ALISON BERTUCH to Pedigree
This is a "connection" page, showing publications ALISON BERTUCH has written about Pedigree.
Connection Strength
0.613
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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: 0.132
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Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia. Hum Mutat. 2020 11; 41(11):1918-1930.
Score: 0.128
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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: 0.120
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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: 0.083
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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: 0.077
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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: 0.027
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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: 0.024
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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: 0.022