Steven Keiles to Humans
This is a "connection" page, showing publications Steven Keiles has written about Humans.
Connection Strength
0.260
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Impact of IVS8-(TG)m(T)n on IRT and sweat chloride levels in newborns identified by California CF newborn screening. J Cyst Fibros. 2012 May; 11(3):257-60.
Score: 0.038
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Report of two patients with associated conditions in addition to cystic fibrosis. J Cyst Fibros. 2010 Jul; 9(4):269-71.
Score: 0.034
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Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis. Pancreas. 2006 Oct; 33(3):221-7.
Score: 0.026
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Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens--implications for newborn screening. Genet Med. 2006 Sep; 8(9):557-62.
Score: 0.026
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A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders. Hum Mutat. 2016 Jan; 37(1):127-34.
Score: 0.012
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Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. Hum Mutat. 2015 Dec; 36(12):1113-27.
Score: 0.012
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The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities. Prenat Diagn. 2014 Dec; 34(12):1161-7.
Score: 0.011
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The validation and clinical implementation of BRCAplus: a comprehensive high-risk breast cancer diagnostic assay. PLoS One. 2014; 9(5):e97408.
Score: 0.011
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Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. Genet Med. 2014 Nov; 16(11):830-7.
Score: 0.011
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Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2014 Feb; 23(1):5-15.
Score: 0.011
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The silent codon change I507-ATC->ATT contributes to the severity of the ?F508 CFTR channel dysfunction. FASEB J. 2013 Nov; 27(11):4630-45.
Score: 0.011
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Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California. J Mol Diagn. 2013 Sep; 15(5):710-22.
Score: 0.010
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Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk. Gut. 2013 Nov; 62(11):1616-24.
Score: 0.010
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Functional analysis of eight missense mutations in the SPINK1 gene. Pancreas. 2012 Mar; 41(2):329-30.
Score: 0.010
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Carrier testing for spinal muscular atrophy. Genet Med. 2010 Oct; 12(10):621-2.
Score: 0.009
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The role of the F508C mutation in congenital bilateral absence of the vas deferens. Genet Med. 2008 Dec; 10(12):910-4.
Score: 0.008
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Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum. J Mol Diagn. 2005 May; 7(2):289-99.
Score: 0.006
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Improved detection of cystic fibrosis mutations in infertility patients with DNA sequence analysis. Hum Reprod. 2004 Mar; 19(3):540-6.
Score: 0.005