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by Dickinson, Mary E and Flenniken, Ann M and Ji, Xiao and Teboul, Lydia and Wong, Michael D and White, Jacqueline K and Meehan, Terrence F and Weninger, Wolfgang J and Westerberg, Henrik and Adissu, Hibret and Baker, Candice N and Bower, Lynette and Brown, James M and Brianna Caddle, L and Chiani, Francesco and Clary, Dave and Cleak, James and Daly, Mark J and Denegre, James M and Doe, Brendan and Dolan, Mary E and Edie, Sarah M and Fuchs, Helmut and Gailus-Durner, Valerie and Galli, Antonella and Gambadoro, Alessia and Gallegos, Juan and Guo, Shiying and Horner, Neil R and Hsu, Chih-wei and Johnson, Sara J and Kalaga, Sowmya and Keith, Lance C and Lanoue, Louise and Lawson, Thomas N and Lek, Monkol and Mark, Manuel and Marschall, Susan and Mason, Jeremy and McElwee, Melissa L and Newbigging, Susan and Nutter, Lauryl M.J and Peterson, Kevin A and Ramirez-Solis, Ramiro and Rowland, Douglas J and Ryder, Edward and Samocha, Kaitlin E and Seavitt, John R and Selloum, Mohammed and Szoke-Kovacs, Zsombor and Tamura, Masaru and Trainor, Amanda G and Tudose, Ilinca and Wakana, Shigeharu and Warren, Jonathan and Wendling, Olivia and West, David B and Wong, Leeyean and Yoshiki, Atsushi and MacArthur, Daniel G and Tocchini-Valentini, Glauco P and Gao, Xiang and Flicek, Paul and Bradley, Allan and Skarnes, William C and Justice, Monica J and Parkinson, Helen E and Moore, Mark and Wells, Sara and Braun, Robert E and Svenson, Karen L and Hrabe de Angelis, Martin and Herault, Yann and Mohun, Tim and Mallon, Ann-Marie and Mark Henkelman, R and Brown, Steve D.M and Adams, David J and Kent Lloyd, K.C and McKerlie, Colin and Beaudet, Arthur L and Bucan, Maja and Murray, Stephen A and McKay, Matthew and Urban, Barbara and Lund, Caroline and Froeter, Erin and LaCasse, Taylor and Mehalow, Adrienne and Gordon, Emily and Donahue, Leah Rae and Taft, Robert and Kutney, Peter and Dion, Stephanie and Goodwin, Leslie and Kales, Susan and Urban, Rachel and Palmer, Kristina and Pertuy, Fabien and Bitz, Deborah and ... and Int Mouse Phenotyping Consortium and The International Mouse Phenotyping Consortium
Nature, ISSN 0028-0836, 09/2016, Volume 537, Issue 7621, pp. 508 - 514
Approximately one-third of all mammalian genes are essential for life. Phenotypes resulting from knockouts of these genes in mice have provided tremendous... 
MICRO-CT | MULTIDISCIPLINARY SCIENCES | DISEASE | GENOME-WIDE | MAMMALIAN GENE-FUNCTION | SCREENS | GLYCOGENIN-1 DEFICIENCY | IDENTIFICATION | EXPRESSION | MOUSE EMBRYO | RESOURCE | Genetic research | Phenotype | Research | High-throughput screening (Biochemical assaying) | Methods | Genotype & phenotype | Disease | Developmental biology | Genes | Genomes | Mutation | Embryos | knockout | embryonic lethal | mouse | KOMP | IMPC | EUCOMM
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 08/2011, Volume 365, Issue 6, pp. 518 - 526
Journal Article
Nature Cell Biology, ISSN 1465-7392, 2015, Volume 17, Issue 8, pp. 1074 - 1087
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics... 
