A. Brautbar

发表

Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multi-Center Pilot for Pre-Emptive Pharmacogenomics in Electronic Health Record Systems

Suzette J. Bielinski, Christopher G. Chute, Marylyn D. Ritchie, 2014, Clinical pharmacology and therapeutics.

Analysis of Multiple Association Studies Provides Evidence of an Expression QTL Hub in Gene-Gene Interaction Network Affecting HDL Cholesterol Levels

C. Ballantyne, A. Keinan, Li Ma, 2014, PloS one.

Gaucher disease in Arab patients at an Israeli referral clinic.

A. Brautbar, D. Elstein, A. Zimran, 2008, The Israel Medical Association journal : IMAJ.

Fibromyalgia and Gaucher's disease.

D. Buskila, A. Brautbar, D. Elstein, 2006, QJM : monthly journal of the Association of Physicians.

Chromosome 9p21 single nucleotide polymorphisms are not associated with recurrent myocardial infarction in patients with established coronary artery disease.

E. Boerwinkle, A. Morrison, C. Ballantyne, 2012, Circulation journal : official journal of the Japanese Circulation Society.

FBN1 mutations in patients with descending thoracic aortic dissections

J. Belmont, J. Coselli, S. Lemaire, 2010, American journal of medical genetics. Part A.

Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family.

B. Graham, P. Waters, L. Wong, 2009, Molecular genetics and metabolism.

Mutation update for the SATB2 gene

Donna M. Martin, Marc S. Williams, E. Roeder, 2019, Human mutation.

Differential Lipid Response to Statins Is Associated With Variants in the BUD13–APOA5 Gene Region

M. Brilliant, S. Schrodi, Z. Ye, 2015, Journal of cardiovascular pharmacology.

Genetics of Familial Hypercholesterolemia

S. Virani, R. Steiner, A. Brautbar, 2015, Current Atherosclerosis Reports.

Associations Between Lipoprotein(a) Levels and Cardiovascular Outcomes in African Americans and Caucasians: The Atherosclerosis Risk in Communities (ARIC) Study

E. Boerwinkle, A. Folsom, J. Coresh, 2011 .

Knowledge-Driven Analysis Identifies a Gene–Gene Interaction Affecting High-Density Lipoprotein Cholesterol Levels in Multi-Ethnic Populations

Andrew G. Clark, Eric Boerwinkle, Charles F. Sing, 2012, PLoS genetics.

Severe hypercholesterolemia and liver disease in a 3-year old.

A. Brautbar, D. Wilson, Amol M Patel, 2016, Journal of clinical lipidology.

A 3-Year-Old with Severe Hypercholesterolemia*

A. Brautbar, D. Wilson, Amol M Patel, 2015 .

Effect of enzyme replacement therapy on gammopathies in Gaucher disease.

A. Brautbar, D. Elstein, A. Zimran, 2004, Blood cells, molecules & diseases.

Rare LPL gene variants attenuate triglyceride reduction and HDL cholesterol increase in response to fenofibric acid therapy in individuals with mixed dyslipidemia.

F. Gao, C. Ballantyne, A. Keinan, 2014, Atherosclerosis.

Rare APOA5 promoter variants associated with paradoxical HDL cholesterol decrease in response to fenofibric acid therapy[S]

S. Scherer, J. Belmont, R. Hegele, 2013, Journal of Lipid Research.

Variants in the APOA5 gene region and the response to combination therapy with statins and fenofibric acid in a randomized clinical trial of individuals with mixed dyslipidemia.

S. Leal, J. Belmont, C. Ballantyne, 2011, Atherosclerosis.

Mutation update for the SATB 2 gene

Adeline, Marc S. Williams, E. Roeder, 2019 .

Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

P. Stankiewicz, K. Bowling, Yaping Yang, 2021, American journal of medical genetics. Part A.

Is this the Coffin–Siris syndrome or the BOD syndrome?

M. Shinawi, A. Brautbar, J. Ragsdale, 2009, American journal of medical genetics. Part A.

A novel mutation in the ABCA1 gene causing an atypical phenotype of Tangier disease.

C. Ballantyne, E. Schaefer, S. Virani, 2013, Journal of clinical lipidology.

Single nucleotide polymorphisms in cholesteryl ester transfer protein gene and recurrent coronary heart disease or mortality in patients with established atherosclerosis.

E. Boerwinkle, C. Ballantyne, S. Virani, 2013, The American journal of cardiology.

Associations Between Lipoprotein(a) Levels and Cardiovascular Outcomes in Black and White Subjects: The Atherosclerosis Risk in Communities (ARIC) Study

Eric Boerwinkle, Thomas H Mosley, Diane J Catellier, 2011, Circulation.

A genetic risk score based on direct associations with coronary heart disease improves coronary heart disease risk prediction in the Atherosclerosis Risk in Communities (ARIC), but not in the Rotterdam and Framingham Offspring, Studies.

A. Hofman, A. Uitterlinden, E. Boerwinkle, 2012, Atherosclerosis.

Menetrier's disease presenting as an acute protein-losing gastroenteropathy in a 27-year-old man with Gaucher disease

A. Brautbar, D. Elstein, A. Zimran, 2005, European journal of gastroenterology & hepatology.

Pharmacological strategies for lowering LDL cholesterol: statins and beyond

C. Ballantyne, A. Brautbar, 2011, Nature Reviews Cardiology.

Interaction between SNPs in the RXRA and near ANGPTL3 gene region inhibits apoB reduction after statin-fenofibric acid therapy in individuals with mixed dyslipidemia[S]

J. Belmont, C. Ballantyne, A. Keinan, 2012, Journal of Lipid Research.

Lifestyle Intervention for Weight Loss and Cardiometabolic Changes in the Setting of Glucokinase Regulatory Protein Inhibition: Glucokinase Regulatory Protein-Leu446Pro Variant in Look AHEAD

W. Knowler, C. Ballantyne, G. Papandonatos, 2015, Circulation. Cardiovascular genetics.

Association of Genome-Wide Variation With Highly Sensitive Cardiac Troponin-T Levels in European Americans and Blacks: A Meta-Analysis From Atherosclerosis Risk in Communities and Cardiovascular Health Studies

E. Boerwinkle, B. Psaty, S. Kathiresan, 2013, Circulation. Cardiovascular genetics.

Impact of Adding a Single Allele in the 9p21 Locus to Traditional Risk Factors on Reclassification of Coronary Heart Disease Risk and Implications for Lipid-Modifying Therapy in the Atherosclerosis Risk in Communities Study

E. Boerwinkle, A. Folsom, L. Chambless, 2009, Circulation. Cardiovascular genetics.

Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans

B. Solomon, M. McDonald, R. Schnur, 2021, Genetics in Medicine.

A common variant in the CLDN7/ELP5 locus predicts adiponectin change with lifestyle intervention and improved fitness in obese individuals with diabetes.

D. Bowden, C. Ballantyne, G. Papandonatos, 2015, Physiological genomics.

Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals

Jason H. Moore, Gerard Tromp, Marylyn D. Ritchie, 2017, BioData Mining.

Do Genetic Modifiers of High-Density Lipoprotein Cholesterol and Triglyceride Levels Also Modify Their Response to a Lifestyle Intervention in the Setting of Obesity and Type-2 Diabetes Mellitus?: The Action for Health in Diabetes (Look AHEAD) Study

R. Wing, W. Knowler, L. Wagenknecht, 2013, Circulation. Cardiovascular genetics.

Practical considerations in genomic decision support: The eMERGE experience

Keith Marsolo, Suzette J. Bielinski, Gerard Tromp, 2015, Journal of pathology informatics.

Screening for genetic mutations in children and adolescents with dyslipidemia: importance of early identification and implications of missed diagnoses

A. Brautbar, A. de la Torre, D. Wilson, 2016 .

Novel Biomarkers and the Assessment of Cardiovascular Risk

C. Ballantyne, Vijay Nambi, A. Brautbar, 2011 .

The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle.

B. Graham, J. Abdenur, L. Wong, 2008, Molecular genetics and metabolism.

Epidemiology and Prevention Associations Between Lipoprotein ( a ) Levels and Cardiovascular Outcomes in Black and White Subjects The Atherosclerosis Risk in Communities ( ARIC ) Study

E. Boerwinkle, A. Folsom, A. Sharrett, 2012 .

Necrotizing soft tissue infection: an unusual and devastating complication of pressure sores.

A. Brautbar, Yaacov Esayag, Y. Wiener‐Well, 2011, The Israel Medical Association journal : IMAJ.

The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation.

E. Beutler, A. Brautbar, D. Elstein, 2003, Blood cells, molecules & diseases.

LPL gene variants affect apoC-III response to combination therapy of statins and fenofibric acid in a randomized clinical trial of individuals with mixed dyslipidemia[S]

J. Belmont, C. Ballantyne, S. Virani, 2012, Journal of Lipid Research.

The Atherosclerosis Risk in Communities (ARIC) Study

Eric Boerwinkle, Bruce A. Wasserman, Patrick T. Bradshaw, 2011 .

Usefulness of single nucleotide polymorphism in chromosome 4q25 to predict in-hospital and long-term development of atrial fibrillation and survival in patients undergoing coronary artery bypass grafting.

E. Boerwinkle, C. Ballantyne, S. Virani, 2011, The American journal of cardiology.

The 9p21 genetic variant is additive to carotid intima media thickness and plaque in improving coronary heart disease risk prediction in white participants of the Atherosclerosis Risk in Communities (ARIC) Study.

E. Boerwinkle, A. Folsom, L. Chambless, 2010, Atherosclerosis.

Differential Lipid Response to Statins Is Associated With Variants in the BUD13–APOA5 Gene Region

M. Brilliant, S. Schrodi, S. Virani, 2015, Journal of cardiovascular pharmacology.

A conceptual model for translating omic data into clinical action

Suzette J. Bielinski, Gerard Tromp, Christopher G. Chute, 2015, Journal of pathology informatics.

Interaction between SNPs in the RXRA and near ANGPTL3 gene region inhibits apoB reduction after statin-fenofibric acid therapy in individuals with mixed dyslipidemia[S]

J. Belmont, C. Ballantyne, A. Keinan, 2012, Journal of Lipid Research.