ERIC BOERWINKLE to Molecular Sequence Data
This is a "connection" page, showing publications ERIC BOERWINKLE has written about Molecular Sequence Data.
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0.489
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Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Am J Hum Genet. 2016 Mar 03; 98(3):562-570.
Score: 0.021
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Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 Feb 04; 98(2):347-57.
Score: 0.021
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Nucleotide sequence analysis of the apolipoprotein B 3' VNTR. Hum Mol Genet. 1995 May; 4(5):937-44.
Score: 0.020
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COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet. 2015 Jun; 47(6):654-60.
Score: 0.020
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No association of apolipoprotein A-IV codon 347 and 360 variation with atherosclerosis and lipid transport in a sample of mixed hyperlipidemics. Genet Epidemiol. 1995; 12(4):371-80.
Score: 0.020
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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: 0.019
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Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. Am J Med Genet A. 2014 Sep; 164A(9):2328-34.
Score: 0.019
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The effect of variation in the apolipoprotein B gene on plasmid lipid and apolipoprotein B levels. I. A likelihood-based approach to cladistic analysis. Ann Hum Genet. 1994 01; 58(1):35-64.
Score: 0.018
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Neutral genomic regions refine models of recent rapid human population growth. Proc Natl Acad Sci U S A. 2014 Jan 14; 111(2):757-62.
Score: 0.018
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Exon sequencing of PAX3 and T (brachyury) in cases with spina bifida. Birth Defects Res A Clin Mol Teratol. 2013 Sep; 97(9):597-601.
Score: 0.018
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Atypical angiopoietin-like protein that regulates ANGPTL3. Proc Natl Acad Sci U S A. 2012 Nov 27; 109(48):19751-6.
Score: 0.017
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Length and sequence variation in the apolipoprotein B intron 20 Alu repeat. Genomics. 1992 Oct; 14(2):449-54.
Score: 0.017
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Structure, function, molecular genetics, and epidemiology of apolipoprotein B. Semin Liver Dis. 1992 Aug; 12(3):311-20.
Score: 0.017
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Allele frequency distribution of the (TG)n(AG)m microsatellite in the apolipoprotein C-II gene. Genomics. 1992 Jan; 12(1):63-8.
Score: 0.016
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Role of apolipoprotein E and B gene variation in determining response of lipid, lipoprotein, and apolipoprotein levels to increased dietary cholesterol. Am J Hum Genet. 1991 Dec; 49(6):1145-54.
Score: 0.016
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Signal peptide-length variation in human apolipoprotein B gene. Molecular characteristics and association with plasma glucose levels. Diabetes. 1991 Nov; 40(11):1539-44.
Score: 0.016
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The landscape of recombination in African Americans. Nature. 2011 Jul 20; 476(7359):170-5.
Score: 0.015
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High-resolution identity by descent mapping uncovers the genetic basis for blood pressure differences between spontaneously hypertensive rat lines. Circ Cardiovasc Genet. 2011 Jun; 4(3):223-31.
Score: 0.015
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Genetic determinants of plasma von Willebrand factor antigen levels: a target gene SNP and haplotype analysis of ARIC cohort. Blood. 2011 May 12; 117(19):5224-30.
Score: 0.015
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A unique length polymorphism in the signal peptide region of the apolipoprotein B gene in Mexican-Americans. Nucleic Acids Res. 1990 Dec 11; 18(23):7193.
Score: 0.015
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Two polymorphisms for amino acid substitutions in the APOA4 gene. Nucleic Acids Res. 1990 Aug 25; 18(16):4966.
Score: 0.015
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Rapid typing of apolipoprotein B DNA polymorphisms by DNA amplification. Association between Ag epitopes of human apolipoprotein B-100, a signal peptide insertion/deletion polymorphism, and a 3'flanking DNA variable number of tandem repeats polymorphism of the apolipoprotein B gene. Atherosclerosis. 1990 Apr; 81(3):225-32.
Score: 0.014
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An insertion deletion polymorphism in the signal peptide of the human apolipoprotein B gene. Hum Genet. 1990 Mar; 84(4):373-5.
Score: 0.014
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Identification of a urate transporter, ABCG2, with a common functional polymorphism causing gout. Proc Natl Acad Sci U S A. 2009 Jun 23; 106(25):10338-42.
Score: 0.013
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Rapid typing of tandemly repeated hypervariable loci by the polymerase chain reaction: application to the apolipoprotein B 3' hypervariable region. Proc Natl Acad Sci U S A. 1989 Jan; 86(1):212-6.
Score: 0.013
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Corticotropin releasing hormone (CRH) gene variation: comprehensive resequencing for variant and molecular haplotype discovery in monosomic hybrid cell lines. DNA Seq. 2007 Dec; 18(6):434-44.
Score: 0.012
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High-throughput multiplex SNP genotyping with MALDI-TOF mass spectrometry: practice, problems and promise. Hum Mutat. 2001 Apr; 17(4):296-304.
Score: 0.008
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Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nat Genet. 2000 Oct; 26(2):163-75.
Score: 0.007
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Sequence diversity and large-scale typing of SNPs in the human apolipoprotein E gene. Genome Res. 2000 Oct; 10(10):1532-45.
Score: 0.007
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Sequence variation within the neuropeptide Y gene and obesity in Mexican Americans. Obes Res. 2000 May; 8(3):219-26.
Score: 0.007
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Recombinational and mutational hotspots within the human lipoprotein lipase gene. Am J Hum Genet. 2000 Jan; 66(1):69-83.
Score: 0.007
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DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene. Nat Genet. 1998 Jul; 19(3):233-40.
Score: 0.006
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Sequence polymorphisms in the apo(a) gene associated with specific levels of Lp(a) in plasma. Hum Mol Genet. 1995 Feb; 4(2):173-81.
Score: 0.005
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Molecular basis of apolipoprotein (a) isoform size heterogeneity as revealed by pulsed-field gel electrophoresis. J Clin Invest. 1991 Jun; 87(6):2153-61.
Score: 0.004
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Study of the sequence tagged site (STS) in the beginning of human apo A4 gene region. Nucleic Acids Res. 1990 Sep 25; 18(18):5576.
Score: 0.004