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Items: 16

1.
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
2.
Zhiqiang Qu, Li-Ting Chien, Yuanyuan Cui, H. Criss Hartzell
J Neurosci. 2006 May 17; 26(20): 5411–5419. doi: 10.1523/JNEUROSCI.5500-05.2006
PMCID:
PMC6675304
3.
Kristof Van Schil, Sarah Naessens, Stijn Van de Sompele, Marjolein Carron, Alexander Aslanidis, Caroline Van Cauwenbergh, Anja Kathrin Mayer, Mattias Van Heetvelde, Miriam Bauwens, Hannah Verdin, Frauke Coppieters, Michael E Greenberg, Marty G Yang, Marcus Karlstetter, Thomas Langmann, Katleen De Preter, Susanne Kohl, Timothy J Cherry, Bart P Leroy, CNV Study Group, Elfride De Baere
Genet Med. 2018; 20(2): 202–213. Published online 2017 Jul 27. doi: 10.1038/gim.2017.97
PMCID:
PMC5787040
4.
Lauren A. Dalvin, Jose S. Pulido, Alan D. Marmorstein
Ophthalmic Genet.
Published in final edited form as: Ophthalmic Genet. 2017 Mar-Apr; 38(2): 143–147. Published online 2016 Apr 27. doi: 10.1080/13816810.2016.1175645
PMCID:
PMC5638045
5.
Adiv A. Johnson, Karina E. Guziewicz, C. Justin Lee, Ravi C. Kalathar, Jose S. Pulido, Lihua Y. Marmorstein, Alan D. Marmorstein
Prog Retin Eye Res.
Published in final edited form as: Prog Retin Eye Res. 2017 May; 58: 45–69. Published online 2017 Jan 30. doi: 10.1016/j.preteyeres.2017.01.006
PMCID:
PMC5600499
6.
Jamie M Ellingford, Christopher Campbell, Stephanie Barton, Sanjeev Bhaskar, Saurabh Gupta, Rachel L Taylor, Panagiotis I Sergouniotis, Bradley Horn, Janine A Lamb, Michel Michaelides, Andrew R Webster, William G Newman, Binay Panda, Simon C Ramsden, Graeme CM Black
Eur J Hum Genet. 2017 Jun; 25(6): 719–724. Published online 2017 Apr 5. doi: 10.1038/ejhg.2017.42
PMCID:
PMC5427176
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.
L Zhao, S Grob, R Corey, M Krupa, J Luo, H Du, C Lee, G Hughes, J Lee, J Quach, J Zhu, P X Shaw, I Kozak, K Zhang
Eye (Lond) 2012 Jun; 26(6): 866–871. Published online 2012 Mar 16. doi: 10.1038/eye.2012.27
PMCID:
PMC3376281
10.
Giuseppe Querques, Jennyfer Zerbib, Rossana Santacroce, Maurizio Margaglione, Nathalie Delphin, Jean-Michel Rozet, Josseline Kaplan, Domenico Martinelli, Nicola Delle Noci, Gisèle Soubrane, Eric H. Souied
Mol Vis. 2009; 15: 2960–2972. Published online 2009 Dec 31.
PMCID:
PMC2802291
11.
Alice E. Davidson, Ian D. Millar, Jill E. Urquhart, Rosemary Burgess-Mullan, Yusrah Shweikh, Neil Parry, James O'Sullivan, Geoffrey J. Maher, Martin McKibbin, Susan M. Downes, Andrew J. Lotery, Samuel G. Jacobson, Peter D. Brown, Graeme C.M. Black, Forbes D.C. Manson
Am J Hum Genet. 2009 Nov 13; 85(5): 581–592. doi: 10.1016/j.ajhg.2009.09.015
PMCID:
PMC2775838
12.
D Marchant, K Yu, K Bigot, O Roche, A Germain, D Bonneau, V Drouin‐Garraud, D F Schorderet, F Munier, D Schmidt, P Le Neindre, C Marsac, M Menasche, J L Dufier, R Fischmeister, C Hartzell, M Abitbol
J Med Genet. 2007 Mar; 44(3): e70. doi: 10.1136/jmg.2006.044511
PMCID:
PMC2598027
13.
Kuai Yu, Qinghuan Xiao, Guiying Cui, Amy Lee, H. Criss Hartzell
J Neurosci. 2008 May 28; 28(22): 5660–5670. doi: 10.1523/JNEUROSCI.0065-08.2008
PMCID:
PMC2587081
14.
Age-Related Eye Disease Study Research Group
Ophthalmology.
Published in final edited form as: Ophthalmology. 2005 Apr; 112(4): 533–539. doi: 10.1016/j.ophtha.2004.10.047
PMCID:
PMC1513667
15.
Hui Sun, Takashi Tsunenari, King-Wai Yau, Jeremy Nathans
Proc Natl Acad Sci U S A. 2002 Mar 19; 99(6): 4008–4013. doi: 10.1073/pnas.052692999
PMCID:
PMC122639
16.
Alan D. Marmorstein, Lihua Y. Marmorstein, Mary Rayborn, Xinxing Wang, Joe G. Hollyfield, Konstantin Petrukhin
Proc Natl Acad Sci U S A. 2000 Nov 7; 97(23): 12758–12763. Published online 2000 Oct 24. doi: 10.1073/pnas.220402097
PMCID:
PMC18837

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