ALISON BERTUCH to Germ-Line Mutation
This is a "connection" page, showing publications ALISON BERTUCH has written about Germ-Line Mutation.
Connection Strength
1.700
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Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia. Hum Mutat. 2020 11; 41(11):1918-1930.
Score: 0.589
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A new mutant at the end: TPP1, telomeres, and BMF. Blood. 2014 Oct 30; 124(18):2757-8.
Score: 0.393
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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: 0.164
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Association of unbalanced translocation der(1;7) with germline GATA2 mutations. Blood. 2021 12 09; 138(23):2441-2445.
Score: 0.161
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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: 0.139
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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: 0.099
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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: 0.051
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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: 0.049
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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: 0.029
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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: 0.027