1. ADCY5-related dyskinesia: Broader spectrum and genotype–phenotype correlations. (8th December 2015) Authors: Chen, Dong-Hui; Méneret, Aurélie; Friedman, Jennifer R.; Korvatska, Olena; Gad, Alona; Bonkowski, Emily S.; Stessman, Holly A.; Doummar, Diane; Mignot, Cyril; Anheim, Mathieu; Bernes, Saunder; Davis, Marie Y.; Damon-Perrière, Nathalie; Degos, Bertrand; Grabli, David; Gras, Domitille; Hisama, Fuki... Journal: Neurology Issue: Volume 85:Number 23(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Alternative splicing in a presenilin 2 variant associated with Alzheimer disease. Issue 4 (10th March 2019) Authors: Braggin, Jacquelyn E.; Bucks, Stephanie A.; Course, Meredith M.; Smith, Carole L.; Sopher, Bryce; Osnis, Leah; Shuey, Kiel D.; Domoto‐Reilly, Kimiko; Caso, Christina; Kinoshita, Chizuru; Scherpelz, Kathryn P.; Cross, Chloe; Grabowski, Thomas; Nik, Seyyed H. M.; Newman, Morgan; Garden, Gwenn A.; L... Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 4(2019) Page Start: 762 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. An 8‐generation family with X‐linked Charcot–Marie–Tooth: Confirmation Of the pathogenicity Of a 3′ untranslated region mutation in GJB1 and its clinical features. Issue 5 (28th December 2017) Authors: Chen, Dong‐Hui; Ma, Maxwell; Scavina, Mena; Blue, Elizabeth; Wolff, John; Karna, Prasanthi; Dorschner, Michael O.; Raskind, Wendy H.; Bird, Thomas D. Journal: Muscle & nerve Issue: Volume 57:Issue 5(2018) Page Start: 859 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Building a family network from genetic testing. Issue 2 (29th December 2016) Authors: Leppig, Kathleen A.; Thiese, Heidi A.; Carrel, David; Crosslin, David R.; Dorschner, Michael O.; Gordon, Adam S.; Hartzler, Andrea; Ralston, James; Scrol, Aaron; Larson, Eric B.; Jarvik, Gail P. Journal: Molecular genetics & genomic medicine Issue: Volume 5:Issue 2(2017) Page Start: 122 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genetic counseling for early onset and familial dementia: Patient perspectives on exome sequencing. Issue 3 (3rd January 2021) Authors: Rolf, Bradley; Blue, Elizabeth E.; Bucks, Stephanie; Dorschner, Michael O.; Jayadev, Suman Journal: Journal of genetic counseling Issue: Volume 30:Issue 3(2021) Page Start: 793 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Homozygous CADPS2 Mutations Cause Neurodegenerative Disease with Lewy Body‐like Pathology in Parrots. Issue 12 (10th September 2022) Authors: Lorenzo‐Betancor, Oswaldo; Galosi, Livio; Bonfili, Laura; Eleuteri, Anna Maria; Cecarini, Valentina; Verin, Ranieri; Dini, Fabrizio; Attili, Anna‐Rita; Berardi, Sara; Biagini, Lucia; Robino, Patrizia; Stella, Maria Cristina; Yearout, Dora; Dorschner, Michael O.; Tsuang, Debby W.; Rossi, Giacomo; ... Journal: Movement disorders Issue: Volume 37:Issue 12(2022) Page Start: 2345 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Refining the structure and content of clinical genomic reports. Issue 1 (10th March 2014) Authors: Dorschner, Michael O.; Amendola, Laura M.; Shirts, Brian H.; Kiedrowski, Lesli; Salama, Joseph; Gordon, Adam S.; Fullerton, Stephanie M.; Tarczy‐Hornoch, Peter; Byers, Peter H.; Jarvik, Gail P.; Williams, Marc S. Journal: American journal of medical genetics Issue: Volume 166:Issue 1(2014) Page Start: 85 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Safety, Feasibility, and Merits of Longitudinal Molecular Testing of Multiple Metastatic Sites to Inform mTNBC Patient Treatment in the Intensive Trial of Omics in Cancer. (16th March 2022) Authors: Burton, Kimberly A.; Mahen, Elisabeth; Konnick, Eric Quentin; Blau, Sibel; Dorschner, Michael O.; Ramirez, Arturo B.; Schmechel, Stephen C.; Song, Chaozhong; Parulkar, Rahul; Parker, Stephanie; Senecal, Francis Mark; Pritchard, Colin C.; Mecham, Brigham H.; Szeto, Christopher; Spilman, Patricia; ... Journal: JCO precision oncology Issue: Volume 6(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot. Issue 1 (1st December 2016) Authors: Mata, Ignacio F.; Davis, Marie Y.; Lopez, Alexis N.; Dorschner, Michael O.; Martinez, Erica; Yearout, Dora; Cholerton, Brenna A.; Hu, Shu‐Ching; Edwards, Karen L.; Bird, Thomas D.; Zabetian, Cyrus P. Other Names: Tsuang Debby W. guestEditor.; Bird Thomas D. guestEditor. Journal: American journal of medical genetics Issue: Volume 174:Issue 1(2017) Page Start: 113 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot. Issue 7 (25th April 2016) Authors: Mata, Ignacio F.; Davis, Marie Y.; Lopez, Alexis N.; Dorschner, Michael O.; Martinez, Erica; Yearout, Dora; Cholerton, Brenna A.; Hu, Shu‐Ching; Edwards, Karen L.; Bird, Thomas D.; Zabetian, Cyrus P. Other Names: Asherson Philip guestEditor.; Larsson Henrik guestEditor. Journal: American journal of medical genetics Issue: Volume 171:Issue 7(2016) Page Start: 925 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