Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

Abecasis GR, 2001, BIOINFORMATICS, V17, P742, DOI 10.1093-bioinformatics-17.8.742; Abecasis GR, 2002, NAT GENET, V30, P97, DOI 10.1038-ng786; Aller E, 2010, INVEST OPHTH VIS SCI, V51, P5480, DOI 10.1167-iovs.10-5359; Bolz HJ, 2011, EUR J HUM GENET, V19, DOI 10.1038-ejhg.2011.15; Bonnet C, 2011, ORPHANET J RARE DIS, V6, DOI 10.1186-1750-1172-6-21; Cohen M, 2007, INT J AUDIOL, V46, P82, DOI 10.1080-14992020600975279; Dad S, 2010, CLIN GENET, V78, P388, DOI 10.1111-j.1399-0004.2010.01393.x; Ebermann I, 2007, HUM MUTAT, V28, P571, DOI 10.1002-humu.20478; Ebermann I, 2010, J CLIN INVEST, V120, P1812, DOI 10.1172-JCI39715; Fiskerstrand T, 2010, AM J HUM GENET, V87, P410, DOI 10.1016-j.ajhg.2010.08.002; Gudbjartsson DF, 2000, NAT GENET, V25, P12, DOI 10.1038-75514; Kimberling WJ, 2010, GENET MED, V12, P512, DOI 10.1097-GIM.0b013e3181e5afb8; Kremer H, 2006, HUM MOL GENET, V15, pR262, DOI 10.1093-hmg-ddl205; Maerker T, 2008, HUM MOL GENET, V17, P71, DOI 10.1093-hmg-ddm285; O'Connell JR, 1998, AM J HUM GENET, V63, P259, DOI 10.1086-301904; Puffenberger EG, 2012, PLOS ONE, V7, DOI 10.1371-journal.pone.0028936; Reiners J, 2006, EXP EYE RES, V83, P97, DOI 10.1016-j.exer.2005.11.010; Ruschendorf F, 2005, BIOINFORMATICS, V21, P2123, DOI 10.1093-bioinformatics-bti264; Schulze TG, 2004, HUM HERED, V58, P131, DOI 10.1159-000083539; Stabej PL, 2012, J MED GENET, V49, P27, DOI 10.1136-jmedgenet-2011-100468; Thiele H, 2005, BIOINFORMATICS, V21, P1730, DOI 10.1093-bioinformatics-bth488; Vache C, 2012, HUM MUTAT, V33, P104, DOI 10.1002-humu.21634; van Wijk E, 2009, HUM MOL GENET, V18, P51, DOI 10.1093-hmg-ddn312; Woods CG, 2006, AM J HUM GENET, V78, P889, DOI 10.1086-503875; Zallocchi M, 2012, PLOS ONE, V7, DOI 10.1371-journal.pone.0030573