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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
The American Journal of Human Genetics, ISSN 0002-9297, 05/2012, Volume 90, Issue 5, pp. 925 - 933
Journal Article
by Snijders Blok, Lot and Madsen, Erik and Juusola, Jane and Gilissen, Christian and Baralle, Diana and Reijnders, Margot R.F and Venselaar, Hanka and Helsmoortel, Céline and Cho, Megan T and Hoischen, Alexander and Vissers, Lisenka E.L.M and Koemans, Tom S and Wissink-Lindhout, Willemijn and Eichler, Evan E and Romano, Corrado and Van Esch, Hilde and Stumpel, Connie and Vreeburg, Maaike and Smeets, Eric and Oberndorff, Karin and van Bon, Bregje W.M and Shaw, Marie and Gecz, Jozef and Haan, Eric and Bienek, Melanie and Jensen, Corinna and Loeys, Bart L and Van Dijck, Anke and Innes, A. Micheil and Racher, Hilary and Vermeer, Sascha and Di Donato, Nataliya and Rump, Andreas and Tatton-Brown, Katrina and Parker, Michael J and Henderson, Alex and Lynch, Sally A and Fryer, Alan and Ross, Alison and Vasudevan, Pradeep and Kini, Usha and Newbury-Ecob, Ruth and Chandler, Kate and Male, Alison and Dijkstra, Sybe and Schieving, Jolanda and Giltay, Jacques and van Gassen, Koen L.I and Schuurs-Hoeijmakers, Janneke and Tan, Perciliz L and Pediaditakis, Igor and Haas, Stefan A and Retterer, Kyle and Reed, Patrick and Monaghan, Kristin G and Haverfield, Eden and Natowicz, Marvin and Myers, Angela and Kruer, Michael C and Stein, Quinn and Strauss, Kevin A and Brigatti, Karlla W and Keating, Katherine and Burton, Barbara K and Kim, Katherine H and Charrow, Joel and Norman, Jennifer and Foster-Barber, Audrey and Kline, Antonie D and Kimball, Amy and Zackai, Elaine and Harr, Margaret and Fox, Joyce and McLaughlin, Julie and Lindstrom, Kristin and Haude, Katrina M and van Roozendaal, Kees and Brunner, Han and Chung, Wendy K and Kooy, R. Frank and Pfundt, Rolph and Kalscheuer, Vera and Mehta, Sarju G and Katsanis, Nicholas and Kleefstra, Tjitske and DDD Study
The American Journal of Human Genetics, ISSN 0002-9297, 08/2015, Volume 97, Issue 2, pp. 343 - 352
Journal Article
Genome, ISSN 0831-2796, 02/2010, Volume 53, Issue 2, pp. 83 - 102
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2019, Volume 27, Issue 5, pp. 738 - 746
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2015, Volume 52, Issue Suppl 2, pp. A10 - A10
BackgroundAllele-specific (AS)-PCR for known point mutations is a high-sensitivity method to monitor for minimal residual disease (MRD) in metastatic... 
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2015, Volume 52, Issue Suppl 1, pp. A6 - A7
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2015, Volume 52, Issue Suppl 1, p. A6
BackgroundCHD8 is one of a few genes in which de novo loss of function mutations have been identified in multiple cases across multiple autism cohorts in... 
