ERIC BOERWINKLE to Pedigree
This is a "connection" page, showing publications ERIC BOERWINKLE has written about Pedigree.
Connection Strength
1.190
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Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics. 2016 07 19; 9(1):42.
Score: 0.104
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Essential hypertension vs. secondary hypertension among children. Am J Hypertens. 2015 Jan; 28(1):73-80.
Score: 0.089
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Combined genealogical, mapping, and expression approaches to identify spontaneously hypertensive rat hypertension candidate genes. Hypertension. 2005 Apr; 45(4):698-704.
Score: 0.047
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Power of a simplified multivariate test for genetic linkage. Ann Hum Genet. 2002 Nov; 66(Pt 5-6):407-17.
Score: 0.040
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Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Ann Clin Transl Neurol. 2020 05; 7(5):610-627.
Score: 0.034
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A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 11 07; 105(5):974-986.
Score: 0.033
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The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. Am J Hum Genet. 2019 07 03; 105(1):132-150.
Score: 0.032
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Heritability analysis of nontraditional glycemic biomarkers in the Atherosclerosis Risk in Communities Study. Genet Epidemiol. 2019 10; 43(7):776-785.
Score: 0.032
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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: 0.031
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Linkage and association of adrenergic and dopamine receptor genes in the distal portion of the long arm of chromosome 5 with systolic blood pressure variation. Hum Mol Genet. 1998 Sep; 7(9):1379-83.
Score: 0.030
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Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. Hum Genet. 2018 Sep; 137(9):689-703.
Score: 0.030
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Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. PLoS One. 2018; 13(6):e0198166.
Score: 0.030
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A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. Am J Med Genet A. 2018 04; 176(4):1015-1022.
Score: 0.029
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Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis. J Dent Res. 2018 Jan; 97(1):49-59.
Score: 0.028
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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: 0.027
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MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med. 2016 11 01; 8(1):106.
Score: 0.027
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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: 0.025
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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: 0.025
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Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron. 2015 Nov 04; 88(3):499-513.
Score: 0.025
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Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Rep. 2015 Aug 18; 12(7):1169-83.
Score: 0.024
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Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction. Circ Cardiovasc Genet. 2015 Aug; 8(4):544-52.
Score: 0.024
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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: 0.024
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FBN1 contributing to familial congenital diaphragmatic hernia. Am J Med Genet A. 2015 Apr; 167A(4):831-6.
Score: 0.024
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New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. JAMA Ophthalmol. 2015 Feb; 133(2):133-9.
Score: 0.023
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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: 0.023
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PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am J Hum Genet. 2014 Jul 03; 95(1):96-107.
Score: 0.022
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New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. Hum Mol Genet. 2014 Nov 01; 23(21):5774-80.
Score: 0.022
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Length and sequence variation in the apolipoprotein B intron 20 Alu repeat. Genomics. 1992 Oct; 14(2):449-54.
Score: 0.020
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Ultraconserved elements in the human genome: association and transmission analyses of highly constrained single-nucleotide polymorphisms. Genetics. 2012 Sep; 192(1):253-66.
Score: 0.020
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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: 0.019
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Clan genomics and the complex architecture of human disease. Cell. 2011 Sep 30; 147(1):32-43.
Score: 0.019
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The landscape of recombination in African Americans. Nature. 2011 Jul 20; 476(7359):170-5.
Score: 0.018
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Heritability and genetic linkage of left ventricular mass, systolic and diastolic function in hypertensive African Americans (From the GENOA Study). Am J Hypertens. 2010 Aug; 23(8):870-5.
Score: 0.017
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Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts. Circ Cardiovasc Genet. 2009 Apr; 2(2):125-33.
Score: 0.016
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Genome-wide linkage analysis for uric acid in families enriched for hypertension. Nephrol Dial Transplant. 2009 Aug; 24(8):2414-20.
Score: 0.016
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Genome-wide identification of allelic expression in hypertensive rats. Circ Cardiovasc Genet. 2009 Apr; 2(2):106-15.
Score: 0.016
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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: 0.015
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Regional association-based fine-mapping for sodium-lithium countertransport on chromosome 10. Am J Hypertens. 2008 Jan; 21(1):117-21.
Score: 0.014
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The use of measured genotype information in the analysis of quantitative phenotypes in man. I. Models and analytical methods. Ann Hum Genet. 1986 05; 50(2):181-94.
Score: 0.013
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An updated meta-analysis of genome scans for hypertension and blood pressure in the NHLBI Family Blood Pressure Program (FBPP). Am J Hypertens. 2006 Jan; 19(1):122-7.
Score: 0.013
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Diagnostic tools in linkage analysis for quantitative traits. Genet Epidemiol. 2003 May; 24(4):302-8.
Score: 0.010
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Genome-wide linkage analysis reveals evidence of multiple regions that influence variation in plasma lipid and apolipoprotein levels associated with risk of coronary heart disease. Arterioscler Thromb Vasc Biol. 2001 Jun; 21(6):971-8.
Score: 0.009
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Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14. Circulation. 2001 May 22; 103(20):2461-8.
Score: 0.009
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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: 0.008
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Linkage analysis of candidate obesity genes among the Mexican-American population of Starr County, Texas. Genet Epidemiol. 1999; 16(4):397-411.
Score: 0.008
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The GENNID Study. A resource for mapping the genes that cause NIDDM. Diabetes Care. 1996 Aug; 19(8):864-72.
Score: 0.007
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Anticipation in myotonic dystrophy. I. Statistical verification based on clinical and haplotype findings. Neurology. 1992 Oct; 42(10):1871-7.
Score: 0.005
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Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings and structure of the GCT repeat. Neurology. 1992 Oct; 42(10):1877-83.
Score: 0.005
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Two distinct truncated apolipoprotein B species in a kindred with hypobetalipoproteinemia. Arteriosclerosis. 1989 Nov-Dec; 9(6):856-68.
Score: 0.004
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Linkage of the Wilson disease gene to chromosome 13 in North-American pedigrees. Am J Hum Genet. 1988 Jun; 42(6):825-9.
Score: 0.004
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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: 0.003