المؤلفون: Dias, Kerith-Rae, Shrestha, Rupendra, Schofield, Deborah, Evans, Carey-Anne, O’Heir, Emily, Zhu, Ying, Zhang, Futao, Standen, Krystle, Weisburd, Ben, Stenton, Sarah L., Sanchis-Juan, Alba, Brand, Harrison, Talkowski, Michael E., Ma, Alan, Ghedia, Sondy, Wilson, Meredith, Sandaradura, Sarah A., Smith, Janine, Kamien, Benjamin, Turner, Anne, Bakshi, Madhura, Adès, Lesley C., Mowat, David, Regan, Matthew, McGillivray, George, Savarirayan, Ravi, White, Susan M., Tan, Tiong Yang, Stark, Zornitza, Brown, Natasha J., Pérez-Jurado, Luis A., Krzesinski, Emma, Hunter, Matthew F., Akesson, Lauren, Fennell, Andrew Paul, Yeung, Alison, Boughtwood, Tiffany, Ewans, Lisa J., Kerkhof, Jennifer, Lucas, Christopher, Carey, Louise, French, Hugh, Rapadas, Melissa, Stevanovski, Igor, Deveson, Ira W., Cliffe, Corrina, Elakis, George, Kirk, Edwin P., Dudding-Byth, Tracy, Fletcher, Janice, Walsh, Rebecca, Corbett, Mark A., Kroes, Thessa, Gecz, Jozef, Meldrum, Cliff, Cliffe, Simon, Wall, Meg, Lunke, Sebastian, North, Kathryn, Amor, David J., Field, Michael, Sadikovic, Bekim, Buckley, Michael F., O’Donnell-Luria, Anne, Roscioli, Tony

المصدر: In Genetics in Medicine May 2024 26(5)

المؤلفون: Shepherdson, James L., Hutchison, Katie, Don, Dilan Wellalage, McGillivray, George, Choi, Tae-Ik, Allan, Carolyn A., Amor, David J., Banka, Siddharth, Basel, Donald G., Buch, Laura D., Carere, Deanna Alexis, Carroll, Renée, Clayton-Smith, Jill, Crawford, Ali, Dunø, Morten, Faivre, Laurence, Gilfillan, Christopher P., Gold, Nina B., Gripp, Karen W., Hobson, Emma, Holtz, Alexander M., Innes, A. Micheil, Isidor, Bertrand, Jackson, Adam, Katsonis, Panagiotis, Amel Riazat Kesh, Leila, Küry, Sébastien, Lecoquierre, François, Lockhart, Paul, Maraval, Julien, Matsumoto, Naomichi, McCarrier, Julie, McCarthy, Josephine, Miyake, Noriko, Moey, Lip Hen, Németh, Andrea H., Østergaard, Elsebet, Patel, Rushina, Pope, Kate, Posey, Jennifer E., Schnur, Rhonda E., Shaw, Marie, Stolerman, Elliot, Taylor, Julie P., Wadman, Erin, Wakeling, Emma, White, Susan M., Wong, Lawrence C., Lupski, James R., Lichtarge, Olivier, Corbett, Mark A., Gecz, Jozef, Nicolet, Charles M., Farnham, Peggy J., Kim, Cheol-Hee, Shinawi, Marwan

