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Items: 15

1.
Jeremy Nathans, Irene H. Maumenee, Eberhart Zrenner, Bettina Sadowski, Lindsay T. Sharpe, Richard A. Lewis, Egill Hansen, Thomas Rosenberg, Marianne Schwartz, John R. Heckenlively, Elias Traboulsi, Roger Klingaman, N. Torben Bech-Hansen, G. Robert LaRoche, Roberta A. Pagon, William H. Murphey, Richard G. Weleber
Am J Hum Genet. 1993 Nov; 53(5): 987–1000.
PMCID:
PMC1682301
2.
Brian C. Verrelli, Sarah A. Tishkoff
Am J Hum Genet. 2004 Sep; 75(3): 363–375. Published online 2004 Jul 13. doi: 10.1086/423287
PMCID:
PMC1182016
3.
J Chen, C L Tucker, B Woodford, A Szél, J Lem, A Gianella-Borradori, M I Simon, E Bogenmann
Proc Natl Acad Sci U S A. 1994 Mar 29; 91(7): 2611–2615.
PMCID:
PMC43419
4.
A. Maver, I. Medica, B. Salobir, M. Tercelj, B. Peterlin
Dis Markers. 2009; 27(6): 295–302. Published online 2010 Jan 14. doi: 10.3233/DMA-2009-0675
PMCID:
PMC3835065
5.
Joseph Carroll, Alfredo Dubra, Jessica C. Gardner, Liliana Mizrahi-Meissonnier, Robert F. Cooper, Adam M. Dubis, Rick Nordgren, Mohamed Genead, Thomas B. Connor, Jr, Kimberly E. Stepien, Dror Sharon, David M. Hunt, Eyal Banin, Alison J. Hardcastle, Anthony T. Moore, David R. Williams, Gerald Fishman, Jay Neitz, Maureen Neitz, Michel Michaelides
Invest Ophthalmol Vis Sci. 2012 Dec; 53(13): 8006–8015. Published online 2012 Dec 5. doi: 10.1167/iovs.12-11087
PMCID:
PMC3816954
6.
Susanne Kohl, Christian P Hamel
Eur J Hum Genet. 2011 Jun; 19(6) Published online 2011 Jan 26. doi: 10.1038/ejhg.2010.232
PMCID:
PMC3110038
7.
Yan Liu, Li Fu, Ding-Geng Chen, Samir S. Deeb
Vision Res.
Published in final edited form as: Vision Res. 2007 Aug; 47(17): 2314–2326. Published online 2007 Jul 25. doi: 10.1016/j.visres.2007.04.023
PMCID:
PMC2932699
8.
Jessica C. Gardner, Tom R. Webb, Naheed Kanuga, Anthony G. Robson, Graham E. Holder, Andrew Stockman, Caterina Ripamonti, Neil D. Ebenezer, Olufunmilola Ogun, Sophie Devery, Genevieve A. Wright, Eamonn R. Maher, Michael E. Cheetham, Anthony T. Moore, Michel Michaelides, Alison J. Hardcastle
Am J Hum Genet. 2010 Jul 9; 87(1): 26–39. doi: 10.1016/j.ajhg.2010.05.019
PMCID:
PMC2896775
9.
Petri Ala-Laurila, M. Carter Cornwall, Rosalie K. Crouch, Masahiro Kono
J Biol Chem. 2009 Jun 12; 284(24): 16492–16500. Published online 2009 Apr 22. doi: 10.1074/jbc.M109.004697
PMCID:
PMC2713570
10.
Toshiro Iwagawa, Yo Tanaka, Atsumi Iida, Toshio Itoh, Sumiko Watanabe
PLoS One. 2013; 8(8): e72065. Published online 2013 Aug 23. doi: 10.1371/journal.pone.0072065
PMCID:
PMC3751927
11.
J J Voegel, M J Heine, M Tini, V Vivat, P Chambon, H Gronemeyer
EMBO J. 1998 Jan 15; 17(2): 507–519. doi: 10.1093/emboj/17.2.507
PMCID:
PMC1170401
12.
