JoVE Search Results: Rare Disease

Impact
Papers
Jobs
Conferences

Name	Impact ?	Papers	Institution	Country	Funding
Shendure, Jay	240.1	3	HudsonAlpha Institute for Biotechnology	USA	$49,366,279.00
van Heel, David A	216.2	2	Queen Mary University of London	UK	-
Goldstein, David B	205	4	Duke University School of Medicine	USA	$19,175,293.00
Zeggini, Eleftheria	183.4	9	Wellcome Trust Sanger Institute	UK	-
Abecasis, Gonçalo R	181.4	3	Massachusetts General Hospital	USA	-
Daly, Mark J	176.9	2	Massachusetts General Hospital	USA	$18,417,043.00
Schork, Nicholas J	164.6	2	The Scripps Translational Science Institute	USA	-
Hegele, Robert A	154.3	2	University of Western Ontario	Canada	$15,000.00
Gibson, Greg	149.7	2	Georgia Institute of Technology	USA	-
McVean, Gil	142.1	1	University of Oxford	UK	-
Raychaudhuri, Soumya	137.7	2	Harvard Medical School	USA	$2,463,362.00
Xiong, Momiao	136.4	8	University of New Mexico	USA	$2,549,614.00
Gibbs, Richard A	129.6	1	Baylor College of Medicine	USA	$186,890,301.00
Lin, Xihong	111.3	5	Harvard School of Public Health	USA	$10,520,841.00
Altshuler, David	106.6	1	Massachusetts General Hospital	USA	$67,385,544.00
Georges, Michel	106.6	1	University of Liège (B34)	Belgium	-
Leal, Suzanne M	100.4	6	Baylor College of Medicine	USA	-
Bigham, Abigail W	93.6	1	University of Washington	USA	-
Mooser, Vincent	93.6	1	Department of Quantitative Sciences, GlaxoSmithKline (GSK), Research Triangle Park, NC 27709	USA	-
Stefansson, Kari	88.8	2	deCODE genetics, Reykjavik	Iceland	$8,000,152.00
Lange, Christoph	73.9	4	University of Bonn	Germany	$4,080,318.00
Visscher, Peter M	71.8	2	National Human Genome Research Institute	USA	-
Almarri, Mohamed A	71.1	1	Wellcome Trust Sanger Institute	UK	-
Price, Alkes L	71.1	1	Harvard School of Public Health	USA	$2,277,764.00
Carvajal-Carmona, Luis G	64.7	2	Universidad del Tolima	Colombia	-
Tyler-Smith, Chris	62.4	1	Wellcome Trust Sanger Institute	UK	-
Reese, Martin G	54.4	1	University of Utah and School of Medicine	USA	$4,708,557.00
Ioannidis, John P A	53.3	3	University of Ioannina Medical School	Greece	-
Li, Mingyao	52.7	2	University of North Carolina at Chapel Hill	USA	$4,402,852.00
Nicolae, Dan L	49.2	2	The University of Chicago	USA	-
Pedersen, Oluf	48.4	2	University of California	USA	-
Zhang, Shuanglin	44.2	4	Michigan Technological University	USA	-
Seidman, Christine	42.4	1	Harvard Medical School	USA	$10,182,335.00
Sunyaev, Shamil R	42.4	1	Harvard School of Public Health	USA	-
Dunlop, Malcolm G	41.3	2	University of Oxford	UK	-
Witte, John S	41	3	University of California San Francisco	USA	$10,883,995.00
Hakonarson, Hakon	40.8	2	Children's Hospital of Philadelphia	USA	$21,698,601.00
Chatterjee, Nilanjan	39	2	National Cancer Institute	USA	$19,801,232.00
Tobin, Martin D	38.3	1	University of Leicester	UK	-
Lathrop, Mark	38.1	1	Chinese Academy of Sciences	China	-
Pillai, Shiv	36.3	1	Harvard Medical School	USA	$8,141,878.00
Yu, Fuli	36.1	1	Boston College	USA	-
	35.5	1		N/A	-
Plenge, Robert M	35.5	1	Brigham and Women's Hospital	USA	$7,967,753.00
Speliotes, Elizabeth K	35.5	1	Genetic Investigation of ANthropometric Traits Consortium.	N/A	$917,351.00
Spritz, Richard A	35.5	1	University of Colorado School of Medicine	USA	$4,602,202.00
Tomlinson, Ian P M	35.5	1	Institute of Cancer Research	UK	-
Zhang, Xuejun	35.5	1	Anhui Medical University	China	-
Li, Jun	33.3	3	University of Alabama at Birmingham	USA	$14,654,803.00
Bertram, L	33.2	1	Massachusetts General Hospital	USA	-

Name	Institution	Date	Impact	Publication
Stefansson, Kari	deCODE Genetics, Reykjavik	11/14/2012	53.29	The New England journal of medicine Variant of TREM2 associated with the risk of Alzheimer's disease. Abstract
Tobin, Martin D	University of Leicester	06/15/2009	38.27	Lancet Genomic copy number variation, human health, and disease. Abstract