المصدر: In The American Journal of Human Genetics 7 March 2024 111(3):487-508

المؤلفون: Byrne, Alicia B.^{Aff1, Aff2, Aff3}, Arts, Peer^{Aff1, Aff4}, Ha, Thuong T.^{Aff1, Aff5}, Kassahn, Karin S.^{Aff4, Aff6}, Pais, Lynn S., O’Donnell-Luria, Anne^{Aff3, Aff7}, Babic, Milena, Frank, Mahalia S. B., Feng, Jinghua^{Aff2, Aff5}, Wang, Paul, Lawrence, David M.^{Aff5, Aff6}, Eshraghi, Leila, Arriola, Luis^{Aff1, Aff5}, Toubia, John, Nguyen, Hung, McGillivray, George, Pinner, Jason^{Aff9, Aff10}, McKenzie, Fiona^{Aff11, Aff12}, Morrow, Rebecca^{Aff1, Aff13}, Lipsett, Jill, Manton, Nick, Khong, T. Yee^{Aff4, Aff13}, Moore, Lynette^{Aff4, Aff13}, Liebelt, Jan E.^{Aff4, Aff14, Aff15}, Schreiber, Andreas W.^{Aff2, Aff5, Aff16}, King-Smith, Sarah L.^{Aff1, Aff17}, Hardy, Tristan S. E.^{Aff4, Aff6, Aff15}, Jackson, Matilda R.^{Aff1, Aff17}, Barnett, Christopher P.^{Aff4, Aff14, IDs41591023024871_cor31}, Scott, Hamish S.^{Aff1, Aff2, Aff4, Aff5, Aff6, Aff17, IDs41591023024871_cor32}

المصدر: Nature Medicine. 30(1):302-302

المؤلفون: Byrne, Alicia B.^{Aff1, Aff2, Aff3}, Arts, Peer^{Aff1, Aff4}, Ha, Thuong T.^{Aff1, Aff5}, Kassahn, Karin S.^{Aff4, Aff6}, Pais, Lynn S., O’Donnell-Luria, Anne^{Aff3, Aff7}, Babic, Milena, Frank, Mahalia S. B., Feng, Jinghua^{Aff2, Aff5}, Wang, Paul, Lawrence, David M.^{Aff5, Aff6}, Eshraghi, Leila, Arriola, Luis^{Aff1, Aff5}, Toubia, John, Nguyen, Hung, McGillivray, George, Pinner, Jason^{Aff9, Aff10}, McKenzie, Fiona^{Aff11, Aff12}, Morrow, Rebecca^{Aff1, Aff13}, Lipsett, Jill, Manton, Nick, Khong, T. Yee^{Aff4, Aff13}, Moore, Lynette^{Aff4, Aff13}, Liebelt, Jan E.^{Aff4, Aff14, Aff15}, Schreiber, Andreas W.^{Aff2, Aff5, Aff16}, King-Smith, Sarah L.^{Aff1, Aff17}, Hardy, Tristan S. E.^{Aff4, Aff6, Aff15}, Jackson, Matilda R.^{Aff1, Aff17}, Barnett, Christopher P.^{Aff4, Aff14, IDs41591022021421_cor31}, Scott, Hamish S.^{Aff1, Aff2, Aff4, Aff5, Aff6, Aff17, IDs41591022021421_cor32}

المصدر: Nature Medicine. 29(1):180-189

المؤلفون: Wallis, Mathew^{Aff1, Aff9, Aff10}, Bodek, Simon D.^{Aff1, Aff16, IDs13023024032975_cor2}, Munro, Jacob^{Aff2, Aff3}, Rafehi, Haloom^{Aff2, Aff3}, Bennett, Mark F.^{Aff2, Aff3, Aff4}, Ye, Zimeng, Schneider, Amy, Gardiner, Fiona, Valente, Giulia, Murdoch, Emma, Uebergang, Eloise^{Aff1, Aff7}, Hunter, Jacquie, Stutterd, Chloe^{Aff1, Aff6, Aff7, Aff8}, Huq, Aamira^{Aff1, Aff18}, Salmon, Lucinda^{Aff1, Aff11}, Scheffer, Ingrid^{Aff1, Aff4, Aff5}, Eratne, Dhamidhu^{Aff1, Aff4, Aff12}, Meyn, Stephen, Fong, Chun Y., John, Tom^{Aff1, Aff16, Aff19}, Mullen, Saul^{Aff1, Aff4}, White, Susan M.^{Aff6, Aff7, Aff8}, Brown, Natasha J.^{Aff6, Aff7, Aff8}, McGillivray, George^{Aff6, Aff13}, Chen, Jesse, Richmond, Chris, Hughes, Andrew^{Aff1, Aff16}, Krzesinski, Emma, Fennell, Andrew^{Aff1, Aff17}, Chambers, Brian^{Aff1, Aff16}, Santoreneos, Renee^{Aff1, Aff6}, Le Fevre, Anna^{Aff1, Aff2, Aff6}, Hildebrand, Michael S., Bahlo, Melanie^{Aff2, Aff3}, Christodoulou, John^{Aff6, Aff7, Aff8}, Delatycki, Martin^{Aff1, Aff6, Aff7, Aff8}, Berkovic, Samuel F.^{Aff1, Aff4}

