Audrey Smith
St Mary's Hospital(GB)Manchester University NHS Foundation Trust(GB)St Mary's Hospital(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Chromatin Dynamics, Epigenetics and DNA Methylation
Most-Cited Works
- → How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum(2011)180 cited
- → Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families(2015)162 cited
- → Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation(2017)158 cited
- → Not all SCN1A epileptic encephalopathies are Dravet syndrome(2017)125 cited
- → Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study(2021)85 cited
- → Protein structure and phenotypic analysis of pathogenic and population missense variants inSTXBP1(2017)38 cited