Jianyin Long, Guannan Wang, Isao Matsuura, Dongming He, Fang Liu
Proc Natl Acad Sci U S A. 2004 Jan 6; 101(1): 99–104. Published online 2003 Dec 22. doi: 10.1073/pnas.0307598100
PMCID:
PMC314145
13.
Katherine A. Fitzgerald, Daniel C. Rowe, Betsy J. Barnes, Daniel R. Caffrey, Alberto Visintin, Eicke Latz, Brian Monks, Paula M. Pitha, Douglas T. Golenbock
J Exp Med. 2003 Oct 6; 198(7): 1043–1055. doi: 10.1084/jem.20031023
PMCID:
PMC2194210
14.
Xin Zhang, Anne V. Bedigian, Wenchao Wang, Ulrike S. Eggert
Cytoskeleton (Hoboken)
Published in final edited form as: Cytoskeleton (Hoboken). 2012 Oct; 69(10): 810–818. Published online 2012 Aug 28. doi: 10.1002/cm.21055
PMCID:
PMC4137143
15.
Mark T. Ross, Darren V. Grafham, Alison J. Coffey, Steven Scherer, Kirsten McLay, Donna Muzny, Matthias Platzer, Gareth R. Howell, Christine Burrows, Christine P. Bird, Adam Frankish, Frances L. Lovell, Kevin L. Howe, Jennifer L. Ashurst, Robert S. Fulton, Ralf Sudbrak, Gaiping Wen, Matthew C. Jones, Matthew E. Hurles, T. Daniel Andrews, Carol E. Scott, Stephen Searle, Juliane Ramser, Adam Whittaker, Rebecca Deadman, Nigel P. Carter, Sarah E. Hunt, Rui Chen, Andrew Cree, Preethi Gunaratne, Paul Havlak, Anne Hodgson, Michael L. Metzker, Stephen Richards, Graham Scott, David Steffen, Erica Sodergren, David A. Wheeler, Kim C. Worley, Rachael Ainscough, Kerrie D. Ambrose, M. Ali Ansari-Lari, Swaroop Aradhya, Robert I. S. Ashwell, Anne K. Babbage, Claire L. Bagguley, Andrea Ballabio, Ruby Banerjee, Gary E. Barker, Karen F. Barlow, Ian P. Barrett, Karen N. Bates, David M. Beare, Helen Beasley, Oliver Beasley, Alfred Beck, Graeme Bethel, Karin Blechschmidt, Nicola Brady, Sarah Bray-Allen, Anne M. Bridgeman, Andrew J. Brown, Mary J. Brown, David Bonnin, Elspeth A. Bruford, Christian Buhay, Paula Burch, Deborah Burford, Joanne Burgess, Wayne Burrill, John Burton, Jackie M. Bye, Carol Carder, Laura Carrel, Joseph Chako, Joanne C. Chapman, Dean Chavez, Ellson Chen, Guan Chen, Yuan Chen, Zhijian Chen, Craig Chinault, Alfredo Ciccodicola, Sue Y. Clark, Graham Clarke, Chris M. Clee, Sheila Clegg, Kerstin Clerc-Blankenburg, Karen Clifford, Vicky Cobley, Charlotte G. Cole, Jen S. Conquer, Nicole Corby, Richard E. Connor, Robert David, Joy Davies, Clay Davis, John Davis, Oliver Delgado, Denise DeShazo, Pawandeep Dhami, Yan Ding, Huyen Dinh, Steve Dodsworth, Heather Draper, Shannon Dugan-Rocha, Andrew Dunham, Matthew Dunn, K. James Durbin, Ireena Dutta, Tamsin Eades, Matthew Ellwood, Alexandra Emery-Cohen, Helen Errington, Kathryn L. Evans, Louisa Faulkner, Fiona Francis, John Frankland, Audrey E. Fraser, Petra Galgoczy, James Gilbert, Rachel Gill, Gernot Glöckner, Simon G. Gregory, Susan Gribble, Coline Griffiths, Russell