Search Results - Hemanth Tummala

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  1. 1
    Inherited bone marrow failure in the pediatric patient

    Inherited bone marrow failure in the pediatric patient by Inderjeet Dokal, Hemanth Tummala, Tom Vulliamy

    Published 2022
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  2. 2
    The biology and management of dyskeratosis congenita and related disorders of telomeres

    The biology and management of dyskeratosis congenita and related disorders of telomeres by Hemanth Tummala, Amanda J. Walne, Inderjeet Dokal

    Published 2022
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  3. 3
    PSIP1/LEDGF reduces R-loops at transcription sites to maintain genome integrity

    PSIP1/LEDGF reduces R-loops at transcription sites to maintain genome integrity by Sundarraj Jayakumar, Manthan Patel, Fanny Boulet, Hadicha Aziz, Greg N. Brooke, Hemanth Tummala, Madapura M. Pradeepa

    Published 2024
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  4. 4
    ERCC6L2 Mutations Link a Distinct Bone-Marrow-Failure Syndrome to DNA Repair and Mitochondrial Function

    ERCC6L2 Mutations Link a Distinct Bone-Marrow-Failure Syndrome to DNA Repair and Mitochondrial Function by Hemanth Tummala, Michael Kirwan, Amanda J. Walne, Upal Hossain, Nicholas Jackson, Corinne Pondarré, Vincent Plagnol, Tom Vulliamy, Inderjeet Dokal

    Published 2014
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  5. 5
    Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita

    Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita by Hemanth Tummala, Amanda J. Walne, Laura C. Collopy, Shirleny Cardoso, Josu de la Fuente, Sarah Lawson, James Powell, Nicola Cooper, Alison Foster, Shehla Mohammed, Vincent Plagnol, Thomas J. Vulliamy, Inderjeet Dokal

    Published 2015
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  6. 6
    Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia

    Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia by Shirleny Cardoso, Gavin Ryan, Amanda J. Walne, Alicia Ellison, Robert Lowe, Hemanth Tummala, Ana Rio‐Machín, Laura C. Collopy, Ahad Al Seraihi, Yvonne Wallis, Paula Page, Susanna Akiki, Jude Fitzgibbon, Tom Vulliamy, Inderjeet Dokal

    Published 2016
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  7. 7
    Triallelic and epigenetic-like inheritance in human disorders of telomerase

    Triallelic and epigenetic-like inheritance in human disorders of telomerase by Laura C. Collopy, Amanda J. Walne, Shirleny Cardoso, Josu de la Fuente, Mahfuzah Mohamed, Helga V. Toriello, Hannah Tamary, Adam J. Y. V. Ling, Timothy Lloyd, Rebecca Kassam, Hemanth Tummala, Thomas J. Vulliamy, Inderjeet Dokal

    Published 2015
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  8. 8
    DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation

    DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation by Hemanth Tummala, Amanda J. Walne, Mike Williams, Nicholas Bockett, Laura C. Collopy, Shirleny Cardoso, Alicia Ellison, Robert Wynn, Thierry Leblanc, Jude Fitzgibbon, David P. Kelsell, David A. van Heel, Elspeth Payne, Vincent Plagnol, Inderjeet Dokal, Tom Vulliamy

    Published 2016
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  9. 9
    Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis

    Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis by A. J. Walne, Laura C. Collopy, Shirleny Cardoso, Alicia Ellison, Vincent Plagnol, Canan Albayrak, Davut Albayrak, Sara Şebnem Kılıç, Turkan Pat roglu, Himmet Haluk Akar, Keith M. Godfrey, T. Carter, Makia J. Marafie, Ajay Vora, Mikael Sundin, Tom Vulliamy, Hemanth Tummala, Inderjeet Dokal

    Published 2016
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  10. 10
    Ribosomal DNA copy number is associated with body mass in humans and other mammals

