ERIC BOERWINKLE to Mutation
This is a "connection" page, showing publications ERIC BOERWINKLE has written about Mutation.
Connection Strength
1.657
-
Linkage disequilibrium structure and its impact on the localization of a candidate functional mutation. Genet Epidemiol. 2001; 21 Suppl 1:S620-5.
Score: 0.063
-
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: 0.056
-
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: 0.053
-
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. Am J Hum Genet. 2018 08 02; 103(2):171-187.
Score: 0.053
-
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: 0.051
-
Whole exome sequencing in the Framingham Heart Study identifies rare variation in HYAL2 that influences platelet aggregation. Thromb Haemost. 2017 06 02; 117(6):1083-1092.
Score: 0.048
-
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 Oct 06; 99(4):831-845.
Score: 0.047
-
Loss-of-function variants influence the human serum metabolome. Sci Adv. 2016 08; 2(8):e1600800.
Score: 0.047
-
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol. 2016 07 01; 73(7):836-845.
Score: 0.046
-
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016 Feb 18; 7:10713.
Score: 0.045
-
POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 Jan 06; 8(1):3.
Score: 0.044
-
Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. J Clin Endocrinol Metab. 2015 May; 100(5):E808-14.
Score: 0.042
-
New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. JAMA Ophthalmol. 2015 Feb; 133(2):133-9.
Score: 0.042
-
Coronary heart disease and genetic variants with low phospholipase A2 activity. N Engl J Med. 2015 Jan 15; 372(3):295-6.
Score: 0.042
-
Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine: Levels and Incident Coronary Heart Disease. Circ Cardiovasc Genet. 2015 Apr; 8(2):351-5.
Score: 0.041
-
Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med. 2014 Nov 27; 371(22):2072-82.
Score: 0.041
-
A framework for the interpretation of de novo mutation in human disease. Nat Genet. 2014 Sep; 46(9):944-50.
Score: 0.040
-
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: 0.040
-
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med. 2014 Jul 03; 371(1):22-31.
Score: 0.040
-
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: 0.040
-
Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol. 2013 Dec; 70(12):1491-8.
Score: 0.038
-
VNTR allele frequency distributions under the stepwise mutation model: a computer simulation approach. Genetics. 1993 Jul; 134(3):983-93.
Score: 0.037
-
Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes. J Thromb Haemost. 2013 Feb; 11(2):261-9.
Score: 0.036
-
Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012 Apr 04; 485(7397):242-5.
Score: 0.034
-
Estimating population genetic parameters and comparing model goodness-of-fit using DNA sequences with error. Genome Res. 2010 Jan; 20(1):101-9.
Score: 0.029
-
Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry. Nat Genet. 2009 Aug; 41(8):879-81.
Score: 0.028
-
Defects in the low density lipoprotein receptor gene affect lipoprotein (a) levels: multiplicative interaction of two gene loci associated with premature atherosclerosis. Proc Natl Acad Sci U S A. 1989 Jun; 86(11):4171-4.
Score: 0.028
-
Inferring population mutation rate and sequencing error rate using the SNP frequency spectrum in a sample of DNA sequences. Mol Biol Evol. 2009 Jul; 26(7):1479-90.
Score: 0.028
-
Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans. J Clin Invest. 2009 Jan; 119(1):70-9.
Score: 0.027
-
Variation in ANGPTL4 and risk of coronary heart disease: the Atherosclerosis Risk in Communities Study. Metabolism. 2008 Nov; 57(11):1591-6.
Score: 0.027
-
Co-occurring clonal hematopoiesis exhibits strong selection and high leukemia risk. Nat Commun. 2026 May 21; 17(1).
Score: 0.023
-
Detection of Cancers Three Years prior to Diagnosis Using Plasma Cell-Free DNA. Cancer Discov. 2025 Sep 04; 15(9):1794-1802.
Score: 0.022
-
Determinants of mosaic chromosomal alteration fitness. Nat Commun. 2024 May 07; 15(1):3800.
Score: 0.020
-
Clonal hematopoiesis of indeterminate potential is associated with acute kidney injury. Nat Med. 2024 03; 30(3):810-817.
Score: 0.020
-
Investigating single nucleotide polymorphism (SNP) density in the human genome and its implications for molecular evolution. Gene. 2003 Jul 17; 312:207-13.
