ALISON BERTUCH to Child, Preschool
This is a "connection" page, showing publications ALISON BERTUCH has written about Child, Preschool.
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0.565
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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: 0.060
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Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders. J Pediatr. 2021 03; 230:55-61.e4.
Score: 0.058
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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: 0.054
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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: 0.045
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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: 0.037
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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: 0.034
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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: 0.030
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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: 0.020
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Novel SAMD9 Variant Causing MIRAGE Syndrome Treated with Subcutaneous Immunoglobulin. J Clin Immunol. 2024 09 30; 45(1):19.
Score: 0.019
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Liver disease and transplantation in telomere biology disorders: An international multicenter cohort. Hepatol Commun. 2024 07 01; 8(7).
Score: 0.019
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Hematologic complications with age in Shwachman-Diamond syndrome. Blood Adv. 2022 01 11; 6(1):297-306.
Score: 0.016
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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: 0.015
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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: 0.014
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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: 0.013
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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: 0.013
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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: 0.013
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Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 03; 21(3):663-675.
Score: 0.013
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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: 0.012
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Somatic mutations and clonal hematopoiesis in congenital neutropenia. Blood. 2018 01 25; 131(4):408-416.
Score: 0.012
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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: 0.012
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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: 0.011
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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: 0.011
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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245.
Score: 0.011
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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: 0.009
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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: 0.008
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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: 0.006