1. Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA‐related overgrowth spectrum. Issue 5 (25th January 2018) Authors: Michel, M.E.; Konczyk, D.J.; Yeung, K.S.; Murillo, R.; Vivero, M.P.; Hall, A.M.; Zurakowski, D.; Adams, D.; Gupta, A.; Huang, A.Y.; Chung, B.H.Y.; Warman, M.L. Journal: Clinical genetics Issue: Volume 93:Issue 5(2018) Page Start: 1075 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion. Issue 4 (13th February 2018) Authors: Chiu, A.T.G.; Pei, S.L.C.; Mak, C.C.Y.; Leung, G.K.C.; Yu, M.H.C.; Lee, S.L.; Vreeburg, M.; Pfundt, R.; van der Burgt, I.; Kleefstra, T.; Frederic, T.M.‐T.; Nambot, S.; Faivre, L.; Bruel, A.‐L.; Rossi, M.; Isidor, B.; Küry, S.; Cogne, B.; Besnard, T.; Willems, M. Journal: Clinical genetics Issue: Volume 93:Issue 4(2018) Page Start: 880 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