Meredith Wilson
University of Sydney(AU)The University of Sydney(AU)Children's Hospital at Westmead(AU)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Pacific and Southeast Asian Studies, Congenital gastrointestinal and neural anomalies
Most-Cited Works
- → Germline Mutations in the Extracellular Domains of the 55 kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes(1999)1,406 cited
- → PATRIC, the bacterial bioinformatics database and analysis resource(2013)1,330 cited
- → Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation(2021)713 cited
- → Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation(2007)521 cited
- → A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP(2014)370 cited
- → The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy(2012)310 cited