1. CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities. Issue 8 (2nd June 2016) Authors: Leduc, Magalie S.; Niu, Zhiyv; Bi, Weimin; Zhu, Wenmiao; Miloslavskaya, Irene; Chiang, Theodore; Streff, Haley; Seavitt, John R.; Murray, Stephen A.; Eng, Christine; Chan, Audrey; Yang, Yaping; Lalani, Seema R. Journal: American journal of medical genetics Issue: Volume 170:Issue 8(2016) Page Start: 2206 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing. Issue 3 (March 2015) Authors: Yang, Yaping; Muzny, Donna M.; Xia, Fan; Niu, Zhiyv; Person, Richard; Ding, Yan; Ward, Patricia; Braxton, Alicia; Wang, Min; Buhay, Christian; Veeraraghavan, Narayanan; Hawes, Alicia; Chiang, Theodore; Leduc, Magalie; Beuten, Joke; Zhang, Jing; He, Weimin; Scull, Jennifer; Willis, Alecia; Landsve... Journal: Obstetrical & gynecological survey Issue: Volume 70:Issue 3(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. O3‐06‐01: WHOLE EXOME SEQUENCING STUDY IDENTIFIES RARE COPY NUMBER VARIATIONS FOR LATE‐ONSET ALZHEIMER'S DISEASE: THE ALZHEIMER'S DISEASE SEQUENCING PROJECT CASE‐CONTROL ANALYSIS. (1st July 2006) Authors: Jian, Xueqiu; Chiang, Theodore; Worley, Kim C.; Bis, Joshua C.; Destefano, Anita L.; Seshadri, Sudha; Boerwinkle, Eric; Fornage, Myriam; Salerno, William J. Journal: Alzheimer's & dementia Issue: Volume 14:Supplement 7(2018)Part 19 Page Start: P1025 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