Faculty Profiles - MOK Kin Ying Boniface | The Hong Kong University of Science and Technology

Kin Ying Boniface MOK
莫健英

PhD in Neurogenetics
University College London, 2013

Clinical Professor
Division of Life Science

(852) 3469 3416
mok@ust.hk
Room 5486

ORCID

0000-0003-3145-880X

ResearcherID

F-5860-2012

Scopus ID

36437536800

Research Interest

Neuroscience
Neurodegenerative disease
Genetics

Publications

2025 3

An ABCA1 missense variant decreases cholesterol efflux and confers Alzheimer's disease risk in the Chinese population

Journal of Alzheimer's Disease, v. 106, (3), p. 996-1009
Liu, Sze Kei; Cao, Han; Yang, Xin; Zhou, Xiaopu; Chen, Yu; Fu, Wing Yu; Chan, San Yuen; Ip, Fanny C.F.; Mok, Kin Y.; Mok, Vincent C.T.; Kwok, Timothy C.Y.; Hardy, John; Fu, Amy K.Y.; Ip, Nancy Y.
Article

The TREM2 H157Y variant is associated with more severe neurodegeneration in Alzheimer's disease and altered immune-related processes

Alzheimer's and Dementia, v. 21, (9), article number e70586
Tsui, Jackie Shuk Man; Au, Danise M.; Uhm, Hyebin; Wong, Wan wa; Lo, Ronnie Ming Nok; Jiang, Yuanbing; Ip, Fanny C.F.; Mok, Kin Y.; Wong, Hiu Yi; Kwok, Timothy C.Y.; FU, Kit Yu; Ip, Nancy Y.
Article

Transethnic analysis identifies SORL1 variants and haplotypes protective against Alzheimer's disease

Alzheimer's and Dementia, v. 21, (1), article number e14214
Alzheimer's Disease Neuroimaging Initiative; Zhou, Xiaopu; CAO, Han; JIANG, Yuanbing; CHEN, Yuewen; ZHONG, Huan; FU, Wing Yu; Lo, Ronnie M.N; WONG, Bonnie W.Y.; CHENG, Elaine Y.L.; MOK, Kin Ying Boniface; Kwok, Timothy C.Y.; Mok, Vincent C.T.; IP, Fanny Chui Fun; Miyashita, Akinori; Hara, Norikazu; Ikeuchi, Takeshi; Hardy, John; CHEN, Yu; FU, Amy K.Y.; Ip, Nancy Y.
Article

2024 5

A blood-based multi-pathway biomarker assay for early detection and staging of Alzheimer's disease across ethnic groups

Alzheimer's and Dementia, v. 20, (3), p. 2000-2015
JIANG, Yuanbing; UHM, Hyebin; IP, Fanny Chui Fun; Ouyang, Li; LO, Ming Nok; CHENG, Yee Ling; Cao, Xiaoyun; Tan, Clara M.C.; Law, Brian C.H.; Ortiz-Romero, Paula; Puig-Pijoan, Albert; Fernández-Lebrero, Aida; Contador, José; MOK, Kin Ying Boniface; Hardy, John; Kwok, Timothy C.Y.; Mok, Vincent C.T.; Suárez-Calvet, Marc; Zetterberg, Henrik; Fu, Amy K.Y.; Ip, Nancy Y.
Article

Editorial: Genetics and biomarkers of Alzheimer's disease in Asian populations

Frontiers in Neuroscience, v. 18, (1), article number 1357783
Zhou, Xiaopu; MOK, Kin Ying Boniface; Fu, Amy K.Y.
Article

Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes

Nature Communications, v. 15, (1), article number 7880
PSP Genetics Study Group; Farrell, Kurt; Humphrey, Jack; Chang, Timothy; Zhao, Yi; Leung, Yuk Yee; Kuksa, Pavel P.; Patil, Vishakha; Lee, Wan Ping; Kuzma, Amanda B.; Valladares, Otto; Cantwell, Laura B.; Wang, Hui; Ravi, Ashvin; De Sanctis, Claudia; Han, Natalia; Christie, Thomas D.; Afzal, Robina; Kandoi, Shrishtee; Whitney, Kristen; Krassner, Margaret M.; Ressler, Hadley; Kim, Soong Ho; Dangoor, Diana; Iida, Megan A.; Casella, Alicia; Walker, Ruth H.; Nirenberg, Melissa J.; Renton, Alan E.; Babrowicz, Bergan; Coppola, Giovanni; Raj, Towfique; Höglinger, Günter U.; Müller, Ulrich; Golbe, Lawrence I.; Morris, Huw R.; Hardy, John; Revesz, Tamas; Warner, Tom T.; Jaunmuktane, Zane; Mok, Kin Y.; Rademakers, Rosa; Dickson, Dennis W.; Ross, Owen A.; Wang, Li San; Goate, Alison; Schellenberg, Gerard; Geschwind, Daniel H.; Crary, John F.; Naj, Adam C.
Article

MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study

The Lancet Neurology, v. 23, (5), p. 487-499
Pick's disease International Consortium; Mok, Kin
Article

Using blood transcriptome analysis for Alzheimer's disease diagnosis and patient stratification

Alzheimer's and Dementia, v. 20, (4), p. 2469-2484
ZHONG, Huan; Zhou, Xiaopu; UHM, Hyebin; JIANG, Yuanbing; CAO, Han; CHEN, Yu; MAK, Tze Wing Tiffany; LO, Ming Nok; WONG, Wing Yan; CHENG, Yee Ling; MOK, Kin Ying Boniface; Chan, Andrew Lung Tat; Kwok, Timothy C.Y.; Mok, Vincent C.T.; IP, Fanny Chui Fun; Hardy, John; Fu, Amy K.Y.; Ip, Nancy Y.
Article

2023 2

Deep learning-based polygenic risk analysis for Alzheimer’s disease prediction

Communications Medicine, v. 3, (1), article number 49
Alzheimer's Disease Neuroimaging Initiative; Zhou, Xiaopu; Chen, Yu; Ip, Fanny C.F.; Jiang, Yuanbing; Cao, Han; Lv, Ge; Zhong, Huan; Chen, Jiahang; Ye, Tao; Chen, Yuewen; Zhang, Yulin; Ma, Shuangshuang; Lo, Ronnie M.N.; Tong, Estella P.S.; Mok, Kin Y.; Chen, Lei; Fu, Amy K.Y.; Ip, Nancy Y.
Article

Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2)

npj Parkinson's Disease, v. 9, (1), article number 100
the Global Parkinson’s Genetic Program (GP2); Lange, Lara M.; Avenali, Micol; Ellis, Melina; Illarionova, Anastasia; Keller Sarmiento, Ignacio J.; Tan, Ai Huey; Madoev, Harutyun; Galandra, Caterina; Junker, Johanna; Roopnarain, Karisha; Solle, Justin; Wegel, Claire; Fang, Zih Hua; Heutink, Peter; Kumar, Kishore R.; Lim, Shen Yang; Valente, Enza Maria; Nalls, Mike; Blauwendraat, Cornelis; Singleton, Andrew; Mencacci, Niccolo; Lohmann, Katja; Klein, Christine; IP, Nancy Yuk-Yu; CHAN, Yin Cheung Phillip; ZHOU, Xiaopu; MOK, Kin Ying Boniface
Article

2022 4

An IL1RL1 genetic variant lowers soluble ST2 levels and the risk effects of APOE-ε4 in female patients with Alzheimer’s disease

Nature Aging, v. 2, (7), p. 616-634
Alzheimer’s Disease Neuroimaging Initiative; JIANG, Yuanbing; Zhou, Xiaopu; Wong, Hiu Yi; OUYANG, Li; IP, Fanny Chui Fun; CHAU, Vicky M.N.; LAU, Shun Fat; WU, Wei; WONG, Daniel Y.K.; SEO, Heukjin; FU, Wing Yu; LAI, Nicole C.H.; CHEN, Yuewen; CHEN, Yu; TONG, Estella P.S.; MOK, Kin Ying Boniface; Fu, Amy K.Y.; Ip, Nancy Y.
Article

Demographics and Medication Use of Patients with Late-Onset Alzheimer's Disease in Hong Kong

Journal of Alzheimer's Disease, v. 87, (3), p. 1205-1213
Wong, Hiu Yi; ZHONG, Huan; ZHONG, Mingqian; Zhou, Xiaopu; CHAN, Yin Cheung Phillip; Kwok, Timothy C.Y.; MOK, Kin Ying Boniface; Hardy, John; IP, Fanny Chui Fun; Fu, Amy K.Y.; Ip, Nancy Y.
Article

Large-scale plasma proteomic profiling identifies a high-performance biomarker panel for Alzheimer's disease screening and staging

Alzheimer's and Dementia, v. 18, (1), p. 88-102
Jiang, Yuanbing; Zhou, Xiaopu; Ip, Fanny C.; Chan, Philip; Chen, Yu; Lai, Nicole C.H.; Cheung, Kit; Lo, Ronnie M.N.; Tong, Estella P.S.; Wong, Bonnie W.Y.; Chan, Andrew L.T.; Mok, Vincent C.T.; Kwok, Timothy C.Y.; Mok, Kin Y.; Hardy, John; Zetterberg, Henrik; Fu, Amy K.Y.; Ip, Nancy Y.
Article

Underrepresented Populations in Parkinson's Genetics Research: Current Landscape and Future Directions

Movement Disorders, v. 37, (8), p. 1593-1604
Global Parkinson's Genetics Program (GP2); Schumacher-Schuh, Artur Francisco; Bieger, Andrei; Okunoye, Olaitan; Mok, Kin Ying; Lim, Shen Yang; Bardien, Soraya; Ahmad-Annuar, Azlina; Santos-Lobato, Bruno Lopes; Strelow, Matheus Zschornack; Salama, Mohamed; Rao, Shilpa C.; Zewde, Yared Zenebe; Dindayal, Saiesha; Azar, Jihan; Prashanth, Lingappa Kukkle; Rajan, Roopa; Noyce, Alastair J.; Okubadejo, Njideka; Rizig, Mie; Lesage, Suzanne; Mata, Ignacio Fernandez; IP, Nancy Yuk-Yu; ZHOU, Xiaopu
Article

2021 9

Blood transcriptome analysis for Alzheimer' disease in Hong Kong Chinese population

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, v. v. 17, article number e056643
ZHONG, Huan; ZHOU, Xiaopu; JIANG, Yuanbing; CHEN, Yu; LAI, N.C.H.; TONG, Pui Sze; LO, Ronnie M.N.; KWOK, Timonthy C.Y.; MOK, Vincent C.T.; IP, Fanny Chui Fun; MOK, Kin Ying Boniface; HARDY, John; FU, Kit Yu; IP, Nancy Yuk-yu
Article

Deep learning for polygenic score analysis for Alzheimer's disease risk prediction in the Chinese population

Alzheimer's & dementia : the journal of the Alzheimer's Association, v. v. 17, article number e056625
ZHOU, Xiaopu; CHEN, Yu; IP, Fanny Chui Fun; JIANG, Yuanbing; ZHONG, Huan; CHEN, Yuewen; CHEN, Jiahang; ZHANG, Yulin; MA, Shuangshuang; LAI, Nicole Chit Hang; LO, Ronnie M.N.; CHEUNG, Kit; TONG, Pui Sze; MOK, Kin Ying Boniface; HARDY, John; GUO, Qihao; MOK, Vincent C.T.; KWOK, Timothy C.Y.; CHEN, Lei; FU, Kit Yu; IP, Nancy Yuk-yu
Article

The East Asian Parkinson Disease Genomics Consortium

The Lancet Neurology, v. 20, (12), p. 982
East Asian Parkinson Disease Genomics Consortium; MOK, Kin Ying Boniface; Guo, Ji Feng; Tang, Bei Sha; Shang, Huifeng; Li, Chunyu; Nguyen, Huong Thi Thanh; Vu, Thi Thanh Huyen; Nguyen, Anh Tuan; Ip, Nancy Y.; Fu, Amy KY; IP, Fanny Chui Fun; Zhou, Xiaopu; CAO, Han; Hardy, John; Chan, Germaine Hiu Fai; Cheung, Nelson Yuk Fai; CHAN, Yin Cheung Phillip; Fong, Wing Chi; Ibrahim, Norlinah Mohamed; Azmin, Shahrul; Abdul Murad, Nor Azian; Sulaiman, Siti Aishah; Desa, Siti Hajar Md; Mohamed, Wael; Koks, Sulev; Pfaff, Abigail; Singleton, Lewis; Kim, Yun Joong; Chung, Seok Jong; Choi, Seong Min; CHEN, Yu; Chen, Yuewen; Ye, Tao; Wu, Yih Ru; Wu, Hsiu Chuan; Wu, Ruey Meei; Lin, Chin Hsein; Su, Yu An; Tsai, Mong Hsun; Shiraishi, Tomotaka; Murakami, Hidetomo; Sengoku, Renpei; Hattori, Nobutaka; Funayama, Manabu; Toda, Tatsushi; Satake, Wataru; Ogaki, Kotaro; Nishioka, Kenya; Singleton, Andrew
Article

A high-performance biomarker panel for Alzheimer's disease screening and staging identified by large-scale plasma proteomic profiling

