N A J Med Sci. 2014;7(4)


139
The Application of Whole-Exome Sequencing in Diagnosing Pediatric Rare Disease in Hong Kong
Christopher CY Mak, MBChB; Dingge Ying, PhD; Ka Chun Leung, BSc, MPhil; Pamela PW Lee, MBBS; Jing Yang, PhD; Wanling Yang, PhD; Brian HY Chung, MBBS, FCCMG; Yu-Lung Lau, MD
.
148
Challenges in Prenatal Cytogenomic Microarray Reporting: Balancing Laboratory Findings, Clinical Utility and Patient Anxiety
Li E. Cheng, PhD; Arun Wiita, MD, PhD; Zhongxia Qi, PhD; Jingwei Yu, MMed, PhD
.
156
RNA Sequencing and its Applications in Cancer Diagnosis and Targeted Therapy
Mimi Wan, MD, PhD; Jianhui Wang, PhD; Xiaobin Gao, MPh; Jeffery Sklar, MD, PhD
.
163
Navigating Web-Based Resources for Genetic Testing of Chromosome Abnormalities, CNVs and Gene Mutations
Bixia Xiang, PhD; Fang Xu, PhD; Wenqi Zeng, MD, PhD; Dan Zi, MD; Deqiong Ma, MD, PhD
.
171
A 420 Kb Deletion within the Minimum Critical Region of the 15q24 Microdeletion Syndrome in a Female Infant
Deling Li, MD, PhD; Olaf A Bodamer, MD, PhD; Yao-Shan Fan, MD, PhD
.
176
Prenatal Diagnosis of Xq26.1-q26.3 Duplication in Two Fetuses of a Woman with Gonadal Mosaicism
Stacy Cook, BS; Katherine Wilcox, BS; Brittany Grommisch, BS; Peining Li, PhD; Fang Xu, PhD
.
180
A Pilot Study of Next-Generation Sequencing on Cell-Free DNA from Blood Plasma and Bone Marrow Fluid for Detecting Leukemic Clonal Abnormalities
Qinghua Zhou, PhD; Taiwo Togun, PhD; Peining Li, PhD; Zongzhi Liu, PhD2
.
186
Improving Quality of Genetic Testing through Participation in International Proficiency Testing Programs
Jingkun Miao, MS; Xi Chen, MS; Yuanyuan Chen, BS; Chaowen Yu, MS; Lin Zou, MD, PhD; Liming Bao, MD, PhD
.
189
Tertiary Education System for Genetic Technologists, Counselors and Specialists
Peining Li, PhD; Katherine Wilcox, BS; Peter C Hu, PhD; Randi E. Zinberg, MS; Chunli Yu, MD; Marilyn M. Li, MD; Liming Bao, MD, PhD; Bai-Lin Wu, MM, PhD
.
194
On the Globalization and Standardization of Medical Genetics and Genomics as Clinical and Laboratory Specialties
Hui Zhang, MD, PhD; Jingwei Yu, MM, PhD; Qi Ming, PhD; Liming Bao, MD, PhD; Bai-Lin Wu, MM, PhD; Peining Li, PhD
.
199
Toward Best Practice in Using Molecular Diagnosis to Guide Medical Management, Are We There Yet?
Anne Chun-Hui Tsai, MD; Xuezhong Liu, MD, PhD
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