Whole exome sequencing of families with 1q21.1 microdeletion or microduplication期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Whole exome sequencing of families with 1q21.1 microdeletion or microduplication

Authors:	Ying Qiao Chansonette Badduke Flamingo Tang David Cowieson Sally Martell Suzanne M. E. Lewis Maria S. Peñaherrera Wendy P. Robinson Allen Volchuk Evica Rajcan‐Separovic

Affiliation:	1. Department of Pathology, University of British Columbia (UBC), Vancouver, British Columbia, Canada;2. BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada;3. Division of Advanced Diagnostics‐Metabolism Toronto General Research Institute, University Health Network, Toronto, Ontario, Canada;4. Department of Medical Genetics, UBC, Vancouver, British Columbia, Canada;5. Keenan Research Centre for Biomedical Science, St. Michael's Hospital, Toronto, Ontario, Canada

Abstract:

Keywords:	1q21 microdeletions/microduplications copy number variants (CNVs) ER stress response phenotypic variability sequence variants whole exome sequencing (WES)