Paper presented at The Journal of the Alzheimer’s Association
CHEN, Yu; LAI, Chit Hang; CHEUNG, Kit; LO, Ming Nok; TONG, Pui Sze; WONG, Wing Yan; CHAN, Andrew L.T.; MOK, Vincent C.T.; KWOK, Timonthy C.Y.; MOK, Kin Ying Boniface; HARDY, John; ZETTERBERG, Henrik; JIANG, Yuanbing; FU, Kit Yu; IP, Nancy Yuk-yu; ZHOU, Xiaopu; IP, Fanny Chui Fun; CHAN, Philip
Conference paper

A high-performance biomarker panel for Alzheimer's disease screening and staging identified by large-scale plasma proteomic profiling

Paper presented at Unknown Event
JIANG, Yuanbing; ZHOU, Xiaopu; IP, Fanny Chui Fun; CHAN, Philip; CHEN, Yu; LAI, Chit Hang; CHEUNG, Kit; LO, Ming Nok; TONG, Pui Sze; WONG, Wing Yan; CHAN, Andrew L.T.; MOK, Vincent C.T.; KWOK, Timothy C.Y.; MOK, Kin Ying Boniface; HARDY, John; ZETTERBERG, Henrik; FU, Kit Yu; IP, Nancy Yuk-Yu
Conference paper

East Asian Parkinson’s Disease Genomics Consortium – An introduction

Movement Disorders, v. 36, (S1), p. S317, article number 742
MOK, Kin Ying Boniface
Conference paper

Lack of diversity in Parkinson's disease genetic research: current landscape and future directions

Movement Disorders, v. 36, p. S321-S322, article number 752
GP2. Genetics Project (Porto Alegre, Brazil); Schumacher-Schuh, Artur F.; Bieger, Andrei; Strelow, Matheus Zschornack; Okunoye, Olaitan; MOK, Kin Ying Boniface; Ahmad-Annuar, Azlina; Bardien, Soraya; Lim, Shen Yang; Rao, S.; Zewde, Yared Z.; Dindayal, Saiesha; Azar, Jihan; Lesage, S.; Mata, Ignacio F.
Conference paper

The Global Parkinson's Genetics Program (GP2) - a year's progress

Movement Disorders, v. 36, p. S305, article number 713
Global Parkinson’s Genetics Program (GP2); Blauwendraat, Cornelis; Noyce, Alastair; Reimer, A.; Casey, Bradford; Riley, Ekemini; Fiske, Brian; Rizig, Mie; HARDY, John; Foroud, Tatiana M.; Murphy, Kaileigh; Wood, Nicholas W.; Wegel, Claire; Brice, Alexis; Fox, S.; Heutink, Peter; Krueger, R.; Williams, N. S.; Gasser, Thomas; MOK, Kin Ying Boniface; Sharma, M.; Marek, Kenneth; Sherer, Todd; Mata, N.; Nalls, Mike; Valente, E.; Morris, H.; Klein, C.; SINGLETON, Andrew
Conference paper

The Global Parkinson's Genetics Program (GP2) Underrepresented Populations Working Group

Movement Disorders, v. 36, p. S321-S321, article number 751
GP2. Genetics Project (Porto Alegre, Brazil); Schumacher-Schuh, Artur F.; Lim, Shen Yang; Okunoye, Olaitan; Bandres-Ciga, Sara; Heutink, Peter; Iwaki, Hirotaka; Kruger, R.A.; MOK, Kin Ying Boniface; Noyce, Alastair; Okubadejo, Njideka; Rizig, Mie; Rajan, Roopa; Prashanth, Lingappa Kukkle; Sharma, M.; Shulman, J.; Siddiqi, Bernadette; Bardien, Soraya; Mata, Ignacio F.
Conference paper

2020 4

Differential Associations of Apolipoprotein e ϵ4 Genotype with Attentional Abilities Across the Life Span of Individuals with Down Syndrome

JAMA Network Open, v. 3, (9), p. E2018221
D'Souza, Hana; Mason, Luke; Mok, Kin Y.; Startin, Carla M.; Hamburg, Sarah; Hithersay, Rosalyn; Baksh, R. Asaad; Hardy, John; Strydom, Andre; Thomas, Michael S.C.
Article

Fibrillation and molecular characteristics are coherent with clinical and pathological features of 4-repeat tauopathy caused by MAPT variant G273R

Neurobiology of Disease, v. 146, article number 105079
Sandberg, Alexander; Ling, Helen; Gearing, Marla; Dombroski, Beth; Cantwell, Laura; R'Bibo, Lea; Levey, Allan; Schellenberg, Gerard D.; Hardy, John; Wood, Nicholas; Fernius, Josefin; Nyström, Sofie; Svensson, Samuel; Thor, Stefan; Hammarström, Per; Revesz, Tamas; Mok, Kin Y.
Article

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

Acta Neuropathologica, v. 139, (4), p. 717-734
Ling, Helen; Gelpi, Ellen; Davey, Karen; Jaunmuktane, Zane; Mok, Kin Y.; Jabbari, Edwin; Simone, Roberto; R’Bibo, Lea; Brandner, Sebastian; Ellis, Matthew J.; Attems, Johannes; Mann, David; Halliday, Glenda M.; Al-Sarraj, S.; Hedreen, J.; Ironside, James W.; Kovacs, Gabor G.; Kovari, E.; Love, S.; Vonsattel, Jean Paul G.; Allinson, Kieren S.J.; Hansen, Daniela; Bradshaw, Teisha; Setó-Salvia, Núria; Wray, Selina; de Silva, Rohan; Morris, Huw R.; Warner, Thomas T.; Hardy, John; Holton, Janice L.; Revesz, Tamas
Article

Genetic and polygenic risk score analysis for Alzheimer's disease in the Chinese population

Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring, v. 12, (1), article number e12074
Zhou, Xiaopu; CHEN, Yu; IP, Fanny Chui Fun; LAI, Nicole C.H.; LI, Yolanda Y.T.; JIANG, Yuanbing; ZHONG, Huan; CHEN, Yuewen; ZHANG, Yulin; MA, Shuangshuang; LO, Ronnie Ming Nok; CHEUNG, Chi Kit; TONG, Estella Pui Sze; Ko, Ho; Shoai, Maryam; MOK, Kin Ying Boniface; Hardy, John; Mok, Vincent C.T.; Kwok, Timothy C.Y.; Fu, Amy K.Y.; Ip, Nancy Y.
Article

2019 8

Association of dementia with mortality among adults with down syndrome older than 35 years

JAMA Neurology, v. 76, (2), p. 152-160
Hithersay, Rosalyn; Startin, Carla M.; Hamburg, Sarah; Mok, Kin Y.; Hardy, John; Fisher, Elizabeth M.C.; Tybulewicz, Victor L.J.; Nizetic, Dean; Strydom, André
Article

C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy

Acta Neuropathologica, v. 138, (5), p. 795-811
Cali, Christopher P.; Patino, Maribel; Tai, Yee Kit; Ho, Wan Yun; McLean, Catriona A.; Morris, Christopher M.; Seeley, William W.; Miller, Bruce L.; Gaig, Carles; Vonsattel, Jean Paul G.; White, Charles L.; Roeber, Sigrun; Kretzschmar, Hans; Troncoso, Juan C.; Troakes, Claire; Gearing, Marla; Ghetti, Bernardino; Van Deerlin, Vivianna M.; Lee, Virginia M.Y.; Trojanowski, John Q.; Mok, Kin Y.; Ling, Helen; Dickson, Dennis W.; Schellenberg, Gerard D.; Ling, Shuo Chien; Lee, Edward B.
Article

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

Alzheimer's and Dementia, v. 15, (2), p. 245-257
LonDownS Consortium; Startin, Carla M.; Hamburg, Sarah; Hithersay, Rosalyn; Al-Janabi, Tamara; Mok, Kin Y.; Hardy, John; Strydom, Andre
Article

Non-coding variability at the APOE locus contributes to the Alzheimer’s risk

Nature Communications, v. 10, (1), article number 3310
Alzheimer’s Disease Neuroimaging Initiative; Zhou, Xiaopu; CHEN, Yu; MOK, Kin Ying Boniface; IP, Fanny Chui Fun; CHEN, Yuewen; MULLAPUDI, Nandita; Fu, Amy K.Y.; Ip, Nancy Y.
Article

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

Alzheimer's Research and Therapy, v. 11, (1), article number 26
LonDownS Consortium; Startin, Carla M.; Ashton, Nicholas J.; Hamburg, Sarah; Hithersay, Rosalyn; Wiseman, Frances K.; Mok, Kin Y.; Hardy, John; Lleó, Alberto; Lovestone, Simon; Parnetti, Lucilla; Zetterberg, Henrik; Hye, Abdul; Fisher, Elizabeth; Nizetic, Dean; Tybulewicz, Victor; Karmiloff-Smith, Annette; Al-Janabi, Tamara; Zhang, David; Strydom, André
Article

Intermediate C9orf72 Repeats in Corticobasal Degeneration

Journal of Neuropathology and Experimental Neurology, v. 78, (6), p. 520, article number 2
PSP Genetics Consortium; Cali, Christopher P.; Patino, Maribel; Phan, Jessica; Ghetti, Bernardino; Van Deerlin, Vivianna M.; Lee, Virginia; Trojanowski, John Q.; MOK, Kin Ying Boniface; Ling, Helen; Dickson, Dennis W.; Schellenberg, Gerard D.; Lee, Edward B.
Conference paper

Non-coding variability at the APOE locus contributes to the Alzheimer’s risk

Zhou, Xiaopu; Chen, Yu; Mok, Kin Ying Boniface; Kwok, T.C.Y.; Mok, V.C.T.; Guo, Q.; Ip, Fanny C.F.; Chen, Y.; Mullapudi, Nandita; Hardy, J.; Fu, Kit Yu; Li, Y.; Ip, Nancy Yuk-yu
Conference paper

Whole-genome sequencing for Alzheimer’s disease risk in the Chinese population

Paper presented at Gordon Research Conference on Cognitive Dysfunction in Brain Diseases
Chen, Y.; Guo, Q.; Hardy, J.; Li, Y.; Mok, V.C.T.; Mok, Kin Ying Boniface; Chen, Yu; Fu, Kit Yu; Ip, Nancy Yuk-yu; Ip, Fanny C.F.; Zhou, Xiaopu
Conference paper

2018 7

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

Annals of Clinical and Translational Neurology, v. 5, (6), p. 741-751
The LonDownS Consortium; Firth, Nicholas C.; Startin, Carla M.; Hithersay, Rosalyn; Hamburg, Sarah; Wijeratne, Peter A.; Mok, Kin Y.; Hardy, John; Alexander, Daniel C.; Strydom, André
Article

Analysis of shared heritability in common disorders of the brain

Science, v. 360, (6395), article number 8757
The Brainstorm Consortium; MOK, Kin Ying Boniface
Article

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

Proceedings of the National Academy of Sciences of the United States of America, v. 115, (8), p. 1697-1706
for the Alzheimer’s Disease Neuroimaging Initiative; Zhou, Xiaopu; CHEN, Yu; MOK, Kin Ying Boniface; Zhao, Qianhua; Chen, Keliang; CHEN, Yuewen; Hardy, John; Li, Yun; Fu, Amy K.Y.; Guo, Qihao; Ip, Nancy Y.
Article

Neurofilament light as a blood biomarker for neurodegeneration in down syndrome

Alzheimer's Research and Therapy, v. 10, (1), article number 39
The LonDownS Consortium; Strydom, Andre; Heslegrave, Amanda; Startin, Carla M.; Mok, Kin Y.; Hardy, John; Groet, Jurgen; Nizetic, Dean; Zetterberg, Henrik; Fisher, Elizabeth; Tybulewicz, Victor; Karmiloff-Smith, Annette; Hamburg, Sarah; Hithersay, Rosalyn
Article

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

Multiple Sclerosis and Related Disorders, v. 19, p. 168-170
Yaldizli, Özgür; Sethi, Varun; Pardini, Matteo; Tur, Carmen; Mok, Kin Y.; Muhlert, Nils; Liu, Zheng; Samson, Rebecca S.; Wheeler-Kingshott, Claudia A.M.; Yousry, Tarek A.; Houlden, Henry; Hardy, John; Miller, David H.; Chard, Declan T.
Article

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

Neurology, v. 90, (23), p. E2059-E2067
International Research Group on 22q11.2DS-associated Parkinson's Disease; Boot, Erik; Butcher, Nancy J.; Udow, Sean; Marras, Connie; Mok, Kin Y.; Kaneko, Satoshi; Barrett, Matthew J.; Prontera, Paolo; Berman, Brian D.; Masellis, Mario; Dufournet, Boris; Nguyen, Karine; Charles, Perrine; Mutez, Eugénie; Danaila, Teodor; Jacquette, Aurélia; Colin, Olivier; Drapier, Sophie; Borg, Michel; Fiksinski, Ania M.; Vergaelen, Elfi; Swillen, Ann; Vogels, Annick; Plate, Annika; Perandones, Claudia; Gasser, Thomas; Clerinx, Kristien; Bourdain, Frédéric; Mills, Kelly; Williams, Nigel M.; Wood, Nicholas W.; Booij, Jan; Lang, Anthony E.; Bassett, Anne S.
Article

Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype

Annals of Neurology, v. 84, (4), p. 485-496
Jabbari, Edwin; Woodside, John; Tan, Manuela M.X.; Shoai, Maryam; Pittman, Alan; Ferrari, Raffaele; Mok, Kin Y.; Zhang, David; Reynolds, Regina H.; de Silva, Rohan; Grimm, Max Joseph; Respondek, Gesine; Müller, Ulrich; Al-Sarraj, Safa; Gentleman, Stephen M.; Lees, Andrew J.; Warner, Thomas T.; Hardy, John; Revesz, Tamas; Höglinger, Günter U.; Holton, Janice L.; Ryten, Mina; Morris, Huw R.
Article

2017 1

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

Neurobiology of Aging, v. 50, p. 167.e11-167.e13
International Parkinson's Disease Consortium (IPDGC); Giri, Anamika; Mok, Kin Y.; Jansen, Iris; Sharma, Manu; Tesson, Christelle; Mangone, Graziella; Lesage, Suzanne; Bras, José M.; Shulman, Joshua M.; Sheerin, Una Marie; Díez-Fairen, Mónica; Pastor, Pau; Martí, María José; Ezquerra, Mario; Tolosa, Eduardo; Correia-Guedes, Leonor; Ferreira, Joaquim; Amin, Najaf; van Duijn, Cornelia M.; van Rooij, Jeroen; Uitterlinden, André G.; Kraaij, Robert; Nalls, Michael; Simón-Sánchez, Javier
Article

2016 6

A genome-wide association study in multiple system atrophy

Neurology, v. 87, (15), p. 1591-1598
On behalf of the European Multiple System Atrophy Study Group; the UK Multiple System Atrophy Study Group; Sailer, Anna; Scholz, Sonja W.; Nalls, Michael A.; Schulte, Claudia; Federoff, Monica; Price, T. Ryan; Lees, Andrew; Ross, Owen A.; Dickson, Dennis W.; Mok, Kin; Mencacci, Niccolo E.; Schottlaender, Lucia; Chelban, Viorica; Ling, Helen; O'Sullivan, Sean S.; Wood, Nicholas W.; Traynor, Bryan J.; Ferrucci, Luigi; Federoff, Howard J.; Mhyre, Timothy R.; Morris, Huw R.; Deuschl, Günther; Quinn, Niall; Widner, Hakan; Albanese, Alberto; Infante, Jon; Bhatia, Kailash P.; Poewe, Werner; Oertel, Wolfgang; Höglinger, Günter U.; Wüllner, Ullrich; Goldwurm, Stefano; Pellecchia, Maria Teresa; Ferreira, Joaquim; Tolosa, Eduardo; Bloem, Bastiaan R.; Rascol, Olivier; Meissner, Wassilios G.; Hardy, John A.; Revesz, Tamas; Holton, Janice L.; Gasser, Thomas; Wenning, Gregor K.; Singleton, Andrew B.; Houlden, Henry
Article

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

Human Molecular Genetics, v. 25, (24), p. 5483-5489
for International Parkinson's Disease Genomics Consortium; Lubbe, Steven J.; Escott-Price, Valentina; Gibbs, J. Raphael; Nalls, Mike A.; Bras, Jose; Price, T. Ryan; Nicolas, Aude; Jansen, Iris E.; Mok, Kin Y.; Pittman, Alan M.; Tomkins, James E.; Lewis, Patrick A.; Noyce, Alastair J.; Lesage, Suzanne; Sharma, Manu; Schiff, Elena R.; Levine, Adam P.; Brice, Alexis; Gasser, Thomas; Hardy, John; Heutink, Peter; Wood, Nicholas W.; Singleton, Andrew B.; Williams, Nigel M.; Morris, Huw R.
Article

Astrogliopathy predominates the earliest stage of corticobasal degeneration pathology

Brain, v. 139, (12), p. 3237-3252
Ling, Helen; Kovacs, Gabor G.; Vonsattel, Jean Paul G.; Davey, Karen; Mok, Kin Y.; Hardy, John; Morris, Huw R.; Warner, Thomas T.; Holton, Janice L.; Revesz, Tamas
Article

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

The Lancet Neurology, v. 15, (6), p. 585-596
International Parkinson's Disease Genomics Consortium (IPDGC); Mok, Kin Y.; Sheerin, Una; Simón-Sánchez, Javier; Salaka, Afnan; Chester, Lucy; Escott-Price, Valentina; Mantripragada, Kiran; Doherty, Karen M.; Noyce, Alastair J.; Mencacci, Niccolo E.; Lubbe, Steven J.; Williams-Gray, Caroline H.; Barker, Roger A.; van Dijk, Karin D.; Berendse, Henk W.; Heutink, Peter; Corvol, Jean Christophe; Cormier, Florence; Lesage, Suzanne; Brice, Alexis; Brockmann, Kathrin; Schulte, Claudia; Gasser, Thomas; Foltynie, Thomas; Limousin, Patricia; Morrison, Karen E.; Clarke, Carl E.; Sawcer, Stephen; Warner, Tom T.; Lees, Andrew J.; Morris, Huw R.; Nalls, Mike A.; Singleton, Andrew B.; Hardy, John; Abramov, Andrey Y.; Plagnol, Vincent; Williams, Nigel M.; Wood, Nicholas W.
Article

Parkinson's disease without nigral degeneration: a pathological correlate of scans without evidence of dopaminergic deficit (SWEDD)?

Journal of Neurology, Neurosurgery and Psychiatry, v. 87, (6), p. 633-641
Ling, Helen; Kearney, Seamus; Yip, Helen Lai Kuen; Silveira-Moriyama, Laura; Revesz, Tamas; Holton, Janice L.; Strand, Catherine; Davey, Karen; Mok, Kin Ying; Polke, James M.; Lees, Andrew J.
Article

A pilot study of whole exome sequencing in progressive supranuclear palsy

Movement Disorders, v. 31, p. S200-S201, article number 609
International Parkinson's Disease Genomics Consortium (IPDGC); MOK, Kin Ying Boniface; Tucci, Arianna; de Silva, Rohan; Morris, Huw R.; Singleton, Andrew; Houlden, Henry; Hardy, John
Conference paper

2015 1

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

Neurobiology of Aging, v. 36, (1), p. 546.e1-546.e7
Fratta, Pietro; Polke, James M.; Newcombe, Jia; Mizielinska, Sarah; Lashley, Tammaryn; Poulter, Mark; Beck, Jon; Preza, Elisavet; Devoy, Anny; Sidle, Katie; Howard, Robin; Malaspina, Andrea; Orrell, Richard W.; Clarke, Jan; Lu, Ching Hua; Mok, Kin; Collins, Toby; Shoaii, Maryam; Nanji, Tina; Wray, Selina; Adamson, Gary; Pittman, Alan; Renton, Alan E.; Traynor, Bryan J.; Sweeney, Mary G.; Revesz, Tamas; Houlden, Henry; Mead, Simon; Isaacs, Adrian M.; Fisher, Elizabeth M.C.
Article

2014 4

A familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma

Neurobiology of Aging, v. 35, (2), p. 444.e11-444.e14
Ferrari, Raffaele; Kero, Mia; Mok, Kin; Paetau, Anders; Tienari, Pentti J.; Tynninen, Olli; Hardy, John; Momeni, Parastoo; Verkkoniemi-Ahola, Auli; Myllykangas, Liisa
Article

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

Movement Disorders, v. 29, (2), p. 245-251
Mok, Kin Y.; Schneider, Susanne A.; Trabzuni, Daniah; Stamelou, Maria; Edwards, Mark; Kasperaviciute, Dalia; Pickering-Brown, Stuart; Silverdale, Monty; Hardy, John; Bhatia, Kailash P.
Article

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

Brain, v. 137, (9), p. 2480-2492
International Parkinson’s Disease Genomics Consortium (IPDGC); UCL-exomes consortium; Mencacci, Niccolò E.; Isaias, Ioannis U.; Reich, Martin M.; Ganos, Christos; Plagnol, Vincent; Polke, James M.; Bras, Jose; Hersheson, Joshua; Stamelou, Maria; Pittman, Alan M.; Noyce, Alastair J.; Mok, Kin Y.; Opladen, Thomas; Kunstmann, Erdmute; Hodecker, Sybille; Münchau, Alexander; Volkmann, Jens; Samnick, Samuel; Sidle, Katie; Nanji, Tina; Sweeney, Mary G.; Houlden, Henry; Batla, Amit; Zecchinelli, Anna L.; Pezzoli, Gianni; Marotta, Giorgio; Lees, Andrew; Alegria, Paulo; Krack, Paul; Cormier-Dequaire, Florence; Lesage, Suzanne; Brice, Alexis; Heutink, Peter; Gasser, Thomas; Lubbe, Steven J.; Morris, Huw R.; Taba, Pille; Koks, Sulev; Majounie, Elisa; Gibbs, J. Raphael; Singleton, Andrew; Hardy, John; Klebe, Stephan; Bhatia, Kailash P.; Wood, Nicholas W.
Article

Polymorphisms in BACE2 may affect the age of onset alzheimer's dementia in down syndrome

Neurobiology of Aging, v. 35, (6), p. 1513.e1-1513.e5
Mok, Kin Y.; Jones, Emma L.; Hanney, Marisa; Harold, Denise; Sims, Rebecca; Williams, Julie; Ballard, Clive; Hardy, John
Article

2013 3

Evidence that PICALM affects age at onset of alzheimer's dementia in down syndrome

Neurobiology of Aging, v. 34, (10), p. 2441.e1-2441.e5
Jones, Emma L.; Mok, Kin; Hanney, Marisa; Harold, Denise; Sims, Rebecca; Williams, Julie; Ballard, Clive
Article

Homozygosity analysis in amyotrophic lateral sclerosis

European Journal of Human Genetics, v. 21, (12), p. 1429-1435
Mok, Kin; Laaksovirta, Hannu; Tienari, Pentti J.; Peuralinna, Terhi; Myllykangas, Liisa; Chiò, Adriano; Traynor, Bryan J.; Nalls, Michael A.; Gurunlian, Nicole; Shatunov, Aleksey; Restagno, Gabriella; Mora, Gabriele; Nigel Leigh, P.; Shaw, Chris E.; Morrison, Karen E.; Shaw, Pamela J.; Al-Chalabi, Ammar; Hardy, John; Orrell, Richard W.
Article

Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause brown-vialetto-van laere syndrome

Journal of the Neurological Sciences, v. 334, (1-2), p. 119-122
Nalini, Atchayaram; Pandraud, Amelie; Mok, Kin; Houlden, Henry
Article

2012 8

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

Bioinformatics, v. 28, (21), p. 2747-2754
Plagnol, Vincent; Curtis, James; Epstein, Michael; Mok, Kin Y.; Stebbings, Emma; Grigoriadou, Sofia; Wood, Nicholas W.; Hambleton, Sophie; Burns, Siobhan O.; Thrasher, Adrian J.; Kumararatne, Dinakantha; Doffinger, Rainer; Nejentsev, Sergey
Article

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

Brain, v. 135, (3), p. 751-764
Cooper-Knock, Johnathan; Hewitt, Christopher; Highley, J. Robin; Brockington, Alice; Milano, Antonio; Man, Somai; Martindale, Joanne; Hartley, Judith; Walsh, Theresa; Gelsthorpe, Catherine; Baxter, Lynne; Forster, Gillian; Fox, Melanie; Bury, Joanna; Mok, Kin; McDermott, Christopher J.; Traynor, Bryan J.; Kirby, Janine; Wharton, Stephen B.; Ince, Paul G.; Hardy, John; Shaw, Pamela J.
Article

Familial lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion

Neurobiology of Aging, v. 33, (8), p. 1850.e13-1850.e16
Englund, Elisabet; Gustafson, Lars; Passant, Ulla; Majounie, Elisa; Renton, Alan E.; Traynor, Bryan J.; Rohrer, Jonathan D.; Mok, Kin; Hardy, John
Article

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

Brain, v. 135, (3), p. 736-750
Mahoney, Colin J.; Beck, Jon; Rohrer, Jonathan D.; Lashley, Tammaryn; Mok, Kin; Shakespeare, Tim; Yeatman, Tom; Warrington, Elizabeth K.; Schott, Jonathan M.; Fox, Nick C.; Rossor, Martin N.; Hardy, John; Collinge, John; Revesz, Tamas; Mead, Simon; Warren, Jason D.
Article

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

Neurobiology of Aging, v. 33, (8), p. 1851.e1-1851.e5
Mok, Kin Y.; Koutsis, Georgios; Schottlaender, Lucia V.; Polke, James; Panas, Marios; Houlden, Henry
Article

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

Journal of Allergy and Clinical Immunology, v. 130, (6), p. 1428-1432
Burns, Siobhan O.; Zenner, Helen L.; Plagnol, Vincent; Curtis, James; Mok, Kin; Eisenhut, Michael; Kumararatne, Dinakantha; Doffinger, Rainer; Thrasher, Adrian J.; Nejentsev, Sergey
Article

Screening for C9ORF72 repeat expansion in FTLD

Neurobiology of Aging, v. 33, (8), p. 1850.e1-1850.e11
Ferrari, Raffaele; Mok, Kin; Moreno, Jorge H.; Cosentino, Stephanie; Goldman, Jill; Pietrini, Pietro; Mayeux, Richard; Tierney, Michael C.; Kapogiannis, Dimitrios; Jicha, Gregory A.; Murrell, Jill R.; Ghetti, Bernardino; Wassermann, Eric M.; Grafman, Jordan; Hardy, John; Huey, Edward D.; Momeni, Parastoo
Article

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

Neurobiology of Aging, v. 33, (1), p. 209.e3-209.e8
Mok, Kin; Traynor, Bryan J.; Schymick, Jennifer; Tienari, Pentti J.; Laaksovirta, Hannu; Peuralinna, Terhi; Myllykangas, Liisa; Chiò, Adriano; Shatunov, Aleksey; Boeve, Bradley F.; Boxer, Adam L.; DeJesus-Hernandez, Mariely; Mackenzie, Ian R.; Waite, Adrian; Williams, Nigel; Morris, Huw R.; Simón-Sánchez, Javier; van Swieten, John C.; Heutink, Peter; Restagno, Gabriella; Mora, Gabriele; Morrison, Karen E.; Shaw, Pamela J.; Rollinson, Pamela Sara; Al-Chalabi, Ammar; Rademakers, Rosa; Pickering-Brown, Stuart; Orrell, Richard W.; Nalls, Michael A.; Hardy, John
Article

Article 3

An ABCA1 missense variant decreases cholesterol efflux and confers Alzheimer's disease risk in the Chinese population

Journal of Alzheimer's Disease, v. 106, (3), p. 996-1009
Liu, Sze Kei; Cao, Han; Yang, Xin; Zhou, Xiaopu; Chen, Yu; Fu, Wing Yu; Chan, San Yuen; Ip, Fanny C.F.; Mok, Kin Y.; Mok, Vincent C.T.; Kwok, Timothy C.Y.; Hardy, John; Fu, Amy K.Y.; Ip, Nancy Y.

