1. A case report of genetic prion disease with two different PRNP variants. Issue 3 (17th January 2020) Authors: Piazza, Megan; Prior, Thomas W.; Khalsa, Prabhjot S.; Appleby, Brian Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 3(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. AVXS-101 Phase 1 gene therapy clinical trial in SMA Type 1: Event free survival and achievement of developmental milestones. (June 2017) Authors: Mendell, Jerry R.; Al-Zaidy, Samiah; Shell, Richard; Arnold, W. David; Rodino-Klapac, Louise; Prior, Thomas W.; Lowes, Linda; Alfano, Lindsay; Berry, Katherine; Church, Kathleen; Kissel, John T.; Nagendran, Sukumar; L'Italien, James; Sproule, Douglas M.; Cardenas, Jessica; Burghes, Arthur H.M.; F... Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e13 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study. Issue 2 (21st January 2016) Authors: Kolb, Stephen J.; Coffey, Christopher S.; Yankey, Jon W.; Krosschell, Kristin; Arnold, W. David; Rutkove, Seward B.; Swoboda, Kathryn J.; Reyna, Sandra P.; Sakonju, Ai; Darras, Basil T.; Shell, Richard; Kuntz, Nancy; Castro, Diana; Iannaccone, Susan T.; Parsons, Julie; Connolly, Anne M.; Chiribog... Journal: Annals of clinical and translational neurology Issue: Volume 3:Issue 2(2016) Page Start: 132 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical trial of L‐Carnitine and valproic acid in spinal muscular atrophy type I. Issue 2 (18th September 2017) Authors: Krosschell, Kristin J.; Kissel, John T.; Townsend, Elise L.; Simeone, Sarah D.; Zhang, Ren Zhe; Reyna, Sandra P.; Crawford, Thomas O.; Schroth, Mary K.; Acsadi, Gyula; Kishnani, Priya S.; Von Kleist‐Retzow, Jürgen‐Christoph; Hero, Barbara; D'Anjou, Guy; Smith, Edward C.; Elsheikh, Bakri; Simard, ... Journal: Muscle & nerve Issue: Volume 57:Issue 2(2018) Page Start: 193 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects. Issue 4 (1st March 2020) Authors: Berisha, Stela Z.; Shetty, Shashi; Prior, Thomas W.; Mitchell, Anna L. Other Names: Mitchell Anna L. guestEditor. Journal: Birth defects research Issue: Volume 112:Issue 4(2020) Page Start: 293 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Duplication of the Xq27.3–q28 region, including the FMR1 gene, in an X‐linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome. Issue 9 (29th July 2013) Authors: Hickey, Scott E.; Walters‐Sen, Lauren; Mosher, Theresa Mihalic; Pfau, Ruthann B.; Pyatt, Robert; Snyder, Pamela J.; Sotos, Juan F.; Prior, Thomas W. Journal: American journal of medical genetics Issue: Volume 161:Issue 9(2013:Sep.) Page Start: 2294 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Duplication of the Xq27.3–q28 region, including the FMR1 gene, in an X‐linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome. Issue 9 (29th July 2013) Authors: Hickey, Scott E.; Walters‐Sen, Lauren; Mosher, Theresa Mihalic; Pfau, Ruthann B.; Pyatt, Robert; Snyder, Pamela J.; Sotos, Juan F.; Prior, Thomas W. Journal: American journal of medical genetics Issue: Volume 161:Issue 9(2013:Sep.) Page Start: 2294 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Natural history of infantile‐onset spinal muscular atrophy. Issue 6 (8th December 2017) Authors: Kolb, Stephen J.; Coffey, Christopher S.; Yankey, Jon W.; Krosschell, Kristin; Arnold, W. David; Rutkove, Seward B.; Swoboda, Kathryn J.; Reyna, Sandra P.; Sakonju, Ai; Darras, Basil T.; Shell, Richard; Kuntz, Nancy; Castro, Diana; Parsons, Julie; Connolly, Anne M.; Chiriboga, Claudia A.; McDonal... Journal: Annals of neurology Issue: Volume 82:Issue 6(2017) Page Start: 883 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Outcome measures in a cohort of ambulatory adults with spinal muscular atrophy. Issue 2 (11th December 2019) Authors: Elsheikh, Bakri; King, Wendy; Peng, Juan; Swoboda, Kathy J.; Reyna, Sandra P.; LaSalle, Bernard; Prior, Thomas W.; Arnold, W. David; Kissel, John T.; Kolb, Stephen J. Journal: Muscle & nerve Issue: Volume 61:Issue 2(2020) Page Start: 187 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative. (2021) Authors: Pearlman, Rachel; Frankel, Wendy L.; Swanson, Benjamin J.; Jones, Dan; Zhao, Weiqiang; Yilmaz, Ahmet; Miller, Kristin; Bacher, Jason; Bigley, Christopher; Nelsen, Lori; Goodfellow, Paul J.; Goldberg, Richard M.; Paskett, Electra; Shields, Peter G.; Freudenheim, Jo L.; Stanich, Peter P.; Lattimer,... Journal: JCO precision oncology Issue: Volume 5(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