Amanda Thomas‐Wilson
New York Genome Center(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Prenatal Screening and Diagnostics, Metabolism and Genetic Disorders, Genomic variations and chromosomal abnormalities, Retinal Development and Disorders
Most-Cited Works
- → Best practices for the interpretation and reporting of clinical whole genome sequencing(2022)144 cited
- → A Versatile Method for Cell-Specific Profiling of Translated mRNAs in Drosophila(2012)134 cited
- → Causal Genetic Variants in Stillbirth(2020)130 cited
- → The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change(2023)121 cited
- → Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene(2018)69 cited
- → Tailless and Atrophin control Drosophila aggression by regulating neuropeptide signalling in the pars intercerebralis(2014)64 cited
- → Of Fighting Flies, Mice, and Men: Are Some of the Molecular and Neuronal Mechanisms of Aggression Universal in the Animal Kingdom?(2015)41 cited
- → Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients(2023)37 cited
- → Effect of dietary lysine restriction and arginine supplementation in two patients with pyridoxine-dependent epilepsy(2016)35 cited
- → CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity(2021)30 cited