PubMed

Khan S, Ullah I, Irfanullah, Touseef M, Basit S, Khan MN, Ahmad W.

Gene. 2013 Feb 15;515(1):84-8. doi: 10.1016/j.gene.2012.11.023. Epub 2012 Dec 6.

Zhang Q, Yu D, Seo S, Stone EM, Sheffield VC.

J Biol Chem. 2012 Jun 8;287(24):20625-35. doi: 10.1074/jbc.M112.341487. Epub 2012 Apr 12.

Daniels AB, Sandberg MA, Chen J, Weigel-DiFranco C, Fielding Hejtmancic J, Berson EL.

Arch Ophthalmol. 2012 Jul 1;130(7):901-7. doi: 10.1001/archophthalmol.2012.89.

Billingsley G, Deveault C, Héon E.

Ophthalmic Genet. 2011 Sep;32(3):181-7. doi: 10.3109/13816810.2011.567319. Epub 2011 Apr 4.

Feuillan PP, Ng D, Han JC, Sapp JC, Wetsch K, Spaulding E, Zheng YC, Caruso RC, Brooks BP, Johnston JJ, Yanovski JA, Biesecker LG.

J Clin Endocrinol Metab. 2011 Mar;96(3):E528-35. doi: 10.1210/jc.2010-2290. Epub 2011 Jan 5.

Schaefer E, Durand M, Stoetzel C, Doray B, Viville B, Hellé S, Danse JM, Hamel C, Bitoun P, Goldenberg A, Finck S, Faivre L, Sigaudy S, Holder M, Vincent MC, Marion V, Bonneau D, Verloes A, Nisand I, Mandel JL, Dollfus H.

Eur J Med Genet. 2011 Mar-Apr;54(2):157-60. doi: 10.1016/j.ejmg.2010.10.004. Epub 2010 Oct 29.

Imhoff O, Marion V, Stoetzel C, Durand M, Holder M, Sigaudy S, Sarda P, Hamel CP, Brandt C, Dollfus H, Moulin B.

Clin J Am Soc Nephrol. 2011 Jan;6(1):22-9. doi: 10.2215/CJN.03320410. Epub 2010 Sep 28.

Dulfer E, Hoefsloot LH, Timmer A, Mom C, van Essen AJ.

Am J Med Genet A. 2010 Oct;152A(10):2666-9. doi: 10.1002/ajmg.a.33650. No abstract available.

Putoux A, Mougou-Zerelli S, Thomas S, Elkhartoufi N, Audollent S, Le Merrer M, Lachmeijer A, Sigaudy S, Buenerd A, Fernandez C, Delezoide AL, Gubler MC, Salomon R, Saad A, Cordier MP, Vekemans M, Bouvier R, Attie-Bitach T.

J Med Genet. 2010 Dec;47(12):848-52. doi: 10.1136/jmg.2010.079392. Epub 2010 Aug 30.

Billingsley G, Bin J, Fieggen KJ, Duncan JL, Gerth C, Ogata K, Wodak SS, Traboulsi EI, Fishman GA, Paterson A, Chitayat D, Knueppel T, Millán JM, Mitchell GA, Deveault C, Héon E.

J Med Genet. 2010 Jul;47(7):453-63. doi: 10.1136/jmg.2009.073205. Epub 2010 May 14.

Muller J, Stoetzel C, Vincent MC, Leitch CC, Laurier V, Danse JM, Hellé S, Marion V, Bennouna-Greene V, Vicaire S, Megarbane A, Kaplan J, Drouin-Garraud V, Hamdani M, Sigaudy S, Francannet C, Roume J, Bitoun P, Goldenberg A, Philip N, Odent S, Green J, Cossée M, Davis EE, Katsanis N, Bonneau D, Verloes A, Poch O, Mandel JL, Dollfus H.

Hum Genet. 2010 Mar;127(5):583-93. doi: 10.1007/s00439-010-0804-9. Epub 2010 Feb 23.

Hjortshøj TD, Grønskov K, Philp AR, Nishimura DY, Riise R, Sheffield VC, Rosenberg T, Brøndum-Nielsen K.

Hum Mutat. 2010 Apr;31(4):429-36. doi: 10.1002/humu.21204.

Seo S, Baye LM, Schulz NP, Beck JS, Zhang Q, Slusarski DC, Sheffield VC.

Proc Natl Acad Sci U S A. 2010 Jan 26;107(4):1488-93. doi: 10.1073/pnas.0910268107. Epub 2010 Jan 4.

Marion V, Stoetzel C, Schlicht D, Messaddeq N, Koch M, Flori E, Danse JM, Mandel JL, Dollfus H.

Proc Natl Acad Sci U S A. 2009 Feb 10;106(6):1820-5. doi: 10.1073/pnas.0812518106. Epub 2009 Feb 3.

Hjortshøj TD, Grønskov K, Brøndum-Nielsen K, Rosenberg T.

Br J Ophthalmol. 2009 Mar;93(3):409-13. doi: 10.1136/bjo.2007.131110. Epub 2008 Jul 31.

Gerth C, Zawadzki RJ, Werner JS, Héon E.

Vision Res. 2008 Feb;48(3):392-9. Epub 2007 Nov 5.

Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA, Vicaire S, Jacquelin C, Plewniak F, Leitch CC, Sarda P, Hamel C, de Ravel TJ, Lewis RA, Friederich E, Thibault C, Danse JM, Verloes A, Bonneau D, Katsanis N, Poch O, Mandel JL, Dollfus H.

Am J Hum Genet. 2007 Jan;80(1):1-11. Epub 2006 Nov 15.

White DR, Ganesh A, Nishimura D, Rattenberry E, Ahmed S, Smith UM, Pasha S, Raeburn S, Trembath RC, Rajab A, Macdonald F, Banin E, Stone EM, Johnson CA, Sheffield VC, Maher ER.

Eur J Hum Genet. 2007 Feb;15(2):173-8. Epub 2006 Nov 15.

Laurier V, Stoetzel C, Muller J, Thibault C, Corbani S, Jalkh N, Salem N, Chouery E, Poch O, Licaire S, Danse JM, Amati-Bonneau P, Bonneau D, Mégarbané A, Mandel JL, Dollfus H.

Eur J Hum Genet. 2006 Nov;14(11):1195-203. Epub 2006 Jul 5.

Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, Holder M, Odent S, Holder S, Brooks AS, Elcioglu NH, Silva ED, Rossillion B, Sigaudy S, de Ravel TJ, Lewis RA, Leheup B, Verloes A, Amati-Bonneau P, Mégarbané A, Poch O, Bonneau D, Beales PL, Mandel JL, Katsanis N, Dollfus H.

Nat Genet. 2006 May;38(5):521-4. Epub 2006 Apr 2. Erratum in: Nat Genet. 2006 Jun;38(6):727. Da Silva, Eduardo [corrected to Silva, Eduardo D].