1. A multicenter, retrospective medical record review of X‐linked myotubular myopathy: The recensus study. Issue 4 (22nd December 2017) Authors: Beggs, Alan H.; Byrne, Barry J.; De Chastonay, Sabine; Haselkorn, Tmirah; Hughes, Imelda; James, Emma S.; Kuntz, Nancy L.; Simon, Jennifer; Swanson, Lindsay C.; Yang, Michele L.; Yu, Zi‐Fan; Yum, Sabrina W.; Prasad, Suyash Journal: Muscle & nerve Issue: Volume 57:Issue 4(2018) Page Start: 550 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Issue 6 (27th July 2018) Authors: Oates, Emily C.; Jones, Kristi J.; Donkervoort, Sandra; Charlton, Amanda; Brammah, Susan; Smith, John E.; Ware, James S.; Yau, Kyle S.; Swanson, Lindsay C.; Whiffin, Nicola; Peduto, Anthony J.; Bournazos, Adam; Waddell, Leigh B.; Farrar, Michelle A.; Sampaio, Hugo A.; Teoh, Hooi Ling; Lamont, Phi... Journal: Annals of neurology Issue: Volume 83:Issue 6(2018) Page Start: 1105 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Expansion of the genetic landscape of ERLIN2‐related disorders. Issue 4 (8th March 2020) Authors: Srivastava, Siddharth; D'Amore, Angelica; Cohen, Julie S.; Swanson, Lindsay C.; Ricca, Ivana; Pini, Antonella; Fatemi, Ali; Ebrahimi‐Fakhari, Darius; Santorelli, Filippo M. Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 4(2020) Page Start: 573 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Int22h1/Int22h2‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features. Issue 7 (12th March 2020) Authors: Ballout, Rami A.; Dickerson, Cheryl; Wick, Myra J.; Al‐Sweel, Najla; Openshaw, Amanda S.; Srivastava, Siddharth; Swanson, Lindsay C.; Bramswig, Nuria C.; Kuechler, Alma; Hong, Bo; Fleming, Leah R.; Curry, Kathryn; Robertson, Stephen P.; Andersen, Erica F.; El‐Hattab, Ayman W. Journal: Human mutation Issue: Volume 41:Issue 7(2020) Page Start: 1238 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Multisite Study of Evoked Potentials in Rett Syndrome. Issue 4 (4th February 2021) Authors: Saby, Joni N.; Benke, Timothy A.; Peters, Sarika U.; Standridge, Shannon M.; Matsuzaki, Junko; Cutri‐French, Clare; Swanson, Lindsay C.; Lieberman, David N.; Key, Alexandra P.; Percy, Alan K.; Neul, Jeffrey L.; Nelson, Charles A.; Roberts, Timothy P.L.; Marsh, Eric D. Journal: Annals of neurology Issue: Volume 89:Issue 4(2021) Page Start: 790 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Placebo‐controlled crossover assessment of mecasermin for the treatment of Rett syndrome. Issue 3 (31st January 2018) Authors: O'Leary, Heather M.; Kaufmann, Walter E.; Barnes, Katherine V.; Rakesh, Kshitiz; Kapur, Kush; Tarquinio, Daniel C.; Cantwell, Nicole G.; Roche, Katherine J.; Rose, Suzanne A.; Walco, Alexandra C.; Bruck, Natalie M.; Bazin, Grace A.; Holm, Ingrid A.; Alexander, Mark E.; Swanson, Lindsay C.; Baczew... Journal: Annals of clinical and translational neurology Issue: Volume 5:Issue 3(2018) Page Start: 323 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