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Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients.
Schroeder C, Faust U, Krauße L, Liebmann A, Abele M, Demidov G, Schütz L, Kelemen O, Pohle A, Gauß S, Sturm M, Roggia C, Streiter M, Buchert R, Armenau-Ebinger S, Nann D, Beschorner R, Handgretinger R, Ebinger M, Lang P, Holzer U, Skokowa J, Ossowski S, Haack TB, Mau-Holzmann UA, Dufke A, Riess O, Brecht IB. Schroeder C, et al. Among authors: haack tb. Eur J Hum Genet. 2023 Oct;31(10):1139-1146. doi: 10.1038/s41431-023-01423-8. Epub 2023 Jul 28. Eur J Hum Genet. 2023. PMID: 37507557 Free PMC article.
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group; Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND; Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortia. Matalonga L, et al. Eur J Hum Genet. 2021 Sep;29(9):1337-1347. doi: 10.1038/s41431-021-00852-7. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075210 Free PMC article.
Germline findings in patients with advanced malignancies screened with paired blood-tumour testing for personalised treatment approaches.
Roggia C, Armeanu-Ebinger S, Gschwind A, Seibel-Kelemen O, Hertler S, Faust U, Liebmann A, Haack TB, Neumann M, Bonzheim I, Forschner A, Kopp HG, Herster F, Hartkopf A, Bitzer M, Malek NP, Brecht IB, Ruhm K, Möller Y, Löwenheim H, Ossowski S, Rieß OH, Schroeder C. Roggia C, et al. Among authors: haack tb. Eur J Cancer. 2023 Jan;179:48-55. doi: 10.1016/j.ejca.2022.11.003. Epub 2022 Nov 8. Eur J Cancer. 2023. PMID: 36495689
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Among authors: haack tb. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome.
Witt D, Faust U, Strobl-Wildemann G, Sturm M, Buchert R, Zuleger T, Admard J, Casadei N, Ossowski S, Haack TB, Rieß O, Schroeder C. Witt D, et al. Among authors: haack tb. Mol Genet Genomic Med. 2023 Jun;11(6):e2151. doi: 10.1002/mgg3.2151. Epub 2023 Feb 9. Mol Genet Genomic Med. 2023. PMID: 36760167 Free PMC article.
Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly.
Bilal M, Haack TB, Buchert R, Peralta S, Uddin N, Ali RH, Liaqat K, Ahmad W. Bilal M, et al. Among authors: haack tb. Mol Syndromol. 2023 Jun;14(3):201-207. doi: 10.1159/000528651. Epub 2023 Feb 1. Mol Syndromol. 2023. PMID: 37323198 Free PMC article.
313 results