 Dec;43(12):2308-2323. doi: 10.1002/humu.24491. Epub 2022 Nov 20.
Hum Mutat. 2022.
PMID: 36273432
Free PMC article.
Mutation analysis of PALB2 gene in French breast cancer families.
Damiola F, Schultz I, Barjhoux L, Sornin V, Dondon MG, Eon-Marchais S, Marcou M; GENESIS Study Investigators; Caron O, Gauthier-Villars M, de Pauw A, Luporsi E, Berthet P, Delnatte C, Bonadona V, Maugard C, Pujol P, Lasset C, Longy M, Bignon YJ, Fricker JP, Andrieu N, Sinilnikova OM, Stoppa-Lyonnet D, Mazoyer S, Muller D.
Damiola F, et al. Among authors: schultz i.
Breast Cancer Res Treat. 2015 Dec;154(3):463-71. doi: 10.1007/s10549-015-3625-7. Epub 2015 Nov 12.
Breast Cancer Res Treat. 2015.
PMID: 26564480
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Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.
Leman R, Tubeuf H, Raad S, Tournier I, Derambure C, Lanos R, Gaildrat P, Castelain G, Hauchard J, Killian A, Baert-Desurmont S, Legros A, Goardon N, Quesnelle C, Ricou A, Castera L, Vaur D, Le Gac G, Ka C, Fichou Y, Bonnet-Dorion F, Sevenet N, Guillaud-Bataille M, Boutry-Kryza N, Schultz I, Caux-Moncoutier V, Rossing M, Walker LC, Spurdle AB, Houdayer C, Martins A, Krieger S.
Leman R, et al. Among authors: schultz i.
BMC Genomics. 2020 Jan 28;21(1):86. doi: 10.1186/s12864-020-6484-5.
BMC Genomics. 2020.
PMID: 31992191
Free PMC article.
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5' Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints.
Caputo SM, Telly D, Briaux A, Sesen J, Ceppi M, Bonnet F, Bourdon V, Coulet F, Castera L, Delnatte C, Hardouin A, Mazoyer S, Schultz I, Sevenet N, Uhrhammer N, Bonnet C, Tilkin-Mariamé AF, Houdayer C, Moncoutier V, Andrieu C, French Covar Group Collaborators, Bièche I, Stern MH, Stoppa-Lyonnet D, Lidereau R, Toulas C, Rouleau E.
Caputo SM, et al. Among authors: schultz i.
Cancers (Basel). 2021 Jun 25;13(13):3171. doi: 10.3390/cancers13133171.
Cancers (Basel). 2021.
PMID: 34202044
Free PMC article.
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Functional interaction between poly(ADP-Ribose) polymerase 2 (PARP-2) and TRF2: PARP activity negatively regulates TRF2.
Dantzer F, Giraud-Panis MJ, Jaco I, Amé JC, Schultz I, Blasco M, Koering CE, Gilson E, Ménissier-de Murcia J, de Murcia G, Schreiber V.
Dantzer F, et al. Among authors: schultz i.
Mol Cell Biol. 2004 Feb;24(4):1595-607. doi: 10.1128/MCB.24.4.1595-1607.2004.
Mol Cell Biol. 2004.
PMID: 14749375
Free PMC article.
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Poly(ADP-ribose) polymerase-2 (PARP-2) is required for efficient base excision DNA repair in association with PARP-1 and XRCC1.
Schreiber V, Amé JC, Dollé P, Schultz I, Rinaldi B, Fraulob V, Ménissier-de Murcia J, de Murcia G.
Schreiber V, et al. Among authors: schultz i.
J Biol Chem. 2002 Jun 21;277(25):23028-36. doi: 10.1074/jbc.M202390200. Epub 2002 Apr 10.
J Biol Chem. 2002.
PMID: 11948190
Free article.
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An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition.
Muller D, Rouleau E, Schultz I, Caputo S, Lefol C, Bièche I, Caron O, Noguès C, Limacher JM, Demange L, Lidereau R, Fricker JP, Abecassis J.
Muller D, et al. Among authors: schultz i.
BMC Med Genet. 2011 Sep 22;12:121. doi: 10.1186/1471-2350-12-121.
BMC Med Genet. 2011.
PMID: 21939546
Free PMC article.
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