Ioannidis, John P A	University of Ioannina Medical School	05/09/2013	38.07	Nature reviews. Genetics Meta-analysis methods for genome-wide association studies and beyond. Abstract
Gibson, Greg	Georgia Institute of Technology	01/18/2012	38.07	Nature reviews. Genetics Rare and common variants: twenty arguments. Abstract
Shendure, Jay	HudsonAlpha Institute for Biotechnology	08/18/2011	38.07	Nature reviews. Genetics Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Abstract
Lathrop, Mark	Chinese Academy of Sciences	06/01/2011	38.07	Nature reviews. Genetics Family-based designs for genome-wide association studies. Abstract
Schork, Nicholas J	The Scripps Translational Science Institute	10/13/2010	38.07	Nature reviews. Genetics Statistical analysis strategies for association studies involving rare variants. Abstract
Goldstein, David B	Duke University School of Medicine	05/18/2010	38.07	Nature reviews. Genetics Uncovering the roles of rare variants in common disease through whole-genome sequencing. Abstract
Dunlop, Malcolm G	University of Oxford	02/11/2010	38.07	Nature reviews. Genetics New insights into the aetiology of colorectal cancer from genome-wide association studies. Abstract
van Heel, David A	Queen Mary University of London	05/22/2013	36.28	Nature Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Abstract
Pillai, Shiv	Harvard Medical School	06/16/2010	36.28	Nature Functionally defective germline variants of sialic acid acetylesterase in autoimmunity. Abstract
Visscher, Peter M	National Human Genome Research Institute	10/08/2009	36.28	Nature Finding the missing heritability of complex diseases. Abstract
Shendure, Jay	HudsonAlpha Institute for Biotechnology	08/16/2009	36.28	Nature Targeted capture and massively parallel sequencing of 12 human exomes. Abstract
Abecasis, Gonçalo R	Massachusetts General Hospital	12/15/2013	35.53	Nature genetics Meta-analysis of gene-level tests for rare variant association. Abstract
Zhang, Xuejun	Anhui Medical University	11/10/2013	35.53	Nature genetics A large-scale screen for coding variants predisposing to psoriasis. Abstract
Altshuler, David	Massachusetts General Hospital	10/06/2013	35.53	Nature genetics Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Abstract
Stefansson, Kari	deCODE genetics, Reykjavik	10/28/2012	35.53	Nature genetics A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer. Abstract
Almarri, Mohamed A	Wellcome Trust Sanger Institute	09/09/2012	35.53	Nature genetics Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. Abstract
Price, Alkes L	Harvard School of Public Health	05/20/2012	35.53	Nature genetics Extremely low-coverage sequencing and imputation increases power for genome-wide association studies. Abstract
Plenge, Robert M	Brigham and Women's Hospital	03/25/2012	35.53	Nature genetics Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis. Abstract
McVean, Gil	University of Oxford	02/05/2012	35.53	Nature genetics Differential confounding of rare and common variants in spatially structured populations. Abstract
van Heel, David A	University Medical Center and University of Groningen	11/06/2011	35.53	Nature genetics Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. Abstract
Daly, Mark J	Massachusetts General Hospital	10/09/2011	35.53	Nature genetics Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Abstract
Georges, Michel	University of Liège (B34)	12/12/2010	35.53	Nature genetics Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease. Abstract
Tomlinson, Ian P M	Institute of Cancer Research	10/24/2010	35.53	Nature genetics Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. Abstract
Hegele, Robert A	University of Western Ontario	07/25/2010	35.53	Nature genetics Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia. Abstract