    Ribosomal DNA copy number is associated with body mass in humans and other mammals by Pui Pik Law, Liudmila A Mikheeva, Francisco Rodríguez-Algarra, Fredrika Åsenius, Maria Gregori, Robert A. Seaborne, Selin Yildizoglu, James R. C. Miller, Hemanth Tummala, Robin Mesnage, Michael Antoniou, Weilong Li, Qihua Tan, Sara Hillman, Vardhman K. Rakyan, David Williams, Michelle L. Holland

    Published 2024
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  11. 11
    Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic <i>ERCC6L2</i> variants

    Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic <i>ERCC6L2</i> variants by Hemanth Tummala, Arran Dokal, Amanda J. Walne, Alicia Ellison, Shirleny Cardoso, Saranha Amirthasigamanipillai, Michael Kirwan, Isobel Browne, Jasmin Sidhu, Vinothini Rajeeve, Ana Rio‐Machín, Ahad Al Seraihi, Andrew Duncombe, Matthew Jenner, Owen Smith, Helen Enright, Alice Norton, Tekin Aksu, Namık Yaşar Özbek, Nikolas Pontikos, Pedro R. Cutillas, Inderjeet Dokal, Tom Vulliamy

    Published 2018
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  12. 12
    The evolving genetic landscape of telomere biology disorder dyskeratosis congenita

    The evolving genetic landscape of telomere biology disorder dyskeratosis congenita by Hemanth Tummala, Amanda J. Walne, Mohsin Badat, Manthan Patel, Abigail M Walne, Jenna Alnajar, C. C. Chow, Ibtehal Albursan, Jennifer M. Frost, David Ballard, Sally Killick, Peter Szitányi, Anne M. Kelly, Manoj Raghavan, Corrina Powell, Reinier Raymakers, Tony Todd, Elpis Mantadakis, Sophia Polychronopoulou, Nikolas Pontikos, Tianyi Liao, Pradeep Madapura, Upal Hossain, T. Vulliamy, Inderjeet Dokal

    Published 2024
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  13. 13
    GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML

    GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML by Ahad Al Seraihi, Ana Rio‐Machín, Kiran Tawana, Csaba Bödör, Jun Wang, A. Nagano, James A. Heward, Sameena Iqbal, Steven Best, Nicholas Lea, Donal P. McLornan, Emilia J. Kozyra, Marcin W. Włodarski, Charlotte M. Niemeyer, Hamish S. Scott, Christopher N Hahn, Alicia Ellison, Hemanth Tummala, Shirleny Cardoso, Tom Vulliamy, Inderjeet Dokal, Tom Butler, Matthew Smith, Jamie Cavenagh, Jude Fitzgibbon

    Published 2018
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  14. 14
    The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

    The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants by Ana Rio‐Machín, Tom Vulliamy, Nele Hug, Amanda J. Walne, Kiran Tawana, Shirleny Cardoso, Alicia Ellison, Nikolas Pontikos, Jun Wang, Hemanth Tummala, Ahad Al Seraihi, Jenna Alnajar, Findlay Bewicke‐Copley, Hannah Armes, Michael J. Barnett, Adrian Bloor, Csaba Bödör, David Bowen, Pierre Fenaux, Andrew Green, Andrew R. Hallahan, Henrik Hjorth‐Hansen, Upal Hossain, Sally Killick, Sarah Lawson, Mark Layton, Alison Male, Judith Marsh, Priyanka Mehta, Rogier Mous, Josep Nomdedéu, Carolyn Owen, Jiří Pavlů, Elspeth Payne, Rachel Protheroe, Claude Preudhomme, Núria Pujol‐Moix, Aline Renneville, Nigel H. Russell, Anand Saggar, Gabriela Sciuccati, David Taussig, Cynthia L. Toze, Anne Uyttebroeck, Peter Vandenberghe, Brigitte Schlegelberger, Tim Ripperger, Doris Steinemann, John K. Wu, Joanne Mason, Paula Page, Susanna Akiki, Kim Reay, Jamie Cavenagh, Vincent Plagnol, Javier F. Cáceres, Jude Fitzgibbon, Inderjeet Dokal

    Published 2020
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