David B. Goldstein
Prince of Wales Hospital(AU)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Epilepsy research and treatment, Head and Neck Cancer Studies
Most-Cited Works
- → Guidelines for investigating causality of sequence variants in human disease(2014)1,267 cited
- → Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study(2019)593 cited
- → Genome-Wide Transcript Profiles in Aging and Calorically Restricted Drosophila melanogaster(2002)577 cited
- → Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies(2018)499 cited
- → De novo mutations in ATP1A3 cause alternating hemiplegia of childhood(2012)418 cited
- → The All of Us Research Program: Data quality, utility, and diversity(2022)314 cited
- → KCNT1gain of function in 2 epilepsy phenotypes is reversed by quinidine(2014)294 cited
- → Ultra-rare genetic variation in common epilepsies: a case-control sequencing study(2017)234 cited
- → Quinidine in the treatment ofKCNT1‐positive epilepsies(2015)221 cited
- → Y Chromosomes Traveling South: The Cohen Modal Haplotype and the Origins of the Lemba—the “Black Jews of Southern Africa”(2000)187 cited