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Published in Human genetics (01.06.2021)
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Acquired somatic variants in inherited myeloid malignancies
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Published in Leukemia (01.05.2022)
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The evolving genetic landscape of telomere biology disorder dyskeratosis congenita
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Published in EMBO molecular medicine (14.10.2024)
Published in EMBO molecular medicine (14.10.2024)
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Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita
Tummala, Hemanth, Walne, Amanda, Buccafusca, Roberto, Alnajar, Jenna, Szabo, Anita, Robinson, Peter, McConkie-Rosell, Allyn, Wilson, Meredith, Crowley, Suzanne, Kinsler, Veronica, Ewins, Anna-Maria, Madapura, Pradeepa M., Patel, Manthan, Pontikos, Nikolas, Codd, Veryan, Vulliamy, Tom, Dokal, Inderjeet
Published in American journal of human genetics (11.07.2024)
Published in American journal of human genetics (11.07.2024)
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The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
Rio-Machin, Ana, Vulliamy, Tom, Hug, Nele, Walne, Amanda, Tawana, Kiran, Cardoso, Shirleny, Ellison, Alicia, Pontikos, Nikolas, Wang, Jun, Tummala, Hemanth, Al Seraihi, Ahad Fahad H., Alnajar, Jenna, Bewicke-Copley, Findlay, Armes, Hannah, Barnett, Michael, Bloor, Adrian, Bödör, Csaba, Bowen, David, Fenaux, Pierre, Green, Andrew, Hallahan, Andrew, Hjorth-Hansen, Henrik, Hossain, Upal, Killick, Sally, Lawson, Sarah, Layton, Mark, Male, Alison M., Marsh, Judith, Mehta, Priyanka, Mous, Rogier, Nomdedéu, Josep F., Owen, Carolyn, Pavlu, Jiri, Payne, Elspeth M., Protheroe, Rachel E., Preudhomme, Claude, Pujol-Moix, Nuria, Renneville, Aline, Russell, Nigel, Saggar, Anand, Sciuccati, Gabriela, Taussig, David, Toze, Cynthia L., Uyttebroeck, Anne, Vandenberghe, Peter, Schlegelberger, Brigitte, Ripperger, Tim, Steinemann, Doris, Wu, John, Mason, Joanne, Page, Paula, Akiki, Susanna, Reay, Kim, Cavenagh, Jamie D., Plagnol, Vincent, Caceres, Javier F., Fitzgibbon, Jude, Dokal, Inderjeet
Published in Nature communications (25.02.2020)
Published in Nature communications (25.02.2020)
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Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita
Tummala, Hemanth, Walne, Amanda, Buccafusca, Roberto, Alnajar, Jenna, Szabo, Anita, Robinson, Peter, McConkie-Rosell, Allyn, Wilson, Meredith, Crowley, Suzanne, Kinsler, Veronica, Ewins, Anna-Maria, Madapura, Pradeepa M., Patel, Manthan, Pontikos, Nikolas, Codd, Veryan, Vulliamy, Tom, Dokal, Inderjeet
Published in American journal of human genetics (04.08.2022)
Published in American journal of human genetics (04.08.2022)
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Genome-wide whole-blood transcriptome profiling across inherited bone marrow failure subtypes
Walne, Amanda J., Vulliamy, Tom, Bewicke-Copley, Findlay, Wang, Jun, Alnajar, Jenna, Bridger, Maria G., Ma, Bernard, Tummala, Hemanth, Dokal, Inderjeet
Published in Blood advances (14.12.2021)
Published in Blood advances (14.12.2021)
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