1. Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data. (October 2018) Authors: Gibson, Kristin McDonald; Nesbitt, Addie; Cao, Kajia; Yu, Zhenming; Denenberg, Elizabeth; DeChene, Elizabeth; Guan, Qiaoning; Bhoj, Elizabeth; Zhou, Xiangdong; Zhang, Bo; Wu, Chao; Dubbs, Holly; Wilkens, Alisha; Medne, Livija; Bedoukian, Emma; White, Peter S; Pennington, Jeffrey; Lou, Minjie; Con... Journal: Genetics in medicine Issue: Volume 20:Number 10(2018) Page Start: 1298 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Diploid/triploid mixoploidy: A consequence of asymmetric zygotic segregation of parental genomes. Issue 12 (10th October 2018) Authors: Carson, Jason C.; Hoffner, Lori; Conlin, Laura; Parks, W. Tony; Fisher, Rosemary A.; Spinner, Nancy; Yatsenko, Svetlana A.; Bonadio, Jeffrey; Surti, Urvashi Journal: American journal of medical genetics Issue: Volume 176:Issue 12(2018) Page Start: 2720 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data. (November 2018) Authors: Gibson, Kristin McDonald; Nesbitt, Addie; Cao, Kajia; Yu, Zhenming; Denenberg, Elizabeth; DeChene, Elizabeth; Guan, Qiaoning; Bhoj, Elizabeth; Zhou, Xiangdong; Zhang, Bo; Wu, Chao; Dubbs, Holly; Wilkens, Alisha; Medne, Livija; Bedoukian, Emma; White, Peter S; Pennington, Jeffrey; Luo, Minjie; Con... Journal: Genetics in medicine Issue: Volume 20:Number 11(2018) Page Start: 1486 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss. (December 2018) Authors: Sheppard, Sarah; Biswas, Sawona; Li, Mindy; Jayaraman, Vijayakumar; Slack, Ian; Romasko, Edward; Sasson, Ariella; Brunton, Joshua; Rajagopalan, Ramakrishnan; Sarmady, Mahdi; Abrudan, Jenica; Jairam, Sowmya; DeChene, Elizabeth; Ying, Xiahoan; Choi, Jiwon; Wilkens, Alisha; Raible, Sarah; Scarano, M... Journal: Genetics in medicine Issue: Volume 20:Number 12(2018) Page Start: 1663 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss. (December 2018) Authors: Guan, Qiaoning; Balciuniene, Jorune; Cao, Kajia; Fan, Zhiqian; Biswas, Sawona; Wilkens, Alisha; Gallo, Daniel; Bedoukian, Emma; Tarpinian, Jennifer; Jayaraman, Pushkala; Sarmady, Mahdi; Dulik, Matthew; Santani, Avni; Spinner, Nancy; Abou Tayoun, Ahmad; Krantz, Ian; Conlin, Laura; Luo, Minjie Journal: Genetics in medicine Issue: Volume 20:Number 12(2018) Page Start: 1600 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. Issue 1 (December 2015) Authors: Li, Mindy; Abrudan, Jenica; Dulik, Matthew; Sasson, Ariella; Brunton, Joshua; Jayaraman, Vijayakumar; Dugan, Noreen; Haley, Danielle; Rajagopalan, Ramakrishnan; Biswas, Sawona; Sarmady, Mahdi; DeChene, Elizabeth; Deardorff, Matthew; Wilkens, Alisha; Noon, Sarah; Scarano, Maria; Santani, Avni; Whi... Journal: Human genomics Issue: Volume 9:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Serum biomarkers correlated with liver stiffness assessed in a multicenter study of pediatric cholestatic liver disease. Issue 2 (3rd February 2023) Authors: Leung, Daniel H.; Devaraj, Sridevi; Goodrich, Nathan P.; Chen, Xinpu; Rajapakshe, Deepthi; Ye, Wen; Andreev, Victor; Minard, Charles G.; Guffey, Danielle; Molleston, Jean P.; Bass, Lee M.; Karpen, Saul J.; Kamath, Binita M.; Wang, Kasper S.; Sundaram, Shikha S.; Rosenthal, Philip; McKiernan, Patr... Journal: Hepatology Issue: Volume 77:Issue 2(2023) Page Start: 530 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