1. A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history. Issue 2 (21st December 2017) Authors: Jeffries, Lauren; Shima, Hirohito; Ji, Weizhen; Panisello‐Manterola, David; McGrath, James; Bird, Lynne M.; Konstantino, Monica; Narumi, Satoshi; Lakhani, Saquib Journal: American journal of medical genetics Issue: Volume 176:Issue 2(2018) Page Start: 415 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A randomized controlled trial of levodopa in patients with Angelman syndrome. Issue 5 (25th September 2017) Authors: Tan, Wen‐Hann; Bird, Lynne M.; Sadhwani, Anjali; Barbieri‐Welge, Rene L.; Skinner, Steven A.; Horowitz, Lucia T.; Bacino, Carlos A.; Noll, Lisa M.; Fu, Cary; Hundley, Rachel J.; Wink, Logan K.; Erickson, Craig A.; Barnes, Gregory N.; Slavotinek, Anne; Jeremy, Rita; Rotenberg, Alexander; Kothare, ... Journal: American journal of medical genetics Issue: Volume 176:Issue 5(2018) Page Start: 1099 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A unique pancreatic phenotype in a child with a WDR19‐related ciliopathy: A case report and literature review of pancreatic involvement in ciliopathies. Issue 7 (1st April 2022) Authors: Keyser, Michelle Nguyen; Huang, Maria; Newton, Kimberly; Benador, Nadine; Beauchamp‐Walters, Julia; Bird, Lynne M. Journal: American journal of medical genetics Issue: Volume 188:Issue 7(2022) Page Start: 2242 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Angelman syndrome: Current and emerging therapies in 2016. Issue 4 (8th November 2016) Authors: Tan, Wen‐Hann; Bird, Lynne M. Other Names: Tan Wen‐Hann guestEditor.; Bird Lynne M. guestEditor. Journal: American journal of medical genetics Issue: Volume 172:Issue 4(2016) Page Start: 384 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Defining the phenotypic spectrum of SLC6A1 mutations. (8th January 2018) Authors: Johannesen, Katrine M.; Gardella, Elena; Linnankivi, Tarja; Courage, Carolina; de Saint Martin, Anne; Lehesjoki, Anna‐Elina; Mignot, Cyril; Afenjar, Alexandra; Lesca, Gaetan; Abi‐Warde, Marie‐Thérèse; Chelly, Jamel; Piton, Amélie; Merritt, J. Lawrence; Rodan, Lance H.; Tan, Wen‐Hann; Bird, Lynne ... Journal: Epilepsia Issue: Volume 59:issue 2(2018) Page Start: 389 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Delta power robustly predicts cognitive function in Angelman syndrome. Issue 7 (28th May 2021) Authors: Ostrowski, Lauren M.; Spencer, Elizabeth R.; Bird, Lynne M.; Thibert, Ronald; Komorowski, Robert W.; Kramer, Mark A.; Chu, Catherine J. Journal: Annals of clinical and translational neurology Issue: Volume 8:Issue 7(2021) Page Start: 1433 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning. Issue 9 (11th June 2020) Authors: Gomez, Diego A.; Bird, Lynne M.; Fleischer, Nicole; Abdul‐Rahman, Omar A. Journal: American journal of medical genetics Issue: Volume 182:Issue 9(2020) Page Start: 2021 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Effects of MetAP2 inhibition on hyperphagia and body weight in Prader–Willi syndrome: A randomized, double‐blind, placebo‐controlled trial. Issue 12 (13th July 2017) Authors: McCandless, Shawn E.; Yanovski, Jack A.; Miller, Jennifer; Fu, Cary; Bird, Lynne M.; Salehi, Parisa; Chan, Christine L.; Stafford, Diane; Abuzzahab, M. Jennifer; Viskochil, David; Barlow, Sarah E.; Angulo, Moris; Myers, Susan E.; Whitman, Barbara Y.; Styne, Dennis; Roof, Elizabeth; Dykens, Elisab... Journal: Diabetes, obesity & metabolism Issue: Volume 19:Issue 12(2017) Page Start: 1751 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome. Issue 7 (2nd June 2021) Authors: Friedman, Jennifer; Bird, Lynne M.; Haas, Richard; Robbins, Shira L.; Nahas, Shareef A.; Dimmock, David P.; Yousefzadeh, Matthew J.; Witt, Mariah A.; Niedernhofer, Laura J.; Chowdhury, Shimul Journal: Molecular genetics & genomic medicine Issue: Volume 9:Issue 7(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia. Issue 8 (23rd June 2020) Authors: Rohanizadegan, Mersedeh; Tracy, Sarah; Galarreta, Carolina I.; Poorvu, Tabitha; Buchmiller, Terry L.; Bird, Lynne M.; Estroff, Judy A.; Tan, Wen‐Hann Journal: American journal of medical genetics Issue: Volume 182:Issue 8(2020) Page Start: 1890 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