The TREM2 H157Y variant is associated with more severe neurodegeneration in Alzheimer's disease and altered immune-related processes

Alzheimer's and Dementia, v. 21, (9), article number e70586
Tsui, Jackie Shuk Man; Au, Danise M.; Uhm, Hyebin; Wong, Wan wa; Lo, Ronnie Ming Nok; Jiang, Yuanbing; Ip, Fanny C.F.; Mok, Kin Y.; Wong, Hiu Yi; Kwok, Timothy C.Y.; FU, Kit Yu; Ip, Nancy Y.

Transethnic analysis identifies SORL1 variants and haplotypes protective against Alzheimer's disease

Alzheimer's and Dementia, v. 21, (1), article number e14214
Alzheimer's Disease Neuroimaging Initiative; Zhou, Xiaopu; CAO, Han; JIANG, Yuanbing; CHEN, Yuewen; ZHONG, Huan; FU, Wing Yu; Lo, Ronnie M.N; WONG, Bonnie W.Y.; CHENG, Elaine Y.L.; MOK, Kin Ying Boniface; Kwok, Timothy C.Y.; Mok, Vincent C.T.; IP, Fanny Chui Fun; Miyashita, Akinori; Hara, Norikazu; Ikeuchi, Takeshi; Hardy, John; CHEN, Yu; FU, Amy K.Y.; Ip, Nancy Y.

Article 5

A blood-based multi-pathway biomarker assay for early detection and staging of Alzheimer's disease across ethnic groups

Alzheimer's and Dementia, v. 20, (3), p. 2000-2015
JIANG, Yuanbing; UHM, Hyebin; IP, Fanny Chui Fun; Ouyang, Li; LO, Ming Nok; CHENG, Yee Ling; Cao, Xiaoyun; Tan, Clara M.C.; Law, Brian C.H.; Ortiz-Romero, Paula; Puig-Pijoan, Albert; Fernández-Lebrero, Aida; Contador, José; MOK, Kin Ying Boniface; Hardy, John; Kwok, Timothy C.Y.; Mok, Vincent C.T.; Suárez-Calvet, Marc; Zetterberg, Henrik; Fu, Amy K.Y.; Ip, Nancy Y.

Editorial: Genetics and biomarkers of Alzheimer's disease in Asian populations

Frontiers in Neuroscience, v. 18, (1), article number 1357783
Zhou, Xiaopu; MOK, Kin Ying Boniface; Fu, Amy K.Y.

Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes

Nature Communications, v. 15, (1), article number 7880
PSP Genetics Study Group; Farrell, Kurt; Humphrey, Jack; Chang, Timothy; Zhao, Yi; Leung, Yuk Yee; Kuksa, Pavel P.; Patil, Vishakha; Lee, Wan Ping; Kuzma, Amanda B.; Valladares, Otto; Cantwell, Laura B.; Wang, Hui; Ravi, Ashvin; De Sanctis, Claudia; Han, Natalia; Christie, Thomas D.; Afzal, Robina; Kandoi, Shrishtee; Whitney, Kristen; Krassner, Margaret M.; Ressler, Hadley; Kim, Soong Ho; Dangoor, Diana; Iida, Megan A.; Casella, Alicia; Walker, Ruth H.; Nirenberg, Melissa J.; Renton, Alan E.; Babrowicz, Bergan; Coppola, Giovanni; Raj, Towfique; Höglinger, Günter U.; Müller, Ulrich; Golbe, Lawrence I.; Morris, Huw R.; Hardy, John; Revesz, Tamas; Warner, Tom T.; Jaunmuktane, Zane; Mok, Kin Y.; Rademakers, Rosa; Dickson, Dennis W.; Ross, Owen A.; Wang, Li San; Goate, Alison; Schellenberg, Gerard; Geschwind, Daniel H.; Crary, John F.; Naj, Adam C.

MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study

The Lancet Neurology, v. 23, (5), p. 487-499
Pick's disease International Consortium; Mok, Kin

Using blood transcriptome analysis for Alzheimer's disease diagnosis and patient stratification

Alzheimer's and Dementia, v. 20, (4), p. 2469-2484
ZHONG, Huan; Zhou, Xiaopu; UHM, Hyebin; JIANG, Yuanbing; CAO, Han; CHEN, Yu; MAK, Tze Wing Tiffany; LO, Ming Nok; WONG, Wing Yan; CHENG, Yee Ling; MOK, Kin Ying Boniface; Chan, Andrew Lung Tat; Kwok, Timothy C.Y.; Mok, Vincent C.T.; IP, Fanny Chui Fun; Hardy, John; Fu, Amy K.Y.; Ip, Nancy Y.

Article 2

Deep learning-based polygenic risk analysis for Alzheimer’s disease prediction

Communications Medicine, v. 3, (1), article number 49
Alzheimer's Disease Neuroimaging Initiative; Zhou, Xiaopu; Chen, Yu; Ip, Fanny C.F.; Jiang, Yuanbing; Cao, Han; Lv, Ge; Zhong, Huan; Chen, Jiahang; Ye, Tao; Chen, Yuewen; Zhang, Yulin; Ma, Shuangshuang; Lo, Ronnie M.N.; Tong, Estella P.S.; Mok, Kin Y.; Chen, Lei; Fu, Amy K.Y.; Ip, Nancy Y.

Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2)

npj Parkinson's Disease, v. 9, (1), article number 100
the Global Parkinson’s Genetic Program (GP2); Lange, Lara M.; Avenali, Micol; Ellis, Melina; Illarionova, Anastasia; Keller Sarmiento, Ignacio J.; Tan, Ai Huey; Madoev, Harutyun; Galandra, Caterina; Junker, Johanna; Roopnarain, Karisha; Solle, Justin; Wegel, Claire; Fang, Zih Hua; Heutink, Peter; Kumar, Kishore R.; Lim, Shen Yang; Valente, Enza Maria; Nalls, Mike; Blauwendraat, Cornelis; Singleton, Andrew; Mencacci, Niccolo; Lohmann, Katja; Klein, Christine; IP, Nancy Yuk-Yu; CHAN, Yin Cheung Phillip; ZHOU, Xiaopu; MOK, Kin Ying Boniface

Article 4

An IL1RL1 genetic variant lowers soluble ST2 levels and the risk effects of APOE-ε4 in female patients with Alzheimer’s disease

Nature Aging, v. 2, (7), p. 616-634
Alzheimer’s Disease Neuroimaging Initiative; JIANG, Yuanbing; Zhou, Xiaopu; Wong, Hiu Yi; OUYANG, Li; IP, Fanny Chui Fun; CHAU, Vicky M.N.; LAU, Shun Fat; WU, Wei; WONG, Daniel Y.K.; SEO, Heukjin; FU, Wing Yu; LAI, Nicole C.H.; CHEN, Yuewen; CHEN, Yu; TONG, Estella P.S.; MOK, Kin Ying Boniface; Fu, Amy K.Y.; Ip, Nancy Y.

Demographics and Medication Use of Patients with Late-Onset Alzheimer's Disease in Hong Kong

Journal of Alzheimer's Disease, v. 87, (3), p. 1205-1213
Wong, Hiu Yi; ZHONG, Huan; ZHONG, Mingqian; Zhou, Xiaopu; CHAN, Yin Cheung Phillip; Kwok, Timothy C.Y.; MOK, Kin Ying Boniface; Hardy, John; IP, Fanny Chui Fun; Fu, Amy K.Y.; Ip, Nancy Y.

Large-scale plasma proteomic profiling identifies a high-performance biomarker panel for Alzheimer's disease screening and staging

Alzheimer's and Dementia, v. 18, (1), p. 88-102
Jiang, Yuanbing; Zhou, Xiaopu; Ip, Fanny C.; Chan, Philip; Chen, Yu; Lai, Nicole C.H.; Cheung, Kit; Lo, Ronnie M.N.; Tong, Estella P.S.; Wong, Bonnie W.Y.; Chan, Andrew L.T.; Mok, Vincent C.T.; Kwok, Timothy C.Y.; Mok, Kin Y.; Hardy, John; Zetterberg, Henrik; Fu, Amy K.Y.; Ip, Nancy Y.

Underrepresented Populations in Parkinson's Genetics Research: Current Landscape and Future Directions

Movement Disorders, v. 37, (8), p. 1593-1604
Global Parkinson's Genetics Program (GP2); Schumacher-Schuh, Artur Francisco; Bieger, Andrei; Okunoye, Olaitan; Mok, Kin Ying; Lim, Shen Yang; Bardien, Soraya; Ahmad-Annuar, Azlina; Santos-Lobato, Bruno Lopes; Strelow, Matheus Zschornack; Salama, Mohamed; Rao, Shilpa C.; Zewde, Yared Zenebe; Dindayal, Saiesha; Azar, Jihan; Prashanth, Lingappa Kukkle; Rajan, Roopa; Noyce, Alastair J.; Okubadejo, Njideka; Rizig, Mie; Lesage, Suzanne; Mata, Ignacio Fernandez; IP, Nancy Yuk-Yu; ZHOU, Xiaopu

Article 3

Blood transcriptome analysis for Alzheimer' disease in Hong Kong Chinese population

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, v. v. 17, article number e056643
ZHONG, Huan; ZHOU, Xiaopu; JIANG, Yuanbing; CHEN, Yu; LAI, N.C.H.; TONG, Pui Sze; LO, Ronnie M.N.; KWOK, Timonthy C.Y.; MOK, Vincent C.T.; IP, Fanny Chui Fun; MOK, Kin Ying Boniface; HARDY, John; FU, Kit Yu; IP, Nancy Yuk-yu

Deep learning for polygenic score analysis for Alzheimer's disease risk prediction in the Chinese population

Alzheimer's & dementia : the journal of the Alzheimer's Association, v. v. 17, article number e056625
ZHOU, Xiaopu; CHEN, Yu; IP, Fanny Chui Fun; JIANG, Yuanbing; ZHONG, Huan; CHEN, Yuewen; CHEN, Jiahang; ZHANG, Yulin; MA, Shuangshuang; LAI, Nicole Chit Hang; LO, Ronnie M.N.; CHEUNG, Kit; TONG, Pui Sze; MOK, Kin Ying Boniface; HARDY, John; GUO, Qihao; MOK, Vincent C.T.; KWOK, Timothy C.Y.; CHEN, Lei; FU, Kit Yu; IP, Nancy Yuk-yu

The East Asian Parkinson Disease Genomics Consortium

The Lancet Neurology, v. 20, (12), p. 982
East Asian Parkinson Disease Genomics Consortium; MOK, Kin Ying Boniface; Guo, Ji Feng; Tang, Bei Sha; Shang, Huifeng; Li, Chunyu; Nguyen, Huong Thi Thanh; Vu, Thi Thanh Huyen; Nguyen, Anh Tuan; Ip, Nancy Y.; Fu, Amy KY; IP, Fanny Chui Fun; Zhou, Xiaopu; CAO, Han; Hardy, John; Chan, Germaine Hiu Fai; Cheung, Nelson Yuk Fai; CHAN, Yin Cheung Phillip; Fong, Wing Chi; Ibrahim, Norlinah Mohamed; Azmin, Shahrul; Abdul Murad, Nor Azian; Sulaiman, Siti Aishah; Desa, Siti Hajar Md; Mohamed, Wael; Koks, Sulev; Pfaff, Abigail; Singleton, Lewis; Kim, Yun Joong; Chung, Seok Jong; Choi, Seong Min; CHEN, Yu; Chen, Yuewen; Ye, Tao; Wu, Yih Ru; Wu, Hsiu Chuan; Wu, Ruey Meei; Lin, Chin Hsein; Su, Yu An; Tsai, Mong Hsun; Shiraishi, Tomotaka; Murakami, Hidetomo; Sengoku, Renpei; Hattori, Nobutaka; Funayama, Manabu; Toda, Tatsushi; Satake, Wataru; Ogaki, Kotaro; Nishioka, Kenya; Singleton, Andrew

