ERIC BOERWINKLE to Genetic Diseases, Inborn
This is a "connection" page, showing publications ERIC BOERWINKLE has written about Genetic Diseases, Inborn.
Connection Strength
0.857
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A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 11 07; 105(5):974-986.
Score: 0.112
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Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 04; 21(4):798-812.
Score: 0.107
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.094
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Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 2017 02 28; 45(4):1633-1648.
Score: 0.093
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 01 05; 376(1):21-31.
Score: 0.092
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Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 07; 18(7):678-85.
Score: 0.086
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The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet. 2015 Aug 06; 97(2):199-215.
Score: 0.083
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Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9.
Score: 0.080
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The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A. 2012 Jul; 158A(7):1523-5.
Score: 0.067
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Generalized T2 test for genome association studies. Am J Hum Genet. 2002 May; 70(5):1257-68.
Score: 0.033
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Strategies for elucidating the phenotypic and genetic heterogeneity of a chronic disease with a complex etiology. Prog Clin Biol Res. 1985; 194:39-66.
Score: 0.010