1. Cerebral hypomyelination associated with biallelic variants of FIG4. Issue 5 (28th February 2019) Authors: Lenk, Guy M.; Berry, Ian R.; Stutterd, Chloe A.; Blyth, Moira; Green, Lydia; Vadlamani, Gayatri; Warren, Daniel; Craven, Ian; Fanjul‐Fernandez, Miriam; Rodriguez‐Casero, Victoria; Lockhart, Paul J.; Vanderver, Adeline; Simons, Cas; Gibb, Susan; Sadedin, Simon; White, Susan M.; Christodoulou, John... Journal: Human mutation Issue: Volume 40:Issue 5(2019) Page Start: 619 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations. (February 2021) Authors: Blauen, Aglaë; Stutterd, Chloe A.; Stouffs, Katrien; Dumitriu, Dana; Deggouj, Naima; Lockhart, Paul J.; Leventer, Richard J.; Nassogne, Marie-Cécile; Jansen, Anna C. Journal: Journal of child neurology Issue: Volume 36:Number 2(2021) Page Start: 152 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review. Issue 11 (23rd September 2020) Authors: Tan, Natalie B.; Stapleton, Rachel; Stark, Zornitza; Delatycki, Martin B.; Yeung, Alison; Hunter, Matthew F.; Amor, David J.; Brown, Natasha J.; Stutterd, Chloe A.; McGillivray, George; Yap, Patrick; Regan, Matthew; Chong, Belinda; Fanjul Fernandez, Miriam; Marum, Justine; Phelan, Dean; Pais, Lyn... Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 11(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review. Issue 11 (23rd September 2020) Authors: Tan, Natalie B.; Stapleton, Rachel; Stark, Zornitza; Delatycki, Martin B.; Yeung, Alison; Hunter, Matthew F.; Amor, David J.; Brown, Natasha J.; Stutterd, Chloe A.; McGillivray, George; Yap, Patrick; Regan, Matthew; Chong, Belinda; Fanjul Fernandez, Miriam; Marum, Justine; Phelan, Dean; Pais, Lyn... Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 11(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations. Issue 10 (4th June 2021) Authors: Stutterd, Chloe A.; Kidd, Alexa; Florkowski, Chris; Janus, Edward; Fanjul, Miriam; Raizis, Anthony; Wu, Teddy Y.; Archer, John; Leventer, Richard J.; Amor, David J.; Lukic, Vesna; Bahlo, Melanie; Gow, Paul; Lockhart, Paul J.; van der Knaap, Marjo S.; Delatycki, Martin B. Journal: American journal of medical genetics Issue: Volume 185:Issue 10(2021) Page Start: 2941 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations. (April 2021) Authors: Stellingwerff, Menno D.; Figuccia, Sonia; Bellacchio, Emanuele; Alvarez, Karin; Castiglioni, Claudia; Topaloglu, Pinar; Stutterd, Chloe A.; Erasmus, Corrie E.; Sanchez‐Valle, Amarilis; Lebon, Sebastien; Hughes, Sarah; Schmitt-Mechelke, Thomas; Vasco, Gessica; Chow, Gabriel; Rahikkala, Elisa; Dall... Journal: Neurology Issue: Volume 7:Number 2(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Polymicrogyria: A common and heterogeneous malformation of cortical development. Issue 2 (28th May 2014) Authors: Stutterd, Chloe A.; Leventer, Richard J.; Mirzaa, Ghayda M.; Paciorkowski, Alex R. Journal: American journal of medical genetics Issue: Volume 166:Issue 2(2014) Page Start: 227 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Speech, Language, and Oromotor Skills in Patients With Polymicrogyria. (6th April 2021) Authors: Braden, Ruth O.; Boyce, Jessica O.; Stutterd, Chloe A.; Pope, Kate; Goel, Himanshu; Leventer, Richard J.; Scheffer, Ingrid E.; Morgan, Angela T. Journal: Neurology Issue: Volume 96:Number 14(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype. Issue 3 (24th December 2019) Authors: Yigit, Gökhan; Saida, Ken; DeMarzo, Danielle; Miyake, Noriko; Fujita, Atsushi; Yang Tan, Tiong; White, Susan M.; Wadley, Alexandrea; Toliat, Mohammad R.; Motameny, Susanne; Franitza, Marek; Stutterd, Chloe A.; Chong, Pin F.; Kira, Ryutaro; Sengoku, Toru; Ogata, Kazuhiro; Guillen Sacoto, Maria J.;... Journal: Human mutation Issue: Volume 41:Issue 3(2020) Page Start: 591 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