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Items: 14

1.
Samuel J. Huang, Laura M. Amendola, Darci L. Sternen
J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3
PMCID:
PMC9314484
2.
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
3.
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
4.
Hui Guo, Xinyi Wu, Keli Cai, Zhi Qiao
BMC Ophthalmol. 2015; 15: 3. Published online 2015 Jan 9. doi: 10.1186/1471-2415-15-3
PMCID:
PMC4298062
5.
Jie Li, Xiaoyun Jia, Shiqiang Li, Shaohua Fang, Xiangming Guo
Mol Vis. 2014; 20: 1017–1024. Published online 2014 Jul 18.
PMCID:
PMC4105116
6.
Mohd Hussain Shah, Vishwanath Bhat, Jyoti S. Shetty, Arun Kumar
Mol Vis. 2014; 20: 790–796. Published online 2014 Jun 12.
PMCID:
PMC4057248
7.
Alana Cecchi, Naomi Ogawa, Hugo R. Martinez, Alicia Carlson, Yuxin Fan, Daniel J. Penny, Dong-chuan Guo, Steven Eisenberg, Hazim Safi, Anthony Estrera, Richard A. Lewis, Deborah Meyers, Dianna M. Milewicz
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2013 Sep; 161(9): 10.1002/ajmg.a.36044. Published online 2013 Jul 29. doi: 10.1002/ajmg.a.36044
PMCID:
PMC3829633
8.
Kevin Gallagher, Tahrina Salam, Barron Sin, Sandy Gupta, Hadi Zambarakji
Case Rep Ophthalmol Med. 2011; 2011: 952543. Published online 2011 Dec 20. doi: 10.1155/2011/952543
PMCID:
PMC3350144
9.
Gerhard Sengle, Ko Tsutsui, Douglas R. Keene, Sara F. Tufa, Eric J. Carlson, Noe L. Charbonneau, Robert N. Ono, Takako Sasaki, Mary K. Wirtz, John R. Samples, Liselotte I. Fessler, John H. Fessler, Kiyotoshi Sekiguchi, Susan J. Hayflick, Lynn Y. Sakai
PLoS Genet. 2012 Jan; 8(1): e1002425. Published online 2012 Jan 5. doi: 10.1371/journal.pgen.1002425
PMCID:
PMC3252277
10.
Wendy E. Kutz, Lauren W. Wang, Hannah L. Bader, Alana K. Majors, Kazushi Iwata, Elias I. Traboulsi, Lynn Y. Sakai, Douglas R. Keene, Suneel S. Apte
J Biol Chem. 2011 May 13; 286(19): 17156–17167. Published online 2011 Mar 14. doi: 10.1074/jbc.M111.231571
PMCID:
PMC3089559
11.
Jose Morales, Latifa Al-Sharif, Dania S. Khalil, Jameela M.A. Shinwari, Prashant Bavi, Rahima A. Al-Mahrouqi, Ali Al-Rajhi, Fowzan S. Alkuraya, Brian F. Meyer, Nada Al Tassan
Am J Hum Genet. 2009 Nov 13; 85(5): 558–568. doi: 10.1016/j.ajhg.2009.09.011
PMCID:
PMC2775842
12.
L Faivre, R Gorlin, M Wirtz, M Godfrey, N Dagoneau, J Samples, M Le Merrer, G Collod-Beroud, C Boileau, A Munnich, V Cormier-Daire
J Med Genet. 2003 Jan; 40(1): 34–36. doi: 10.1136/jmg.40.1.34
PMCID:
PMC1735272
13.
Brian M Chang, Jeffrey M Liebmann, Robert Ritch
Trans Am Ophthalmol Soc. 2002; 100: 201–214.
PMCID:
PMC1358963
14.
Nathalie Dagoneau, Catherine Benoist-Lasselin, Céline Huber, Laurence Faivre, André Mégarbané, Abdulrahman Alswaid, Hélène Dollfus, Yves Alembik, Arnold Munnich, Laurence Legeai-Mallet, Valérie Cormier-Daire
Am J Hum Genet. 2004 Nov; 75(5): 801–806. Published online 2004 Sep 13. doi: 10.1086/425231
PMCID:
PMC1182109

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