The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
Familial myeloid malignancies have recently been classified as separate disease entities. Here, using whole-exome sequencing of affected pedigrees - the authors highlight genetic variants associated with these conditions.
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Nature Portfolio
2020
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oai:doaj.org-article:a25bb12eaf454851a551304c03cbab092021-12-02T17:32:43ZThe complex genetic landscape of familial MDS and AML reveals pathogenic germline variants10.1038/s41467-020-14829-52041-1723https://doaj.org/article/a25bb12eaf454851a551304c03cbab092020-02-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-14829-5https://doaj.org/toc/2041-1723Familial myeloid malignancies have recently been classified as separate disease entities. Here, using whole-exome sequencing of affected pedigrees - the authors highlight genetic variants associated with these conditions.Ana Rio-MachinTom VulliamyNele HugAmanda WalneKiran TawanaShirleny CardosoAlicia EllisonNikolas PontikosJun WangHemanth TummalaAhad Fahad H. Al SeraihiJenna AlnajarFindlay Bewicke-CopleyHannah ArmesMichael BarnettAdrian BloorCsaba BödörDavid BowenPierre FenauxAndrew GreenAndrew HallahanHenrik Hjorth-HansenUpal HossainSally KillickSarah LawsonMark LaytonAlison M. MaleJudith MarshPriyanka MehtaRogier MousJosep F. NomdedéuCarolyn OwenJiri PavluElspeth M. PayneRachel E. ProtheroeClaude PreudhommeNuria Pujol-MoixAline RennevilleNigel RussellAnand SaggarGabriela SciuccatiDavid TaussigCynthia L. TozeAnne UyttebroeckPeter VandenbergheBrigitte SchlegelbergerTim RippergerDoris SteinemannJohn WuJoanne MasonPaula PageSusanna AkikiKim ReayJamie D. CavenaghVincent PlagnolJavier F. CaceresJude FitzgibbonInderjeet DokalNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-12 (2020) |
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DOAJ |
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EN |
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Science Q |
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Science Q Ana Rio-Machin Tom Vulliamy Nele Hug Amanda Walne Kiran Tawana Shirleny Cardoso Alicia Ellison Nikolas Pontikos Jun Wang Hemanth Tummala Ahad Fahad H. Al Seraihi Jenna Alnajar Findlay Bewicke-Copley Hannah Armes Michael Barnett Adrian Bloor Csaba Bödör David Bowen Pierre Fenaux Andrew Green Andrew Hallahan Henrik Hjorth-Hansen Upal Hossain Sally Killick Sarah Lawson Mark Layton Alison M. Male Judith Marsh Priyanka Mehta Rogier Mous Josep F. Nomdedéu Carolyn Owen Jiri Pavlu Elspeth M. Payne Rachel E. Protheroe Claude Preudhomme Nuria Pujol-Moix Aline Renneville Nigel Russell Anand Saggar Gabriela Sciuccati David Taussig Cynthia L. Toze Anne Uyttebroeck Peter Vandenberghe Brigitte Schlegelberger Tim Ripperger Doris Steinemann John Wu Joanne Mason Paula Page Susanna Akiki Kim Reay Jamie D. Cavenagh Vincent Plagnol Javier F. Caceres Jude Fitzgibbon Inderjeet Dokal The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants |
| description |
Familial myeloid malignancies have recently been classified as separate disease entities. Here, using whole-exome sequencing of affected pedigrees - the authors highlight genetic variants associated with these conditions. |
| format |
article |
| author |
Ana Rio-Machin Tom Vulliamy Nele Hug Amanda Walne Kiran Tawana Shirleny Cardoso Alicia Ellison Nikolas Pontikos Jun Wang Hemanth Tummala Ahad Fahad H. Al Seraihi Jenna Alnajar Findlay Bewicke-Copley Hannah Armes Michael Barnett Adrian Bloor Csaba Bödör David Bowen Pierre Fenaux Andrew Green Andrew Hallahan Henrik Hjorth-Hansen Upal Hossain Sally Killick Sarah Lawson Mark Layton Alison M. Male Judith Marsh Priyanka Mehta Rogier Mous Josep F. Nomdedéu Carolyn Owen Jiri Pavlu Elspeth M. Payne Rachel E. Protheroe Claude Preudhomme Nuria Pujol-Moix Aline Renneville Nigel Russell Anand Saggar Gabriela Sciuccati David Taussig Cynthia L. Toze Anne Uyttebroeck Peter Vandenberghe Brigitte Schlegelberger Tim Ripperger Doris Steinemann John Wu Joanne Mason Paula Page Susanna Akiki Kim Reay Jamie D. Cavenagh Vincent Plagnol Javier F. Caceres Jude Fitzgibbon Inderjeet Dokal |
| author_facet |
Ana Rio-Machin Tom Vulliamy Nele Hug Amanda Walne Kiran Tawana Shirleny Cardoso Alicia Ellison Nikolas Pontikos Jun Wang Hemanth Tummala Ahad Fahad H. Al Seraihi Jenna Alnajar Findlay Bewicke-Copley Hannah Armes Michael Barnett Adrian Bloor Csaba Bödör David Bowen Pierre Fenaux Andrew Green Andrew Hallahan Henrik Hjorth-Hansen Upal Hossain Sally Killick Sarah Lawson Mark Layton Alison M. Male Judith Marsh Priyanka Mehta Rogier Mous Josep F. Nomdedéu Carolyn Owen Jiri Pavlu Elspeth M. Payne Rachel E. Protheroe Claude Preudhomme Nuria Pujol-Moix Aline Renneville Nigel Russell Anand Saggar Gabriela Sciuccati David Taussig Cynthia L. Toze Anne Uyttebroeck Peter Vandenberghe Brigitte Schlegelberger Tim Ripperger Doris Steinemann John Wu Joanne Mason Paula Page Susanna Akiki Kim Reay Jamie D. Cavenagh Vincent Plagnol Javier F. Caceres Jude Fitzgibbon Inderjeet Dokal |
| author_sort |
Ana Rio-Machin |
| title |
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants |
| title_short |
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants |
| title_full |
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants |
| title_fullStr |
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants |
| title_full_unstemmed |
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants |
| title_sort |
complex genetic landscape of familial mds and aml reveals pathogenic germline variants |
| publisher |
Nature Portfolio |
| publishDate |
2020 |
| url |
https://doaj.org/article/a25bb12eaf454851a551304c03cbab09 |
| work_keys_str_mv |
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