LAB
INDEX
Showing search results for "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
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