Conference paper 6

A high-performance biomarker panel for Alzheimer's disease screening and staging identified by large-scale plasma proteomic profiling

Paper presented at The Journal of the Alzheimer’s Association
CHEN, Yu; LAI, Chit Hang; CHEUNG, Kit; LO, Ming Nok; TONG, Pui Sze; WONG, Wing Yan; CHAN, Andrew L.T.; MOK, Vincent C.T.; KWOK, Timonthy C.Y.; MOK, Kin Ying Boniface; HARDY, John; ZETTERBERG, Henrik; JIANG, Yuanbing; FU, Kit Yu; IP, Nancy Yuk-yu; ZHOU, Xiaopu; IP, Fanny Chui Fun; CHAN, Philip

A high-performance biomarker panel for Alzheimer's disease screening and staging identified by large-scale plasma proteomic profiling

Paper presented at Unknown Event
JIANG, Yuanbing; ZHOU, Xiaopu; IP, Fanny Chui Fun; CHAN, Philip; CHEN, Yu; LAI, Chit Hang; CHEUNG, Kit; LO, Ming Nok; TONG, Pui Sze; WONG, Wing Yan; CHAN, Andrew L.T.; MOK, Vincent C.T.; KWOK, Timothy C.Y.; MOK, Kin Ying Boniface; HARDY, John; ZETTERBERG, Henrik; FU, Kit Yu; IP, Nancy Yuk-Yu

East Asian Parkinson’s Disease Genomics Consortium – An introduction

Movement Disorders, v. 36, (S1), p. S317, article number 742
MOK, Kin Ying Boniface

Lack of diversity in Parkinson's disease genetic research: current landscape and future directions

Movement Disorders, v. 36, p. S321-S322, article number 752
GP2. Genetics Project (Porto Alegre, Brazil); Schumacher-Schuh, Artur F.; Bieger, Andrei; Strelow, Matheus Zschornack; Okunoye, Olaitan; MOK, Kin Ying Boniface; Ahmad-Annuar, Azlina; Bardien, Soraya; Lim, Shen Yang; Rao, S.; Zewde, Yared Z.; Dindayal, Saiesha; Azar, Jihan; Lesage, S.; Mata, Ignacio F.

The Global Parkinson's Genetics Program (GP2) - a year's progress

Movement Disorders, v. 36, p. S305, article number 713
Global Parkinson’s Genetics Program (GP2); Blauwendraat, Cornelis; Noyce, Alastair; Reimer, A.; Casey, Bradford; Riley, Ekemini; Fiske, Brian; Rizig, Mie; HARDY, John; Foroud, Tatiana M.; Murphy, Kaileigh; Wood, Nicholas W.; Wegel, Claire; Brice, Alexis; Fox, S.; Heutink, Peter; Krueger, R.; Williams, N. S.; Gasser, Thomas; MOK, Kin Ying Boniface; Sharma, M.; Marek, Kenneth; Sherer, Todd; Mata, N.; Nalls, Mike; Valente, E.; Morris, H.; Klein, C.; SINGLETON, Andrew

The Global Parkinson's Genetics Program (GP2) Underrepresented Populations Working Group

Movement Disorders, v. 36, p. S321-S321, article number 751
GP2. Genetics Project (Porto Alegre, Brazil); Schumacher-Schuh, Artur F.; Lim, Shen Yang; Okunoye, Olaitan; Bandres-Ciga, Sara; Heutink, Peter; Iwaki, Hirotaka; Kruger, R.A.; MOK, Kin Ying Boniface; Noyce, Alastair; Okubadejo, Njideka; Rizig, Mie; Rajan, Roopa; Prashanth, Lingappa Kukkle; Sharma, M.; Shulman, J.; Siddiqi, Bernadette; Bardien, Soraya; Mata, Ignacio F.

Article 4

Differential Associations of Apolipoprotein e ϵ4 Genotype with Attentional Abilities Across the Life Span of Individuals with Down Syndrome

JAMA Network Open, v. 3, (9), p. E2018221
D'Souza, Hana; Mason, Luke; Mok, Kin Y.; Startin, Carla M.; Hamburg, Sarah; Hithersay, Rosalyn; Baksh, R. Asaad; Hardy, John; Strydom, Andre; Thomas, Michael S.C.

Fibrillation and molecular characteristics are coherent with clinical and pathological features of 4-repeat tauopathy caused by MAPT variant G273R

Neurobiology of Disease, v. 146, article number 105079
Sandberg, Alexander; Ling, Helen; Gearing, Marla; Dombroski, Beth; Cantwell, Laura; R'Bibo, Lea; Levey, Allan; Schellenberg, Gerard D.; Hardy, John; Wood, Nicholas; Fernius, Josefin; Nyström, Sofie; Svensson, Samuel; Thor, Stefan; Hammarström, Per; Revesz, Tamas; Mok, Kin Y.

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

Acta Neuropathologica, v. 139, (4), p. 717-734
Ling, Helen; Gelpi, Ellen; Davey, Karen; Jaunmuktane, Zane; Mok, Kin Y.; Jabbari, Edwin; Simone, Roberto; R’Bibo, Lea; Brandner, Sebastian; Ellis, Matthew J.; Attems, Johannes; Mann, David; Halliday, Glenda M.; Al-Sarraj, S.; Hedreen, J.; Ironside, James W.; Kovacs, Gabor G.; Kovari, E.; Love, S.; Vonsattel, Jean Paul G.; Allinson, Kieren S.J.; Hansen, Daniela; Bradshaw, Teisha; Setó-Salvia, Núria; Wray, Selina; de Silva, Rohan; Morris, Huw R.; Warner, Thomas T.; Hardy, John; Holton, Janice L.; Revesz, Tamas

Genetic and polygenic risk score analysis for Alzheimer's disease in the Chinese population

Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring, v. 12, (1), article number e12074
Zhou, Xiaopu; CHEN, Yu; IP, Fanny Chui Fun; LAI, Nicole C.H.; LI, Yolanda Y.T.; JIANG, Yuanbing; ZHONG, Huan; CHEN, Yuewen; ZHANG, Yulin; MA, Shuangshuang; LO, Ronnie Ming Nok; CHEUNG, Chi Kit; TONG, Estella Pui Sze; Ko, Ho; Shoai, Maryam; MOK, Kin Ying Boniface; Hardy, John; Mok, Vincent C.T.; Kwok, Timothy C.Y.; Fu, Amy K.Y.; Ip, Nancy Y.

Article 5

Association of dementia with mortality among adults with down syndrome older than 35 years

JAMA Neurology, v. 76, (2), p. 152-160
Hithersay, Rosalyn; Startin, Carla M.; Hamburg, Sarah; Mok, Kin Y.; Hardy, John; Fisher, Elizabeth M.C.; Tybulewicz, Victor L.J.; Nizetic, Dean; Strydom, André

C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy

Acta Neuropathologica, v. 138, (5), p. 795-811
Cali, Christopher P.; Patino, Maribel; Tai, Yee Kit; Ho, Wan Yun; McLean, Catriona A.; Morris, Christopher M.; Seeley, William W.; Miller, Bruce L.; Gaig, Carles; Vonsattel, Jean Paul G.; White, Charles L.; Roeber, Sigrun; Kretzschmar, Hans; Troncoso, Juan C.; Troakes, Claire; Gearing, Marla; Ghetti, Bernardino; Van Deerlin, Vivianna M.; Lee, Virginia M.Y.; Trojanowski, John Q.; Mok, Kin Y.; Ling, Helen; Dickson, Dennis W.; Schellenberg, Gerard D.; Ling, Shuo Chien; Lee, Edward B.

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

Alzheimer's and Dementia, v. 15, (2), p. 245-257
LonDownS Consortium; Startin, Carla M.; Hamburg, Sarah; Hithersay, Rosalyn; Al-Janabi, Tamara; Mok, Kin Y.; Hardy, John; Strydom, Andre

Non-coding variability at the APOE locus contributes to the Alzheimer’s risk

Nature Communications, v. 10, (1), article number 3310
Alzheimer’s Disease Neuroimaging Initiative; Zhou, Xiaopu; CHEN, Yu; MOK, Kin Ying Boniface; IP, Fanny Chui Fun; CHEN, Yuewen; MULLAPUDI, Nandita; Fu, Amy K.Y.; Ip, Nancy Y.

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

Alzheimer's Research and Therapy, v. 11, (1), article number 26
LonDownS Consortium; Startin, Carla M.; Ashton, Nicholas J.; Hamburg, Sarah; Hithersay, Rosalyn; Wiseman, Frances K.; Mok, Kin Y.; Hardy, John; Lleó, Alberto; Lovestone, Simon; Parnetti, Lucilla; Zetterberg, Henrik; Hye, Abdul; Fisher, Elizabeth; Nizetic, Dean; Tybulewicz, Victor; Karmiloff-Smith, Annette; Al-Janabi, Tamara; Zhang, David; Strydom, André

Conference paper 3

Intermediate C9orf72 Repeats in Corticobasal Degeneration

Journal of Neuropathology and Experimental Neurology, v. 78, (6), p. 520, article number 2
PSP Genetics Consortium; Cali, Christopher P.; Patino, Maribel; Phan, Jessica; Ghetti, Bernardino; Van Deerlin, Vivianna M.; Lee, Virginia; Trojanowski, John Q.; MOK, Kin Ying Boniface; Ling, Helen; Dickson, Dennis W.; Schellenberg, Gerard D.; Lee, Edward B.

Non-coding variability at the APOE locus contributes to the Alzheimer’s risk

Zhou, Xiaopu; Chen, Yu; Mok, Kin Ying Boniface; Kwok, T.C.Y.; Mok, V.C.T.; Guo, Q.; Ip, Fanny C.F.; Chen, Y.; Mullapudi, Nandita; Hardy, J.; Fu, Kit Yu; Li, Y.; Ip, Nancy Yuk-yu

Whole-genome sequencing for Alzheimer’s disease risk in the Chinese population

Paper presented at Gordon Research Conference on Cognitive Dysfunction in Brain Diseases
Chen, Y.; Guo, Q.; Hardy, J.; Li, Y.; Mok, V.C.T.; Mok, Kin Ying Boniface; Chen, Yu; Fu, Kit Yu; Ip, Nancy Yuk-yu; Ip, Fanny C.F.; Zhou, Xiaopu

Article 7

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

Annals of Clinical and Translational Neurology, v. 5, (6), p. 741-751
The LonDownS Consortium; Firth, Nicholas C.; Startin, Carla M.; Hithersay, Rosalyn; Hamburg, Sarah; Wijeratne, Peter A.; Mok, Kin Y.; Hardy, John; Alexander, Daniel C.; Strydom, André

Analysis of shared heritability in common disorders of the brain

Science, v. 360, (6395), article number 8757
The Brainstorm Consortium; MOK, Kin Ying Boniface

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

Proceedings of the National Academy of Sciences of the United States of America, v. 115, (8), p. 1697-1706
for the Alzheimer’s Disease Neuroimaging Initiative; Zhou, Xiaopu; CHEN, Yu; MOK, Kin Ying Boniface; Zhao, Qianhua; Chen, Keliang; CHEN, Yuewen; Hardy, John; Li, Yun; Fu, Amy K.Y.; Guo, Qihao; Ip, Nancy Y.

Neurofilament light as a blood biomarker for neurodegeneration in down syndrome

Alzheimer's Research and Therapy, v. 10, (1), article number 39
The LonDownS Consortium; Strydom, Andre; Heslegrave, Amanda; Startin, Carla M.; Mok, Kin Y.; Hardy, John; Groet, Jurgen; Nizetic, Dean; Zetterberg, Henrik; Fisher, Elizabeth; Tybulewicz, Victor; Karmiloff-Smith, Annette; Hamburg, Sarah; Hithersay, Rosalyn

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

Multiple Sclerosis and Related Disorders, v. 19, p. 168-170
Yaldizli, Özgür; Sethi, Varun; Pardini, Matteo; Tur, Carmen; Mok, Kin Y.; Muhlert, Nils; Liu, Zheng; Samson, Rebecca S.; Wheeler-Kingshott, Claudia A.M.; Yousry, Tarek A.; Houlden, Henry; Hardy, John; Miller, David H.; Chard, Declan T.

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

Neurology, v. 90, (23), p. E2059-E2067
International Research Group on 22q11.2DS-associated Parkinson's Disease; Boot, Erik; Butcher, Nancy J.; Udow, Sean; Marras, Connie; Mok, Kin Y.; Kaneko, Satoshi; Barrett, Matthew J.; Prontera, Paolo; Berman, Brian D.; Masellis, Mario; Dufournet, Boris; Nguyen, Karine; Charles, Perrine; Mutez, Eugénie; Danaila, Teodor; Jacquette, Aurélia; Colin, Olivier; Drapier, Sophie; Borg, Michel; Fiksinski, Ania M.; Vergaelen, Elfi; Swillen, Ann; Vogels, Annick; Plate, Annika; Perandones, Claudia; Gasser, Thomas; Clerinx, Kristien; Bourdain, Frédéric; Mills, Kelly; Williams, Nigel M.; Wood, Nicholas W.; Booij, Jan; Lang, Anthony E.; Bassett, Anne S.

Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype

Annals of Neurology, v. 84, (4), p. 485-496
Jabbari, Edwin; Woodside, John; Tan, Manuela M.X.; Shoai, Maryam; Pittman, Alan; Ferrari, Raffaele; Mok, Kin Y.; Zhang, David; Reynolds, Regina H.; de Silva, Rohan; Grimm, Max Joseph; Respondek, Gesine; Müller, Ulrich; Al-Sarraj, Safa; Gentleman, Stephen M.; Lees, Andrew J.; Warner, Thomas T.; Hardy, John; Revesz, Tamas; Höglinger, Günter U.; Holton, Janice L.; Ryten, Mina; Morris, Huw R.

Article 1

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

Neurobiology of Aging, v. 50, p. 167.e11-167.e13
International Parkinson's Disease Consortium (IPDGC); Giri, Anamika; Mok, Kin Y.; Jansen, Iris; Sharma, Manu; Tesson, Christelle; Mangone, Graziella; Lesage, Suzanne; Bras, José M.; Shulman, Joshua M.; Sheerin, Una Marie; Díez-Fairen, Mónica; Pastor, Pau; Martí, María José; Ezquerra, Mario; Tolosa, Eduardo; Correia-Guedes, Leonor; Ferreira, Joaquim; Amin, Najaf; van Duijn, Cornelia M.; van Rooij, Jeroen; Uitterlinden, André G.; Kraaij, Robert; Nalls, Michael; Simón-Sánchez, Javier

Article 5

A genome-wide association study in multiple system atrophy

Neurology, v. 87, (15), p. 1591-1598
On behalf of the European Multiple System Atrophy Study Group; the UK Multiple System Atrophy Study Group; Sailer, Anna; Scholz, Sonja W.; Nalls, Michael A.; Schulte, Claudia; Federoff, Monica; Price, T. Ryan; Lees, Andrew; Ross, Owen A.; Dickson, Dennis W.; Mok, Kin; Mencacci, Niccolo E.; Schottlaender, Lucia; Chelban, Viorica; Ling, Helen; O'Sullivan, Sean S.; Wood, Nicholas W.; Traynor, Bryan J.; Ferrucci, Luigi; Federoff, Howard J.; Mhyre, Timothy R.; Morris, Huw R.; Deuschl, Günther; Quinn, Niall; Widner, Hakan; Albanese, Alberto; Infante, Jon; Bhatia, Kailash P.; Poewe, Werner; Oertel, Wolfgang; Höglinger, Günter U.; Wüllner, Ullrich; Goldwurm, Stefano; Pellecchia, Maria Teresa; Ferreira, Joaquim; Tolosa, Eduardo; Bloem, Bastiaan R.; Rascol, Olivier; Meissner, Wassilios G.; Hardy, John A.; Revesz, Tamas; Holton, Janice L.; Gasser, Thomas; Wenning, Gregor K.; Singleton, Andrew B.; Houlden, Henry

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

Human Molecular Genetics, v. 25, (24), p. 5483-5489
for International Parkinson's Disease Genomics Consortium; Lubbe, Steven J.; Escott-Price, Valentina; Gibbs, J. Raphael; Nalls, Mike A.; Bras, Jose; Price, T. Ryan; Nicolas, Aude; Jansen, Iris E.; Mok, Kin Y.; Pittman, Alan M.; Tomkins, James E.; Lewis, Patrick A.; Noyce, Alastair J.; Lesage, Suzanne; Sharma, Manu; Schiff, Elena R.; Levine, Adam P.; Brice, Alexis; Gasser, Thomas; Hardy, John; Heutink, Peter; Wood, Nicholas W.; Singleton, Andrew B.; Williams, Nigel M.; Morris, Huw R.

Astrogliopathy predominates the earliest stage of corticobasal degeneration pathology

Brain, v. 139, (12), p. 3237-3252
Ling, Helen; Kovacs, Gabor G.; Vonsattel, Jean Paul G.; Davey, Karen; Mok, Kin Y.; Hardy, John; Morris, Huw R.; Warner, Thomas T.; Holton, Janice L.; Revesz, Tamas

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

The Lancet Neurology, v. 15, (6), p. 585-596
International Parkinson's Disease Genomics Consortium (IPDGC); Mok, Kin Y.; Sheerin, Una; Simón-Sánchez, Javier; Salaka, Afnan; Chester, Lucy; Escott-Price, Valentina; Mantripragada, Kiran; Doherty, Karen M.; Noyce, Alastair J.; Mencacci, Niccolo E.; Lubbe, Steven J.; Williams-Gray, Caroline H.; Barker, Roger A.; van Dijk, Karin D.; Berendse, Henk W.; Heutink, Peter; Corvol, Jean Christophe; Cormier, Florence; Lesage, Suzanne; Brice, Alexis; Brockmann, Kathrin; Schulte, Claudia; Gasser, Thomas; Foltynie, Thomas; Limousin, Patricia; Morrison, Karen E.; Clarke, Carl E.; Sawcer, Stephen; Warner, Tom T.; Lees, Andrew J.; Morris, Huw R.; Nalls, Mike A.; Singleton, Andrew B.; Hardy, John; Abramov, Andrey Y.; Plagnol, Vincent; Williams, Nigel M.; Wood, Nicholas W.

Parkinson's disease without nigral degeneration: a pathological correlate of scans without evidence of dopaminergic deficit (SWEDD)?

Journal of Neurology, Neurosurgery and Psychiatry, v. 87, (6), p. 633-641
Ling, Helen; Kearney, Seamus; Yip, Helen Lai Kuen; Silveira-Moriyama, Laura; Revesz, Tamas; Holton, Janice L.; Strand, Catherine; Davey, Karen; Mok, Kin Ying; Polke, James M.; Lees, Andrew J.

Conference paper 1

A pilot study of whole exome sequencing in progressive supranuclear palsy

Movement Disorders, v. 31, p. S200-S201, article number 609
International Parkinson's Disease Genomics Consortium (IPDGC); MOK, Kin Ying Boniface; Tucci, Arianna; de Silva, Rohan; Morris, Huw R.; Singleton, Andrew; Houlden, Henry; Hardy, John

Article 1

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

Neurobiology of Aging, v. 36, (1), p. 546.e1-546.e7
Fratta, Pietro; Polke, James M.; Newcombe, Jia; Mizielinska, Sarah; Lashley, Tammaryn; Poulter, Mark; Beck, Jon; Preza, Elisavet; Devoy, Anny; Sidle, Katie; Howard, Robin; Malaspina, Andrea; Orrell, Richard W.; Clarke, Jan; Lu, Ching Hua; Mok, Kin; Collins, Toby; Shoaii, Maryam; Nanji, Tina; Wray, Selina; Adamson, Gary; Pittman, Alan; Renton, Alan E.; Traynor, Bryan J.; Sweeney, Mary G.; Revesz, Tamas; Houlden, Henry; Mead, Simon; Isaacs, Adrian M.; Fisher, Elizabeth M.C.

Article 4

A familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma

Neurobiology of Aging, v. 35, (2), p. 444.e11-444.e14
Ferrari, Raffaele; Kero, Mia; Mok, Kin; Paetau, Anders; Tienari, Pentti J.; Tynninen, Olli; Hardy, John; Momeni, Parastoo; Verkkoniemi-Ahola, Auli; Myllykangas, Liisa

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

Movement Disorders, v. 29, (2), p. 245-251
Mok, Kin Y.; Schneider, Susanne A.; Trabzuni, Daniah; Stamelou, Maria; Edwards, Mark; Kasperaviciute, Dalia; Pickering-Brown, Stuart; Silverdale, Monty; Hardy, John; Bhatia, Kailash P.

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

Brain, v. 137, (9), p. 2480-2492
International Parkinson’s Disease Genomics Consortium (IPDGC); UCL-exomes consortium; Mencacci, Niccolò E.; Isaias, Ioannis U.; Reich, Martin M.; Ganos, Christos; Plagnol, Vincent; Polke, James M.; Bras, Jose; Hersheson, Joshua; Stamelou, Maria; Pittman, Alan M.; Noyce, Alastair J.; Mok, Kin Y.; Opladen, Thomas; Kunstmann, Erdmute; Hodecker, Sybille; Münchau, Alexander; Volkmann, Jens; Samnick, Samuel; Sidle, Katie; Nanji, Tina; Sweeney, Mary G.; Houlden, Henry; Batla, Amit; Zecchinelli, Anna L.; Pezzoli, Gianni; Marotta, Giorgio; Lees, Andrew; Alegria, Paulo; Krack, Paul; Cormier-Dequaire, Florence; Lesage, Suzanne; Brice, Alexis; Heutink, Peter; Gasser, Thomas; Lubbe, Steven J.; Morris, Huw R.; Taba, Pille; Koks, Sulev; Majounie, Elisa; Gibbs, J. Raphael; Singleton, Andrew; Hardy, John; Klebe, Stephan; Bhatia, Kailash P.; Wood, Nicholas W.

Polymorphisms in BACE2 may affect the age of onset alzheimer's dementia in down syndrome

Neurobiology of Aging, v. 35, (6), p. 1513.e1-1513.e5
Mok, Kin Y.; Jones, Emma L.; Hanney, Marisa; Harold, Denise; Sims, Rebecca; Williams, Julie; Ballard, Clive; Hardy, John

Article 3

Evidence that PICALM affects age at onset of alzheimer's dementia in down syndrome

Neurobiology of Aging, v. 34, (10), p. 2441.e1-2441.e5
Jones, Emma L.; Mok, Kin; Hanney, Marisa; Harold, Denise; Sims, Rebecca; Williams, Julie; Ballard, Clive

Homozygosity analysis in amyotrophic lateral sclerosis

European Journal of Human Genetics, v. 21, (12), p. 1429-1435
Mok, Kin; Laaksovirta, Hannu; Tienari, Pentti J.; Peuralinna, Terhi; Myllykangas, Liisa; Chiò, Adriano; Traynor, Bryan J.; Nalls, Michael A.; Gurunlian, Nicole; Shatunov, Aleksey; Restagno, Gabriella; Mora, Gabriele; Nigel Leigh, P.; Shaw, Chris E.; Morrison, Karen E.; Shaw, Pamela J.; Al-Chalabi, Ammar; Hardy, John; Orrell, Richard W.

Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause brown-vialetto-van laere syndrome

Journal of the Neurological Sciences, v. 334, (1-2), p. 119-122
Nalini, Atchayaram; Pandraud, Amelie; Mok, Kin; Houlden, Henry

Article 8

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

Bioinformatics, v. 28, (21), p. 2747-2754
Plagnol, Vincent; Curtis, James; Epstein, Michael; Mok, Kin Y.; Stebbings, Emma; Grigoriadou, Sofia; Wood, Nicholas W.; Hambleton, Sophie; Burns, Siobhan O.; Thrasher, Adrian J.; Kumararatne, Dinakantha; Doffinger, Rainer; Nejentsev, Sergey

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

Brain, v. 135, (3), p. 751-764
Cooper-Knock, Johnathan; Hewitt, Christopher; Highley, J. Robin; Brockington, Alice; Milano, Antonio; Man, Somai; Martindale, Joanne; Hartley, Judith; Walsh, Theresa; Gelsthorpe, Catherine; Baxter, Lynne; Forster, Gillian; Fox, Melanie; Bury, Joanna; Mok, Kin; McDermott, Christopher J.; Traynor, Bryan J.; Kirby, Janine; Wharton, Stephen B.; Ince, Paul G.; Hardy, John; Shaw, Pamela J.

Familial lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion

Neurobiology of Aging, v. 33, (8), p. 1850.e13-1850.e16
Englund, Elisabet; Gustafson, Lars; Passant, Ulla; Majounie, Elisa; Renton, Alan E.; Traynor, Bryan J.; Rohrer, Jonathan D.; Mok, Kin; Hardy, John

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

Brain, v. 135, (3), p. 736-750
Mahoney, Colin J.; Beck, Jon; Rohrer, Jonathan D.; Lashley, Tammaryn; Mok, Kin; Shakespeare, Tim; Yeatman, Tom; Warrington, Elizabeth K.; Schott, Jonathan M.; Fox, Nick C.; Rossor, Martin N.; Hardy, John; Collinge, John; Revesz, Tamas; Mead, Simon; Warren, Jason D.

