1. A novel mutation in two Hmong families broadens the range of STRA6‐related malformations to include contractures and camptodactyly. Issue 1 (16th September 2015) Authors: Marcadier, Julien L.; Mears, Alan J.; Woods, Elizabeth A.; Fisher, Jamie; Airheart, Cory; Qin, Wen; Beaulieu, Chandree L.; Dyment, David A.; Innes, A. Micheil; Curry, Cynthia J. Journal: American journal of medical genetics Issue: Volume 170:Issue 1(2016) Page Start: 11 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Diamond–Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. Issue 9 (18th June 2014) Authors: Gripp, Karen W.; Curry, Cynthia; Olney, Ann Haskins; Sandoval, Claudio; Fisher, Jamie; Chong, Jessica Xiao‐Ling; UW Center for Mendelian Genomics; Pilchman, Lisa; Sahraoui, Rebecca; Stabley, Deborah L.; Sol‐Church, Katia Journal: American journal of medical genetics Issue: Volume 164:Issue 9(2014.) Page Start: 2240 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Investigation of NRXN1 deletions: Clinical and molecular characterization12. Issue 4 (12th March 2013) Authors: Dabell, Mindy Preston; Rosenfeld, Jill A.; Bader, Patricia; Escobar, Luis F.; El‐Khechen, Dima; Vallee, Stephanie E.; Dinulos, Mary Beth Palko; Curry, Cynthia; Fisher, Jamie; Tervo, Raymond; Hannibal, Mark C.; Siefkas, Kiana; Wyatt, Philip R.; Hughes, Lauren; Smith, Rosemarie; Ellingwood, Sara; L... Journal: American journal of medical genetics Issue: Volume 161:Issue 4(2013:Apr.) Page Start: 717 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome. Issue 11 (22nd September 2014) Authors: Myers, Angela; Bernstein, Jonathan A.; Brennan, Marie‐Luise; Curry, Cynthia; Esplin, Edward D.; Fisher, Jamie; Homeyer, Margaret; Manning, Melanie A.; Muller, Eric A.; Niemi, Anna‐Kaisa; Seaver, Laurie H.; Hintz, Susan R.; Hudgins, Louanne Journal: American journal of medical genetics Issue: Volume 164:Issue 11(2014.) Page Start: 2814 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