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by Cummings, Beryl B and Marshall, Jamie L and Tukiainen, Taru and Lek, Monkol and Donkervoort, Sandra and Foley, A. Reghan and Bolduc, Veronique and Waddell, Leigh B and Sandaradura, Sarah A and O'Grady, Gina L and Estrella, Elicia and Reddy, Hemakumar M and Zhao, Fengmei and Weisburd, Ben and Karczewski, Konrad J and O'Donnell-Luria, Anne H and Birnbaum, Daniel and Sarkozy, Anna and Hu, Ying and Gonorazky, Hernan and Claeys, Kristl and Joshi, Himanshu and Bournazos, Adam and Oates, Emily C and Ghaoui, Roula and Davis, Mark R and Laing, Nigel G and Topf, Ana and Kang, Peter B and Beggs, Alan H and North, Kathryn N and Straub, Volker and Dowling, James J and Muntoni, Francesco and Clarke, Nigel F and Cooper, Sandra T and Bönnemann, Carsten G and MacArthur, Daniel G and Ardlie, Kristin G and Getz, Gad and Gelfand, Ellen T and Segrè, Ayellet V and Aguet, François and Sullivan, Timothy J and Li, Xiao and Nedzel, Jared L and Trowbridge, Casandra A and Hadley, Kane and Huang, Katherine H and Noble, Michael S and Nguyen, Duyen T and Nobel, Andrew B and Wright, Fred A and Shabalin, Andrey A and Palowitch, John J and Zhou, Yi-Hui and Dermitzakis, Emmanouil T and McCarthy, Mark I and Payne, Anthony J and Lappalainen, Tuuli and Castel, Stephane and Kim-Hellmuth, Sarah and Mohammadi, Pejman and Battle, Alexis and Parsana, Princy and Mostafavi, Sara and Brown, Andrew and Ongen, Halit and Delaneau, Olivier and Panousis, Nikolaos and Howald, Cedric and Van De Bunt, Martijn and Guigo, Roderic and Monlong, Jean and Reverter, Ferran and Garrido, Diego and Munoz, Manuel and Bogu, Gireesh and Sodaei, Reza and Papasaikas, Panagiotis and Ndungu, Anne W and Montgomery, Stephen B and Li, Xin and Fresard, Laure and Davis, Joe R and Tsang, Emily K and Zappala, Zachary and Abell, Nathan S and Gloudemans, Michael J and Liu, Boxiang and Damani, Farhan N and Saha, Ashis and Kim, Yungil and Strober, Benjamin J and He, Yuan and Stephens, Matthew and Pritchard, Jonathan K and Wen, Xiaoquan and Urbut, Sarah and Cox, Nancy J and ... and Genotype-Tissue Expression Cinsort and Genotype-Tissue Expression Consortium
Science Translational Medicine, ISSN 1946-6234, 04/2017, Volume 9, Issue 386, pp. eaal5209 - eaal5209
Exome and whole-genome sequencing are becoming increasingly routine approaches in Mendelian disease diagnosis. Despite their success, the current diagnostic... 
MEDICINE, RESEARCH & EXPERIMENTAL | VARIANTS | RNA-SEQ | ENHANCERS ESES | GUIDELINES | MUTATIONS | TOOL | CELL BIOLOGY | Collagen Type VI - genetics | Muscular Diseases - metabolism | Humans | Collagen Type VI - metabolism | Transcriptome - genetics | Muscular Diseases - genetics | Mutation | High-Throughput Nucleotide Sequencing - methods | Index Medicus | Genètica
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 12/2009, Volume 94, Issue 12, pp. 5155 - 5162
Journal Article
American Journal of Physiology - Endocrinology And Metabolism, ISSN 0193-1849, 12/2010, Volume 299, Issue 6, pp. 1016 - 1027
Adipose tissue macrophages are associated with insulin resistance and are linked to changes in the extracellular matrix. To better characterize adipose... 
Alternatively activated macrophages | Crownlike structures | Inflammation | ADIPOCYTE DEATH | PHYSIOLOGY | PHENOTYPE | HUMANS | crownlike structures | REDUCTION | alternatively activated macrophages | inflammation | ENDOCRINOLOGY & METABOLISM | HUMAN OBESITY | MICE | CHRONIC INFLAMMATION | POLARIZATION | EXPRESSION | Glucose Intolerance - metabolism | Inflammation - pathology | Coculture Techniques | Humans | Middle Aged | Collagen Type VI - metabolism | Male | Glucose Intolerance - pathology | Fibrosis - metabolism | Obesity - genetics | Collagen Type VI - genetics | Adipose Tissue - metabolism | Inflammation - metabolism | Insulin Resistance - physiology | Adult | Female | Insulin - genetics | Cytokines - genetics | Cell Line | Fibrosis - genetics | Glucose Intolerance - genetics | Cytokines - metabolism | Macrophages - pathology | Adipose Tissue - pathology | Cells, Cultured | Reverse Transcriptase Polymerase Chain Reaction | Obesity - metabolism | Obesity - pathology | Insulin - metabolism | Macrophages - metabolism | Fluorescent Antibody Technique | Inflammation - genetics | Fibrosis - pathology | Adipose tissues | Care and treatment | Fibrosis | Physiological aspects | Insulin resistance | Macrophages | Properties | Cell culture | Cell growth | Body fat | Molecular structure | Collagen | Gene expression | Cells | Index Medicus
Journal Article
Nature communications, ISSN 2041-1723, 2014, Volume 5, Issue 1, pp. 3485 - 3485
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 12/2015, Volume 125, Issue 12, pp. 4483 - 4496
Journal Article