ALISON BERTUCH to Humans
This is a "connection" page, showing publications ALISON BERTUCH has written about Humans.
Connection Strength
0.556
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Hyperextended telomeres promote formation of C-circle DNA in telomerase positive human cells. J Biol Chem. 2023 05; 299(5):104665.
Score: 0.023
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Genetics of human telomere biology disorders. Nat Rev Genet. 2023 02; 24(2):86-108.
Score: 0.022
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The germline p53 activation syndrome: A new patient further refines the clinical phenotype. Am J Med Genet A. 2022 07; 188(7):2204-2208.
Score: 0.021
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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 Harb Mol Case Stud. 2021 02; 7(1).
Score: 0.020
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Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders. J Pediatr. 2021 03; 230:55-61.e4.
Score: 0.019
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Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia. Hum Mutat. 2020 11; 41(11):1918-1930.
Score: 0.019
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From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants. Hum Mutat. 2019 12; 40(12):2414-2429.
Score: 0.018
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The C-Terminal Extension Unique to the Long Isoform of the Shelterin Component TIN2 Enhances Its Interaction with TRF2 in a Phosphorylation- and Dyskeratosis Congenita Cluster-Dependent Fashion. Mol Cell Biol. 2018 06 15; 38(12).
Score: 0.016
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Features of Hepatitis in Hepatitis-associated Aplastic Anemia: Clinical and Histopathologic Study. J Pediatr Gastroenterol Nutr. 2017 01; 64(1):e7-e12.
Score: 0.015
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Thrombopoietin Measurement as a Key Component in the Evaluation of Pediatric Thrombocytosis. Pediatr Blood Cancer. 2016 08; 63(8):1484-7.
Score: 0.014
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The molecular genetics of the telomere biology disorders. RNA Biol. 2016 08 02; 13(8):696-706.
Score: 0.013
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A new mutant at the end: TPP1, telomeres, and BMF. Blood. 2014 Oct 30; 124(18):2757-8.
Score: 0.013
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Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. BMC Med Genet. 2014 Jun 04; 15:64.
Score: 0.012
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TRF2 interaction with Ku heterotetramerization interface gives insight into c-NHEJ prevention at human telomeres. Cell Rep. 2013 Oct 17; 5(1):194-206.
Score: 0.012
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Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy. Transl Res. 2013 Dec; 162(6):353-63.
Score: 0.011
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A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome. Blood. 2013 May 02; 121(18):3586-93.
Score: 0.011
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Dyskeratosis congenita as a disorder of telomere maintenance. Mutat Res. 2012 Feb 01; 730(1-2):43-51.
Score: 0.010
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Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. Clin Genet. 2012 May; 81(5):470-8.
Score: 0.010
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The genetics and clinical manifestations of telomere biology disorders. Genet Med. 2010 Dec; 12(12):753-64.
Score: 0.010
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Measuring relative telomere length: is tissue an issue? Aging (Albany NY). 2010 Nov; 2(11):756-7.
Score: 0.010
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The role of telomeres and telomerase in cancer research. Cancer Res. 2010 Oct 01; 70(19):7365-71.
Score: 0.009
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Ku's essential role in keeping telomeres intact. Proc Natl Acad Sci U S A. 2009 Jul 28; 106(30):12217-8.
Score: 0.009
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Distinct faces of the Ku heterodimer mediate DNA repair and telomeric functions. Nat Struct Mol Biol. 2007 Apr; 14(4):301-7.
Score: 0.007
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The maintenance and masking of chromosome termini. Curr Opin Cell Biol. 2006 Jun; 18(3):247-53.
Score: 0.007
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Update on Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome. Clin Cancer Res. 2025 May 15; 31(10):1831-1840.
Score: 0.007
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ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders. J Clin Invest. 2025 Apr 15; 135(8).
Score: 0.007
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Ethosuximide-associated Aplastic Anemia Likely Due to Drug-induced Lupus Erythematosus: A Case Report With Immunologic Insights. J Pediatr Hematol Oncol. 2025 Apr 01; 47(3):131-134.
