1. Clinical features associated with copy number variations of the 14q32 imprinted gene cluster. (26th November 2014) Authors: Rosenfeld, Jill A.; Fox, Joyce E.; Descartes, Maria; Brewer, Fallon; Stroud, Tracy; Gorski, Jerome L.; Upton, Sheila J.; Moeschler, John B.; Monteleone, Berrin; Neill, Nicholas J.; Lamb, Allen N.; Ballif, Blake C.; Shaffer, Lisa G.; Ravnan, J. Britt Journal: American journal of medical genetics Issue: Volume 167:Number 2(2015:Feb.) Page Start: 345 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Recurrent HERV‐H‐Mediated 3q13.2–q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays. Issue 10 (13th August 2013) Authors: Shuvarikov, Andrey; Campbell, Ian M.; Dittwald, Piotr; Neill, Nicholas J.; Bialer, Martin G.; Moore, Christine; Wheeler, Patricia G.; Wallace, Stephanie E.; Hannibal, Mark C.; Murray, Michael F.; Giovanni, Monica A.; Terespolsky, Deborah; Sodhi, Sandi; Cassina, Matteo; Viskochil, David; Moghaddam... Journal: Human mutation Issue: Volume 34:Issue 10(2013:Oct.) Page Start: 1415 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