1. Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis. (September 2018) Authors: Conant, Alexander; Curiel, Julian; Pizzino, Amy; Sabetrasekh, Parisa; Murphy, Jennifer; Bloom, Miriam; Evans, Sarah H.; Helman, Guy; Taft, Ryan J.; Simons, Cas; Whitehead, Matthew T.; Moore, Steven A.; Vanderver, Adeline Journal: Journal of child neurology Issue: Volume 33:Number 10(2018:Oct.) Page Start: 642 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy. (12th March 2019) Authors: van der Knaap, Marjo S.; Bugiani, Marianna; Mendes, Marisa I.; Riley, Lisa G.; Smith, Desiree E.C.; Rudinger-Thirion, Joëlle; Frugier, Magali; Breur, Marjolein; Crawford, Joanna; van Gaalen, Judith; Schouten, Meyke; Willems, Marjolaine; Waisfisz, Quinten; Mau-Them, Frederic Tran; Rodenburg, Richa... Journal: Neurology Issue: Volume 92:Number 11(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological Description. (February 2021) Authors: Helman, Guy; Viaene, Angela N.; Takanohashi, Asako; Breur, Marjolein; Berger, Rebecca; Woidill, Sarah; Cottrell, John R.; Schiffmann, Raphael; Crow, Yanick J.; Simons, Cas; Bugiani, Marianna; Vanderver, Adeline Journal: Journal of child neurology Issue: Volume 36:Number 2(2021) Page Start: 133 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. (30th April 2020) Authors: Dutta, Debdeep; Briere, Lauren C; Kanca, Oguz; Marcogliese, Paul C; Walker, Melissa A; High, Frances A; Vanderver, Adeline; Krier, Joel; Carmichael, Nikkola; Callahan, Christine; Taft, Ryan J; Simons, Cas; Helman, Guy; Network, Undiagnosed Diseases; Wangler, Michael F; Yamamoto, Shinya; Sweetser,... Journal: Human molecular genetics Issue: Volume 29:Number 9(2020) Page Start: 1568 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome. Issue 10 (27th June 2016) Authors: Crawford, Joanna; Bower, Neil I.; Hogan, Benjamin M.; Taft, Ryan J.; Gabbett, Michael T.; McGaughran, Julie; Simons, Cas Other Names: Hennekam Raoul C.M. guestEditor.; Biesecker Leslie G. guestEditor. Journal: American journal of medical genetics Issue: Volume 170:Issue 10(2016) Page Start: 2694 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genome sequencing in persistently unsolved white matter disorders. Issue 1 (7th January 2020) Authors: Helman, Guy; Lajoie, Bryan R.; Crawford, Joanna; Takanohashi, Asako; Walkiewicz, Marzena; Dolzhenko, Egor; Gross, Andrew M.; Gainullin, Vladimir G.; Bent, Stephen J.; Jenkinson, Emma M.; Ferdinandusse, Sacha; Waterham, Hans R.; Dorboz, Imen; Bertini, Enrico; Miyake, Noriko; Wolf, Nicole I.; Abbin... Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 1(2020) Page Start: 144 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy. Issue 5 (20th August 2022) Authors: Helman, Guy; Zarekiani, Parand; Tromp, Samantha A.M.; Andrews, Ashley; Botto, Lorenzo D.; Bonkowsky, Joshua L.; Chassevent, Anna; Giorgio, Elisa; Pippucci, Tommaso; Wei, Shen; Smith‐Hicks, Constance; Vaula, Giovanna; Willemsen, Michèl A.A.P; Schimmel, Mareike; Vollert, Kurt; Shimizu, Fumitaka; Ka... Journal: Annals of neurology Issue: Volume 92:Issue 5(2022) Page Start: 895 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program. Issue 8 (5th November 2021) Authors: Cloney, Thomas; Gallacher, Lyndon; Pais, Lynn S; Tan, Natalie B; Yeung, Alison; Stark, Zornitza; Brown, Natasha J; McGillivray, George; Delatycki, Martin B; de Silva, Michelle G; Downie, Lilian; Stutterd, Chloe A; Elliott, Justine; Compton, Alison G; Lovgren, Alysia; Oertel, Ralph; Francis, David... Journal: Journal of medical genetics Issue: Volume 59:Issue 8(2022) Page Start: 748 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome. (5th February 2019) Authors: Helman, Guy; Sharma, Suvasini; Crawford, Joanna; Patra, Bijoy; Jain, Puneet; Bent, Stephen J.; Urtizberea, J. Andoni; Saran, Ravindra K.; Taft, Ryan J.; van der Knaap, Marjo S.; Simons, Cas Journal: Neurology Issue: Volume 92:Number 6(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