1. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management. Issue 4 (27th November 2015) Authors: Avila, M.; Dyment, D.A.; Sagen, J.V.; St‐Onge, J.; Moog, U.; Chung, B.H.Y.; Mo, S.; Mansour, S.; Albanese, A.; Garcia, S.; Martin, D.O.; Lopez, A.A.; Claudi, T.; König, R.; White, S.M.; Sawyer, S.L.; Bernstein, J.A.; Slattery, L.; Jobling, R.K.; Yoon, G. Journal: Clinical genetics Issue: Volume 89:Issue 4(2016) Page Start: 501 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Mosaicism for a SPRED1 deletion revealed in a patient with clinically suspected mosaic neurofibromatosis. (5th February 2017) Authors: Jobling, R.K.; Lara‐Corrales, I.; Hsiao, M.‐C.; Shugar, A.; Hedges, S.; Messiaen, L.; Kannu, P. Journal: British journal of dermatology Issue: Volume 176:Number 4(2017) Page Start: 1077 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Mosaicism for a SPRED1 deletion revealed in a patient with clinically suspected mosaic neurofibromatosis. (1st April 2017) Authors: Jobling, R.K.; Lara‐Corrales, I.; Hsiao, M.‐C.; Shugar, A.; Hedges, S.; Messiaen, L.; Kannu, P. Journal: British journal of dermatology Issue: Volume 176:Number 4(2017) Page Start: 1077 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