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Bioinformatics (Oxford, England), ISSN 1367-4803, 06/2019
Understanding the protein structural context and patterning on proteins of genomic variants can help to separate benign from pathogenic variants and reveal... 
Journal Article
by Jostins, Luke and Ripke, Stephan and Weersma, Rinse K and Duerr, Richard H and McGovern, Dermot P and Hui, Ken Y and Lee, James C and Schumm, L. Philip and Sharma, Yashoda and Anderson, Carl A and Essers, Jonah and Mitrovic, Mitja and Ning, Kaida and Cleynen, Isabelle and Theatre, Emilie and Spain, Sarah L and Raychaudhuri, Soumya and Goyette, Philippe and Wei, Zhi and Abraham, Clara and Achkar, Jean-Paul and Ahmad, Tariq and Amininejad, Leila and Ananthakrishnan, Ashwin N and Andersen, Vibeke and Anews, Jane M and Baidoo, Leonard and Balschun, Tobias and Bampton, Peter A and Bitton, Alain and Boucher, Gabrielle and Brand, Stephan and Büning, Carsten and Cohain, Ariella and Cichon, Sven and D'Amato, Mauro and de Jong, Dirk and Devaney, Kathy L and Dubinsky, Marla and Edwards, Cathryn and Ellinghaus, David and Ferguson, Lynnette R and Franchimont, Denis and Fransen, Karin and Gearry, Richard and Georges, Michel and Gieger, Christian and Glas, Jürgen and Haritunians, Talin and Hart, Ailsa and Hawkey, Chris and Hedl, Matija and Hu, Xinli and Karlsen, Tom H and Kupcinskas, Limas and Kugathasan, Subra and Latiano, Anna and Laukens, Debby and Lawrance, Ian C and Lees, Charlie W and Louis, Edouard and Mahy, Gillian and Mansfield, John and Morgan, Angharad R and Mowat, Craig and Newman, William and Palmieri, Orazio and Ponsioen, Cyriel Y and Potocnik, Uros and Prescott, Natalie J and Regueiro, Miguel and Rotter, Jerome I and Russell, Richard K and Sanderson, Jeremy D and Sans, Miquel and Satsangi, Jack and Schreiber, Stefan and Simms, Lisa A and Sventoraityte, Jurgita and Targan, Stephan R and Taylor, Kent D and Tremelling, Mark and Verspaget, Hein W and de Vos, Martine and Wijmenga, Cisca and Wilson, David C and Winkelmann, Juliane and Xavier, Ramnik J and Zeissig, Sebastian and Zhang, Bin and Zhang, Clarence K and Zhao, Hongyu and Silverberg, Mark S and Annese, Vito and Hakonarson, Hakon and Brant, Steven R and Radford-Smith, Graham and Mathew, Christopher G and Rioux, John D and Schadt, Eric E and ... and Int IBD Genetics Consortium IIBDGC and International IBD Genetics Consortium (IIBDGC) and The International IBD Genetics Consortium (IIBDGC) and Region Örebro län and Örebro universitet and Institutionen för medicinska vetenskaper
Nature, ISSN 0028-0836, 2012, Volume 491, Issue 7422, pp. 119 - 124
Crohn's disease and ulcerative colitis, the two common forms of inflammatory bowel disease (IBD), affect over 2.5 million people of European ancestry, with... 
HYPER-IGE SYNDROME | RISK LOCI | NETWORK | NUMBER | METAANALYSIS | TUBERCULOSIS | MULTIDISCIPLINARY SCIENCES | SUSCEPTIBILITY | MUTATIONS | EXPRESSION | Crohn Disease - genetics | Humans | Inflammatory Bowel Diseases - immunology | Colitis, Ulcerative - genetics | Mycobacterium tuberculosis - immunology | Inflammatory Bowel Diseases - physiopathology | Colitis, Ulcerative - immunology | Host-Pathogen Interactions - immunology | Mycobacterium tuberculosis - pathogenicity | Haplotypes - genetics | Mycobacterium - pathogenicity | Mycobacterium Infections - genetics | Inflammatory Bowel Diseases - genetics | Crohn Disease - microbiology | Mycobacterium Infections - microbiology | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Reproducibility of Results | Mycobacterium - immunology | Crohn Disease - immunology | Genome, Human - genetics | Phenotype | Colitis, Ulcerative - microbiology | Host-Pathogen Interactions - genetics | Polymorphism, Single Nucleotide - genetics | Inflammatory Bowel Diseases - microbiology | Crohn Disease - physiopathology | Colitis, Ulcerative - physiopathology | Inflammatory bowel disease | Candidates | Tuberculosis | Architecture | Genetics | Genomes | Diabetes | Gene expression | Health risk assessment | Immune system | Index Medicus | Rheumatology and Autoimmunity | Basic Medicine | Medical Genetics | Medicinsk genetik | Clinical Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Reumatologi och inflammation | Medicinska och farmaceutiska grundvetenskaper | Klinisk medicin
Journal Article
Journal Article
Journal Article
PLoS Genetics, ISSN 1553-7390, 10/2010, Volume 6, Issue 10, pp. 1 - 11
Haploinsufficiency, wherein a single functional copy of a gene is insufficient to maintain normal function, is a major cause of dominant disease. Human disease... 
