1. Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects. Issue 12 (7th June 2017) Authors: Kruszka, Paul; Tanpaiboon, Pranoot; Neas, Katherine; Crosby, Kathleen; Berger, Seth I; Martinez, Ariel F; Addissie, Yonit A; Pongprot, Yupada; Sittiwangkul, Rekwan; Silvilairat, Suchaya; Makonkawkeyoon, Krit; Yu, Lan; Wynn, Julia; Bennett, James T; Mefford, Heather C; Reynolds, William T; Liu, Xi... Journal: Journal of medical genetics Issue: Volume 54:Issue 12(2017) Page Start: 825 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome. Issue 2 (20th November 2014) Authors: Kruszka, Paul; Li, Dong; Harr, Margaret H; Wilson, Nathan R; Swarr, Daniel; McCormick, Elizabeth M; Chiavacci, Rosetta M; Li, Mindy; Martinez, Ariel F; Hart, Rachel A; McDonald-McGinn, Donna M; Deardorff, Matthew A; Falk, Marni J; Allanson, Judith E; Hudson, Cindy; Johnson, John P; Saadi, Irfan; ... Journal: Journal of medical genetics Issue: Volume 52:Issue 2(2015) Page Start: 104 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