List of works - Kin Y Mok

A genome-wide association study in multiple system atrophy

scientific article published on 14 September 2016

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

scientific article

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

scientific article

Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance

scientific article

Aging related cognitive changes associated with Alzheimer's disease in Down syndrome.

scientific article

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Association of Dementia With Mortality Among Adults With Down Syndrome Older Than 35 Years

scientific article published on 01 February 2019

Astrogliopathy predominates the earliest stage of corticobasal degeneration pathology

scientific article

Behavioral variant frontotemporal lobar degeneration with amyotrophic lateral sclerosis with a chromosome 9p21 hexanucleotide repeat

scientific article published in 2012

Cerebral venous thrombosis in Hong Kong.

scientific article published on January 2001

Chromosome 9 ALS and FTD locus is probably derived from a single founder

scientific article published on 16 September 2011

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

scientific article published on October 2010

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.

scientific article published on March 2012

Cognitive markers of preclinical and prodromal Alzheimer's disease in Down syndrome

scientific article published on 28 November 2018

Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data

scientific article

Evidence that PICALM affects age at onset of Alzheimer's dementia in Down syndrome

scientific article published on 18 April 2013

Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion

scientific article

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

scientific article

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

scientific article

Fulminant corticobasal degeneration: a distinct variant with predominant neuronal tau aggregates

scientific article published on 16 January 2020

Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel

scientific article

HLA-DRB*1501 associations with magnetic resonance imaging measures of grey matter pathology in multiple sclerosis

scientific article published on 7 March 2016

High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients.

scientific article published on 22 March 2012

Homozygosity analysis in amyotrophic lateral sclerosis

scientific article published on 24 April 2013

Identification of genetic risk factors in the Chinese population implicates a role of immune system in Alzheimer's disease pathogenesis

scientific article published on 5 February 2018

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

scientific article published on 14 September 2012

Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population

scientific article published on 11 October 2016

Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome.

scientific article

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

scientific article published on 17 May 2017

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

scientific article

Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain

scientific article published on 10 July 2020

Plasma biomarkers for amyloid, tau, and cytokines in Down syndrome and sporadic Alzheimer's disease

scientific article published on 21 March 2019

Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome

scientific article published on 27 December 2013

Response to the commentary of Yates RL and DeLuca GC on the study: HLA-DRB1*1501 associations with magnetic resonance imaging measures of grey matter pathology in multiple sclerosis.

scientific article published on 12 August 2016

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion

scientific article

Screening for C9ORF72 repeat expansion in FTLD.

scientific article published on 27 March 2012

The importance of understanding individual differences in Down syndrome

scientific article

Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2.

scientific article

List of works by Kin Y Mok

A genome-wide association study in multiple system atrophy

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance

Aging related cognitive changes associated with Alzheimer's disease in Down syndrome.

Analysis of shared heritability in common disorders of the brain

Association of Dementia With Mortality Among Adults With Down Syndrome Older Than 35 Years

Astrogliopathy predominates the earliest stage of corticobasal degeneration pathology

Behavioral variant frontotemporal lobar degeneration with amyotrophic lateral sclerosis with a chromosome 9p21 hexanucleotide repeat

Cerebral venous thrombosis in Hong Kong.

Chromosome 9 ALS and FTD locus is probably derived from a single founder

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.

Cognitive markers of preclinical and prodromal Alzheimer's disease in Down syndrome

Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data

Evidence that PICALM affects age at onset of Alzheimer's dementia in Down syndrome

Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

Fulminant corticobasal degeneration: a distinct variant with predominant neuronal tau aggregates

Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel

HLA-DRB*1501 associations with magnetic resonance imaging measures of grey matter pathology in multiple sclerosis

High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients.

Homozygosity analysis in amyotrophic lateral sclerosis

Identification of genetic risk factors in the Chinese population implicates a role of immune system in Alzheimer's disease pathogenesis

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population

Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome.

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain

Plasma biomarkers for amyloid, tau, and cytokines in Down syndrome and sporadic Alzheimer's disease

Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome

Response to the commentary of Yates RL and DeLuca GC on the study: HLA-DRB1*1501 associations with magnetic resonance imaging measures of grey matter pathology in multiple sclerosis.

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion

Screening for C9ORF72 repeat expansion in FTLD.

The importance of understanding individual differences in Down syndrome

Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2.

Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype