scispace - formally typeset
J

John B.J. Kwok

Researcher at University of Sydney

Publications -  198
Citations -  18054

John B.J. Kwok is an academic researcher from University of Sydney. The author has contributed to research in topics: Frontotemporal dementia & Genome-wide association study. The author has an hindex of 51, co-authored 184 publications receiving 15117 citations. Previous affiliations of John B.J. Kwok include Mayo Clinic & University of Cambridge.

Papers
More filters
Journal ArticleDOI

Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17

TL;DR: In this paper, the authors sequenced tau in FTDP-17 families and identified three missense mutations (G272V, P301L and R406W) and three mutations in the 5' splice site of exon in
Journal ArticleDOI

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A

TL;DR: This work has identified missense mutations of the RET proto-oncogene in 20 of 23 apparently distinct MEN 2A families, but not in 23 normal controls, and found that 19 of these 20 mutations affect the same conserved cysteine residue at the boundary of theRET extracellular and transmembrane domains.
Journal ArticleDOI

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

Mike A. Nalls, +248 more
- 01 Dec 2019 - 
TL;DR: These data provide the most comprehensive survey of genetic risk within Parkinson's disease to date, providing a biological context for these risk factors, and showing that a considerable genetic component of this disease remains unidentified.
Journal ArticleDOI

Common genetic variants influence human subcortical brain structures.

Derrek P. Hibar, +344 more
- 09 Apr 2015 - 
TL;DR: In this paper, the authors conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts.
Journal ArticleDOI

The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

Paul M. Thompson, +332 more
TL;DR: The ENIGMA Consortium has detected factors that affect the brain that no individual site could detect on its own, and that require larger numbers of subjects than any individual neuroimaging study has currently collected.