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

Neurobiology of Aging, v. 33, (8), p. 1851.e1-1851.e5
Mok, Kin Y.; Koutsis, Georgios; Schottlaender, Lucia V.; Polke, James; Panas, Marios; Houlden, Henry

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

Journal of Allergy and Clinical Immunology, v. 130, (6), p. 1428-1432
Burns, Siobhan O.; Zenner, Helen L.; Plagnol, Vincent; Curtis, James; Mok, Kin; Eisenhut, Michael; Kumararatne, Dinakantha; Doffinger, Rainer; Thrasher, Adrian J.; Nejentsev, Sergey

Screening for C9ORF72 repeat expansion in FTLD

Neurobiology of Aging, v. 33, (8), p. 1850.e1-1850.e11
Ferrari, Raffaele; Mok, Kin; Moreno, Jorge H.; Cosentino, Stephanie; Goldman, Jill; Pietrini, Pietro; Mayeux, Richard; Tierney, Michael C.; Kapogiannis, Dimitrios; Jicha, Gregory A.; Murrell, Jill R.; Ghetti, Bernardino; Wassermann, Eric M.; Grafman, Jordan; Hardy, John; Huey, Edward D.; Momeni, Parastoo

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

Neurobiology of Aging, v. 33, (1), p. 209.e3-209.e8
Mok, Kin; Traynor, Bryan J.; Schymick, Jennifer; Tienari, Pentti J.; Laaksovirta, Hannu; Peuralinna, Terhi; Myllykangas, Liisa; Chiò, Adriano; Shatunov, Aleksey; Boeve, Bradley F.; Boxer, Adam L.; DeJesus-Hernandez, Mariely; Mackenzie, Ian R.; Waite, Adrian; Williams, Nigel; Morris, Huw R.; Simón-Sánchez, Javier; van Swieten, John C.; Heutink, Peter; Restagno, Gabriella; Mora, Gabriele; Morrison, Karen E.; Shaw, Pamela J.; Rollinson, Pamela Sara; Al-Chalabi, Ammar; Rademakers, Rosa; Pickering-Brown, Stuart; Orrell, Richard W.; Nalls, Michael A.; Hardy, John

2020 4

Differential Associations of Apolipoprotein e ϵ4 Genotype with Attentional Abilities Across the Life Span of Individuals with Down Syndrome

JAMA Network Open, v. 3, (9), p. E2018221
D'Souza, Hana; Mason, Luke; Mok, Kin Y.; Startin, Carla M.; Hamburg, Sarah; Hithersay, Rosalyn; Baksh, R. Asaad; Hardy, John; Strydom, Andre; Thomas, Michael S.C.
Article

Fibrillation and molecular characteristics are coherent with clinical and pathological features of 4-repeat tauopathy caused by MAPT variant G273R

Neurobiology of Disease, v. 146, article number 105079
Sandberg, Alexander; Ling, Helen; Gearing, Marla; Dombroski, Beth; Cantwell, Laura; R'Bibo, Lea; Levey, Allan; Schellenberg, Gerard D.; Hardy, John; Wood, Nicholas; Fernius, Josefin; Nyström, Sofie; Svensson, Samuel; Thor, Stefan; Hammarström, Per; Revesz, Tamas; Mok, Kin Y.
Article

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

Acta Neuropathologica, v. 139, (4), p. 717-734
Ling, Helen; Gelpi, Ellen; Davey, Karen; Jaunmuktane, Zane; Mok, Kin Y.; Jabbari, Edwin; Simone, Roberto; R’Bibo, Lea; Brandner, Sebastian; Ellis, Matthew J.; Attems, Johannes; Mann, David; Halliday, Glenda M.; Al-Sarraj, S.; Hedreen, J.; Ironside, James W.; Kovacs, Gabor G.; Kovari, E.; Love, S.; Vonsattel, Jean Paul G.; Allinson, Kieren S.J.; Hansen, Daniela; Bradshaw, Teisha; Setó-Salvia, Núria; Wray, Selina; de Silva, Rohan; Morris, Huw R.; Warner, Thomas T.; Hardy, John; Holton, Janice L.; Revesz, Tamas
Article

Genetic and polygenic risk score analysis for Alzheimer's disease in the Chinese population

Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring, v. 12, (1), article number e12074
Zhou, Xiaopu; CHEN, Yu; IP, Fanny Chui Fun; LAI, Nicole C.H.; LI, Yolanda Y.T.; JIANG, Yuanbing; ZHONG, Huan; CHEN, Yuewen; ZHANG, Yulin; MA, Shuangshuang; LO, Ronnie Ming Nok; CHEUNG, Chi Kit; TONG, Estella Pui Sze; Ko, Ho; Shoai, Maryam; MOK, Kin Ying Boniface; Hardy, John; Mok, Vincent C.T.; Kwok, Timothy C.Y.; Fu, Amy K.Y.; Ip, Nancy Y.
Article

2019 8

Association of dementia with mortality among adults with down syndrome older than 35 years

JAMA Neurology, v. 76, (2), p. 152-160
Hithersay, Rosalyn; Startin, Carla M.; Hamburg, Sarah; Mok, Kin Y.; Hardy, John; Fisher, Elizabeth M.C.; Tybulewicz, Victor L.J.; Nizetic, Dean; Strydom, André
Article

C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy

Acta Neuropathologica, v. 138, (5), p. 795-811
Cali, Christopher P.; Patino, Maribel; Tai, Yee Kit; Ho, Wan Yun; McLean, Catriona A.; Morris, Christopher M.; Seeley, William W.; Miller, Bruce L.; Gaig, Carles; Vonsattel, Jean Paul G.; White, Charles L.; Roeber, Sigrun; Kretzschmar, Hans; Troncoso, Juan C.; Troakes, Claire; Gearing, Marla; Ghetti, Bernardino; Van Deerlin, Vivianna M.; Lee, Virginia M.Y.; Trojanowski, John Q.; Mok, Kin Y.; Ling, Helen; Dickson, Dennis W.; Schellenberg, Gerard D.; Ling, Shuo Chien; Lee, Edward B.
Article

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

Alzheimer's and Dementia, v. 15, (2), p. 245-257
LonDownS Consortium; Startin, Carla M.; Hamburg, Sarah; Hithersay, Rosalyn; Al-Janabi, Tamara; Mok, Kin Y.; Hardy, John; Strydom, Andre
Article

Non-coding variability at the APOE locus contributes to the Alzheimer’s risk

Nature Communications, v. 10, (1), article number 3310
Alzheimer’s Disease Neuroimaging Initiative; Zhou, Xiaopu; CHEN, Yu; MOK, Kin Ying Boniface; IP, Fanny Chui Fun; CHEN, Yuewen; MULLAPUDI, Nandita; Fu, Amy K.Y.; Ip, Nancy Y.
Article

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

Alzheimer's Research and Therapy, v. 11, (1), article number 26
LonDownS Consortium; Startin, Carla M.; Ashton, Nicholas J.; Hamburg, Sarah; Hithersay, Rosalyn; Wiseman, Frances K.; Mok, Kin Y.; Hardy, John; Lleó, Alberto; Lovestone, Simon; Parnetti, Lucilla; Zetterberg, Henrik; Hye, Abdul; Fisher, Elizabeth; Nizetic, Dean; Tybulewicz, Victor; Karmiloff-Smith, Annette; Al-Janabi, Tamara; Zhang, David; Strydom, André
Article

Intermediate C9orf72 Repeats in Corticobasal Degeneration

Journal of Neuropathology and Experimental Neurology, v. 78, (6), p. 520, article number 2
PSP Genetics Consortium; Cali, Christopher P.; Patino, Maribel; Phan, Jessica; Ghetti, Bernardino; Van Deerlin, Vivianna M.; Lee, Virginia; Trojanowski, John Q.; MOK, Kin Ying Boniface; Ling, Helen; Dickson, Dennis W.; Schellenberg, Gerard D.; Lee, Edward B.
Conference paper

Non-coding variability at the APOE locus contributes to the Alzheimer’s risk

Zhou, Xiaopu; Chen, Yu; Mok, Kin Ying Boniface; Kwok, T.C.Y.; Mok, V.C.T.; Guo, Q.; Ip, Fanny C.F.; Chen, Y.; Mullapudi, Nandita; Hardy, J.; Fu, Kit Yu; Li, Y.; Ip, Nancy Yuk-yu
Conference paper

Whole-genome sequencing for Alzheimer’s disease risk in the Chinese population

Paper presented at Gordon Research Conference on Cognitive Dysfunction in Brain Diseases
Chen, Y.; Guo, Q.; Hardy, J.; Li, Y.; Mok, V.C.T.; Mok, Kin Ying Boniface; Chen, Yu; Fu, Kit Yu; Ip, Nancy Yuk-yu; Ip, Fanny C.F.; Zhou, Xiaopu
Conference paper

2018 7

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

Annals of Clinical and Translational Neurology, v. 5, (6), p. 741-751
The LonDownS Consortium; Firth, Nicholas C.; Startin, Carla M.; Hithersay, Rosalyn; Hamburg, Sarah; Wijeratne, Peter A.; Mok, Kin Y.; Hardy, John; Alexander, Daniel C.; Strydom, André
Article

Analysis of shared heritability in common disorders of the brain

Science, v. 360, (6395), article number 8757
The Brainstorm Consortium; MOK, Kin Ying Boniface
Article

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

Proceedings of the National Academy of Sciences of the United States of America, v. 115, (8), p. 1697-1706
for the Alzheimer’s Disease Neuroimaging Initiative; Zhou, Xiaopu; CHEN, Yu; MOK, Kin Ying Boniface; Zhao, Qianhua; Chen, Keliang; CHEN, Yuewen; Hardy, John; Li, Yun; Fu, Amy K.Y.; Guo, Qihao; Ip, Nancy Y.
Article

Neurofilament light as a blood biomarker for neurodegeneration in down syndrome

Alzheimer's Research and Therapy, v. 10, (1), article number 39
The LonDownS Consortium; Strydom, Andre; Heslegrave, Amanda; Startin, Carla M.; Mok, Kin Y.; Hardy, John; Groet, Jurgen; Nizetic, Dean; Zetterberg, Henrik; Fisher, Elizabeth; Tybulewicz, Victor; Karmiloff-Smith, Annette; Hamburg, Sarah; Hithersay, Rosalyn
Article

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

Multiple Sclerosis and Related Disorders, v. 19, p. 168-170
Yaldizli, Özgür; Sethi, Varun; Pardini, Matteo; Tur, Carmen; Mok, Kin Y.; Muhlert, Nils; Liu, Zheng; Samson, Rebecca S.; Wheeler-Kingshott, Claudia A.M.; Yousry, Tarek A.; Houlden, Henry; Hardy, John; Miller, David H.; Chard, Declan T.
Article

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

Neurology, v. 90, (23), p. E2059-E2067
International Research Group on 22q11.2DS-associated Parkinson's Disease; Boot, Erik; Butcher, Nancy J.; Udow, Sean; Marras, Connie; Mok, Kin Y.; Kaneko, Satoshi; Barrett, Matthew J.; Prontera, Paolo; Berman, Brian D.; Masellis, Mario; Dufournet, Boris; Nguyen, Karine; Charles, Perrine; Mutez, Eugénie; Danaila, Teodor; Jacquette, Aurélia; Colin, Olivier; Drapier, Sophie; Borg, Michel; Fiksinski, Ania M.; Vergaelen, Elfi; Swillen, Ann; Vogels, Annick; Plate, Annika; Perandones, Claudia; Gasser, Thomas; Clerinx, Kristien; Bourdain, Frédéric; Mills, Kelly; Williams, Nigel M.; Wood, Nicholas W.; Booij, Jan; Lang, Anthony E.; Bassett, Anne S.
Article

Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype

Annals of Neurology, v. 84, (4), p. 485-496
Jabbari, Edwin; Woodside, John; Tan, Manuela M.X.; Shoai, Maryam; Pittman, Alan; Ferrari, Raffaele; Mok, Kin Y.; Zhang, David; Reynolds, Regina H.; de Silva, Rohan; Grimm, Max Joseph; Respondek, Gesine; Müller, Ulrich; Al-Sarraj, Safa; Gentleman, Stephen M.; Lees, Andrew J.; Warner, Thomas T.; Hardy, John; Revesz, Tamas; Höglinger, Günter U.; Holton, Janice L.; Ryten, Mina; Morris, Huw R.
Article

2017 1

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

Neurobiology of Aging, v. 50, p. 167.e11-167.e13
International Parkinson's Disease Consortium (IPDGC); Giri, Anamika; Mok, Kin Y.; Jansen, Iris; Sharma, Manu; Tesson, Christelle; Mangone, Graziella; Lesage, Suzanne; Bras, José M.; Shulman, Joshua M.; Sheerin, Una Marie; Díez-Fairen, Mónica; Pastor, Pau; Martí, María José; Ezquerra, Mario; Tolosa, Eduardo; Correia-Guedes, Leonor; Ferreira, Joaquim; Amin, Najaf; van Duijn, Cornelia M.; van Rooij, Jeroen; Uitterlinden, André G.; Kraaij, Robert; Nalls, Michael; Simón-Sánchez, Javier
Article

