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. Anti–N-Methyl-d-Aspartate (NMDA) Receptor Encephalitis: A Survey of Treatment Progress and Prospects From Pediatric Neurologists. (February 2017) Authors: Kahn, Ilana; Helman, Guy; Vanderver, Adeline; Wells, Elizabeth Journal: Journal of child neurology Issue: Volume 32:Number 2(2017:Feb.) Page Start: 243 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. (16th January 2015) Authors: Crow, Yanick J.; Chase, Diana S.; Lowenstein Schmidt, Johanna; Szynkiewicz, Marcin; Forte, Gabriella M.A.; Gornall, Hannah L.; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy; Helman, Guy; Abdel‐Hamid, Mohamed S.; Abdel‐Salam, Ghada M.; Ackroyd, Sam; Aeby, Alec; Agosta, Guillermo; Albin, Cath... Journal: American journal of medical genetics Issue: Volume 167:Number 2(2015:Feb.) Page Start: 296 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Correction to Helman et al (2016) MRI spectrum of SDH deficiency‐related infantile leukoencephalopathy. Issue 3 (24th September 2018) Authors: Helman, Guy; Vanderver, Adeline Journal: Annals of neurology Issue: Volume 84:Issue 3(2018) Page Start: 481 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition. (September 2015) Authors: Vanderver, Adeline; Prust, Morgan; Kadom, Nadja; Demarest, Scott; Crow, Yanick J.; Helman, Guy; Orcesi, Simona; Piana, Roberta La; Uggetti, Carla; Wang, Jichuan; Gordisch-Dressman, Heather; van der Knaap, Marjo S.; Livingston, John H. Journal: Journal of child neurology Issue: Volume 30:Number 10(2015:Sep.) Page Start: 1343 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing. Issue 8 (23rd June 2020) Authors: Schmidt, Johanna L.; Pizzino, Amy; Nicholl, Jessica; Foley, Allison; Wang, Yue; Rosenfeld, Jill A.; Mighion, Lindsey; Bean, Lora; da Silva, Cristina; Cho, Megan T.; Truty, Rebecca; Garcia, John; Speare, Virginia; Blanco, Kirsten; Powis, Zoe; Hobson, Grace M.; Kirwin, Susan; Krock, Bryan; Lee, Han... Journal: American journal of medical genetics Issue: Volume 182:Issue 8(2020) Page Start: 1906 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. 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) ↗
10. 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) ↗