1. A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings. Issue 9 (10th July 2017) Authors: Seabra, Catarina M.; Szoko, Nicholas; Erdin, Serkan; Ragavendran, Ashok; Stortchevoi, Alexei; Maciel, Patrícia; Lundberg, Kathleen; Schlatzer, Daniela; Smith, Janice; Talkowski, Michael E.; Gusella, James F.; Natowicz, Marvin R. Journal: American journal of medical genetics Issue: Volume 173:Issue 9(2017) Page Start: 2478 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three‐generation Chinese family. Issue 6 (4th August 2018) Authors: Yuan, Haiming; Wang, Qingming; Liu, Yanhui; Yang, Wei; He, Yi; Gusella, James F.; Song, Jiage; Shen, Yiping Journal: American journal of medical genetics Issue: Volume 177:Issue 6(2018) Page Start: 589 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Abstract 91: Autophagy Mediates Environment-Gene Interactions in Orofacial Cleft Pathogenesis. (May 2015) Authors: Rochard, Lucie J.; Li, Edward; Nguyen, Christina; Gusella, James F.; Maas, Richard; Morton, Cynthia; Talkowski, Michael; Liao, Eric C. Journal: Plastic and reconstructive surgery Issue: Volume 135(2015)Supplement 5 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cover Image, Volume 173A, Number 2, February 2017. Issue 2 (19th January 2017) Authors: Maussion, Gilles; Cruceanu, Cristiana; Rosenfeld, Jill A.; Bell, Scott C.; Jollant, Fabrice; Szatkiewicz, Jin; Collins, Ryan L.; Hanscom, Carrie; Kolobova, Ilaria; de Champfleur, Nicolas Menjot; Blumenthal, Ian; Chiang, Colby; Ota, Vanessa; Hultman, Christina; O'Dushlaine, Colm; McCarroll, Steve;... Journal: American journal of medical genetics Issue: Volume 173:Issue 2(2017) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Cover Image, Volume 173A, Number 2, February 2017. Issue 2 (February 2017) Authors: Maussion, Gilles; Cruceanu, Cristiana; Rosenfeld, Jill A.; Bell, Scott C.; Jollant, Fabrice; Szatkiewicz, Jin; Collins, Ryan L.; Hanscom, Carrie; Kolobova, Ilaria; de Champfleur, Nicolas Menjot; Blumenthal, Ian; Chiang, Colby; Ota, Vanessa; Hultman, Christina; O'Dushlaine, Colm; McCarroll, Steve;... Journal: American journal of medical genetics Issue: Volume 173:Issue 2(2017) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Genetic modifiers of Huntington's disease. Issue 11 (25th August 2014) Authors: Gusella, James F.; MacDonald, Marcy E.; Lee, Jong‐Min; Reilmann, Ralf; Leavitt, Blair R.; Ross, Christopher A. Journal: Movement disorders Issue: Volume 29:Issue 11(2014) Page Start: 1359 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease. Issue 2 (5th February 2015) Authors: Ramos, Eliana Marisa; Gillis, Tammy; Mysore, Jayalakshmi S.; Lee, Jong‐Min; Gögele, Martin; D'Elia, Yuri; Pichler, Irene; Sequeiros, Jorge; Pramstaller, Peter P.; Gusella, James F.; MacDonald, Marcy E.; Alonso, Isabel Journal: American journal of medical genetics Issue: Volume 168:Issue 2(2015) Page Start: 135 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock-in mice across multiple genetic backgrounds. (27th February 2017) Authors: Ament, Seth A.; Pearl, Jocelynn R.; Grindeland, Andrea; St. Claire, Jason; Earls, John C.; Kovalenko, Marina; Gillis, Tammy; Mysore, Jayalakshmi; Gusella, James F.; Lee, Jong-Min; Kwak, Seung; Howland, David; Lee, Min Young; Baxter, David; Scherler, Kelsey; Wang, Kai; Geman, Donald; Carroll, Jeff... Journal: Human molecular genetics Issue: Volume 26:Number 5(2017:Mar. 01) Page Start: 913 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Implication of LRRC4C and DPP6 in neurodevelopmental disorders. Issue 2 (19th October 2016) Authors: Maussion, Gilles; Cruceanu, Cristiana; Rosenfeld, Jill A.; Bell, Scott C.; Jollant, Fabrice; Szatkiewicz, Jin; Collins, Ryan L.; Hanscom, Carrie; Kolobova, Ilaria; de Champfleur, Nicolas Menjot; Blumenthal, Ian; Chiang, Colby; Ota, Vanessa; Hultman, Christina; O'Dushlaine, Colm; McCarroll, Steve;... Journal: American journal of medical genetics Issue: Volume 173:Issue 2(2017) Page Start: 395 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus. (7th January 2015) Authors: Quintero-Rivera, Fabiola; Xi, Qiongchao J.; Keppler-Noreuil, Kim M.; Lee, Ji Hyun; Higgins, Anne W.; Anchan, Raymond M.; Roberts, Amy E.; Seong, Ihn Sik; Fan, Xueping; Lage, Kasper; Lu, Lily Y.; Tao, Joanna; Hu, Xuchen; Berezney, Ronald; Gelb, Bruce D.; Kamp, Anna; Moskowitz, Ivan P.; Lacro, Rona... Journal: Human molecular genetics Issue: Volume 24:Number 8(2015:Apr. 15) Page Start: 2375 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