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Biology and Biochemistry

D-Index
70
Citations
26678
World Ranking
6865
National Ranking
172

Overview

John B.J. Kwok is a researcher affiliated with the University of Sydney in Australia. Their work spans multiple disciplines, including medicine, biochemistry, genetics, and molecular biology. Within these main fields, they have focused extensively on neurology, molecular biology, physiology, genetics, and psychiatry and mental health.

The scientist's publication record encompasses significant contributions to several topics in neurological disease research. Areas of focus include amyotrophic lateral sclerosis research, Alzheimer's disease research and treatments, Parkinson's disease mechanisms and treatments, genetic associations and epidemiology, epigenetics and DNA methylation, neurological diseases and metabolism, and neurogenetic and muscular disorders research.

Some of John B.J. Kwok's recent published papers are:

  • Cerebral small vessel disease genomics and its implications across the lifespan, 2020, Nature Communications
  • Analysis of DNA methylation associates the cystine-glutamate antiporter SLC7A11 with risk of Parkinson's disease, 2020, Nature Communications
  • Common Genetic Variation Indicates Separate Causes for Periventricular and Deep White Matter Hyperintensities, 2020, Stroke
  • Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders, 2021, Genome Biology
  • CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis, 2020, Brain

John B.J. Kwok frequently collaborates with several scientists, including:

  • Glenda M. Halliday
  • Carol Dobson-Stone
  • Olivier Piguet
  • Peter R. Schofield
  • Nicola J. Armstrong

The primary venues for their publications include:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Alzheimer's & Dementia
  • Nature Communications
  • Brain
  • Molecular Neurodegeneration

Best Publications

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

    M. Hutton;C. L. Lendon;P. Rizzu;M. Baker

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

    L M Mulligan;J B Kwok;C S Healey;M J Elsdon

  • 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;Cornelis Blauwendraat;Costanza L Vallerga;Karl Heilbron

  • Common genetic variants influence human subcortical brain structures.

    Derrek P. Hibar;Jason L. Stein;Jason L. Stein;Miguel E. Renteria;Alejandro Arias-Vasquez

  • The genetic architecture of the human cerebral cortex

    Katrina L. Grasby;Neda Jahanshad;Jodie N. Painter;Lucía Colodro-Conde

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

    Paul M. Thompson;Jason L. Stein;Sarah E. Medland;Derrek P. Hibar

  • Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC.

    Lois M. Mulligan;Lois M. Mulligan;Charis Eng;Catherine S. Healey;David Clayton

  • Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function

    Gail Davies;Max Lam;Sarah E. Harris;Joey W. Trampush

  • Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

    Vivianna M. Van Deerlin;Patrick M A Sleiman;Maria Martinez-Lage;Maria Martinez-Lage;Alice Chen-Plotkin

  • Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949)

    G. Davies;N. Armstrong;J. C. Bis;J. Bressler

  • Frontotemporal dementia and its subtypes: a genome-wide association study

    Raffaele Ferrari;Raffaele Ferrari;Dena G Hernandez;Dena G Hernandez;Michael A Nalls;Jonathan D Rohrer

  • Genetics of dementia

    Clement T Loy;Clement T Loy;Clement T Loy;Peter R Schofield;Peter R Schofield;Anne M Turner;John B J Kwok;John B J Kwok

  • Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations.

    Prudence M. Stanford;Glenda M. Halliday;William S. Brooks;John B. J. Kwok

  • Novel genetic loci associated with hippocampal volume

    Derrek Hibar;Hieab H.H. Adams;Neda Jahanshad;Ganesh Chauhan

  • Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.

    Katrina M. Moore;Jennifer Nicholas;Murray Grossman;Corey T. McMillan

  • Improved precision of epigenetic clock estimates across tissues and its implication for biological ageing

    Qian Zhang;Costanza L. Vallerga;Rosie M. Walker;Tian Lin

  • Genetic architecture of subcortical brain structures in 38,851 individuals

    Claudia L. Satizabal;Claudia L. Satizabal;Claudia L. Satizabal;Hieab H.H. Adams;Derrek Hibar;Charles C. White;Charles C. White

  • GSK3B polymorphisms alter transcription and splicing in Parkinson's disease

    John B. J. Kwok;Marianne Hallupp;Clement T. Loy;Clement T. Loy;Daniel K. Y. Chan

  • Novel genetic loci underlying human intracranial volume identified through genome-wide association

    Hieab H H Adams;Derrek P. Hibar;Vincent Chouraki;Vincent Chouraki;Vincent Chouraki;Jason L. Stein;Jason L. Stein

  • Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype

    J.B.J. Kwok;Kevin Taddei;M. Hallupp;C. Fisher

Frequent Co-Authors

Peter R. Schofield
Peter R. Schofield Neuroscience Research Australia
Glenda M. Halliday
Glenda M. Halliday University of Sydney
Carol Dobson-Stone
Carol Dobson-Stone University of Sydney
Perminder S. Sachdev
Perminder S. Sachdev University of New South Wales
Nicola J. Armstrong
Nicola J. Armstrong Murdoch University
John R. Hodges
John R. Hodges University of Sydney
David Ames
David Ames University of Melbourne
Henry Brodaty
Henry Brodaty University of New South Wales
Margaret J. Wright
Margaret J. Wright University of Queensland
Olivier Piguet
Olivier Piguet University of Sydney

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