1. Comprehensive molecular screening strategy of OCLN in band‐like calcification with simplified gyration and polymicrogyria. Issue 2 (3rd August 2017) Authors: Jenkinson, E.M.; Livingston, J.H.; O'Driscoll, M.C.; Desguerre, I.; Nabbout, R.; Boddaert, N.; Soares, G.; Gonçalves da Rocha, M.; D'Arrigo, S.; Rice, G.I.; Crow, Y.J. Journal: Clinical genetics Issue: Volume 93:Issue 2(2018) Page Start: 228 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Unusual cutaneous features associated with a heterozygous gain‐of‐function mutation in IFIH1: overlap between Aicardi‐Goutières and Singleton‐Merten syndromes. (1st December 2015) Authors: Bursztejn, A.‐C.; Briggs, T.A.; del Toro Duany, Y.; Anderson, B.H.; O'Sullivan, J.; Williams, S.G.; Bodemer, C.; Fraitag, S.; Gebhard, F.; Leheup, B.; Lemelle, I.; Oojageer, A.; Raffo, E.; Schmitt, E.; Rice, G.I.; Hur, S.; Crow, Y.J. Journal: British journal of dermatology Issue: Volume 173:Number 6(2015:Dec.) Page Start: 1505 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Unusual cutaneous features associated with a heterozygous gain‐of‐function mutation in IFIH1: overlap between Aicardi‐Goutières and Singleton‐Merten syndromes. (29th October 2015) Authors: Bursztejn, A.‐C.; Briggs, T.A.; del Toro Duany, Y.; Anderson, B.H.; O'Sullivan, J.; Williams, S.G.; Bodemer, C.; Fraitag, S.; Gebhard, F.; Leheup, B.; Lemelle, I.; Oojageer, A.; Raffo, E.; Schmitt, E.; Rice, G.I.; Hur, S.; Crow, Y.J. Journal: British journal of dermatology Issue: Volume 173:Number 6(2015:Dec.) Page Start: 1505 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