		06/28/2010	35.53	Nature genetics On beyond GWAS. Abstract
Gibson, Greg	Georgia Institute of Technology	06/28/2010	35.53	Nature genetics Hints of hidden heritability in GWAS. Abstract
Chatterjee, Nilanjan	National Institutes of Health	06/20/2010	35.53	Nature genetics Estimation of effect size distribution from genome-wide association studies and implications for future discoveries. Abstract
Visscher, Peter M	Queensland Institute of Medical Research	06/20/2010	35.53	Nature genetics Common SNPs explain a large proportion of the heritability for human height. Abstract
Spritz, Richard A	University of Colorado School of Medicine	06/06/2010	35.53	Nature genetics Common variants in FOXP1 are associated with generalized vitiligo. Abstract
Speliotes, Elizabeth K	Genetic Investigation of ANthropometric Traits Consortium.	12/14/2008	35.53	Nature genetics Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Abstract
Gibbs, Richard A	Baylor College of Medicine	10/03/2011	32.40	Cell Clan genomics and the complex architecture of human disease. Abstract
Raychaudhuri, Soumya	Harvard Medical School	10/03/2011	32.40	Cell Mapping rare and common causal alleles for complex human diseases. Abstract
Bigham, Abigail W	University of Washington	05/17/2012	31.20	Science (New York, N.Y.) Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Abstract
Mooser, Vincent	Department of Quantitative Sciences, GlaxoSmithKline (GSK), Research Triangle Park, NC 27709	05/17/2012	31.20	Science (New York, N.Y.) An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Abstract
Tyler-Smith, Chris	Wellcome Trust Sanger Institute	02/20/2012	31.20	Science (New York, N.Y.) A systematic survey of loss-of-function variants in human protein-coding genes. Abstract
Zeggini, Eleftheria	Wellcome Trust Sanger Institute	11/04/2010	22.23	Annual review of genetics Rare variant association analysis methods for complex traits. Abstract
Reese, Martin G	University of Utah and School of Medicine	06/23/2011	13.60	Genome research A probabilistic disease-gene finder for personal genomes. Abstract
Xiong, Momiao	University of New Mexico	04/26/2011	13.60	Genome research Association studies for next-generation sequencing. Abstract
Pedersen, Oluf	University of California	11/27/2013	10.60	American journal of human genetics Whole-exome sequencing of 2,000 Danish individuals and the role of rare coding variants in type 2 diabetes. Abstract
Lin, Xihong	Harvard School of Public Health	05/16/2013	10.60	American journal of human genetics Sequence kernel association tests for the combined effect of rare and common variants. Abstract
Nicolae, Dan L	The University of Chicago	11/15/2012	10.60	American journal of human genetics An exponential combination procedure for set-based association tests in sequencing studies. Abstract
Seidman, Christine	Harvard Medical School	09/10/2012	10.60	American journal of human genetics Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts. Abstract
Goldstein, David B	Duke University School of Medicine	08/30/2012	10.60	American journal of human genetics Prioritizing genetic variants for causality on the basis of preferential linkage disequilibrium. Abstract
Lin, Xihong	Harvard School of Public Health	08/02/2012	10.60	American journal of human genetics Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies. Abstract
Xiong, Momiao	University of New Mexico	06/11/2012	10.60	American journal of human genetics Family-based association studies for next-generation sequencing. Abstract
Lin, Xihong	Harvard School of Public Health	07/07/2011	10.60	American journal of human genetics Rare-variant association testing for sequencing data with the sequence kernel association test. Abstract
