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Otto, Edgar A., Hurd, Toby W., Airik, Rannar, Chaki, Moumita, Zhou, Weibin, Stoetzel, Corinne, Patil, Suresh B., Levy, Shawn 
ORCID: 0000-0002-1369-5740, Ghosh, Amiya K., Murga-Zamalloa, Carlos A., van Reeuwijk, Jeroen ORCID: 0000-0002-0658-4399, Letteboer, Stef J. F., Sang, Liyun, Giles, Rachel H., Liu, Qin, Coene, Karlien L. M., Estrada-Cuzcano, Alejandro ORCID: 0000-0001-9868-2465, Collin, Rob W. J., McLaughlin, Heather M., Held, Susanne, Kasanuki, Jennifer M., Ramaswami, Gokul, Conte, Jinny, Lopez, Irma, Washburn, Joseph, MacDonald, James, Hu, Jinghua, Yamashita, Yukiko ORCID: 0000-0001-5541-0216, Maher, Eamonn R., Guay-Woodford, Lisa M., Neumann, Hartmut P. H., Obermueller, Nicholas, Koenekoop, Robert K., Bergmann, Carsten, Bei, Xiaoshu ORCID: 0000-0003-1772-7161, Lewis, Richard A., Katsanis, Nicholas ORCID: 0000-0002-2480-0171, Lopes, Vanda, Williams, David S., Lyons, Robert H., Dang, Chi V., Brito, Daniela A., Dias, Monica Bettencourt, Zhang, Xinmin, Cavalcoli, James D., Nuernberg, Gudrun, Nuernberg, Peter, Pierce, Eric A., Jackson, Peter K., Antignac, Corinne, Saunier, Sophie ORCID: 0000-0002-1069-0047, Roepman, Ronald ORCID: 0000-0002-5178-8163, Dollfus, Helene, Khanna, Hemant and Hildebrandt, Friedhelm
(2010).
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.
Nature Genet., 42 (10).
S. 840 - 853.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1546-1718
Valcarcel-Jimenez, Lorea, Rogerson, Connor ORCID: 0000-0002-1425-9668, Yong, Cissy, Schmidt, Christina ORCID: 0000-0002-3867-0881, Yang, Ming ORCID: 0000-0002-7735-7804, Cremades-Rodelgo, Monica, Harle, Victoria, Offord, Victoria, Wong, Kim ORCID: 0000-0002-0984-1477, Mora, Ariane, Speed, Alyson, Caraffini, Veronica, Tran, Maxine Gia Binh, Maher, Eamonn R., Stewart, Grant D., Vanharanta, Sakari, Adams, David J. and Frezza, Christian
(2022).
HIRA loss transforms FH-deficient cells.
Sci. Adv., 8 (42).
WASHINGTON:
AMER ASSOC ADVANCEMENT SCIENCE.
ISSN 2375-2548
Yang, Xin, Leslie, Goska, Doroszuk, Alicja, Schneider, Sandra, Allen, Jamie ORCID: 0000-0002-8677-2225, Decker, Brennan ORCID: 0000-0003-4516-7421, Dunning, Alison M., Redman, James, Scarth, James ORCID: 0000-0002-0076-6853, Plaskocinska, Inga, Luccarini, Craig, Shah, Mitul, Pooley, Karen, Dorling, Leila, Lee, Andrew, Adank, Muriel A., Adlard, Julian, Aittomaki, Kristiina, Andrulis, Irene L., Ang, Peter, Barwell, Julian, Bernstein, Jonine L., Bobolis, Kristie, Borg, Ake, Blomqvist, Carl ORCID: 0000-0003-3041-1938, Claes, Kathleen B. M., Concannon, Patrick, Cuggia, Adeline, Culver, Julie O., Damiola, Francesca, de Pauw, Antoine, Diez, Orland, Dolinsky, Jill S., Domchek, Susan M., Engel, Christoph ORCID: 0000-0002-7247-282X, Evans, D. Gareth, Fostira, Florentia, Garber, Judy, Golmard, Lisa, Goode, Ellen L., Gruber, Stephen B., Hahnen, Eric, Hake, Christopher, Heikkinen, Tuomas ORCID: 0000-0003-1154-6204, Hurley, Judith E., Janavicius, Ramunas, Kleibl, Zdenek, Kleiblova, Petra, Konstantopoulou, Irene ORCID: 0000-0002-0470-0309, Kvist, Anders, Laduca, Holly, Lee, Ann S. G., Lesueur, Fabienne, Maher, Eamonn R., Mannermaa, Arto, Manoukian, Siranoush, McFarland, Rachel, McKinnon, Wendy, Meindl, Alfons, Metcalfe, Kelly, Taib, Nur Aishah Mohd ORCID: 0000-0001-8419-0478, Moilanen, Jukka, Nathanson, Katherine L., Neuhausen, Susan, Ng, Pei Sze, Nguyen-Dumont, Tu ORCID: 0000-0002-6217-0182, Nielsen, Sarah M., Obermair, Florian, Offit, Kenneth, Olopade, Olufunmilayo, I, Ottini, Laura, Penkert, Judith, Pylkas, Katri, Radice, Paolo, Ramus, Susan J., Rudaitis, Vilius, Side, Lucy, Silva-Smith, Rachel, Silvestri, Valentina, Skytte, Anne-Bine ORCID: 0000-0002-0067-9557, Slavin, Thomas, Soukupova, Jana, Tondini, Carlo, Trainer, Alison H., Unzeitig, Gary, Usha, Lydia, Hansen, Thomas van Overeem, Whitworth, James, Wood, Marie, Yip, Cheng Har, Yoon, Sook-Yee, Yussuf, Amal, Zogopoulos, George, Goldgar, David, Hopper, John L., Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587, Pharoah, Paul, George, Sophia H. L., Balmana, Judith, Houdayer, Claude, James, Paul ORCID: 0000-0002-4361-4657, El-Haffaf, Zaki, Ehrencrona, Hans ORCID: 0000-0002-5589-3622, Janatova, Marketa, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Nevanlinna, Heli, Schmutzler, Rita, Teo, Soo-Hwang, Robson, Mark, Pal, Tuya, Couch, Fergus, Weitzel, Jeffrey N., Elliott, Aaron, Southey, Melissa, Winqvist, Robert, Easton, Douglas F., Foulkes, William D., Antoniou, Antonis C. and Tischkowitz, Marc
(2020).
Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.
J. Clin. Oncol., 38 (7).
S. 674 - 688.
ALEXANDRIA:
AMER SOC CLINICAL ONCOLOGY.
ISSN 1527-7755