David B. Goldstein

Prince of Wales Hospital — Australia

Biochemistry, Genetics and Molecular Biology · Life Sciences

35h-index8.0kcitations93works5.02yr avg
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Research Topics

Genomics and Rare Diseases(25), Genetics and Neurodevelopmental Disorders(15), Genomic variations and chromosomal abnormalities(12), Epilepsy research and treatment(8), Head and Neck Cancer Studies(8)

Publications82 total

<i>USP25</i> in genetic generalized epilepsy: a gene under scrutiny
Brain·2025· 1 cited
235eP Influence of gut and oral microbiomes on chemotherapy survival status in gastrointestinal cancer patients in Australia
Annals of Oncology·2025
1671 Nomogram for estimation of the locoregional control and survival benefit following post-operative radiation therapy for pN0 oral cavity cancer.
Radiotherapy and Oncology·2025
Pan-cancer <i>N</i> -glycoproteomic atlas of patient-derived xenografts uncovers FAT2 as a therapeutic target for head and neck cancers
2024Open Access
Exome-wide analysis of congenital kidney anomalies reveals new genes and shared architecture with developmental disorders
2024· 1 citedOpen Access
Impact of Postoperative Neck Radiotherapy Volumes on Long‐Term Unstimulated Saliva Flow Following Primary Surgery and Ipsilateral Neck Dissection for Oral Cavity Squamous Cell Carcinoma
Head & Neck·2024Open Access
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Nature Neuroscience·2024· 39 citedOpen Access
Do germline genetic variants influence surgical outcomes in drug-resistant epilepsy?
Epilepsy Research·2024· 2 cited
Radiology–Pathology Concordance and Prognostication of Nodal Features in <scp>pN</scp>+ Oral Cavity Cancer
The Laryngoscope·2024· 2 citedOpen Access
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
Nature Communications·2023· 53 citedOpen Access
<i>SPTSSA</i> variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia
Brain·2023· 33 citedOpen Access
Myosin Mutations and Sudden Sensorineural Hearing Loss: Results of Whole Exome Sequencing
Otology & Neurotology·2022· 1 cited
Concordance of SARS-CoV-2 Antibody Results during a Period of Low Prevalence
mSphere·2022· 1 citedOpen Access
Natural Selection Shapes Codon Usage in the Human Genome
The American Journal of Human Genetics·2022· 2 citedOpen Access
The All of Us Research Program: Data quality, utility, and diversity
Patterns·2022· 302 citedOpen Access
Heterogeneous nuclear ribonucleoprotein U (HNRNPU) safeguards the developing mouse cortex
Nature Communications·2022· 52 citedOpen Access
A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam
Epilepsia·2022· 27 citedOpen Access
Chapter 4. DNA and Human Disease
Yale University Press eBooks·2022
Evidence of Shared Transcriptomic Dysregulation of HNRNPU Deficiency Between 6.5-Week-Old Organoids and Embryonic, but Not Perinatal, Mice
SSRN Electronic Journal·2022Open Access
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions
Human Molecular Genetics·2021· 19 citedOpen Access
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Frequent Co-authors

Ingrid E. Scheffer(17), Erin L. Heinzen(16), Samuel F. Berkovic(15), Slavé Petrovski(8), Chantal Depondt(8), Terence J. O’Brien(8), Dennis Dlugos(7), Daniel H. Lowenstein(7), Sanjay M. Sisodiya(7), Gianpiero L. Cavalleri(6), Peter De Jonghe(6), Sarah Weckhuysen(6), Nicholas Stong(5), Zhong Ren(5), Melanie Bahlo(5), Patrick Cossette(5), Norman Delanty(5), Orrin Devinsky(5), Patrick Kwan(5), Sophie Nicole(5)