Score: 0.006
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Different phenotypes with different endings-Telomere biology disorders and cancer predisposition with long telomeres. Br J Haematol. 2025 Jan; 206(1):69-73.
Score: 0.006
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Update on Recommendations for Surveillance for Children with Predisposition to Hematopoietic Malignancy. Clin Cancer Res. 2024 Oct 01; 30(19):4286-4295.
Score: 0.006
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Novel SAMD9 Variant Causing MIRAGE Syndrome Treated with Subcutaneous Immunoglobulin. J Clin Immunol. 2024 09 30; 45(1):19.
Score: 0.006
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Liver disease and transplantation in telomere biology disorders: An international multicenter cohort. Hepatol Commun. 2024 07 01; 8(7).
Score: 0.006
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The Ku heterodimer performs separable activities at double-strand breaks and chromosome termini. Mol Cell Biol. 2003 Nov; 23(22):8202-15.
Score: 0.006
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Which end: dissecting Ku's function at telomeres and double-strand breaks. Genes Dev. 2003 Oct 01; 17(19):2347-50.
Score: 0.006
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Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM-associated syndromes. Am J Med Genet A. 2023 07; 191(7):1826-1835.
Score: 0.006
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The way to the end matters--the role of telomerase in tumor progression. Cell Cycle. 2003 Jan-Feb; 2(1):36-8.
Score: 0.006
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Pathogenicity and impact of HLA class I alleles in aplastic anemia patients of different ethnicities. JCI Insight. 2022 11 22; 7(22).
Score: 0.006
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Editing TINF2 as a potential therapeutic approach to restore telomere length in dyskeratosis congenita. Blood. 2022 08 11; 140(6):608-618.
Score: 0.005
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Hematologic complications with age in Shwachman-Diamond syndrome. Blood Adv. 2022 01 11; 6(1):297-306.
Score: 0.005
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Association of unbalanced translocation der(1;7) with germline GATA2 mutations. Blood. 2021 12 09; 138(23):2441-2445.
Score: 0.005
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Hematopoiesis under telomere attrition at the single-cell resolution. Nat Commun. 2021 11 25; 12(1):6850.
Score: 0.005
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Diagnostic work-up for severe aplastic anemia in children: Consensus of the North American Pediatric Aplastic Anemia Consortium. Am J Hematol. 2021 11 01; 96(11):1491-1504.
Score: 0.005
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Expansion of the clinical phenotype of GALE deficiency. Am J Med Genet A. 2021 10; 185(10):3118-3121.
Score: 0.005
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Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome. Nat Commun. 2021 02 26; 12(1):1334.
Score: 0.005
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Telomere dysfunction activates YAP1 to drive tissue inflammation. Nat Commun. 2020 09 21; 11(1):4766.
Score: 0.005
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Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency. Am J Med Genet A. 2020 11; 182(11):2781-2787.
Score: 0.005
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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. Pediatr Blood Cancer. 2020 10; 67(10):e28444.
Score: 0.005
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Clinical and functional characterization of telomerase variants in patients with pediatric acute myeloid leukemia/myelodysplastic syndrome. Leukemia. 2021 01; 35(1):269-273.
Score: 0.005
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ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants. Blood Adv. 2019 10 22; 3(20):2962-2979.
Score: 0.004
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Severe therapy-related toxicities after treatment for Hodgkin lymphoma due to a pathogenic TERT variant and shortened telomeres. Pediatr Blood Cancer. 2019 08; 66(8):e27779.
Score: 0.004
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Immunosuppressive therapy for pediatric aplastic anemia: a North American Pediatric Aplastic Anemia Consortium study. Haematologica. 2019 10; 104(10):1974-1983.
Score: 0.004
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Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 03 07; 104(3):422-438.
Score: 0.004
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Monozygotic twins with non-Down syndrome associated MLL-rearranged hematologic malignancy and megakaryoblastic differentiation. Leuk Lymphoma. 2019 04; 60(4):1083-1086.
Score: 0.004
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PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome: A rare cause of childhood neutropenia associated with systemic inflammation and hyperzincemia. Pediatr Blood Cancer. 2019 01; 66(1):e27439.
