1. Characterisation and genetic mapping of a new X linked deafness syndrome. Issue 11 (1st November 2000) Authors: Martin, Donna M; Probst, Frank J; Camper, Sally A; Petty, Elizabeth M Journal: Journal of medical genetics Issue: Volume 37:Issue 11(2000) Page Start: 836 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events. Issue 11 (5th October 2012) Authors: Bi, Weimin; Probst, Frank J; Wiszniewska, Joanna; Plunkett, Katie; Roney, Erin K; Carter, Brian S; Williams, Misti D; Stankiewicz, Pawel; Patel, Ankita; Stevens, Cathy A; Lupski, James R; Cheung, Sau Wai Journal: Journal of medical genetics Issue: Volume 49:Issue 11(2012) Page Start: 681 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. Issue 5 (12th November 2009) Authors: Shinawi, Marwan; Liu, Pengfei; Kang, Sung-Hae L; Shen, Joseph; Belmont, John W; Scott, Daryl A; Probst, Frank J; Craigen, William J; Graham, Brett H; Pursley, Amber; Clark, Gary; Lee, Jennifer; Proud, Monica; Stocco, Amber; Rodriguez, Diana L; Kozel, Beth A; Sparagana, Steven; Roeder, Elizabeth R... Journal: Journal of medical genetics Issue: Volume 47:Issue 5(2010) Page Start: 332 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