Leal, Suzanne M	Baylor College of Medicine	12/07/2010	10.60	American journal of human genetics Replication strategies for rare variant complex trait association studies via next-generation sequencing. Abstract
Li, Mingyao	University of North Carolina at Chapel Hill	11/04/2010	10.60	American journal of human genetics To identify associations with rare variants, just WHaIT: Weighted haplotype and imputation-based tests. Abstract
Sunyaev, Shamil R	Harvard School of Public Health	05/13/2010	10.60	American journal of human genetics Pooled association tests for rare variants in exon-resequencing studies. Abstract
Hakonarson, Hakon	Children's Hospital of Philadelphia	04/29/2010	10.60	American journal of human genetics Interpretation of association signals and identification of causal variants from genome-wide association studies. Abstract
Ioannidis, John P A	Department of Predictive and for Prevention Medicine, Fondazione IRCCS, Istituto Nazionale Tumori, Via G. Venezian 1, 20133 Milan	01/26/2010	10.06	Trends in genetics : TIG Beyond genome-wide association studies: genetic heterogeneity and individual predisposition to cancer. Abstract
Yu, Fuli	Boston College	09/14/2011	9.04	Genome biology The functional spectrum of low-frequency coding variation. Abstract
Hakonarson, Hakon	The Children's Hospital of Philadelphia	09/29/2009	9.04	Genome biology Common variants in polygenic schizophrenia. Abstract
Li, Jun	University of Alabama at Birmingham	12/01/2011	8.69	PLoS genetics Hierarchical generalized linear models for multiple groups of rare and common variants: jointly estimating group and individual-variant effects. Abstract
Abecasis, Gonçalo R	Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato	07/28/2011	8.69	PLoS genetics Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability. Abstract
Daly, Mark J	Massachusetts General Hospital	03/03/2011	8.69	PLoS genetics Testing for an unusual distribution of rare variants. Abstract
Lange, Christoph	University of Bonn	02/03/2011	8.69	PLoS genetics A new testing strategy to identify rare variants with either risk or protective effect on disease. Abstract
Nicolae, Dan L	The University of Chicago	11/11/2010	8.69	PLoS genetics An evolutionary framework for association testing in resequencing studies. Abstract
Leal, Suzanne M	Baylor College of Medicine	10/14/2010	8.69	PLoS genetics A novel adaptive method for the analysis of next-generation sequencing data to detect complex trait associations with rare variants due to gene main effects and interactions. Abstract
Goldstein, David B	Duke University School of Medicine	09/09/2010	8.69	PLoS genetics The characterization of twenty sequenced human genomes. Abstract
Leal, Suzanne M	Baylor College of Medicine	05/15/2009	8.69	PLoS genetics Discovery of rare variants via sequencing: implications for the design of complex trait association studies. Abstract
Bertram, L	Massachusetts General Hospital	04/04/2012	8.31	Neurology Role of common and rare APP DNA sequence variants in Alzheimer disease. Abstract
Pedersen, Oluf	Hagedorn Research Institute	01/28/2010	8.29	Diabetes Combined analyses of 20 common obesity susceptibility variants. Abstract
Raychaudhuri, Soumya	Broad Institute of Harvard and MIT	11/25/2013	8.09	Current opinion in genetics & development Using chromatin marks to interpret and localize genetic associations to complex human traits and diseases. Abstract
Carvajal-Carmona, Luis G	Universidad del Tolima	06/18/2010	8.09	Current opinion in genetics & development Challenges in the identification and use of rare disease-associated predisposition variants. Abstract
Carvajal-Carmona, Luis G	Universidad del Tolima	05/28/2010	8.09	Current opinion in genetics & development Challenges in the identification and use of rare disease-associated predisposition variants. Abstract
