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Items: 18

1.
Leora Witkowski, Mitchell W. Dillon, Elissa Murphy, Matthew S Lebo, Heather Mason‐Suares
Mol Genet Genomic Med. 2020 Apr; 8(4): e1180. Published online 2020 Feb 27. doi: 10.1002/mgg3.1180
PMCID:
PMC7196473
2.
Iwei Yeh, Eric Jorgenson, Ling Shen, Mengshu Xu, Jeffrey P North, A Hunter Shain, David Reuss, Hong Wu, William A Robinson, Adam Olshen, Andreas von Deimling, Pui-Yan Kwok, Boris C Bastian, Maryam M Asgari
J Natl Cancer Inst. 2019 Oct; 111(10): 1068–1077. Published online 2019 Jan 18. doi: 10.1093/jnci/djz005
PMCID:
PMC6792090
3.
Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D. Hicks, Arthur S. Aylsworth, Amedeo A. Azizi, Donald G. Basel, Gary Bellus, Lynne M. Bird, Maria A. Blazo, Leah W. Burke, Ashley Cannon, Felicity Collins, Colette DeFilippo, Ellen Denayer, Maria C. Digilio, Shelley K. Dills, Laura Dosa, Robert S. Greenwood, Cristin Griffis, Punita Gupta, Rachel K. Hachen, Concepción Hernández-Chico, Sandra Janssens, Kristi J. Jones, Justin T. Jordan, Peter Kannu, Bruce R. Korf, Andrea M. Lewis, Robert H. Listernick, Fortunato Lonardo, Maurice J. Mahoney, Mayra Martinez Ojeda, Marie T. McDonald, Carey McDougall, Nancy Mendelsohn, David T. Miller, Mari Mori, Rianne Oostenbrink, Sebastién Perreault, Mary Ella Pierpont, Carmelo Piscopo, Dinel A. Pond, Linda M. Randolph, Katherine A. Rauen, Surya Rednam, S. Lane Rutledge, Veronica Saletti, G. Bradley Schaefer, Elizabeth K. Schorry, Daryl A. Scott, Andrea Shugar, Elizabeth Siqveland, Lois J. Starr, Ashraf Syed, Pamela L. Trapane, Nicole J. Ullrich, Emily G. Wakefield, Laurence E. Walsh, Michael F. Wangler, Elaine Zackai, Kathleen B. M. Claes, Katharina Wimmer, Rick van Minkelen, Alessandro De Luca, Yolanda Martin, Eric Legius, Ludwine M. Messiaen
Genet Med. 2019; 21(4): 867–876. Published online 2018 Sep 7. doi: 10.1038/s41436-018-0269-0
PMCID:
PMC6752285
4.
Teresa Giugliano, Claudia Santoro, Annalaura Torella, Francesca Del Vecchio Blanco, Anna Grandone, Maria Elena Onore, Mariarosa Anna Beatrice Melone, Giulia Straccia, Daniela Melis, Vincenzo Piccolo, Giuseppe Limongelli, Salvatore Buono, Silverio Perrotta, Vincenzo Nigro, Giulio Piluso
Genes (Basel) 2019 Aug; 10(8): 580. Published online 2019 Jul 31. doi: 10.3390/genes10080580
PMCID:
PMC6722641
5.
Felicity Newell, Yan Kong, James S. Wilmott, Peter A. Johansson, Peter M. Ferguson, Chuanliang Cui, Zhongwu Li, Stephen H. Kazakoff, Hazel Burke, Tristan J. Dodds, Ann-Marie Patch, Katia Nones, Varsha Tembe, Ping Shang, Louise van der Weyden, Kim Wong, Oliver Holmes, Serigne Lo, Conrad Leonard, Scott Wood, Qinying Xu, Robert V. Rawson, Pamela Mukhopadhyay, Reinhard Dummer, Mitchell P. Levesque, Göran Jönsson, Xuan Wang, Iwei Yeh, Hong Wu, Nancy Joseph, Boris C. Bastian, Georgina V. Long, Andrew J. Spillane, Kerwin F. Shannon, John F. Thompson, Robyn P. M. Saw, David J. Adams, Lu Si, John V. Pearson, Nicholas K. Hayward, Nicola Waddell, Graham J. Mann, Jun Guo, Richard A. Scolyer
Nat Commun. 2019; 10: 3163. Published online 2019 Jul 18. doi: 10.1038/s41467-019-11107-x
PMCID:
PMC6639323
6.
Julien Ablain, Mengshu Xu, Harriet Rothschild, Richard C. Jordan, Jeffrey K. Mito, Brianne H. Daniels, Caitlin F. Bell, Nancy M. Joseph, Hong Wu, Boris C. Bastian, Leonard I. Zon, Iwei Yeh
Science.
Published in final edited form as: Science. 2018 Nov 30; 362(6418): 1055–1060. Published online 2018 Nov 1. doi: 10.1126/science.aau6509
PMCID:
PMC6475924
7.
Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Yunjia Chen, Ying Liu, Meagan Cochran, Mary‐Alice Abbott, Joan Atkin, Dusica Babovic‐Vuksanovic, Christopher P. Barnett, Melissa Crenshaw, Dennis W. Bartholomew, Lina Basel, Gary Bellus, Shay Ben‐Shachar, Martin G. Bialer, David Bick, Bruce Blumberg, Fanny Cortes, Karen L. David, Anne Destree, Anna Duat‐Rodriguez, Dawn Earl, Luis Escobar, Marthanda Eswara, Begona Ezquieta, Ian M. Frayling, Moshe Frydman, Kathy Gardner, Karen W. Gripp, Concepcion Hernández‐Chico, Kurt Heyrman, Jennifer Ibrahim, Sandra Janssens, Beth A Keena, Isabel Llano‐Rivas, Kathy Leppig, Marie McDonald, Vinod K. Misra, Jennifer Mulbury, Vinodh Narayanan, Naama Orenstein, Patricia Galvin‐Parton, Helio Pedro, Eniko K. Pivnick, Cynthia M. Powell, Linda Randolph, Salmo Raskin, Jordi Rosell, Karol Rubin, Margretta Seashore, Christian P. Schaaf, Angela Scheuerle, Meredith Schultz, Elizabeth Schorry, Rhonda Schnur, Elizabeth Siqveland, Amanda Tkachuk, James Tonsgard, Meena Upadhyaya, Ishwar C. Verma, Stephanie Wallace, Charles Williams, Elaine Zackai, Jonathan Zonana, Conxi Lazaro, Kathleen Claes, Bruce Korf, Yolanda Martin, Eric Legius, Ludwine Messiaen
Hum Mutat. 2015 Nov; 36(11): 1052–1063. Published online 2015 Aug 21. doi: 10.1002/humu.22832
PMCID:
PMC5049609
8.
Theresia Dunzendorfer-Matt, Ellen L. Mercado, Karl Maly, Frank McCormick, Klaus Scheffzek
Proc Natl Acad Sci U S A. 2016 Jul 5; 113(27): 7497–7502. Published online 2016 Jun 16. doi: 10.1073/pnas.1607298113
PMCID:
PMC4941445
9.
D.G. Evans, N. Bowers, E. Burkitt-Wright, E. Miles, S. Garg, V. Scott-Kitching, M. Penman-Splitt, A. Dobbie, E. Howard, J. Ealing, G. Vassalo, A.J. Wallace, W. Newman, Northern UK NF1 Research Network, S.M. Huson
EBioMedicine. 2016 May; 7: 212–220. Published online 2016 Apr 13. doi: 10.1016/j.ebiom.2016.04.005
PMCID:
PMC4909377
10.
Yasuko Hirata, Hilde Brems, Mayu Suzuki, Mitsuhiro Kanamori, Masahiro Okada, Rimpei Morita, Isabel Llano-Rivas, Toyoyuki Ose, Ludwine Messiaen, Eric Legius, Akihiko Yoshimura
J Biol Chem. 2016 Feb 12; 291(7): 3124–3134. Published online 2015 Dec 3. doi: 10.1074/jbc.M115.703710
PMCID:
PMC4751360
11.
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
12.
Eric Pasmant, Béatrice Parfait, Armelle Luscan, Philippe Goussard, Audrey Briand-Suleau, Ingrid Laurendeau, Corinne Fouveaut, Chrystel Leroy, Annelore Montadert, Pierre Wolkenstein, Michel Vidaud, Dominique Vidaud
Eur J Hum Genet. 2015 May; 23(5): 596–601. Published online 2014 Jul 30. doi: 10.1038/ejhg.2014.145
PMCID:
PMC4402624
13.
Elisa Benelli, Irene Bruno, Chiara Belcaro, Alessandro Ventura, Irene Berti
Ital J Pediatr. 2015; 41: 8. Published online 2015 Feb 8. doi: 10.1186/s13052-015-0115-9
PMCID:
PMC4323213
14.
Irma B. Stowe, Ellen L. Mercado, Timothy R. Stowe, Erika L. Bell, Juan A. Oses-Prieto, Hilda Hernández, Alma L. Burlingame, Frank McCormick
Genes Dev. 2012 Jul 1; 26(13): 1421–1426. doi: 10.1101/gad.190876.112
PMCID:
PMC3403010
15.
Talia M Muram-Zborovski, David A Stevenson, David H Viskochil, David C Dries, Andrew R Wilson, Rong Mao
J Child Neurol.
Published in final edited form as: J Child Neurol. 2010 Oct; 25(10): 1203–1209. Published online 2010 Feb 22. doi: 10.1177/0883073809359540
PMCID:
PMC3243064
16.
Ellen Denayer, Mie-Jef Descheemaeker, Douglas R Stewart, Kathelijn Keymolen, Ellen Plasschaert, Sarah L Ruppert, Joseph Snow, Audrey E Thurm, Lisa A Joseph, Jean-Pierre Fryns, Eric Legius
Am J Med Genet C Semin Med Genet.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2011 May 15; 157(2): 123–128. Published online 2011 Apr 14. doi: 10.1002/ajmg.c.30297
PMCID:
PMC3081633
17.
Ellen Denayer, Magdalena Chmara, Hilde Brems, Anneke Maat Kievit, Yolande van Bever, Ans MW Van den Ouweland, Rick Van Minkelen, Arja de Goede-Bolder, Rianne Oostenbrink, Phillis Lakeman, Eline Beert, Takuma Ishizaki, Tomoaki Mori, Kathelijn Keymolen, Jenneke Van den Ende, Elisabeth Mangold, Sirkku Peltonen, Glen Brice, Julia Rankin, Karin Y Van Spaendonck-Zwarts, Akihiko Yoshimura, Eric Legius
Hum Mutat. 2011 Jan; 32(1): E1985–E1998. doi: 10.1002/humu.21404
PMCID:
PMC3038325
18.
William E. Tidyman, Katherine A. Rauen
Curr Opin Genet Dev.
Published in final edited form as: Curr Opin Genet Dev. 2009 Jun; 19(3): 230–236. Published online 2009 May 19. doi: 10.1016/j.gde.2009.04.001
PMCID:
PMC2743116

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