1. CDH23 Related Hearing Loss: A New Genetic Risk Factor for Semicircular Canal Dehiscence?. Issue 10 (December 2016) Authors: Noonan, Kathryn Y.; Russo, Jack; Shen, Jun; Rehm, Heidi; Halbach, Sara; Hopp, Einar; Noon, Sarah; Hoover, Jacqueline; Eskey, Clifford; Saunders, James E. Journal: Otology & neurotology Issue: Volume 37:Issue 10(2016) Page Start: 1583 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. CDH23 Related Hearing Loss: A New Genetic Risk Factor for Semicircular Canal Dehiscence?. Issue 10 (December 2016) Authors: Noonan, Kathryn Y.; Russo, Jack; Shen, Jun; Rehm, Heidi; Halbach, Sara; Hopp, Einar; Noon, Sarah; Hoover, Jacqueline; Eskey, Clifford; Saunders, James E. Journal: Otology & neurotology Issue: Volume 37:Issue 10(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers. (August 2018) Authors: Sanghvi, Rashesh; Buhay, Christian; Powell, Bradford; Tsai, Ellen; Dorschner, Michael; Hong, Celine; Lebo, Matthew; Sasson, Ariella; Hanna, David; McGee, Sean; Bowling, Kevin; Cooper, Gregory; Gray, David; Lonigro, Robert; Dunford, Andrew; Brennan, Christine; Cibulskis, Carrie; Walker, Kimberly; ... Journal: Genetics in medicine Issue: Volume 20:Number 8(2018) Page Start: 855 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants. Issue 1 (December 2017) Authors: Patel, Ronak; Shah, Neethu; Jackson, Andrew; Ghosh, Rajarshi; Pawliczek, Piotr; Paithankar, Sameer; Baker, Aaron; Riehle, Kevin; Chen, Hailin; Milosavljevic, Sofia; Bizon, Chris; Rynearson, Shawn; Nelson, Tristan; Jarvik, Gail; Rehm, Heidi; Harrison, Steven; Azzariti, Danielle; Powell, Bradford; ... Journal: Genome medicine Issue: Volume 9:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge. Issue 10 (6th August 2015) Authors: Kirkpatrick, Brianne E.; Riggs, Erin Rooney; Azzariti, Danielle R.; Miller, Vanessa Rangel; Ledbetter, David H.; Miller, David T.; Rehm, Heidi; Martin, Christa Lese; Faucett, W. Andrew; On Behalf of the ClinGen Resource Journal: Human mutation Issue: Volume 36:Issue 10(2015:Oct.) Page Start: 974 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease. Issue 5 (10th May 2015) Authors: Chopra, Sameer S.; Leshchiner, Ignaty; Duzkale, Hatice; McLaughlin, Heather; Giovanni, Monica; Zhang, Chengsheng; Stitziel, Nathan; Fingeroth, Joyce; Joyce, Robin M.; Lebo, Matthew; Rehm, Heidi; Vuzman, Dana; Maas, Richard; Sunyaev, Shamil R.; Murray, Michael; Cassa, Christopher A. Journal: Molecular genetics & genomic medicine Issue: Volume 3:Issue 5(2015:Sep.) Page Start: 413 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Registered access: authorizing data access. (December 2018) Authors: Dyke, Stephanie; Linden, Mikael; Lappalainen, Ilkka; Argila, Jordi; Carey, Knox; Lloyd, David; Spalding, J.; Cabili, Moran; Kerry, Giselle; Foreman, Julia; Cutts, Tim; Shabani, Mahsa; Rodriguez, Laura; Haeussler, Maximilian; Walsh, Brian; Jiang, Xiaoqian; Wang, Shuang; Perrett, Daniel; Boughtwood... Journal: European journal of human genetics Issue: Volume 26:Number 12(2018) Page Start: 1721 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Response to Biesecker and Harrison. (December 2018) Authors: Richards, C; Aziz, Nazneen; Bale, Sherri; Bick, David; Das, Soma; Gastier-Foster, Julie; Grody, Wayne; Hegde, Madhuri; Lyon, Elaine; Spector, Elaine; Voelkerding, Karl; Rehm, Heidi Journal: Genetics in medicine Issue: Volume 20:Number 12(2018) Page Start: 1689 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial. (December 2018) Authors: Christensen, Kurt; Vassy, Jason; Phillips, Kathryn; Blout, Carrie; Azzariti, Danielle; Lu, Christine; Robinson, Jill; Lee, Kaitlyn; Douglas, Michael; Yeh, Jennifer; Machini, Kalotina; Stout, Natasha; Rehm, Heidi; McGuire, Amy; Green, Robert; Dukhovny, Dmitry Journal: Genetics in medicine Issue: Volume 20:Number 12(2018) Page Start: 1544 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Toward Genetics-Driven Early Intervention in Dilated Cardiomyopathy: Design and Implementation of the DCM Precision Medicine Study. (December 2017) Authors: Kinnamon, Daniel D.; Morales, Ana; Bowen, Deborah J.; Burke, Wylie; Hershberger, Ray E.; Gastier-Foster, Julie M.; Nickerson, Deborah A.; Dorschner, Michael O.; Haas, Garrie; Abraham, William; Binkley, Philip; Hasan, Ayesha; Host, Jennifer; Lampert, Brent; Smith, Sakima; Huggins, Gordon; DeNofrio... Journal: Circulation Issue: Volume 10:Number 6(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