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. 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) ↗
3. Exome sequencing expands the mechanism of SOX5‐associated intellectual disability: A case presentation with review of sox‐related disorders. (25th June 2015) Authors: Nesbitt, Addie; Bhoj, Elizabeth J.; McDonald Gibson, Kristin; Yu, Zhenming; Denenberg, Elizabeth; Sarmady, Mahdi; Tischler, Tanya; Cao, Kajia; Dubbs, Holly; Zackai, Elaine H.; Santani, Avni Journal: American journal of medical genetics Issue: Volume 167:Number 11(2015:Nov.) Page Start: 2548 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis. Issue 10 (5th August 2013) Authors: Gripp, Karen W.; Zand, Dina J.; Demmer, Laurie; Anderson, Carol E.; Dobyns, William B.; Zackai, Elaine H.; Denenberg, Elizabeth; Jenny, Kim; Stabley, Deborah L.; Sol‐Church, Katia Journal: American journal of medical genetics Issue: Volume 161:Issue 10(2013:Oct.) Page Start: 2420 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