2016 6

A genome-wide association study in multiple system atrophy

Neurology, v. 87, (15), p. 1591-1598
On behalf of the European Multiple System Atrophy Study Group; the UK Multiple System Atrophy Study Group; Sailer, Anna; Scholz, Sonja W.; Nalls, Michael A.; Schulte, Claudia; Federoff, Monica; Price, T. Ryan; Lees, Andrew; Ross, Owen A.; Dickson, Dennis W.; Mok, Kin; Mencacci, Niccolo E.; Schottlaender, Lucia; Chelban, Viorica; Ling, Helen; O'Sullivan, Sean S.; Wood, Nicholas W.; Traynor, Bryan J.; Ferrucci, Luigi; Federoff, Howard J.; Mhyre, Timothy R.; Morris, Huw R.; Deuschl, Günther; Quinn, Niall; Widner, Hakan; Albanese, Alberto; Infante, Jon; Bhatia, Kailash P.; Poewe, Werner; Oertel, Wolfgang; Höglinger, Günter U.; Wüllner, Ullrich; Goldwurm, Stefano; Pellecchia, Maria Teresa; Ferreira, Joaquim; Tolosa, Eduardo; Bloem, Bastiaan R.; Rascol, Olivier; Meissner, Wassilios G.; Hardy, John A.; Revesz, Tamas; Holton, Janice L.; Gasser, Thomas; Wenning, Gregor K.; Singleton, Andrew B.; Houlden, Henry
Article

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

Human Molecular Genetics, v. 25, (24), p. 5483-5489
for International Parkinson's Disease Genomics Consortium; Lubbe, Steven J.; Escott-Price, Valentina; Gibbs, J. Raphael; Nalls, Mike A.; Bras, Jose; Price, T. Ryan; Nicolas, Aude; Jansen, Iris E.; Mok, Kin Y.; Pittman, Alan M.; Tomkins, James E.; Lewis, Patrick A.; Noyce, Alastair J.; Lesage, Suzanne; Sharma, Manu; Schiff, Elena R.; Levine, Adam P.; Brice, Alexis; Gasser, Thomas; Hardy, John; Heutink, Peter; Wood, Nicholas W.; Singleton, Andrew B.; Williams, Nigel M.; Morris, Huw R.
Article

Astrogliopathy predominates the earliest stage of corticobasal degeneration pathology

Brain, v. 139, (12), p. 3237-3252
Ling, Helen; Kovacs, Gabor G.; Vonsattel, Jean Paul G.; Davey, Karen; Mok, Kin Y.; Hardy, John; Morris, Huw R.; Warner, Thomas T.; Holton, Janice L.; Revesz, Tamas
Article

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

The Lancet Neurology, v. 15, (6), p. 585-596
International Parkinson's Disease Genomics Consortium (IPDGC); Mok, Kin Y.; Sheerin, Una; Simón-Sánchez, Javier; Salaka, Afnan; Chester, Lucy; Escott-Price, Valentina; Mantripragada, Kiran; Doherty, Karen M.; Noyce, Alastair J.; Mencacci, Niccolo E.; Lubbe, Steven J.; Williams-Gray, Caroline H.; Barker, Roger A.; van Dijk, Karin D.; Berendse, Henk W.; Heutink, Peter; Corvol, Jean Christophe; Cormier, Florence; Lesage, Suzanne; Brice, Alexis; Brockmann, Kathrin; Schulte, Claudia; Gasser, Thomas; Foltynie, Thomas; Limousin, Patricia; Morrison, Karen E.; Clarke, Carl E.; Sawcer, Stephen; Warner, Tom T.; Lees, Andrew J.; Morris, Huw R.; Nalls, Mike A.; Singleton, Andrew B.; Hardy, John; Abramov, Andrey Y.; Plagnol, Vincent; Williams, Nigel M.; Wood, Nicholas W.
Article

Parkinson's disease without nigral degeneration: a pathological correlate of scans without evidence of dopaminergic deficit (SWEDD)?

Journal of Neurology, Neurosurgery and Psychiatry, v. 87, (6), p. 633-641
Ling, Helen; Kearney, Seamus; Yip, Helen Lai Kuen; Silveira-Moriyama, Laura; Revesz, Tamas; Holton, Janice L.; Strand, Catherine; Davey, Karen; Mok, Kin Ying; Polke, James M.; Lees, Andrew J.
Article

A pilot study of whole exome sequencing in progressive supranuclear palsy

Movement Disorders, v. 31, p. S200-S201, article number 609
International Parkinson's Disease Genomics Consortium (IPDGC); MOK, Kin Ying Boniface; Tucci, Arianna; de Silva, Rohan; Morris, Huw R.; Singleton, Andrew; Houlden, Henry; Hardy, John
Conference paper

2015 1

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

Neurobiology of Aging, v. 36, (1), p. 546.e1-546.e7
Fratta, Pietro; Polke, James M.; Newcombe, Jia; Mizielinska, Sarah; Lashley, Tammaryn; Poulter, Mark; Beck, Jon; Preza, Elisavet; Devoy, Anny; Sidle, Katie; Howard, Robin; Malaspina, Andrea; Orrell, Richard W.; Clarke, Jan; Lu, Ching Hua; Mok, Kin; Collins, Toby; Shoaii, Maryam; Nanji, Tina; Wray, Selina; Adamson, Gary; Pittman, Alan; Renton, Alan E.; Traynor, Bryan J.; Sweeney, Mary G.; Revesz, Tamas; Houlden, Henry; Mead, Simon; Isaacs, Adrian M.; Fisher, Elizabeth M.C.
Article

2014 4

A familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma

Neurobiology of Aging, v. 35, (2), p. 444.e11-444.e14
Ferrari, Raffaele; Kero, Mia; Mok, Kin; Paetau, Anders; Tienari, Pentti J.; Tynninen, Olli; Hardy, John; Momeni, Parastoo; Verkkoniemi-Ahola, Auli; Myllykangas, Liisa
Article

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

Movement Disorders, v. 29, (2), p. 245-251
Mok, Kin Y.; Schneider, Susanne A.; Trabzuni, Daniah; Stamelou, Maria; Edwards, Mark; Kasperaviciute, Dalia; Pickering-Brown, Stuart; Silverdale, Monty; Hardy, John; Bhatia, Kailash P.
Article

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

Brain, v. 137, (9), p. 2480-2492
International Parkinson’s Disease Genomics Consortium (IPDGC); UCL-exomes consortium; Mencacci, Niccolò E.; Isaias, Ioannis U.; Reich, Martin M.; Ganos, Christos; Plagnol, Vincent; Polke, James M.; Bras, Jose; Hersheson, Joshua; Stamelou, Maria; Pittman, Alan M.; Noyce, Alastair J.; Mok, Kin Y.; Opladen, Thomas; Kunstmann, Erdmute; Hodecker, Sybille; Münchau, Alexander; Volkmann, Jens; Samnick, Samuel; Sidle, Katie; Nanji, Tina; Sweeney, Mary G.; Houlden, Henry; Batla, Amit; Zecchinelli, Anna L.; Pezzoli, Gianni; Marotta, Giorgio; Lees, Andrew; Alegria, Paulo; Krack, Paul; Cormier-Dequaire, Florence; Lesage, Suzanne; Brice, Alexis; Heutink, Peter; Gasser, Thomas; Lubbe, Steven J.; Morris, Huw R.; Taba, Pille; Koks, Sulev; Majounie, Elisa; Gibbs, J. Raphael; Singleton, Andrew; Hardy, John; Klebe, Stephan; Bhatia, Kailash P.; Wood, Nicholas W.
Article

Polymorphisms in BACE2 may affect the age of onset alzheimer's dementia in down syndrome

Neurobiology of Aging, v. 35, (6), p. 1513.e1-1513.e5
Mok, Kin Y.; Jones, Emma L.; Hanney, Marisa; Harold, Denise; Sims, Rebecca; Williams, Julie; Ballard, Clive; Hardy, John
Article

2013 3

Evidence that PICALM affects age at onset of alzheimer's dementia in down syndrome

Neurobiology of Aging, v. 34, (10), p. 2441.e1-2441.e5
Jones, Emma L.; Mok, Kin; Hanney, Marisa; Harold, Denise; Sims, Rebecca; Williams, Julie; Ballard, Clive
Article

Homozygosity analysis in amyotrophic lateral sclerosis

European Journal of Human Genetics, v. 21, (12), p. 1429-1435
Mok, Kin; Laaksovirta, Hannu; Tienari, Pentti J.; Peuralinna, Terhi; Myllykangas, Liisa; Chiò, Adriano; Traynor, Bryan J.; Nalls, Michael A.; Gurunlian, Nicole; Shatunov, Aleksey; Restagno, Gabriella; Mora, Gabriele; Nigel Leigh, P.; Shaw, Chris E.; Morrison, Karen E.; Shaw, Pamela J.; Al-Chalabi, Ammar; Hardy, John; Orrell, Richard W.
Article

Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause brown-vialetto-van laere syndrome

Journal of the Neurological Sciences, v. 334, (1-2), p. 119-122
Nalini, Atchayaram; Pandraud, Amelie; Mok, Kin; Houlden, Henry
Article

2012 8

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

Bioinformatics, v. 28, (21), p. 2747-2754
Plagnol, Vincent; Curtis, James; Epstein, Michael; Mok, Kin Y.; Stebbings, Emma; Grigoriadou, Sofia; Wood, Nicholas W.; Hambleton, Sophie; Burns, Siobhan O.; Thrasher, Adrian J.; Kumararatne, Dinakantha; Doffinger, Rainer; Nejentsev, Sergey
Article

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

Brain, v. 135, (3), p. 751-764
Cooper-Knock, Johnathan; Hewitt, Christopher; Highley, J. Robin; Brockington, Alice; Milano, Antonio; Man, Somai; Martindale, Joanne; Hartley, Judith; Walsh, Theresa; Gelsthorpe, Catherine; Baxter, Lynne; Forster, Gillian; Fox, Melanie; Bury, Joanna; Mok, Kin; McDermott, Christopher J.; Traynor, Bryan J.; Kirby, Janine; Wharton, Stephen B.; Ince, Paul G.; Hardy, John; Shaw, Pamela J.
Article

Familial lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion

Neurobiology of Aging, v. 33, (8), p. 1850.e13-1850.e16
Englund, Elisabet; Gustafson, Lars; Passant, Ulla; Majounie, Elisa; Renton, Alan E.; Traynor, Bryan J.; Rohrer, Jonathan D.; Mok, Kin; Hardy, John
Article

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

Brain, v. 135, (3), p. 736-750
Mahoney, Colin J.; Beck, Jon; Rohrer, Jonathan D.; Lashley, Tammaryn; Mok, Kin; Shakespeare, Tim; Yeatman, Tom; Warrington, Elizabeth K.; Schott, Jonathan M.; Fox, Nick C.; Rossor, Martin N.; Hardy, John; Collinge, John; Revesz, Tamas; Mead, Simon; Warren, Jason D.
Article

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

Neurobiology of Aging, v. 33, (8), p. 1851.e1-1851.e5
Mok, Kin Y.; Koutsis, Georgios; Schottlaender, Lucia V.; Polke, James; Panas, Marios; Houlden, Henry
Article

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

Journal of Allergy and Clinical Immunology, v. 130, (6), p. 1428-1432
Burns, Siobhan O.; Zenner, Helen L.; Plagnol, Vincent; Curtis, James; Mok, Kin; Eisenhut, Michael; Kumararatne, Dinakantha; Doffinger, Rainer; Thrasher, Adrian J.; Nejentsev, Sergey
Article

Screening for C9ORF72 repeat expansion in FTLD

Neurobiology of Aging, v. 33, (8), p. 1850.e1-1850.e11
Ferrari, Raffaele; Mok, Kin; Moreno, Jorge H.; Cosentino, Stephanie; Goldman, Jill; Pietrini, Pietro; Mayeux, Richard; Tierney, Michael C.; Kapogiannis, Dimitrios; Jicha, Gregory A.; Murrell, Jill R.; Ghetti, Bernardino; Wassermann, Eric M.; Grafman, Jordan; Hardy, John; Huey, Edward D.; Momeni, Parastoo
Article

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

Neurobiology of Aging, v. 33, (1), p. 209.e3-209.e8
Mok, Kin; Traynor, Bryan J.; Schymick, Jennifer; Tienari, Pentti J.; Laaksovirta, Hannu; Peuralinna, Terhi; Myllykangas, Liisa; Chiò, Adriano; Shatunov, Aleksey; Boeve, Bradley F.; Boxer, Adam L.; DeJesus-Hernandez, Mariely; Mackenzie, Ian R.; Waite, Adrian; Williams, Nigel; Morris, Huw R.; Simón-Sánchez, Javier; van Swieten, John C.; Heutink, Peter; Restagno, Gabriella; Mora, Gabriele; Morrison, Karen E.; Shaw, Pamela J.; Rollinson, Pamela Sara; Al-Chalabi, Ammar; Rademakers, Rosa; Pickering-Brown, Stuart; Orrell, Richard W.; Nalls, Michael A.; Hardy, John
Article

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Deciphering the Factors of Longevity through a Multi-Omics Study in Long-Lived Individuals in Hong Kong

通過多組學研究解密香港長壽個體的長壽因素 Participating

Bright Future Charitable Foundation Limited
Project Team (HKUST)
IP Nancy Yuk-Yu (Lead)

FU Amy Kit Yu

MOK Kin Ying Boniface

WONG Hiu Yi
2025 -
Comprehensive database of Alzheimer's disease for Han Chinese in Hong Kong

「阿茲海默氏癥」神經退化疾病研究 Participating

Chow Tai Fook Charity Foundation Limited
Project Team (HKUST)
IP Nancy Yuk-Yu (Lead)

FU Amy Kit Yu

MOK Kin Ying Boniface
2017 -

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Projects

From January 2024 to December 2026

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