Grocock, Yanghong Gu, Rhian Gwilliam, Cerissa Hamilton, Elizabeth A. Hart, Alicia Hawes, Paul D. Heath, Katja Heitmann, Steffen Hennig, Judith Hernandez, Bernd Hinzmann, Sarah Ho, Michael Hoffs, Phillip J. Howden, Elizabeth J. Huckle, Jennifer Hume, Paul J. Hunt, Adrienne R. Hunt, Judith Isherwood, Leni Jacob, David Johnson, Sally Jones, Pieter J. de Jong, Shirin S. Joseph, Stephen Keenan, Susan Kelly, Joanne K. Kershaw, Ziad Khan, Petra Kioschis, Sven Klages, Andrew J. Knights, Anna Kosiura, Christie Kovar-Smith, Gavin K. Laird, Cordelia Langford, Stephanie Lawlor, Margaret Leversha, Lora Lewis, Wen Liu, Christine Lloyd, David M. Lloyd, Hermela Loulseged, Jane E. Loveland, Jamieson D. Lovell, Ryan Lozado, Jing Lu, Rachael Lyne, Jie Ma, Manjula Maheshwari, Lucy H. Matthews, Jennifer McDowall, Stuart McLaren, Amanda McMurray, Patrick Meidl, Thomas Meitinger, Sarah Milne, George Miner, Shailesh L. Mistry, Margaret Morgan, Sidney Morris, Ines Müller, James C. Mullikin, Ngoc Nguyen, Gabriele Nordsiek, Gerald Nyakatura, Christopher N. O’Dell, Geoffery Okwuonu, Sophie Palmer, Richard Pandian, David Parker, Julia Parrish, Shiran Pasternak, Dina Patel, Alex V. Pearce, Danita M. Pearson, Sarah E. Pelan, Lesette Perez, Keith M. Porter, Yvonne Ramsey, Kathrin Reichwald, Susan Rhodes, Kerry A. Ridler, David Schlessinger, Mary G. Schueler, Harminder K. Sehra, Charles Shaw-Smith, Hua Shen, Elizabeth M. Sheridan, Ratna Shownkeen, Carl D. Skuce, Michelle L. Smith, Elizabeth C. Sotheran, Helen E. Steingruber, Charles A. Steward, Roy Storey, R. Mark Swann, David Swarbreck, Paul E. Tabor, Stefan Taudien, Tineace Taylor, Brian Teague, Karen Thomas, Andrea Thorpe, Kirsten Timms, Alan Tracey, Steve Trevanion, Anthony C. Tromans, Michele d’Urso, Daniel Verduzco, Donna Villasana, Lenee Waldron, Melanie Wall, Qiaoyan Wang, James Warren, Georgina L. Warry, Xuehong Wei, Anthony West, Siobhan L. Whitehead, Mathew N. Whiteley, Jane E. Wilkinson, David L. Willey, Gabrielle Williams, Leanne Williams, Angela Williamson, Helen Williamson, Laurens Wilming, Rebecca L. Woodmansey, Paul W. Wray, Jennifer Yen, Jingkun Zhang, Jianling Zhou, Huda Zoghbi, Sara Zorilla, David Buck, Richard Reinhardt, Annemarie Poustka, André Rosenthal, Hans Lehrach, Alfons Meindl, Patrick J. Minx, LaDeana W. Hillier, Huntington F. Willard, Richard K. Wilson, Robert H. Waterston, Catherine M. Rice, Mark Vaudin, Alan Coulson, David L. Nelson, George Weinstock, John E. Sulston, Richard Durbin, Tim Hubbard, Richard A. Gibbs, Stephan Beck, Jane Rogers, David R. Bentley
Nature.
Published in final edited form as: Nature. 2005 Mar 17; 434(7031): 325–337. doi: 10.1038/nature03440
PMCID:
PMC2665286

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