Zeggini, E	University of Manchester	06/01/2011	7.87	Arthritis and rheumatism Examining the overlap between genome-wide rare variant association signals and linkage peaks in rheumatoid arthritis. Abstract
Abecasis, Gonçalo R	Massachusetts General Hospital	09/13/2012	7.64	Human molecular genetics Exome sequencing and complex disease: practical aspects of rare variant association studies. Abstract
Shendure, Jay	HudsonAlpha Institute for Biotechnology	09/15/2010	7.64	Human molecular genetics Massively parallel sequencing and rare disease. Abstract
Zeggini, Eleftheria	Wellcome Trust Sanger Institute	08/30/2010	7.64	Human molecular genetics Synthetic associations in the context of genome-wide association scan signals. Abstract
Zeggini, Eleftheria	University of Oxford	12/17/2013	7.40	Nature communications A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates. Abstract
Zeggini, Eleftheria	Wellcome Trust Sanger Institute	09/04/2009	6.41	International journal of epidemiology Ranking of genome-wide association scan signals by different measures. Abstract
Xiong, Momiao	University of New Mexico	08/14/2012	6.37	Journal of medical genetics Quantitative trait locus analysis for next-generation sequencing with the functional linear models. Abstract
Hegele, Robert A	University of Western Ontario	12/01/2011	6.11	Circulation. Cardiovascular genetics Excess of rare variants in non-genome-wide association study candidate genes in patients with hypertriglyceridemia. Abstract
Li, Jing	Case Western Reserve University	10/27/2012	5.47	Bioinformatics (Oxford, England) Rare variant discovery and calling by sequencing pooled samples with overlaps. Abstract
Lange, Christoph	University of Bonn	10/08/2012	5.47	Bioinformatics (Oxford, England) 'Location, Location, Location': a spatial approach for rare variant analysis and an application to a study on non-syndromic cleft lip with or without cleft palate. Abstract
Leal, Suzanne M	Baylor College of Medicine	08/22/2012	5.47	Bioinformatics (Oxford, England) SimRare: a program to generate and analyze sequence-based data for association studies of quantitative and qualitative traits. Abstract
Leal, Suzanne M	Baylor College of Medicine	05/03/2012	5.47	Bioinformatics (Oxford, England) SEQCHIP: a powerful method to integrate sequence and genotype data for the detection of rare variant associations. Abstract
Goldstein, David B	Duke University School of Medicine	05/29/2011	5.47	Bioinformatics (Oxford, England) SVA: software for annotating and visualizing sequenced human genomes. Abstract
Witte, John S	University of California San Francisco	03/18/2010	5.45	Annual review of public health Genome-wide association studies and beyond. Abstract
Ioannidis, John P A	Department of Predictive and for Prevention Medicine, Fondazione IRCCS, Istituto Nazionale Tumori, Via G. Venezian 1, 20133 Milan	09/28/2010	5.22	American journal of epidemiology Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review. Abstract
Zeggini, Eleftheria	University of Oxford	09/18/2010	5.07	Human genetics Rare variation at the TNFAIP3 locus and susceptibility to rheumatoid arthritis. Abstract
Xiong, Momiao	University of New Mexico	07/11/2012	4.40	European journal of human genetics : EJHG Smoothed functional principal component analysis for testing association of the entire allelic spectrum of genetic variation. Abstract
Zhang, Shuanglin	Michigan Technological University	07/11/2012	4.40	European journal of human genetics : EJHG Adaptive clustering and adaptive weighting methods to detect disease associated rare variants. Abstract
Zeggini, Eleftheria	Wellcome Trust Sanger Institute	02/01/2012	4.40	European journal of human genetics : EJHG An evaluation of different meta-analysis approaches in the presence of allelic heterogeneity. Abstract
