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The American Journal of Human Genetics, ISSN 0002-9297, 09/2019, Volume 105, Issue 3, pp. 493 - 508
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 4, pp. 435 - 439, S1-2
Journal Article
Clinical Genetics, ISSN 0009-9163, 09/2012, Volume 82, Issue 3, pp. 248 - 255
Journal Article
by Salpietro, V and Dixon, CL and Guo, H and Bello, OD and Vandrovcova, J and Efthymiou, S and Maroofian, R and Heimer, G and Burglen, L and Valence, S and Torti, E and Hacke, M and Rankin, J and Tariq, H and Colin, E and Procaccio, V and Striano, P and Mankad, K and Lieb, A and Chen, S and Pisani, L and Bettencourt, C and Mannikko, R and Manole, A and Brusco, A and Grosso, E and Ferrero, GB and Armstrong-Moron, J and Gueden, S and Bar-Yosef, O and Tzadok, M and Monaghan, KG and Santiago-Sim, T and Person, RE and Cho, MT and Willaert, R and Yoo, Y and Chae, JH and Quan, YT and Wu, HD and Wang, TY and Bernier, RA and Xia, K and Blesson, A and Jain, M and Motazacker, MM and Jaeger, B and Schneider, AL and Boysen, K and Muir, AM and Myers, CT and Gavrilova, RH and Gunderson, L and Schultz-Rogers, L and Klee, EW and Dyment, D and Osmond, M and Parellada, M and Llorente, C and Gonzalez-Penas, J and Carracedo, A and Van Haeringen, A and Ruivenkamp, C and Nava, C and Heron, D and Nardello, R and Iacomino, M and Minetti, C and Skabar, A and Fabretto, A and Chez, M and Tsai, A and Fassi, E and Shinawi, M and Constantino, JN and De Zorzi, R and Fortuna, S and Kok, F and Keren, B and Bonneau, D and Choi, M and Benzeev, B and Zara, F and Mefford, HC and Scheffer, IE and Clayton-Smith, J and Macaya, A and Rothman, JE and Eichler, EE and Kullmann, DM and Houlden, H and Raspall-Chaure, M and Hanna, MG and Bugiardini, E and Hostettler, I and O'Callaghan, B and Khan, A and Cortese, A and O'Connor, E and Yau, WY and ... and SYNAPS Study Grp and SYNAPS Study Group
NATURE COMMUNICATIONS, ISSN 2041-1723, 07/2019, Volume 10, Issue 1, pp. 3094 - 16
Journal Article
Journal Article
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 12, pp. 1375 - 1381
Journal Article
by Küry, Sébastien and van Woerden, Geeske M and Besnard, Thomas and Proietti Onori, Martina and Latypova, Xénia and Towne, Meghan C and Cho, Megan T and Prescott, Trine E and Ploeg, Melissa A and Sanders, Stephan and Stessman, Holly A.F and Pujol, Aurora and Distel, Ben and Robak, Laurie A and Bernstein, Jonathan A and Denommé-Pichon, Anne-Sophie and Lesca, Gaëtan and Sellars, Elizabeth A and Berg, Jonathan and Carré, Wilfrid and Busk, Øyvind Løvold and van Bon, Bregje W.M and Waugh, Jeff L and Deardorff, Matthew and Hoganson, George E and Bosanko, Katherine B and Johnson, Diana S and Dabir, Tabib and Holla, Øystein Lunde and Sarkar, Ajoy and Tveten, Kristian and de Bellescize, Julitta and Braathen, Geir J and Terhal, Paulien A and Grange, Dorothy K and van Haeringen, Arie and Lam, Christina and Mirzaa, Ghayda and Burton, Jennifer and Bhoj, Elizabeth J and Douglas, Jessica and Santani, Avni B and Nesbitt, Addie I and Helbig, Katherine L and Andrews, Marisa V and Begtrup, Amber and Tang, Sha and van Gassen, Koen L.I and Juusola, Jane and Foss, Kimberly and Enns, Gregory M and Moog, Ute and Hinderhofer, Katrin and Paramasivam, Nagarajan and Lincoln, Sharyn and Kusako, Brandon H and Lindenbaum, Pierre and Charpentier, Eric and Nowak, Catherine B and Cherot, Elouan and Simonet, Thomas and Ruivenkamp, Claudia A.L and Hahn, Sihoun and Brownstein, Catherine A and Xia, Fan and Schmitt, Sébastien and Deb, Wallid and Bonneau, Dominique and Nizon, Mathilde and Quinquis, Delphine and Chelly, Jamel and Rudolf, Gabrielle and Sanlaville, Damien and Parent, Philippe and Gilbert-Dussardier, Brigitte and Toutain, Annick and Sutton, Vernon R and Thies, Jenny and Peart-Vissers, Lisenka E.L.M and Boisseau, Pierre and Vincent, Marie and Grabrucker, Andreas M and Dubourg, Christèle and Tan, Wen-Hann and Verbeek, Nienke E and Granzow, Martin and Santen, Gijs W.E and Shendure, Jay and Isidor, Bertrand and Pasquier, Laurent and Redon, Richard and Yang, Yaping and State, Matthew W and Kleefstra, Tjitske and Cogné, Benjamin and Petrovski, Slavé and Retterer, Kyle and Eichler, Evan E and Rosenfeld, Jill A and Agrawal, Pankaj B and ... and Deciphering Dev Dis Study and Undiagnosed Dis Network and GEM HUGO and Deciphering Developmental Disorders Study and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 768 - 788
Journal Article
11.