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Items: 4

1.
Dmitrijs Rots, Taryn E. Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Rolph Pfundt, Bert B.A. de Vries, Richard H. van Jaarsveld, Saskia M.J. Hopman, Ellen van Binsbergen, Irene Valenzuela, Maja Hempel, Tatjana Bierhals, Fanny Kortüm, Francois Lecoquierre, Alice Goldenberg, Jens Michael Hertz, Charlotte Brasch Andersen, Maria Kibæk, Eloise J. Prijoles, Roger E. Stevenson, David B. Everman, Wesley G. Patterson, Linyan Meng, Charul Gijavanekar, Karl De Dios, Shenela Lakhani, Tess Levy, Matias Wagner, Dagmar Wieczorek, Paul J. Benke, María Soledad Lopez Garcia, Renee Perrier, Sergio B. Sousa, Pedro M. Almeida, Maria José Simões, Bertrand Isidor, Wallid Deb, Andrew A. Schmanski, Omar Abdul-Rahman, Christophe Philippe, Ange-Line Bruel, Laurence Faivre, Antonio Vitobello, Christel Thauvin, Jeroen J. Smits, Livia Garavelli, Stefano G. Caraffi, Francesca Peluso, Laura Davis-Keppen, Dylan Platt, Erin Royer, Lisette Leeuwen, Margje Sinnema, Alexander P.A. Stegmann, Constance T.R.M. Stumpel, George E. Tiller, Daniëlle G.M. Bosch, Stephanus T. Potgieter, Shelagh Joss, Miranda Splitt, Simon Holden, Matina Prapa, Nicola Foulds, Sofia Douzgou, Kaija Puura, Regina Waltes, Andreas G. Chiocchetti, Christine M. Freitag, F. Kyle Satterstrom, Silvia De Rubeis, Joseph Buxbaum, Bruce D. Gelb, Aleksic Branko, Itaru Kushima, Jennifer Howe, Stephen W. Scherer, Alessia Arado, Chiara Baldo, Olivier Patat, Demeer Bénédicte, Diego Lopergolo, Filippo M. Santorelli, Tobias B. Haack, Andreas Dufke, Miriam Bertrand, Ruth J. Falb, Angelika Rieß, Peter Krieg, Stephanie Spranger, Maria Francesca Bedeschi, Maria Iascone, Sarah Josephi-Taylor, Tony Roscioli, Michael F. Buckley, Jan Liebelt, Aditi I. Dagli, Emmelien Aten, Anna C.E. Hurst, Alesha Hicks, Mohnish Suri, Ermal Aliu, Sunil Naik, Richard Sidlow, Juliette Coursimault, Gaël Nicolas, Hanna Küpper, Florence Petit, Veyan Ibrahim, Deniz Top, Francesca Di Cara, Genomics England Research Consortium, Raymond J. Louie, Elliot Stolerman, Han G. Brunner, Lisenka E.L.M. Vissers, Jamie M. Kramer, Tjitske Kleefstra
Am J Hum Genet. 2023 Jun 1; 110(6): 963–978. Published online 2023 May 16. doi: 10.1016/j.ajhg.2023.04.008
PMCID:
PMC10257005
2.
Audrey Schalk, Margot A. Cousin, Nikita R. Dsouza, Thomas D. Challman, Karen E. Wain, Zöe Powis, Kelly Minks, Aurélien Trimouille, Eulalie Lasseaux, Didier Lacombe, Chloé Angelini, Vincent Michaud, Julien Van-Gils, Nino Spataro, Anna Ruiz, Elizabeth Gabau, Elliot Stolerman, Camerun Washington, Raymond J. Louie, Brendan C Lanpher, Jennifer L. Kemppainen, A. Micheil Innes, R. Frank Kooy, Marije Meuwissen, Alice Goldenberg, François Lecoquierre, Gabriella Vera, Karin E M Diderich, Beth Rosen Sheidley, Christelle Moufawad El Achkar, Meredith Park, Fadi F. Hamdan, Jacques L. Michaud, Ann J. Lewis, Christiane Zweier, André Reis, Matias Wagner, Heike Weigand, Hubert Journel, Boris Keren, Sandrine Passemard, Cyril Mignot, Koen L.I. van Gassen, Eva H. Brilstra, Gina Itzikowitz, Emily O’Heir, Jake Allen, Kirsten A. Donald, Bruce R. Korf, Tammi Skelton, Michelle L Thompson, Nathaniel H. Robin, Natasha Rudy, William B. Dobyns, Kimberly Foss, Yuri A Zarate, Katherine A. Bosanko, Yves Alembik, Benjamin Durand, Frédéric Tran Mau-Them, Emmanuelle Ranza, Xavier Blanc, Stylianos E. Antonarakis, Kirsty McWalter, Erin Torti, Francisca Millan, Amy Dameron, Mari J. Tokita, Michael T. Zimmermann, Eric W. Klee, Amélie Piton, Bénédicte Gerard
J Med Genet.
Published in final edited form as: J Med Genet. 2022 Oct; 59(10): 965–975. Published online 2021 Dec 15. doi: 10.1136/jmedgenet-2021-107751
PMCID:
PMC9241146
3.
Sukhleen Kour, Deepa S. Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong-Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S. Stolerman, Sarah S. Barnett, Margot A. Cousin, Diana Castro, Kimberly McDonald, Brian Kirmse, Andrea H. Nemeth, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, Isabelle Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja K. Selmer, Roser Urreizti, Alberto Garcia-Oguiza, Andrés Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah R. McCurry, John E. Landers, Sameer Agnihotri, E. Corina Andriescu, Shade B. Moody, Chanika Phornphutkul, Maria J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik-Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, Udai Bhan Pandey
Nat Commun. 2021; 12: 2558. Published online 2021 May 7. doi: 10.1038/s41467-021-22627-w
PMCID:
PMC8105379
4.
Christopher C Y Mak, Dan Doherty, Angela E Lin, Nancy Vegas, Megan T Cho, Géraldine Viot, Clémantine Dimartino, James D Weisfeld-Adams, Davor Lessel, Shelagh Joss, Chumei Li, Claudia Gonzaga-Jauregui, Yuri A Zarate, Nadja Ehmke, Denise Horn, Caitlin Troyer, Sarina G Kant, Youngha Lee, Gisele E Ishak, Gordon Leung, Amanda Barone Pritchard, Sandra Yang, Eric G Bend, Francesca Filippini, Chelsea Roadhouse, Nicolas Lebrun, Michele G Mehaffey, Pierre-Marie Martin, Benjamin Apple, Francisca Millan, Oliver Puk, Mariette J V Hoffer, Lindsay B Henderson, Ruth McGowan, Ingrid M Wentzensen, Steven Pei, Farah R Zahir, Mullin Yu, William T Gibson, Ann Seman, Marcie Steeves, Jill R Murrell, Sabine Luettgen, Elizabeth Francisco, Tim M Strom, Louise Amlie-Wolf, Angela M Kaindl, William G Wilson, Sara Halbach, Lina Basel-Salmon, Noa Lev-El, Jonas Denecke, Lisenka E L M Vissers, Kelly Radtke, Jamel Chelly, Elaine Zackai, Jan M Friedman, Michael J Bamshad, Deborah A Nickerson, University of Washington Center for Mendelian Genomics, Russell R Reid, Koenraad Devriendt, Jong-Hee Chae, Elliot Stolerman, Carey McDougall, Zöe Powis, Thierry Bienvenu, Tiong Y Tan, Naama Orenstein, William B Dobyns, Joseph T Shieh, Murim Choi, Darrel Waggoner, Karen W Gripp, Michael J Parker, Joan Stoler, Stanislas Lyonnet, Valérie Cormier-Daire, David Viskochil, Trevor L Hoffman, Jeanne Amiel, Brian H Y Chung, Christopher T Gordon
Brain. 2020 Jan; 143(1): 55–68. Published online 2019 Dec 13. doi: 10.1093/brain/awz379
PMCID:
PMC7962909

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