Xiong, Momiao	University of New Mexico	07/26/2013	4.09	PloS one Bayesian detection of causal rare variants under posterior consistency. Abstract
Schork, Nicholas J	The Scripps Translational Science Institute	03/30/2011	4.09	PloS one Efficient and cost effective population resequencing by pooling and in-solution hybridization. Abstract
Witte, John S	University of California San Francisco	11/03/2010	4.09	PloS one Comprehensive approach to analyzing rare genetic variants. Abstract
Xiong, Momiao	University of New Mexico	11/24/2012	4.07	BMC genomics Weighted pedigree-based statistics for testing the association of rare variants. Abstract
Xiong, Momiao	University of New Mexico	06/17/2011	4.07	BMC genomics Implication of next-generation sequencing on association studies. Abstract
Zhang, Shuanglin	Michigan Technological University	12/30/2013	3.44	Genetic epidemiology A novel test for testing the optimally weighted combination of rare and common variants based on data of parents and affected children. Abstract
Xiong, Momiao	University of New Mexico	10/16/2013	3.44	Genetic epidemiology Functional linear models for association analysis of quantitative traits. Abstract
Leal, Suzanne M	Baylor College of Medicine	06/11/2013	3.44	Genetic epidemiology Testing for rare variant associations in the presence of missing data. Abstract
Lin, Xihong	Harvard School of Public Health	11/26/2012	3.44	Genetic epidemiology Detecting rare variant effects using extreme phenotype sampling in sequencing association studies. Abstract
Li, Mingyao	University of North Carolina at Chapel Hill	10/02/2012	3.44	Genetic epidemiology Testing genetic association with rare variants in admixed populations. Abstract
Witte, John S	University of California San Francisco	07/16/2012	3.44	Genetic epidemiology Joint association testing of common and rare genetic variants using hierarchical modeling. Abstract
Zhang, Shuanglin	Michigan Technological University	06/19/2012	3.44	Genetic epidemiology Detecting association of rare and common variants by testing an optimally weighted combination of variants. Abstract
Zhang, Shuanglin	Michigan Technological University	06/01/2012	3.44	Genetic epidemiology Two adaptive weighting methods to test for rare variant associations in family-based designs. Abstract
Lange, Christoph	University of Bonn	04/30/2012	3.44	Genetic epidemiology Is it rare or common? Abstract
Zeggini, Eleftheria	University of Oxford	09/15/2011	3.44	Genetic epidemiology Defining the power limits of genome-wide association scan meta-analyses. Abstract
Chatterjee, Nilanjan	National Cancer Institute	03/02/2011	3.44	Genetic epidemiology Efficient study design for next generation sequencing. Abstract
Lange, Christoph	University of Bonn	09/06/2010	3.44	Genetic epidemiology On the genome-wide analysis of copy number variants in family-based designs: methods for combining family-based and population-based information for testing dichotomous or quantitative traits, or completely ascertained samples. Abstract
Dunlop, Malcolm G	University of Oxford	02/01/2012	3.18	Mutagenesis Investigation of the effects of DNA repair gene polymorphisms on the risk of colorectal cancer. Abstract
Zeggini, Eleftheria	Wellcome Trust Sanger Institute	10/21/2010	2.75	BMC bioinformatics CCRaVAT and QuTie-enabling analysis of rare variants in large-scale case control and quantitative trait association studies. Abstract
Li, Jing	Case Western Reserve University	01/18/2010	2.75	BMC bioinformatics A novel approach for haplotype-based association analysis using family data. Abstract
Lin, Xihong	Harvard School of Public Health	06/14/2012	2.15	Biostatistics (Oxford, England) Optimal tests for rare variant effects in sequencing association studies. Abstract