Score: 0.019
-
The genetic determinants of recurrent somatic mutations in 43,693 blood genomes. Sci Adv. 2023 04 28; 9(17):eabm4945.
Score: 0.018
-
Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis. Nature. 2023 Apr; 616(7958):755-763.
Score: 0.018
-
Beta 2 adrenergic receptor 5' haplotypes influence promoter activity. Br J Pharmacol. 2002 Dec; 137(8):1213-6.
Score: 0.018
-
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals. Nat Genet. 2020 12; 52(12):1314-1332.
Score: 0.016
-
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: 0.015
-
Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects. Brain. 2019 04 01; 142(4):1009-1023.
Score: 0.014
-
HFE H63D Polymorphism and the Risk for Systemic Hypertension, Myocardial Remodeling, and Adverse Cardiovascular Events in the ARIC Study. Hypertension. 2019 01; 73(1):68-74.
Score: 0.014
-
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. Hum Mol Genet. 2018 06 15; 27(12):2064-2075.
Score: 0.013
-
Molecular and genetic approaches to the study of cardiovascular disease. J Cardiovasc Risk. 1997 Oct-Dec; 4(5-6):325-31.
Score: 0.013
-
Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel ?-subunit in a case of early-onset phenotype of Liddle syndrome. Cold Spring Harb Mol Case Stud. 2016 11; 2(6):a001255.
Score: 0.012
-
Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease. PLoS Genet. 2016 Oct; 12(10):e1006327.
Score: 0.012
-
PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies. Pediatr Neurol. 2016 07; 60:83-7.
Score: 0.011
-
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: 0.011
-
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Rep. 2015 Aug 18; 12(7):1169-83.
Score: 0.011
-
Lipoprotein associated phospholipase A2 activity, apolipoprotein C3 loss-of-function variants and cardiovascular disease: The Atherosclerosis Risk In Communities Study. Atherosclerosis. 2015 Aug; 241(2):641-8.
Score: 0.011
-
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature. 2015 Feb 05; 518(7537):102-6.
Score: 0.010
-
Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9.
Score: 0.010
-
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: 0.010
-
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: 0.010
-
Apolipoprotein(a) gene accounts for greater than 90% of the variation in plasma lipoprotein(a) concentrations. J Clin Invest. 1992 Jul; 90(1):52-60.
Score: 0.009
-
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: 0.008
-
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Hum Mol Genet. 2011 Sep 01; 20(17):3366-75.
Score: 0.008
-
Population genetics of hypervariable loci: analysis of PCR based VNTR polymorphism within a population. EXS. 1991; 58:127-43.
Score: 0.008
-
Longitudinal association of PCSK9 sequence variations with low-density lipoprotein cholesterol levels: the Coronary Artery Risk Development in Young Adults Study. Circ Cardiovasc Genet. 2009 Aug; 2(4):354-61.
Score: 0.007
-
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. Am J Hum Genet. 2009 May; 84(5):617-27.
Score: 0.007
-
HFE C282Y homozygotes have reduced low-density lipoprotein cholesterol: the Atherosclerosis Risk in Communities (ARIC) Study. Transl Res. 2008 Jul; 152(1):3-10.
Score: 0.007
-
Genetic architecture of inter-individual variability in apolipoprotein, lipoprotein and lipid phenotypes. Ciba Found Symp. 1987; 130:99-127.
Score: 0.006
-
Influence of the beta2-adrenergic receptor Arg16Gly polymorphism on longitudinal changes in obesity from childhood through young adulthood in a biracial cohort: the Bogalusa Heart Study. Int J Obes Relat Metab Disord. 2002 Jul; 26(7):928-37.
Score: 0.004
-
Recombinational and mutational hotspots within the human lipoprotein lipase gene. Am J Hum Genet. 2000 Jan; 66(1):69-83.
Score: 0.004
-
Genetic variant showing a positive interaction with beta-blocking agents with a beneficial influence on lipoprotein lipase activity, HDL cholesterol, and triglyceride levels in coronary artery disease patients. The Ser447-stop substitution in the lipoprotein lipase gene. REGRESS Study Group. Circulation. 1997 Jun 17; 95(12):2628-35.
Score: 0.003
-
Two distinct truncated apolipoprotein B species in a kindred with hypobetalipoproteinemia. Arteriosclerosis. 1989 Nov-Dec; 9(6):856-68.
Score: 0.002