Author details

Full Name

Ariel Brautbar

Affiliation

Cook Children's Hospital

ORCID

Career Start Year

2003

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
33846581	Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans.	Genet Med	2021
33522091	Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.	Am J Med Genet A	2021
31021519	Mutation update for the SATB2 gene.	Hum Mutat	2019
28770004	Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals.	BioData Min	2017
27206954	Severe hypercholesterolemia and liver disease in a 3-year old.	J Clin Lipidol	2016
26578543	Lifestyle Intervention for Weight Loss and Cardiometabolic Changes in the Setting of Glucokinase Regulatory Protein Inhibition: Glucokinase Regulatory Protein-Leu446Pro Variant in Look AHEAD.	Circ Cardiovasc Genet	2016
25759378	A common variant in the CLDN7/ELP5 locus predicts adiponectin change with lifestyle intervention and improved fitness in obese individuals with diabetes.	Physiol Genomics	2015
26430534	A conceptual model for translating omic data into clinical action.	J Pathol Inform	2015
26605115	Practical considerations in genomic decision support: The eMERGE experience.	J Pathol Inform	2015
25900265	Differential Lipid Response to Statins Is Associated With Variants in the BUD13-APOA5 Gene Region.	J Cardiovasc Pharmacol	2015
25712136	Genetics of familial hypercholesterolemia.	Curr Atheroscler Rep	2015
24651390	Analysis of multiple association studies provides evidence of an expression QTL hub in gene-gene interaction network affecting HDL cholesterol levels.	PLoS One	2014
24960519	Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems.	Clin Pharmacol Ther	2014
24704626	Rare LPL gene variants attenuate triglyceride reduction and HDL cholesterol increase in response to fenofibric acid therapy in individuals with mixed dyslipidemia.	Atherosclerosis	2014
23351586	A novel mutation in the ABCA1 gene causing an atypical phenotype of Tangier disease.	J Clin Lipidol	2013
23861364	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.	Circ Cardiovasc Genet	2013
23891427	Single nucleotide polymorphisms in cholesteryl ester transfer protein gene and recurrent coronary heart disease or mortality in patients with established atherosclerosis.	Am J Cardiol	2013
23633496	Rare APOA5 promoter variants associated with paradoxical HDL cholesterol decrease in response to fenofibric acid therapy.	J Lipid Res	2013
23247143	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.	Circ Cardiovasc Genet	2013
22128224	Associations between lipoprotein(a) levels and cardiovascular outcomes in black and white subjects: the Atherosclerosis Risk in Communities (ARIC) Study.	Circulation	2012
22789513	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.	Atherosclerosis	2012
22896670	Interaction between SNPs in the RXRA and near ANGPTL3 gene region inhibits apoB reduction after statin-fenofibric acid therapy in individuals with mixed dyslipidemia.	J Lipid Res	2012
22654671	Knowledge-driven analysis identifies a gene-gene interaction affecting high-density lipoprotein cholesterol levels in multi-ethnic populations.	PLoS Genet	2012
22236405	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.	J Lipid Res	2012
22322877	Chromosome 9p21 single nucleotide polymorphisms are not associated with recurrent myocardial infarction in patients with established coronary artery disease.	Circ J	2012
22349088	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.	Atherosclerosis	2012
21414601	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.	Am J Cardiol	2011
21838191	Necrotizing soft tissue infection: an unusual and devastating complication of pressure sores.	Isr Med Assoc J	2011
21889769	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.	Atherosclerosis	2011
21321561	Pharmacological strategies for lowering LDL cholesterol: statins and beyond.	Nat Rev Cardiol	2011
20082464	FBN1 mutations in patients with descending thoracic aortic dissections.	Am J Med Genet A	2010
19062322	Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family.	Mol Genet Metab	2009
20031596	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.	Circ Cardiovasc Genet	2009
19215055	Is this the Coffin-Siris syndrome or the BOD syndrome?	Am J Med Genet A	2009
18495510	The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle.	Mol Genet Metab	2008
18847161	Gaucher disease in Arab patients at an Israeli referral clinic.	Isr Med Assoc J	2008
16293672	Fibromyalgia and Gaucher's disease.	QJM	2006
15879733	Menetrier's disease presenting as an acute protein-losing gastroenteropathy in a 27-year-old man with Gaucher disease.	Eur J Gastroenterol Hepatol	2005
14757437	Effect of enzyme replacement therapy on gammopathies in Gaucher disease.	Blood Cells Mol Dis	2004
12972024	The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation.	Blood Cells Mol Dis	2003

