Alison A Bertuch

Publication Activity (10 Years)

Years Active: 2015-2024
Publications (10 Years): 15

Top Topics

Acute Myeloid Leukemia

Newly Diagnosed

Top Venues

American journal of medical genetics. Part A

bioRxiv : the preprint server for biology

This page only lists publications with an associated author ORCID identifier.

Publications

Luke D Maese, Marcin W Wlodarski, Sun Young Kim, Alison A Bertuch, Gaëlle Bougeard, Vivian Y Chang, Lucy A Godley, Payal P Khincha, Roland P Kuiper, Harry Lesmana, Rose B McGee, Lisa J McReynolds, Julia Meade, Sharon E Plon, Sharon A Savage, Sarah R Scollon, Hamish S Scott, Michael F Walsh, Kim E Nichols, Christopher C Porter
Update on Recommendations for Surveillance for Children with Predisposition to Hematopoietic Malignancy. Clinical cancer research : an official journal of the American Association for Cancer Research (2024)
Celina Y Jones, Christopher L Williams, Sara P Moreno, Danna K Morris, Chiara Mondello, Jan Karlseder, Alison A Bertuch
Hyperextended telomeres promote C-circle formation in telomerase positive human cells. bioRxiv : the preprint server for biology (2023)
Celina Y Jones, Christopher L Williams, Sara P Moreno, Danna K Morris, Chiara Mondello, Jan Karlseder, Alison A Bertuch
Hyperextended telomeres promote C-circle formation in telomerase positive human cells. bioRxiv : the preprint server for biology (2023)
Runjun D Kumar, Mustafa Tosur, Seema R Lalani, Donald H Mahoney, Alison A Bertuch
The germline p53 activation syndrome: A new patient further refines the clinical phenotype. American journal of medical genetics. Part A 188 (7) (2022)
Seunga Choo, Franziska K Lorbeer, Samuel G Regalado, Sarah B Short, Shannon S Wu, Gabrielle Rieser, Alison A Bertuch, Dirk Hockemeyer
Editing TINF2 as a potential therapeutic approach to restore telomere length in dyskeratosis congenita. Blood 140 (6) (2022)
Patrick Revy, Caroline Kannengiesser, Alison A Bertuch
Genetics of human telomere biology disorders. Nature reviews. Genetics (2022)
Rebecca Markovitz, Nichole Owen, Lisa Forbes Satter, Susan E Kirk, Donald H Mahoney, Alison A Bertuch, Fernando Scaglia
Expansion of the clinical phenotype of GALE deficiency. American journal of medical genetics. Part A 185 (10) (2021)
Gabrielle Henslee, Christopher L Williams, Pengfei Liu, Alison A Bertuch
Identification and characterization of novel ACD variants: modulation of TPP1 protein level offsets the impact of germline loss-of-function variants on telomere length. Cold Spring Harbor molecular case studies 7 (1) (2021)
Michael A Pulsipher, Leslie E Lehmann, Alison A Bertuch, Ghadir Sasa, Timothy Olson, Taizo A Nakano, Alfred Gilio, Lauri M Burroughs, Jeffrey M Lipton, James N Huang, Kathryn Dickerson, Alice Bertaina, Cindy Zhuang, Maggie Malsch, Mark Fleming, Edie Weller, Akiko Shimamura, David A Williams
A study assessing the feasibility of randomization of pediatric and young adult patients between matched unrelated donor bone marrow transplantation and immune-suppressive therapy for newly diagnosed severe aplastic anemia: A joint pilot trial of the North American Pediatric Aplastic Anemia Consortium and the Pediatric Transplantation and Cellular Therapy Consortium. Pediatric blood & cancer 67 (10) (2020)
Saleh Bhar, Fujun Zhou, Lucas C Reineke, Danna K Morris, Payal P Khincha, Neelam Giri, Lisa Mirabello, Katie Bergstrom, Laramie D Lemon, Christopher L Williams, Yukimatsu Toh, M Tarek Elghetany, Richard E Lloyd, Blanche P Alter, Sharon A Savage, Alison A Bertuch
Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia. Human mutation 41 (11) (2020)
Christopher G Tomlinson, Ghadir Sasa, Geraldine Aubert, Bailey Martin-Giacalone, Sharon E Plon, Tracy M Bryan, Alison A Bertuch, Maria Monica J Gramatges
Clinical and functional characterization of telomerase variants in patients with pediatric acute myeloid leukemia/myelodysplastic syndrome. Leukemia 35 (1) (2020)
Laramie D Lemon, Danna K Morris, Alison A Bertuch
Loss of Ku's DNA end binding activity affects telomere length via destabilizing telomere-bound Est1 rather than altering TLC1 homeostasis. Scientific reports 9 (1) (2019)
Kristen J Kurtz, Alessandro Baldan, Mikael Nissbeck, Sethu M R Gunja, Penelope E Bonnen, Geraldine Aubert, Sherri Birchansky, Anders Virtanen, Alison A Bertuch
From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants. Human mutation 40 (12) (2019)
Charlene H Emerson, Christopher R Lopez, Albert Ribes-Zamora, Erica J Polleys, Christopher L Williams, Lythou Yeo, Jacques E Zaneveld, Rui Chen, Alison A Bertuch
Ku DNA End-Binding Activity Promotes Repair Fidelity and Influences End-Processing During Nonhomologous End-Joining in Saccharomyces cerevisiae. Genetics 209 (1) (2018)
Pilar L Magoulas, Oleg A Shchelochkov, Matthew N Bainbridge, Shay Ben-Shachar, Svetlana Yatsenko, Lorraine Potocki, Richard Alan Lewis, Charles Searby, Andrea N Marcogliese, M Tarek Elghetany, Gladys Zapata, Paula P Hernández, Manasi Gadkari, Derek Einhaus, Donna M Muzny, Richard A Gibbs, Alison A Bertuch, Daryl A Scott, Silvia Corvera, Luis Miguel Franco
Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN. Blood 132 (6) (2018)
Erica J Polleys, Alison A Bertuch
Tryptophan-Dependent Control of Colony Formation After DNA Damage via Sea3-Regulated TORC1 Signaling in Saccharomyces cerevisiae. G3 (Bethesda, Md.) 5 (7) (2015)