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Nature Genetics, ISSN 1061-4036, 09/2009, Volume 41, Issue 9, pp. 1022 - 1026
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2007, Volume 39, Issue 8, pp. 1007 - 1012
Journal Article
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
PLoS ONE, ISSN 1932-6203, 06/2013, Volume 8, Issue 6, pp. e66592 - e66592
Background: Heroin dependence is a debilitating psychiatric disorder with complex inheritance. Since the dopaminergic system has a key role in rewarding... 
ASSOCIATION ANALYSIS | FUNCTIONAL POLYMORPHISM | DEFICIT HYPERACTIVITY DISORDER | TRANSPORTER GENE | MULTIDISCIPLINARY SCIENCES | PROMOTER REGION | NOVELTY SEEKING | FACTOR-KAPPA-B | RECEPTOR DRD4 GENE | EXON-III POLYMORPHISM | TANDEM DUPLICATION POLYMORPHISM | Haplotypes | Multivariate Analysis | Humans | Middle Aged | Male | Catechol O-Methyltransferase - genetics | Receptors, Dopamine D4 - genetics | Case-Control Studies | Young Adult | Adult | Female | Heroin Dependence - genetics | Genetic Predisposition to Disease | Genetic Association Studies | Risk Factors | Protein-Serine-Threonine Kinases - genetics | Dopamine Plasma Membrane Transport Proteins - genetics | Receptors, Dopamine D2 - genetics | Linkage Disequilibrium | Polymorphism, Restriction Fragment Length | Adolescent | Bayes Theorem | Aged | Models, Genetic | Polymorphism, Single Nucleotide | Catechin | Genes | Illegal drugs | Genetic research | Genetic aspects | Single nucleotide polymorphisms | Mental illness | Risk factors | Heroin | Heroin habit | Dopamine receptors | Attention deficit disorder | Drugs | Drug abuse | Brain | Neurobiology | Single-nucleotide polymorphism | Multivariate analysis | Kinases | Dopamine D4 receptors | Gene polymorphism | Information systems | Addictive behaviors | Dopamine transporter | Dopamine D2 receptors | Dopamine | Narcotics | Alcoholism | Catechol | Heredity | Risk analysis | Addictions | Studies | Hypotheses | Multilevel | Alleles | Cocaine | Ankyrin | Molecular biology | Psychiatry | Bayesian analysis | Transporter | Polymorphism | Smoking | Index Medicus
Journal Article
Human Mutation, ISSN 1059-7794, 04/2009, Volume 30, Issue 4, pp. 695 - 702
Journal Article
Human Mutation, ISSN 1059-7794, 06/2012, Volume 33, Issue 6, pp. 981 - 988
Journal Article