RICHARD GIBBS to DNA-Binding Proteins
This is a "connection" page, showing publications RICHARD GIBBS has written about DNA-Binding Proteins.
Connection Strength
1.391
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The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A. 2018 06; 176(6):1315-1326.
Score: 0.331
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De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 May 01; 94(5):784-9.
Score: 0.251
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Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism. Hum Mutat. 2022 12; 43(12):2033-2053.
Score: 0.112
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Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. Hum Mutat. 2021 05; 42(5):577-591.
Score: 0.101
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Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat. 2017 10; 38(10):1365-1371.
Score: 0.078
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Ampullary Cancers Harbor ELF3 Tumor Suppressor Gene Mutations and Exhibit Frequent WNT Dysregulation. Cell Rep. 2016 Feb 02; 14(4):907-919.
Score: 0.071
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Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 06; 95(5):579-83.
Score: 0.065
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Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012 Apr 04; 485(7397):242-5.
Score: 0.054
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Low frequency of MLL3 mutations in colorectal carcinoma. Cancer Genet Cytogenet. 2009 Mar; 189(2):140-1.
Score: 0.044
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Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006 Feb; 78(2):303-14.
Score: 0.035
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The genomic landscape of familial glioma. Sci Adv. 2023 04 28; 9(17):eade2675.
Score: 0.029
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An ELF4 hypomorphic variant results in NK cell deficiency. JCI Insight. 2022 12 08; 7(23).
Score: 0.028
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The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation. Genome Med. 2022 10 27; 14(1):122.
Score: 0.028
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Clinical and molecular features of pediatric cancer patients with Lynch syndrome. Pediatr Blood Cancer. 2022 11; 69(11):e29859.
Score: 0.028
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Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. Am J Med Genet A. 2020 06; 182(6):1387-1399.
Score: 0.024
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Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease. J Clin Endocrinol Metab. 2019 08 01; 104(8):3049-3067.
Score: 0.023
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The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma. Cell Rep. 2018 04 03; 23(1):313-326.e5.
Score: 0.021
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.019
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Genomic analyses identify molecular subtypes of pancreatic cancer. Nature. 2016 Mar 03; 531(7592):47-52.
Score: 0.018
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Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia. PLoS One. 2014; 9(10):e110740.
Score: 0.016
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NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014 Feb 06; 94(2):303-9.
Score: 0.015