Yaping Yang
Sun Yat-sen University(CN)Baylor College of Medicine(US)Chinese Academy of Sciences(CN)Sun Yat-sen Memorial Hospital(CN)Jiangsu Center for Collaborative Innovation in Geographical Information Resource Development and Application(CN)Institute of Geographic Sciences and Natural Resources Research(CN)Baylor Genetics(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Cancer Genomics and Diagnostics, Metabolism and Genetic Disorders
Most-Cited Works
- → Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders(2013)1,960 cited
- → Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium(2016)573 cited
- → Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism(2013)299 cited
- → Reanalysis of Clinical Exome Sequencing Data(2019)291 cited
- → Mutations inSYNGAP1Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency(2012)274 cited
- → Molecular diagnostic experience of whole-exome sequencing in adult patients(2015)239 cited