Alison Bertuch
Alison Bertuch
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Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders
A Stray-Pedersen, HS Sorte, P Samarakoon, T Gambin, IK Chinn, ...
Journal of Allergy and Clinical Immunology 139 (1), 232-245, 2017
The genetics and clinical manifestations of telomere biology disorders
SA Savage, AA Bertuch
Genetics in Medicine 12 (12), 753-764, 2010
Germline mutations in shelterin complex genes are associated with familial glioma
MN Bainbridge, GN Armstrong, MM Gramatges, AA Bertuch, ...
Journal of the National Cancer Institute 107 (1), dju384, 2015
The molecular genetics of the telomere biology disorders
AA Bertuch
RNA biology 13 (8), 696-706, 2016
Dyskeratosis congenita as a disorder of telomere maintenance
ND Nelson, AA Bertuch
Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 730 (1 …, 2012
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants
X Luo, S Feurstein, S Mohan, CC Porter, SA Jackson, S Keel, M Chicka, ...
Blood Advances 3 (20), 2962-2979, 2019
A role for heterochromatin protein 1γ at human telomeres
S Canudas, BR Houghtaling, M Bhanot, G Sasa, SA Savage, AA Bertuch, ...
Genes & development 25 (17), 1807-1819, 2011
Distinct faces of the Ku heterodimer mediate DNA repair and telomeric functions
A Ribes-Zamora, I Mihalek, O Lichtarge, AA Bertuch
Nature structural & molecular biology 14 (4), 301-307, 2007
The Ku heterodimer performs separable activities at double-strand breaks and chromosome termini
AA Bertuch, V Lundblad
Molecular and cellular biology 23 (22), 8202-8215, 2003
Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia
P Hermanns, AA Bertuch, TK Bertin, B Dawson, ME Schmitt, C Shaw, ...
Human molecular genetics 14 (23), 3723-3740, 2005
Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes
JE Churpek, R Lorenz, S Nedumgottil, K Onel, OI Olopade, A Sorrell, ...
Leukemia & lymphoma 54 (1), 28-35, 2013
EXO1 Contributes to Telomere Maintenance in Both Telomerase-Proficient and Telomerase-Deficient Saccharomyces cerevisiae
AA Bertuch, V Lundblad
Genetics 166 (4), 1651-1659, 2004
Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome
AL Kennedy, KC Myers, J Bowman, CJ Gibson, ND Camarda, E Furutani, ...
Nature communications 12 (1), 1334, 2021
Somatic mutations and clonal hematopoiesis in congenital neutropenia
J Xia, CA Miller, J Baty, A Ramesh, MRM Jotte, RS Fulton, TP Vogel, ...
Blood, The Journal of the American Society of Hematology 131 (4), 408-416, 2018
Specific stimulation of simian virus 40 late transcription in vitro by a cellular factor binding the simian virus 40 21-base-pair repeat promoter element.
CH Kim, C Heath, A Bertuch, U Hansen
Proceedings of the National Academy of Sciences 84 (17), 6025-6029, 1987
Poly (ADP-ribose) polymerase inhibitor ABT-888 potentiates the cytotoxic activity of temozolomide in leukemia cells: influence of mismatch repair status and O 6-methylguanine …
TM Horton, G Jenkins, D Pati, L Zhang, ME Dolan, A Ribes-Zamora, ...
Molecular cancer therapeutics 8 (8), 2232-2242, 2009
Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood
GS Sasa, A Ribes‐Zamora, ND Nelson, AA Bertuch
Clinical genetics 81 (5), 470-478, 2012
TRF2 interaction with Ku heterotetramerization interface gives insight into c-NHEJ prevention at human telomeres
A Ribes-Zamora, SM Indiviglio, I Mihalek, CL Williams, AA Bertuch
Cell reports 5 (1), 194-206, 2013
Evaluation of patients and families with concern for predispositions to hematologic malignancies within the Hereditary Hematologic Malignancy Clinic (HHMC)
CD DiNardo, SA Bannon, M Routbort, A Franklin, M Mork, M Armanios, ...
Clinical Lymphoma Myeloma and Leukemia 16 (7), 417-428. e2, 2016
Consider the workhorse: Nonhomologous end-joining in budding yeast
CH Emerson, AA Bertuch
Biochemistry and cell biology 94 (5), 396-406, 2016
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