Zöe Powis
Quest Diagnostics (United Kingdom)(GB)Quest Diagnostics (United States)(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genetic Neurodegenerative Diseases, RNA modifications and cancer
Most-Cited Works
- → Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions(2014)464 cited
- → Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy(2016)357 cited
- → YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction(2017)165 cited
- → Mouse screen reveals multiple new genes underlying mouse and human hearing loss(2019)119 cited
- → Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications(2017)115 cited
- → POGZ truncating alleles cause syndromic intellectual disability(2016)106 cited