JOUBERT-SYNDROME | RPGRIP1 | TRANSPORT | CENTRIOLE BIOGENESIS | PROTEIN | C-ELEGANS | MUTATIONS | PHOTORECEPTOR CELLS | MASTER REGULATOR | PRIMARY CILIA | CELL BIOLOGY | Humans | Pregnancy Proteins - genetics | Databases, Genetic | Suppressor Factors, Immunologic - genetics | Photoreceptor Cells - ultrastructure | Pregnancy Proteins - metabolism | Ellis-Van Creveld Syndrome - genetics | Cerebellum - abnormalities | Genetic Testing - methods | Suppressor Factors, Immunologic - metabolism | Membrane Proteins - deficiency | Transfection | RNA Interference | HEK293 Cells | Kidney Diseases, Cystic - genetics | Genomics - methods | Genetic Predisposition to Disease | Genome-Wide Association Study | Reproducibility of Results | Caenorhabditis elegans - metabolism | Cilia - pathology | Caenorhabditis elegans - genetics | Membrane Proteins - genetics | Mice, Inbred C57BL | Abnormalities, Multiple | Genetic Markers | Eye Abnormalities - genetics | Cilia - metabolism | Zebrafish - genetics | Cilia - genetics | Mice, Knockout | Proteins - genetics | Caenorhabditis elegans - ultrastructure | Phenotype | Animals | Cerebellar Diseases - genetics | Ciliary Motility Disorders - pathology | Proteins - metabolism | Photoreceptor Cells - metabolism | Zebrafish - metabolism | Retina - abnormalities | High-Throughput Nucleotide Sequencing | Ciliary Motility Disorders - metabolism | Mutation | Ciliary Motility Disorders - genetics | RNA | Cilia and ciliary motion | Genetic research | Biosynthesis | Genetic aspects | Research | Gene expression | Properties | reverse genetics | cilia | ciliopathies | Joubert syndrome | whole-genome siRNA screen | Jeune syndrome
Journal Article
by Mavaddat, Nasim and Michailidou, Kyriaki and Dennis, Joe and Lush, Michael and Fachal, Laura and Lee, Andrew and Tyrer, Jonathan P and Chen, Ting-Huei and Wang, Qin and Bolla, Manjeet K and Yang, Xin and Adank, Muriel A and Ahearn, Thomas and Aittomäki, Kristiina and Allen, Jamie and Andrulis, Irene L and Anton-Culver, Hoda and Antonenkova, Natalia N and Arndt, Volker and Aronson, Kristan J and Auer, Paul L and Auvinen, Päivi and Barrdahl, Myrto and Beane Freeman, Laura E and Beckmann, Matthias W and Behrens, Sabine and Benitez, Javier and Bermisheva, Marina and Bernstein, Leslie and Blomqvist, Carl and Bogdanova, Natalia V and Bojesen, Stig E and Bonanni, Bernardo and Børresen-Dale, Anne-Lise and Brauch, Hiltrud and Bremer, Michael and Brenner, Hermann and Brentnall, Adam and Brock, Ian W and Brooks-Wilson, Angela and Brucker, Sara Y and Brüning, Thomas and Burwinkel, Barbara and Campa, Daniele and Carter, Brian D and Castelao, Jose E and Chanock, Stephen J and Chlebowski, Rowan and Christiansen, Hans and Clarke, Christine L and Collée, J. Margriet and Cordina-Duverger, Emilie and Cornelissen, Sten and Couch, Fergus J and Cox, Angela and Cross, Simon S and Czene, Kamila and Daly, Mary B and Devilee, Peter and Dörk, Thilo and dos-Santos-Silva, Isabel and Dumont, Martine and Durcan, Lorraine and Dwek, Miriam and Eccles, Diana M and Ekici, Arif B and Eliassen, A. Heather and Ellberg, Carolina and Engel, Christoph and Eriksson, Mikael and Evans, D. Gareth and Fasching, Peter A and Figueroa, Jonine and Fletcher, Olivia and Flyger, Henrik and Försti, Asta and Fritschi, Lin and Gabrielson, Marike and Gago-Dominguez, Manuela and Gapstur, Susan M and García-Sáenz, José A and Gaudet, Mia M and Georgoulias, Vassilios and Giles, Graham