Journal Article
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 03/2018, Volume 39, Issue 2, pp. 288 - 290
Journal Article
by Walpole, Sebastian and Walpole, Sebastian and Pritchard, Antonia L and Pritchard, Antonia L and Cebulla, Colleen M and Pilarski, Robert and Stautberg, Meredith and Stautberg, Meredith and Davidorf, Frederick H and De La Fouchardière, Arnaud and de la Fouchardière, Arnaud and Cabaret, Odile and Cabaret, Odile and Golmard, Lisa and Golmard, Lisa and Stoppa-Lyonnet, Dominique and Stoppa-Lyonnet, Dominique and Garfield, Erin and Njauw, Ching-Ni and Cheung, Mitchell and Turunen, Joni A and Turunen, Joni A and Repo, Pauliina and Repo, Pauliina and Järvinen, Reetta-Stiina and Järvinen, Reetta-Stiina and van Doorn, Remco and Jager, Martine J and Luyten, Gregorius P.M and Luyten, Gregorius P M and Marinkovic, Marina and Chau, Cindy and Potrony, Miriam and Potrony, Miriam and Höiom, Veronica and Helgadottir, Hildur and Helgadottir, Hildur and Pastorino, Lorenza and Pastorino, Lorenza and Bruno, William and Bruno, William and Andreotti, Virginia and Andreotti, Virginia and Dalmasso, Bruna and Dalmasso, Bruna and Ciccarese, Giulia and Ciccarese, Giulia and Queirolo, Paola and Queirolo, Paola and Mastracci, Luca and Wadt, Karin and Kiilgaard, Jens Folke and Kiilgaard, Jens Folke and Speicher, Michael R and van Poppelen, Natasha and Kilic, Emine and Kilic, Emine and Al-Jamal, Rana T and Al-Jamal, Rana'a T and Dianzani, Irma and Dianzani, Irma and Betti, Marta and Betti, Marta and Bergmann, Carsten and Bergmann, Carsten and Santagata, Sandro and Dahiya, Sonika and Dahiya, Sonika and Taibjee, Saleem and Taibjee, Saleem and Burke, Jo and Burke, Jo and Poplawski, Nicola and Poplawski, Nicola and O'Shea, Sally J and O'Shea, Sally J and Newton-Bishop, Julia and Adlard, Julian and Adlard, Julian and Adams, David J and Adams, David J and Lane, Anne-Marie and Lane, Anne-Marie and Hayward, Nicholas K and Kim, Ivana and Klebe, Sonja and Abdel Rahman, Mohamed H and Racher, Hilary and Harbour, J William and Nickerson, Michael L and Murali, Rajmohan and Palmer, Jane M and Howlie, Madeleine and Symmons, Judith and Hamilton, Hayley and Warrier, Sunil and Glasson, William and Johansson, Peter and Robles-Espinoza, Carla Daniela and Ossio, Raul and ...
Journal of the National Cancer Institute, ISSN 0027-8874, 12/2018, Volume 110, Issue 12, pp. 1328 - 1341
Background: The BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is a hereditary tumor syndrome caused by germline pathogenic... 
CHOLANGIOCARCINOMA | PROTEIN-1 | UVEAL MELANOMA | ONCOLOGY | DISEASE | MUTATIONS PREDISPOSE | TUMOR-SUPPRESSOR | MALIGNANT MESOTHELIOMA | RENAL-CELL CARCINOMA | HYDROLASE | PREDICTION
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2014, Volume 164, Issue 3, pp. 676 - 684
Journal Article
by Lebo, Matthew S and Zakoor, Kathleen-Rose and Chun, Kathy and Speevak, Marsha D and Waye, John S and McCready, Elizabeth and Parboosingh, Jillian S and Lamont, Ryan E and Feilotter, Harriet and Bosdet, Ian and Tucker, Tracy and Young, Sean and Karsan, Aly and Charames, George S and Agatep, Ronald and Spriggs, Elizabeth L and Chisholm, Caitlin and Vasli, Nasim and Daoud, Hussein and Jarinova, Olga and Tomaszewski, Robert and Hume, Stacey and Taylor, Sherryl and Akbari, Mohammad R and Lerner-Ellis, Jordan and Ainsworth, Peter and Aronson, Melyssa and Basran, Raveen and Blavier, Andre and Blumenthal, Andrea and Boycott, Kym and Brudno, Michael and Buckley, Kathleen and Campbell, Jodi and Campeau, Philippe M and Care, Melanie and Carson, Nancy and Carter, Ronald and Chitayat, David and Chong, George and Chouinard, Edmond and Craddock, Kenneth J and Docking, Rod and Eisen, Andrea and Faghfoury, Hanna and Farrell, Sandra and Fernandez, Bridget and Fiume, Marc and Forster-Gibson, Cynthia and Friedman, Jan and Foulkes, William and Goodhand, Peter and Gu, Jessica and Hegele, Robert and Holter, Spring and Horsburgh, Sheri and Hughes, Lauren and Jewett, Franny and Junker, Anne and Khalouei, Sam and Knoll, Joan and Kolomeitz, Elena and Knoppers, Bartha and Maire, Georges and Marshall, Christian and Mitchell, Grant and Moorhouse, Michael J and Morel, Chantal and Nelson, Tanya and Noor, Abdul and O'Connor, Brian and O'Rielly, Darren and Ouellette, Francis and Racher, Hilary and Ray, Peter and Rehm, Heidi and Riddell, Christie and Riviere, Jean-Baptiste and Rosenblatt, David S and Rouleau, Guy and Ruchon, Andrea and Sabatini, Peter and Sadikovic, Bekim and