1. A rare example of germ-line chromothripsis resulting in large genomic imbalance. Issue 2 (April 2016) Authors: Anderson, Sarah E.; Kamath, Arveen; Pilz, Daniela T.; Morgan, Sian M. Journal: Clinical dysmorphology Issue: Volume 25:Issue 2(2016:Apr.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Chromosome 17q12 duplications: Further delineation of the range of psychiatric and clinical phenotypes. Issue 5 (23rd July 2018) Authors: Kamath, Arveen; Linden, Stefanie C.; Evans, Ffion M.; Hall, Jeremy; Jose, Sian F.; Spillane, Sally A.; Hardie, Alan D. R.; Morgan, Sian M.; Pilz, Daniela T. Journal: American journal of medical genetics Issue: Volume 177:Issue 5(2018) Page Start: 520 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. SCN3A‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation. Issue 2 (9th July 2020) Authors: Zaman, Tariq; Helbig, Katherine L.; Clatot, Jérôme; Thompson, Christopher H.; Kang, Seok Kyu; Stouffs, Katrien; Jansen, Anna E.; Verstraete, Lieve; Jacquinet, Adeline; Parrini, Elena; Guerrini, Renzo; Fujiwara, Yuh; Miyatake, Satoko; Ben‐Zeev, Bruria; Bassan, Haim; Reish, Orit; Marom, Daphna; Hau... Journal: Annals of neurology Issue: Volume 88:Issue 2(2020) Page Start: 348 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The genetics of lissencephaly. Issue 2 (23rd May 2014) Authors: Fry, Andrew E.; Cushion, Thomas D.; Pilz, Daniela T.; Mirzaa, Ghayda M.; Paciorkowski, Alex R. Journal: American journal of medical genetics Issue: Volume 166:Issue 2(2014) Page Start: 198 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