G and Gilyazova, Irina R and Glendon, Gord and Goldberg, Mark S and Goldgar, David E and González-Neira, Anna and Grenaker Alnæs, Grethe I and Grip, Mervi and Gronwald, Jacek and Grundy, Anne and Guénel, Pascal and Haeberle, Lothar and Hahnen, Eric and Haiman, Christopher A and Håkansson, Niclas and Hamann, Ute and Hankinson, Susan E and ... and ABCTB Investigators and kConFab/AOCS Investigators and NBCS Collaborators and kConFab AOCS Investigators and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Uppsala universitet and Institutionen för kirurgiska vetenskaper
The American Journal of Human Genetics, ISSN 0002-9297, 01/2019, Volume 104, Issue 1, pp. 21 - 34
Journal Article
by Cacheiro, P and Munoz-Fuentes, V and Murray, SA and Dickinson, ME and Bucan, M and Nutter, LMJ and Peterson, KA and Haselimashhadi, H and Flenniken, AM and Morgan, H and Westerberg, H and Konopka, T and Hsu, CW and Christiansen, A and Lanza, DG and Beaudet, AL and Heaney, JD and Fuchs, H and Gailus-Durner, V and Sorg, T and Prochazka, J and Novosadova, V and Lelliott, CJ and Wardle-Jones, H and Wells, S and Teboul, L and Cater, H and Stewart, M and Hough, T and Wurst, W and Sedlacek, R and Adams, DJ and Seavitt, JR and Tocchini-Valentini, G and Mammano, F and Braun, RE and McKerlie, C and Herault, Y and de Angelis, MH and Mallon, AM and Lloyd, KCK and Brown, SDM and Parkinson, H and Meehan, TF and Smedley, D and Ambrose, JC and Arumugam, P and Baple, EL and Bleda, M and Boardman-Pretty, F and Boissiere, JM and Boustred, CR and Brittain, H and Caulfield, MJ and Chan, GC and Craig, CEH and Daugherty, LC and de Burca, A and Devereau, A and Elgar, G and Foulger, RE and Fowler, T and Furio-Tari, P and Hackett, JM and Halai, D and Hamblin, A and Henderson, S and Holman, JE and Hubbard, TJP and Ibanez, K and Jackson, R and Jones, LJ and Kasperaviciute, D and Kayikci, M and Lahnstein, L and Lawson, K and Leigh, SEA and Leong, IUS and Lopez, FJ and Maleady-Crowe, F and Mason, J and McDonagh, EM and Moutsianas, L and Mueller, M and Murugaesu, N and Need, AC and Odhams, CA and Patch, C and Perez-Gil, D and Polychronopoulos, D and Pullinger, J and Rahim, T and Rendon, A and Riesgo-Ferreiro, P and Rogers, T and Ryten, M and Savage, K and Sawant, K and Scott, RH and Siddiq, A and ... and Genomics England Res Consortium and Int Mouse Phenotyping Consortium and Genomics England Research Consortium and International Mouse Phenotyping Consortium and The Genomics England Research Consortium and The International Mouse Phenotyping Consortium
NATURE COMMUNICATIONS, ISSN 2041-1723, 01/2020, Volume 11, Issue 1, pp. 655 - 655
The identification of causal variants in sequencing studies remains a considerable challenge that can be partially addressed by new gene-specific knowledge.... 
R/BIOCONDUCTOR PACKAGE | DATABASE | VARIANTS | IMPC | MULTIDISCIPLINARY SCIENCES | UPDATE | GENOME | Animals | Disease - genetics | Genomics | Humans | Genetic Association Studies - methods | Mice | Genes, Essential | Mice, Knockout | Biological properties | Cell survival | Disease | Genes | Disorders | Genomes | Gene sequencing | Consortia | Intolerance | Species classification | Phenotyping | Cell lines | Viability | Index Medicus
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2011, Volume 43, Issue 3, pp. 189 - 196
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 03/2005, Volume 352, Issue 9, pp. 865 - 874
Journal Article