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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

→ Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders(2017)

104 cited

→ Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies(2015)102 cited

→ Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients(2020)96 cited

→ Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures(2019)73 cited