ALISON BERTUCH to Mutation
This is a "connection" page, showing publications ALISON BERTUCH has written about Mutation.
Connection Strength
1.032
-
Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. Clin Genet. 2012 May; 81(5):470-8.
Score: 0.139
-
Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders. J Pediatr. 2021 03; 230:55-61.e4.
Score: 0.067
-
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: 0.061
-
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: 0.058
-
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: 0.057
-
Ku DNA End-Binding Activity Promotes Repair Fidelity and Influences End-Processing During Nonhomologous End-Joining in Saccharomyces cerevisiae. Genetics. 2018 05; 209(1):115-128.
Score: 0.056
-
Somatic mutations and clonal hematopoiesis in congenital neutropenia. Blood. 2018 01 25; 131(4):408-416.
Score: 0.055
-
Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders. Eur Respir J. 2017 01; 49(1).
Score: 0.052
-
The molecular genetics of the telomere biology disorders. RNA Biol. 2016 08 02; 13(8):696-706.
Score: 0.047
-
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. BMC Med Genet. 2014 Jun 04; 15:64.
Score: 0.043
-
Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy. Transl Res. 2013 Dec; 162(6):353-63.
Score: 0.040
-
Dyskeratosis congenita as a disorder of telomere maintenance. Mutat Res. 2012 Feb 01; 730(1-2):43-51.
Score: 0.035
-
The genetics and clinical manifestations of telomere biology disorders. Genet Med. 2010 Dec; 12(12):753-64.
Score: 0.034
-
Ku's essential role in keeping telomeres intact. Proc Natl Acad Sci U S A. 2009 Jul 28; 106(30):12217-8.
Score: 0.031
-
Distinct faces of the Ku heterodimer mediate DNA repair and telomeric functions. Nat Struct Mol Biol. 2007 Apr; 14(4):301-7.
Score: 0.026
-
Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. Hum Mol Genet. 2005 Dec 01; 14(23):3723-40.
Score: 0.024
-
Novel SAMD9 Variant Causing MIRAGE Syndrome Treated with Subcutaneous Immunoglobulin. J Clin Immunol. 2024 09 30; 45(1):19.
Score: 0.022
-
The Ku heterodimer performs separable activities at double-strand breaks and chromosome termini. Mol Cell Biol. 2003 Nov; 23(22):8202-15.
Score: 0.021
-
Which end: dissecting Ku's function at telomeres and double-strand breaks. Genes Dev. 2003 Oct 01; 17(19):2347-50.
Score: 0.021
-
Editing TINF2 as a potential therapeutic approach to restore telomere length in dyskeratosis congenita. Blood. 2022 08 11; 140(6):608-618.
Score: 0.019
-
Expansion of the clinical phenotype of GALE deficiency. Am J Med Genet A. 2021 10; 185(10):3118-3121.
Score: 0.018
-
Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome. Nat Commun. 2021 02 26; 12(1):1334.
Score: 0.017
-
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: 0.017
-
Clinical and functional characterization of telomerase variants in patients with pediatric acute myeloid leukemia/myelodysplastic syndrome. Leukemia. 2021 01; 35(1):269-273.
Score: 0.016
-
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 03; 21(3):663-675.
Score: 0.015
-
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: 0.011
-
Regulation of Ku-DNA association by Yku70 C-terminal tail and SUMO modification. J Biol Chem. 2014 Apr 11; 289(15):10308-10317.
Score: 0.011
-
A role for heterochromatin protein 1? at human telomeres. Genes Dev. 2011 Sep 01; 25(17):1807-19.
Score: 0.009
-
The association of yKu with subtelomeric core X sequences prevents recombination involving telomeric sequences. Genetics. 2009 Oct; 183(2):453-67, 1SI-13SI.
Score: 0.008