المصدر: Orphanet Journal of Rare Diseases. 19(1)

المؤلفون: Frazier, Ann E., Compton, Alison G., Kishita, Yoshihito, Hock, Daniella H., Welch, AnneMarie E., Amarasekera, Sumudu S.C., Rius, Rocio, Formosa, Luke E., Imai-Okazaki, Atsuko, Francis, David, Wang, Min, Lake, Nicole J., Tregoning, Simone, Jabbari, Jafar S., Lucattini, Alexis, Nitta, Kazuhiro R., Ohtake, Akira, Murayama, Kei, Amor, David J., McGillivray, George, Wong, Flora Y., van der Knaap, Marjo S., Vermeulen, R. Jeroen, Wiltshire, Esko J., Fletcher, Janice M., Lewis, Barry, Baynam, Gareth, Ellaway, Carolyn, Balasubramaniam, Shanti, Bhattacharya, Kaustuv, Freckmann, Mary-Louise, Arbuckle, Susan, Rodriguez, Michael, Taft, Ryan J., Sadedin, Simon, Cowley, Mark J., Minoche, André E., Calvo, Sarah E., Mootha, Vamsi K., Ryan, Michael T., Okazaki, Yasushi, Stroud, David A., Simons, Cas, Christodoulou, John, Thorburn, David R.

المصدر: In Med 15 January 2021 2(1):49-73

المؤلفون: Marsh, Ashley PL, Heron, Delphine, Edwards, Timothy J, Quartier, Angélique, Galea, Charles, Nava, Caroline, Rastetter, Agnès, Moutard, Marie-Laure, Anderson, Vicki, Bitoun, Pierre, Bunt, Jens, Faudet, Anne, Garel, Catherine, Gillies, Greta, Gobius, Ilan, Guegan, Justine, Heide, Solveig, Keren, Boris, Lesne, Fabien, Lukic, Vesna, Mandelstam, Simone A, McGillivray, George, McIlroy, Alissandra, Méneret, Aurélie, Mignot, Cyril, Morcom, Laura R, Odent, Sylvie, Paolino, Annalisa, Pope, Kate, Riant, Florence, Robinson, Gail A, Spencer-Smith, Megan, Srour, Myriam, Stephenson, Sarah EM, Tankard, Rick, Trouillard, Oriane, Welniarz, Quentin, Wood, Amanda, Brice, Alexis, Rouleau, Guy, Attié-Bitach, Tania, Delatycki, Martin B, Mandel, Jean-Louis, Amor, David J, Roze, Emmanuel, Piton, Amélie, Bahlo, Melanie, Billette de Villemeur, Thierry, Sherr, Elliott H, Leventer, Richard J, Richards, Linda J, Lockhart, Paul J, Depienne, Christel

المصدر: Nature Genetics. 49(4)

مصطلحات موضوعية: Biological Sciences, Genetics, Clinical Research, Pediatric, Abnormalities, Multiple, Agenesis of Corpus Callosum, Brain, Corpus Callosum, DCC Receptor, Developmental Disabilities, Family, Female, Humans, Male, Mutation, Nervous System Malformations, Neural Stem Cells, Penetrance, Phenotype, Receptors, Cell Surface, Tumor Suppressor Proteins, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/89q47498

