ALISON BERTUCH to Phenotype
This is a "connection" page, showing publications ALISON BERTUCH has written about Phenotype.
Connection Strength
0.387
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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: 0.098
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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: 0.046
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Measuring relative telomere length: is tissue an issue? Aging (Albany NY). 2010 Nov; 2(11):756-7.
Score: 0.045
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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: 0.029
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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: 0.026
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Expansion of the clinical phenotype of GALE deficiency. Am J Med Genet A. 2021 10; 185(10):3118-3121.
Score: 0.023
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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: 0.021
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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: 0.019
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Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 03; 21(3):663-675.
Score: 0.019
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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: 0.019
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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: 0.017
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Regulation of Ku-DNA association by Yku70 C-terminal tail and SUMO modification. J Biol Chem. 2014 Apr 11; 289(15):10308-10317.
Score: 0.014
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Segregating YKU80 and TLC1 alleles underlying natural variation in telomere properties in wild yeast. PLoS Genet. 2009 Sep; 5(9):e1000659.
Score: 0.010