Score: 0.004
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Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 03; 21(3):663-675.
Score: 0.004
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Understanding the evolving phenotype of vascular complications in telomere biology disorders. Angiogenesis. 2019 02; 22(1):95-102.
Score: 0.004
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Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenita. Blood Adv. 2018 06 12; 2(11):1243-1249.
Score: 0.004
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Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN. Blood. 2018 08 09; 132(6):658-662.
Score: 0.004
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Somatic mutations and clonal hematopoiesis in congenital neutropenia. Blood. 2018 01 25; 131(4):408-416.
Score: 0.004
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Standardized high-sensitivity flow cytometry testing for paroxysmal nocturnal hemoglobinuria in children with acquired bone marrow failure disorders: A single center US study. Cytometry B Clin Cytom. 2018 07; 94(4):699-704.
Score: 0.004
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Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders. Eur Respir J. 2017 01; 49(1).
Score: 0.004
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Shorter Remission Telomere Length Predicts Delayed Neutrophil Recovery After Acute Myeloid Leukemia Therapy: A Report From the Children's Oncology Group. J Clin Oncol. 2016 11 01; 34(31):3766-3772.
Score: 0.004
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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245.
Score: 0.004
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Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC). Clin Lymphoma Myeloma Leuk. 2016 07; 16(7):417-428.e2.
Score: 0.003
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Germline mutations in shelterin complex genes are associated with familial glioma. J Natl Cancer Inst. 2015 Jan; 107(1):384.
Score: 0.003
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Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. J Clin Immunol. 2014 Oct; 34(7):871-90.
Score: 0.003
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Diagnosis and treatment of pediatric acquired aplastic anemia (AAA): an initial survey of the North American Pediatric Aplastic Anemia Consortium (NAPAAC). Pediatr Blood Cancer. 2014 May; 61(5):869-74.
Score: 0.003
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An S/T-Q cluster domain census unveils new putative targets under Tel1/Mec1 control. BMC Genomics. 2012 Nov 23; 13:664.
Score: 0.003
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Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes. Leuk Lymphoma. 2013 Jan; 54(1):28-35.
Score: 0.003
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Clinical, histopathologic, and genetic features of pediatric primary myelofibrosis--an entity different from adults. Am J Hematol. 2012 May; 87(5):461-4.
Score: 0.003
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A role for heterochromatin protein 1? at human telomeres. Genes Dev. 2011 Sep 01; 25(17):1807-19.
Score: 0.003
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Abdominal undifferentiated small round cell tumor with unique translocation (X;19)(q13;q13.3). Pediatr Blood Cancer. 2010 Jul 01; 54(7):1041-4.
Score: 0.002
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Poly(ADP-ribose) polymerase inhibitor ABT-888 potentiates the cytotoxic activity of temozolomide in leukemia cells: influence of mismatch repair status and O6-methylguanine-DNA methyltransferase activity. Mol Cancer Ther. 2009 Aug; 8(8):2232-42.
Score: 0.002
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Infantile fibrosarcoma: clinical and histologic responses to cytotoxic chemotherapy. Pediatr Blood Cancer. 2009 Jul; 53(1):23-7.
Score: 0.002
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Changes mimicking new leptomeningeal disease after intensity-modulated radiotherapy for medulloblastoma. Int J Radiat Oncol Biol Phys. 2009 Jan 01; 73(1):214-21.
Score: 0.002
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A single institution experience with pediatric nasopharyngeal carcinoma: high incidence of toxicity associated with platinum-based chemotherapy plus IMRT. J Pediatr Hematol Oncol. 2007 Jul; 29(7):500-5.
Score: 0.002
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Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. Hum Mol Genet. 2005 Dec 01; 14(23):3723-40.
Score: 0.002
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Telomeres and telomerase: at the end, it all comes together. Trends Cell Biol. 1999 Aug; 9(8):329-31.
Score: 0.001
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Papillary thyroid cancer: a pediatric perspective. Pediatrics. 1996 Sep; 98(3 Pt 1):464-6.
Score: 0.001
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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. Proc Natl Acad Sci U S A. 1987 Sep; 84(17):6025-9.
Score: 0.000