1. Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype. Issue 1 (29th September 2022) Authors: Schirwani, Schaida; Woods, Emily; Koolen, David A.; Ockeloen, Charlotte W.; Lynch, Sally Ann; Kavanagh, Karl; Graham, John M.; Grand, Katheryn; Pierson, Tyler Mark; Chung, Jeffrey M.; Balasubramanian, Meena Journal: American journal of medical genetics Issue: Volume 191:Issue 1(2023) Page Start: 29 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. GRIN2A mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine. (3rd March 2014) Authors: Pierson, Tyler Mark; Yuan, Hongjie; Marsh, Eric D.; Fuentes‐Fajardo, Karin; Adams, David R.; Markello, Thomas; Golas, Gretchen; Simeonov, Dimitre R.; Holloman, Conisha; Tankovic, Anel; Karamchandani, Manish M.; Schreiber, John M.; Mullikin, James C.; Tifft, Cynthia J.; Toro, Camilo; Boerkoel, Cor... Journal: Annals of clinical and translational neurology Issue: Volume 1:Number 3(2014:Mar.) Page Start: 190 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2. Issue 4 (13th January 2021) Authors: Zarate, Yuri A.; Bosanko, Katherine A.; Thomas, Mary Ann; Miller, David T.; Cusmano‐Ozog, Kristina; Martinez‐Monseny, Antonio; Curry, Cynthia J.; Graham, John M.; Velsher, Lea; Bekheirnia, Mir Reza; Seidel, Veronica; Dedousis, Demitrios; Mitchell, Anna L.; DiMarino, Amy M.; Riess, Angelika; Balas... Journal: Clinical genetics Issue: Volume 99:Issue 4(2021) Page Start: 547 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11. (20th May 2014) Authors: Renvoisé, Benoît; Chang, Jaerak; Singh, Rajat; Yonekawa, Sayuri; FitzGibbon, Edmond J.; Mankodi, Ami; Vanderver, Adeline; Schindler, Alice B.; Toro, Camilo; Gahl, William A.; Mahuran, Don J.; Blackstone, Craig; Pierson, Tyler Mark Journal: Annals of clinical and translational neurology Issue: Volume 1:Number 6(2014) Page Start: 379 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mutation in the sixth immunoglobulin domain of L1CAM is associated with migrational brain anomalies. (December 2015) Authors: Shieh, Christine; Moser, Franklin; Graham, John M.; Watiker, Valerie; Pierson, Tyler Mark Journal: Neurology Issue: Volume 1:Number 4(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy. Issue 1 (9th November 2018) Authors: Otero, Maria G.; Tiongson, Emmanuelle; Diaz, Frank; Haude, Katrina; Panzer, Karin; Collier, Ashley; Kim, Jaemin; Adams, David; Tifft, Cynthia J.; Cui, Hong; Millian Zamora, Francisca; Au, Margaret G.; Graham, John M.; Buckley, David J.; Lewis, Richard; Toro, Camilo; Bai, Renkui; Turner, Lesley; M... Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 1(2019) Page Start: 154 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation. Issue 8 (25th March 2019) Authors: Tulli, Susanna; Del Bondio, Andrea; Baderna, Valentina; Mazza, Davide; Codazzi, Franca; Pierson, Tyler Mark; Ambrosi, Alessandro; Nolte, Dagmar; Goizet, Cyril; Toro, Camilo; Baets, Jonathan; Deconinck, Tine; DeJonghe, Peter; Mandich, Paola; Casari, Giorgio; Maltecca, Francesca Journal: Journal of medical genetics Issue: Volume 56:Issue 8(2019) Page Start: 499 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The NuRD complex and macrocephaly associated neurodevelopmental disorders. Issue 4 (18th November 2019) Authors: Pierson, Tyler Mark; Otero, Maria G.; Grand, Katheryn; Choi, Andrew; Graham, John M.; Young, Juan I.; Mackay, Joel P. Other Names: Burkardt Deepika guestEditor.; Tatton‐Brown Kate guestEditor.; Dobyns William B. guestEditor.; Graham John guestEditor. Journal: American journal of medical genetics Issue: Volume 181:Issue 4(2019) Page Start: 548 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