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Items: 10

1.
María Isabel Álvarez-Mora, Aurora Sánchez, Laia Rodríguez-Revenga, Jordi Corominas, Raquel Rabionet, Susana Puig, Irene Madrigal
Orphanet J Rare Dis. 2022; 17: 60. Published online 2022 Feb 19. doi: 10.1186/s13023-022-02213-z
PMCID:
PMC8858550
2.
Marjolein J. A. Weerts, Kristina Lanko, Francisco J. Guzmán-Vega, Adam Jackson, Reshmi Ramakrishnan, Kelly J. Cardona-Londoño, Karla A. Peña-Guerra, Yolande van Bever, Barbara W. van Paassen, Anneke Kievit, Marjon van Slegtenhorst, Nicholas M. Allen, Caroline M. Kehoe, Hannah K. Robinson, Lewis Pang, Selina H. Banu, Mashaya Zaman, Stephanie Efthymiou, Henry Houlden, Irma Järvelä, Leena Lauronen, Tuomo Määttä, Isabelle Schrauwen, Suzanne M. Leal, Claudia A. L. Ruivenkamp, Daniela Q.C.M. Barge-Schaapveld, Cacha M. P. C. D. Peeters-Scholte, Hamid Galehdari, Neda Mazaheri, Sanjay M. Sisodiya, Victoria Harrison, Angela Sun, Jenny Thies, Luis Alberto Pedroza, Yana Lara-Taranchenko, Ivan K. Chinn, James R. Lupski, Alexandra Garza-Flores, Jeffery McGlothlin, Lin Yang, Shaoping Huang, Xiaodong Wang, Tamison Jewett, Gretchen Rosso, Xi Lin, Shehla Mohammed, J. Lawrence Merritt, II, Ghayda M. Mirzaa, Andrew E. Timms, Joshua Scheck, Mariet W. Elting, Abeltje M. Polstra, Lauren Schenck, Maura R. Z. Ruzhnikov, Annalisa Vetro, Martino Montomoli, Renzo Guerrini, Daniel C. Koboldt, Theresa Mihalic Mosher, Matthew T. Pastore, Kim L. McBride, Jing Peng, Zou Pan, Marjolein Willemsen, Susanne Koning, Peter D. Turnpenny, Bert B. A. de Vries, Christian Gilissen, Rolph Pfundt, Melissa Lees, Stephen R. Braddock, Kara C. Klemp, Fleur Vansenne, Marielle E. van Gijn, Catherine Quindipan, Matthew A. Deardorff, J. Austin Hamm, Abbey M. Putnam, Rebecca Baud, Laurence Walsh, Sally A. Lynch, Julia Baptista, Richard E. Person, Kristin G. Monaghan, Amy Crunk, Jennifer Keller-Ramey, Adi Reich, Houda Zghal Elloumi, Marielle Alders, Jennifer Kerkhof, Haley McConkey, Sadegheh Haghshenas, Genomics England Research Consortium, Reza Maroofian, Bekim Sadikovic, Siddharth Banka, Stefan T. Arold, Tahsin Stefan Barakat
Genet Med. 2021; 23(11): 2122–2137. Published online 2021 Aug 3. doi: 10.1038/s41436-021-01246-2
PMCID:
PMC8553606
3.
I. M. Krzyzewska, S. M. Maas, P. Henneman, K. v. d. Lip, A. Venema, K. Baranano, A. Chassevent, E. Aref-Eshghi, A. J. van Essen, T. Fukuda, H. Ikeda, M. Jacquemont, H.-G. Kim, A. Labalme, S. M. E. Lewis, G. Lesca, I. Madrigal, S. Mahida, N. Matsumoto, R. Rabionet, E. Rajcan-Separovic, Y. Qiao, B. Sadikovic, H. Saitsu, D. A. Sweetser, M. Alders, M. M. A. M. Mannens
Clin Epigenetics. 2019; 11: 156. Published online 2019 Nov 4. doi: 10.1186/s13148-019-0749-3
PMCID:
PMC6830011
4.
Takuya Hiraide, Ayako Hattori, Daisuke Ieda, Ikumi Hori, Shinji Saitoh, Mitsuko Nakashima, Hirotomo Saitsu
Epilepsia Open. 2019 Sep; 4(3): 476–481. Published online 2019 May 24. doi: 10.1002/epi4.12339
PMCID:
PMC6698685
5.
Weiwei Yang, Patricia Ernst
Curr Opin Hematol.
Published in final edited form as: Curr Opin Hematol. 2017 Jul; 24(4): 322–328. doi: 10.1097/MOH.0000000000000346
PMCID:
PMC5603181
6.
Anand K Sarma, Nabil Khandker, Lisa Kurczewski, Gretchen M Brophy
Neuropsychiatr Dis Treat. 2016; 12: 467–485. Published online 2016 Feb 24. doi: 10.2147/NDT.S80586
PMCID:
PMC4771397
7.
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
8.
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
9.
E. Chouery, N. Choucair, J. Abou Ghoch, S. El Sabbagh, S. Corbani, A. Mégarbané
Mol Syndromol. 2013 Mar; 4(3): 136–142. Published online 2013 Jan 15. doi: 10.1159/000346473
PMCID:
PMC3638924
10.
E. Baple, R. Palmer, R.C.M. Hennekam
Mol Syndromol. 2010 Feb; 1(1): 42–45. Published online 2010 Jan 11. doi: 10.1159/000275671
PMCID:
PMC2883851

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