1 - 40 of 40

Moneeza K Siddiqui

University of Dundee, Ninewells Hospital and Medical School

Career Start Year 2016

Number of shared co-authors 22

Jessica Minnier

Louis Stokes Cleveland VA Medical Center Cleveland

Career Start Year 2010

Number of shared co-authors 6

Leo-Pekka Lyytik??inen

Tampere University

Career Start Year 2009

Number of shared co-authors 32

Marguerite R Irvin

University of Alabama at Birmingham School of Public Health

Career Start Year 2009

Number of shared co-authors 41

John D Overton

Regeneron Pharmaceuticals

Career Start Year 2008

Number of shared co-authors 7

QiPing Feng

Vanderbilt University Medical Center

Career Start Year 2008

Number of shared co-authors 36

Adam S Butterworth

British Heart Foundation Cardiovascular Epidemiology Unit, University of Cambridge

Career Start Year 2006

Number of shared co-authors 31

Christian M Shaffer

Vanderbilt University

Career Start Year 2004

Number of shared co-authors 49

Martina M??ller-Nurasyid

Institute for Medical Information Processing

Career Start Year 2003

Number of shared co-authors 30

Svati H Shah

Duke Molecular Physiology Institute

Career Start Year 2002

Number of shared co-authors 31

Andrew D Johnson

and Blood Institute

Career Start Year 2001

Number of shared co-authors 43

Lucia A Hindorff

National Human Genome Research Institute, National Institutes of Health

Career Start Year 2001

Number of shared co-authors 54

Jeanette J McCarthy

Fabric Genomics Inc.

Career Start Year 2000

Number of shared co-authors 2

Toni I Pollin

University of Maryland School of Medicine

Career Start Year 1999

Number of shared co-authors 16

Scott M Damrauer

Perelman School of Medicine, University of Pennsylvania

Career Start Year 1999

Number of shared co-authors 30

Linnea M Baudhuin

Mayo Clinic

Career Start Year 1999

Number of shared co-authors 5

Lara M Mangravite

Children's Hospital Oakland Research Institute

Career Start Year 1998

Number of shared co-authors 2

Ulrich Broeckel

Medical College of Wisconsin

Career Start Year 1998

Number of shared co-authors 25

Joshua D Smith

University of Washington

Career Start Year 1998

Number of shared co-authors 25

John C Chambers

Lee Kong Chian School of Medicine, Nanyang Technological University

Career Start Year 1997

Number of shared co-authors 29

Jonathan D Mosley

Vanderbilt University Medical Center

Career Start Year 1995

Number of shared co-authors 43

Eric J G Sijbrands

Erasmus MC University Medical Center Rotterdam

Career Start Year 1994

Number of shared co-authors 15

Terho Lehtim??ki

Finnish Cardiovascular Research Center-Tampere - FCRCT, Tampere University

Career Start Year 1990

Number of shared co-authors 34

Carl D Langefeld

Wake Forest University School of Medicine

Career Start Year 1990

Number of shared co-authors 31

Russell A Wilke

University of South Dakota Sanford School of Medicine

Career Start Year 1989

Number of shared co-authors 38

Vincent Mooser

McGill University

Career Start Year 1987

Number of shared co-authors 19

Colin N A Palmer

Pat Macpherson Centre for Pharmacogenomics and Pharmacogenetics, University of Dundee

Career Start Year 1987

Number of shared co-authors 41

Daniel I Chasman

Harvard Medical School, Harvard University

Career Start Year 1987

Number of shared co-authors 43

Alan R Shuldiner

University of Maryland School of Medicine

Career Start Year 1985

Number of shared co-authors 42

John Beilby

University of Western Australia

Career Start Year 1980

Number of shared co-authors 17

row(s) 1 - 30 of 30

Christie M Ballantyne

Baylor College of Medicine

Co-authored papers 19

Salim S Virani

Baylor College of Medicine

Co-authored papers 13

Vijay Nambi

Baylor College of Medicine

Co-authored papers 9

Eric Boerwinkle

Baylor College of Medicine

Co-authored papers 9

John W Belmont

Baylor College of Medicine

Co-authored papers 5

Iftikhar J Kullo

Mayo Clinic

Co-authored papers 4

Aaron R Folsom

Co-authored papers 4

Murray H Brilliant

Marshfield Clinic Research Institute

Co-authored papers 4

Simon Lin

The Research Institute at Nationwide Children's Hospital

Co-authored papers 3

Marc S Williams

University of Washington Medical Center

Co-authored papers 3

Erwin P Bottinger

Hasso Plattner Institute for Digital Health at Mount Sinai

Co-authored papers 3

Gerard Tromp

Biomedical Research Institute, Stellenbosch University.

Co-authored papers 3

Jyotishman Pathak

Cornell University

Co-authored papers 3

Suzette J Bielinski

Mayo Clinic

Co-authored papers 3

Christopher G Chute

Brown University, Brown University Warren Alpert Medical School, Dartmouth-Hitchcock Medical Center, Harvard School of Public Health, Johns Hopkins Medicine, Mayo Clinic Minnesota

Co-authored papers 3

Joshua C Denny

Vanderbilt University

Co-authored papers 3

Luke V Rasmussen

Northwestern University Feinberg School of Medicine

Co-authored papers 3

Dan M Roden

Vanderbilt University Medical Center

Co-authored papers 3

James D Ralston

University of Washington.