1. A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA. Issue 2 (30th May 2013) Authors: Kirwin, Susan M.; Vinette, Kathy M. B.; Gonzalez, Iris L.; Abdulwahed, Hind Al; Al‐Sannaa, Nouriya; Funanage, Vicky L. Journal: Molecular genetics & genomic medicine Issue: Volume 1:Issue 2(2013:Jul.) Page Start: 113 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia. (6th August 2015) Authors: Hurd, Lauren; Kirwin, Susan M.; Boggs, Mary; Mackenzie, William G.; Bober, Michael B.; Funanage, Vicky L.; Duncan, Randall L. Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2286 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia. (6th August 2015) Authors: Hurd, Lauren; Kirwin, Susan M.; Boggs, Mary; Mackenzie, William G.; Bober, Michael B.; Funanage, Vicky L.; Duncan, Randall L. Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2286 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Key Considerations for Selecting a Genomic Decision Support Platform for Implementing Pharmacogenomics. Issue 3 (13th July 2021) Authors: Cook, Kelsey J.; Duong, Benjamin Q.; Seligson, Nathan D.; Arn, Pamela; Funanage, Vicky L.; Gripp, Karen W.; Kirwin, Susan M.; Lawless, Stephen T.; Lee, Mary M.; Robbins, Katherine M.; West, David; Blake, Kathryn V. Journal: Clinical pharmacology & therapeutics Issue: Volume 110:Issue 3(2021) Page Start: 555 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR. Issue 4 (21st March 2015) Authors: Stabley, Deborah L.; Harris, Ashlee W.; Holbrook, Jennifer; Chubbs, Nicholas J.; Lozo, Kevin W.; Crawford, Thomas O.; Swoboda, Kathryn J.; Funanage, Vicky L.; Wang, Wenlan; Mackenzie, William; Scavina, Mena; Sol‐Church, Katia; Butchbach, Matthew E. R. Journal: Molecular genetics & genomic medicine Issue: Volume 3:Issue 4(2015:Jul.) Page Start: 248 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