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Items: 10

1.
Lisa Lenaerts, Sara Reynhout, Iris Verbinnen, Frédéric Laumonnier, Annick Toutain, Frédérique Bonnet-Brilhault, Yana Hoorne, Shelagh Joss, Anna K. Chassevent, Constance Smith-Hicks, Bart Loeys, Pascal Joset, Katharina Steindl, Anita Rauch, Sarju G. Mehta, Wendy K. Chung, Koenraad Devriendt, Susan E. Holder, Tamison Jewett, Lauren M. Baldwin, William G. Wilson, Shelley Towner, Siddharth Srivastava, Hannah F. Johnson, Cornelia Daumer-Haas, Martina Baethmann, Anna Ruiz, Elisabeth Gabau, Vani Jain, Vinod Varghese, Ali Al-Beshri, Stephen Fulton, Oded Wechsberg, Naama Orenstein, Katrina Prescott, Anne-Marie Childs, Laurence Faivre, Sébastien Moutton, Jennifer A. Sullivan, Vandana Shashi, Suzanne M. Koudijs, Malou Heijligers, Emma Kivuva, Amy McTague, Alison Male, Yvette van Ierland, Barbara Plecko, Isabelle Maystadt, Rizwan Hamid, Vickie L. Hannig, Gunnar Houge, Veerle Janssens
Genet Med. 2021; 23(2): 352–362. Published online 2020 Oct 27. doi: 10.1038/s41436-020-00981-2
PMCID:
PMC7862067
2.
Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper
Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3
PMCID:
PMC7497289
3.
Sónia Barbosa, Stephanie Greville-Heygate, Maxime Bonnet, Annie Godwin, Christine Fagotto-Kaufmann, Andrey V. Kajava, Damien Laouteouet, Rebecca Mawby, Htoo Aung Wai, Alexander J.M. Dingemans, Jayne Hehir-Kwa, Marjorlaine Willems, Yline Capri, Sarju G. Mehta, Helen Cox, David Goudie, Fleur Vansenne, Peter Turnpenny, Marie Vincent, Benjamin Cogné, Gaëtan Lesca, Jozef Hertecant, Diana Rodriguez, Boris Keren, Lydie Burglen, Marion Gérard, Audrey Putoux, C4RCD Research Group, Vincent Cantagrel, Karine Siquier-Pernet, Marlene Rio, Siddharth Banka, Ajoy Sarkar, Marcie Steeves, Michael Parker, Emma Clement, Sébastien Moutton, Frédéric Tran Mau-Them, Amélie Piton, Bert B.A. de Vries, Matthew Guille, Anne Debant, Susanne Schmidt, Diana Baralle
Am J Hum Genet. 2020 Mar 5; 106(3): 338–355. Published online 2020 Feb 27. doi: 10.1016/j.ajhg.2020.01.018
PMCID:
PMC7058823
4.
Yanghui Zhang, Haoxian Li, Hua Wang, Zhengjun Jia, Hui Xi, Xiao Mao
Neurosci Bull. 2020 Feb; 36(2): 179–182. Published online 2019 Sep 17. doi: 10.1007/s12264-019-00430-4
PMCID:
PMC6977796
5.
Alexandra Wallace, Paul Caruso, Amel Karaa
J Pediatr Genet. 2019 Dec; 8(4): 240–243. Published online 2019 Jun 12. doi: 10.1055/s-0039-1692414
PMCID:
PMC6824891
6.
Margot R.F. Reijnders, Nurhuda M. Ansor, Maria Kousi, Wyatt W. Yue, Perciliz L. Tan, Katie Clarkson, Jill Clayton-Smith, Ken Corning, Julie R. Jones, Wayne W.K. Lam, Grazia M.S. Mancini, Carlo Marcelis, Shehla Mohammed, Rolph Pfundt, Maian Roifman, Ronald Cohn, David Chitayat, Deciphering Developmental Disorders Study, Tom H. Millard, Nicholas Katsanis, Han G. Brunner, Siddharth Banka
Am J Hum Genet. 2017 Sep 7; 101(3): 466–477. Published online 2017 Sep 7. doi: 10.1016/j.ajhg.2017.08.007
PMCID:
PMC5591022
7.
Katrina Tatton-Brown, Chey Loveday, Shawn Yost, Matthew Clarke, Emma Ramsay, Anna Zachariou, Anna Elliott, Harriet Wylie, Anna Ardissone, Olaf Rittinger, Fiona Stewart, I. Karen Temple, Trevor Cole, Childhood Overgrowth Collaboration, Shazia Mahamdallie, Sheila Seal, Elise Ruark, Nazneen Rahman
Am J Hum Genet. 2017 May 4; 100(5): 725–736. Published online 2017 May 4. doi: 10.1016/j.ajhg.2017.03.010
PMCID:
PMC5420355
8.
Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles
Nat Genet.
Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469
PMCID:
PMC4731925
9.
Gunnar Houge, Dorien Haesen, Lisenka E.L.M. Vissers, Sarju Mehta, Michael J. Parker, Michael Wright, Julie Vogt, Shane McKee, John L. Tolmie, Nuno Cordeiro, Tjitske Kleefstra, Marjolein H. Willemsen, Margot R.F. Reijnders, Siren Berland, Eli Hayman, Eli Lahat, Eva H. Brilstra, Koen L.I. van Gassen, Evelien Zonneveld-Huijssoon, Charlotte I. de Bie, Alexander Hoischen, Evan E. Eichler, Rita Holdhus, Vidar M. Steen, Stein Ove Døskeland, Matthew E. Hurles, David R. FitzPatrick, the Deciphering Developmental Disorders (DDD) study, Veerle Janssens
J Clin Invest. 2015 Aug 3; 125(8): 3051–3062. Published online 2015 Jul 13. doi: 10.1172/JCI79860
PMCID:
PMC4623570
10.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm
Genet Med.
Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30
PMCID:
PMC4544753

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