المؤلفون: Yeung, Alison^{Aff1, Aff2, Aff3}, Tan, Natalie B., Tan, Tiong Y.^{Aff1, Aff2, Aff3}, Stark, Zornitza^{Aff1, Aff2, Aff3}, Brown, Natasha^{Aff1, Aff3}, Hunter, Matthew F.^{Aff4, Aff5}, Delatycki, Martin^{Aff1, Aff3}, Stutterd, Chloe^{Aff1, Aff3}, Savarirayan, Ravi^{Aff1, Aff3}, Mcgillivray, George, Stapleton, Rachel, Kumble, Smitha, Downie, Lilian^{Aff1, Aff3}, Regan, Matthew^{Aff4, Aff5}, Lunke, Sebastian, Chong, Belinda, Phelan, Dean, Brett, Gemma R.^{Aff1, Aff2, Aff3}, Jarmolowicz, Anna^{Aff1, Aff2}, Prawer, Yael^{Aff2, Aff4, Aff5}, Valente, Giulia^{Aff2, Aff6}, Smagarinsky, Yana^{Aff1, Aff2}, Martyn, Melissa^{Aff2, Aff3, Aff7}, McEwan, Callum, Goranitis, Ilias^{Aff7, Aff8, Aff9}, Gaff, Clara^{Aff2, Aff3, Aff7}, White, Susan M.^{Aff1, Aff2, Aff3}

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(12):1986-1993

المؤلفون: Stutterd, Chloe A., Francis, David, McGillivray, George, Lockhart, Paul J., Leventer, Richard J.

المصدر: In European Journal of Medical Genetics April 2020 63(4)

المؤلفون: Sekiguchi, Futoshi, Tsurusaki, Yoshinori^{Aff1, Aff2}, Okamoto, Nobuhiko, Teik, Keng Wee, Mizuno, Seiji, Suzumura, Hiroshi, Isidor, Bertrand, Ong, Winnie Peitee, Haniffa, Muzhirah, White, Susan M.^{Aff8, Aff9}, Matsuo, Mari, Saito, Kayoko, Phadke, Shubha, Kosho, Tomoki, Yap, Patrick^{Aff13, Aff14}, Goyal, Manisha, Clarke, Lorne A., Sachdev, Rani, McGillivray, George, Leventer, Richard J., Patel, Chirag, Yamagata, Takanori, Osaka, Hitoshi, Hisaeda, Yoshiya, Ohashi, Hirofumi, Shimizu, Kenji, Nagasaki, Keisuke, Hamada, Junpei, Dateki, Sumito, Sato, Takashi, Chinen, Yasutsugu, Awaya, Tomonari^{Aff28, Aff29}, Kato, Takeo, Iwanaga, Kougoro, Kawai, Masahiko, Matsuoka, Takashi, Shimoji, Yoshikazu, Tan, Tiong Yang^{Aff8, Aff9}, Kapoor, Seema, Gregersen, Nerine, Rossi, Massimiliano, Marie-Laure, Mathieu, McGregor, Lesley, Oishi, Kimihiko, Mehta, Lakshmi, Gillies, Greta, Lockhart, Paul J., Pope, Kate, Shukla, Anju, Girisha, Katta Mohan, Abdel-Salam, Ghada M. H., Mowat, David, Coman, David, Kim, Ok Hwa, Cordier, Marie-Pierre, Gibson, Kate, Milunsky, Jeff, Liebelt, Jan, Cox, Helen, El Chehadeh, Salima, Toutain, Annick, Saida, Ken, Aoi, Hiromi^{Aff1, Aff48}, Minase, Gaku, Tsuchida, Naomi, Iwama, Kazuhiro, Uchiyama, Yuri^{Aff1, Aff49, Aff50}, Suzuki, Toshifumi^{Aff1, Aff48}, Hamanaka, Kohei, Azuma, Yoshiteru, Fujita, Atsushi, Imagawa, Eri^{Aff1, Aff34}, Koshimizu, Eriko, Takata, Atsushi, Mitsuhashi, Satomi, Miyatake, Satoko^{Aff1, Aff50}, Mizuguchi, Takeshi, Miyake, Noriko, Matsumoto, Naomichi^Aff1

المصدر: Journal of Human Genetics. 64(12):1173-1186