1. Biochemical abnormalities in Pearson syndrome. (March 2015) Authors: Crippa, Beatrice Letizia; Leon, Eyby; Calhoun, Amy; Lowichik, Amy; Pasquali, Marzia; Longo, Nicola Journal: American journal of medical genetics Issue: Volume 167:Number 3(2015:Mar.) Page Start: 621 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome. Issue 4 (8th January 2016) Authors: Ho, Karen S; South, Sarah T; Lortz, Amanda; Hensel, Charles H; Sdano, Mallory R; Vanzo, Rena J; Martin, Megan M; Peiffer, Andreas; Lambert, Christophe G; Calhoun, Amy; Carey, John C; Battaglia, Agatino Journal: Journal of medical genetics Issue: Volume 53:Issue 4(2016) Page Start: 256 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails. Issue 7 (10th April 2020) Authors: Viall, Sarah; Calhoun, Amy; Mew, Nicholas Ah; Tarini, Beth A. Journal: American journal of medical genetics Issue: Volume 182:Issue 7(2020) Page Start: 1750 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Phenotype of a patient with contiguous deletion of TBX5 and TBX3: Expanding the disease spectrum. Issue 5 (24th March 2014) Authors: Bogarapu, Soujanya; Bleyl, Steven B.; Calhoun, Amy; Viskochil, David; Saarel, Elizabeth V.; Everitt, Melanie D.; Frank, Deborah U. Journal: American journal of medical genetics Issue: Volume 164:Issue 5(2014.) Page Start: 1304 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. The variability of SMARCA4‐related Coffin–Siris syndrome: Do nonsense candidate variants add to milder phenotypes?. Issue 9 (20th July 2020) Authors: Li, Dong; Ahrens‐Nicklas, Rebecca C.; Baker, Janice; Bhambhani, Vikas; Calhoun, Amy; Cohen, Julie S.; Deardorff, Matthew A.; Fernández‐Jaén, Alberto; Kamien, Benjamin; Jain, Mahim; Mckenzie, Fiona; Mintz, Mark; Motter, Constance; Niles, Kirsten; Ritter, Alyssa; Rogers, Curtis; Roifman, Maian; Tow... Journal: American journal of medical genetics Issue: Volume 182:Issue 9(2020) Page Start: 2058 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