INTERACTION DATABASE | DUPLICATIONS | NETWORK | NATURAL-SELECTION | MOUSE | GENETICS & HEREDITY | AMINO-ACID SUBSTITUTIONS | DISORDERS | UPDATE | GENETIC DOMINANCE | MUTATIONS | Genetic Predisposition to Disease - genetics | Algorithms | Animals | Gene Deletion | Humans | Mice | Mutation | Genomics - methods | Genome, Human - genetics | Haploinsufficiency | Mice, Knockout | Index Medicus | Studies | Genetics | Genomes | Disease | Genes
Journal Article
by Loch, Jennifer A and Li, Heng and Walter, Klaudia and Liao, Arnold K and Chris Pinkard, D and Ivanov, Denis V and O'Neill, Michael J and Aniebo, Ify C and Haudenschild, Christian D and Ewan, Mark R and Earnshaw, David J and Ernest Sohna Sohna, Jean and Spence, Eric J and Worsley, Graham J and Goddard, Colin P and Bailey, David M. D and Ling Ng, Bee and Moon, Keith W and Carter, Richard J and Khrebtukova, Irina and Mullikin, James C and Parkinson, Michael L and Banerjee, Saibal and Harnish, Kevin and Sizto, Ning L and Etchin, Sergey S and Smith, Mark E and Shaw, Richard J and Novo, Sonia M and Ning, Zemin and Diakoumakos, Konstantinos D and Alam, Mohammed D and Bridgham, John A and Sluis, Johannes P and Mammen, Radhika M and Lok, Mitch and Egbujor, Ugonna C and Pickering, Lea and Scott Furey, W and Kumar, Anil and Mehta, Parul and Barbour, Selena G and Brown, Clive G and Rae, Vicki H and Luo, Shujun and Zuerlein, Mike and Torrance, Peta E and Hoschler, Katya and Rogers, Jane and Smith, Vincent P and Elmore, David W and Ostadan, Omead and Sabot, Andrea and Neil Cooley, R and Evers, Dirk J and Fedurco, Milan and Heyer, Narinder I and Karbelashvili, Mirian S and Black, Phillip J and Brown, Andrew A and Romieu, Anthony and Rawlings, Stephen R and Cox, Anthony J and Bignell, Helen R and Castillo, Nestor and Virk, Selene M and McCooke, Nick J and Durbin, Richard and Ellis, Darren J and Pliskin, Daniel P and Ruediger, Silke T and Boutell, Jonathan M and vandeVondele, Stephanie and Schenker, Martin R and Rasolonjatovo, Isabelle M. J and Hims, Matthew M and Benson, Kevin F and Yan, Juying and Seoane, Josefina M and Walcott, Gregory C and Irving, Leslie J and Rogers, John and Granieri, Philip A and Hurwitz, Steve and Milton, John and Smith, Geoffrey P and Rogert Bacigalupo, Maria C and McCauley, Patrick G and Sutton, Neil and Obradovic, Bojan and Tzonev, Svilen S and Stevens, Kim and Buermann, Dale H and Quijano, Victor J and Anastasi, Carole and Rigatti, Roberto and Benoit, Vincent A and Crake, Natasha R and Bundu, Abass A and Scally, Aylwyn and ...
Nature, ISSN 0028-0836, 11/2008, Volume 456, Issue 7218, pp. 53 - 59
Journal Article