Publications by authors named "Pak Sham"

99Publications

vSampler: fast and annotation-based matched variant sampling tool.

Bioinformatics 2020 Oct 16. Epub 2020 Oct 16.

Department of Epidemiology and Biostatistics, National Clinical Research Center for Cancer, Tianjin Medical University Cancer Institute and Hospital, Tianjin Medical University, Tianjin 300070, China.

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October 2020

Ultrafast and scalable variant annotation and prioritization with big functional genomics data.

Genome Res 2020 Dec 15;30(12):1789-1801. Epub 2020 Oct 15.

The Province and Ministry Co-sponsored Collaborative Innovation Center for Medical Epigenetics, National Clinical Research Center for Cancer, Tianjin Medical University Cancer Institute and Hospital, Tianjin Medical University, Tianjin 300070, China.

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December 2020

The support of genetic evidence for cardiovascular risk induced by antineoplastic drugs.

Sci Adv 2020 Oct 14;6(42). Epub 2020 Oct 14.

Department of Pharmacology, Tianjin Key Laboratory of Inflammation Biology, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.

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October 2020

Systemic neuro-dysregulation in depression: Evidence from genome-wide association.

Eur Neuropsychopharmacol 2020 10 4;39:1-18. Epub 2020 Sep 4.

Department of Psychiatry, The University of Hong Kong, Hong Kong; State Key Laboratory of Brain and Cognitive Sciences, The University of Hong Kong, Hong Kong; Centre of PanorOmic Sciences, The University of Hong Kong, Hong Kong. Electronic address:

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October 2020

Associations between CLU polymorphisms and memory performance: The role of serum lipids in Alzheimer's disease.

J Psychiatr Res 2020 10 29;129:281-288. Epub 2020 Jul 29.

School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong; State Key Laboratory of Brain and Cognitive Sciences, The University of Hong Kong, Hong Kong; Alzheimer's Disease Research Network, Strategic Research Theme on Aging, The University of Hong Kong, Hong Kong. Electronic address:

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October 2020

The Genes We Inherit and Those We Don't: Maternal Genetic Nurture and Child BMI Trajectories.

Behav Genet 2020 Sep 17;50(5):310-319. Epub 2020 Jul 17.

Department of Psychiatry, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong SAR, China.

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September 2020

Statistical Power and the Classical Twin Design.

Twin Res Hum Genet 2020 04;23(2):87-89

Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.

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April 2020

Intermediate confounding in trio relationships: The importance of complete data in effect size estimation.

Genet Epidemiol 2020 06 27;44(4):395-399. Epub 2020 Mar 27.

Department of Psychiatry, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong SAR, China.

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June 2020

Interleukin-18 levels in the hippocampus and behavior of adult rat offspring exposed to prenatal restraint stress during early and late pregnancy.

Neural Regen Res 2020 Sep;15(9):1748-1756

Department of Psychiatry; State Key Laboratory of Brain and Cognitive Sciences; Centre for Genomic Sciences, The University of Hong Kong, Hong Kong Special Administrative Region, China.

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September 2020

Directed Differentiation of Notochord-like and Nucleus Pulposus-like Cells Using Human Pluripotent Stem Cells.

Cell Rep 2020 02;30(8):2791-2806.e5

Department of Medicine, Li Ka Shing Faculty of Medicine, the University of Hong Kong, Hong Kong; Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, Guangdong 510080, China; The State Key Laboratory of Pharmaceutical Biotechnology, the University of Hong Kong, Hong Kong. Electronic address:

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February 2020

Methods and resources to access mutation-dependent effects on cancer drug treatment.

Brief Bioinform 2020 Dec;21(6):1886-1903

Department of Pharmacology, Tianjin Key Laboratory of Inflammation Biology, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.

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December 2020

DESE: estimating driver tissues by selective expression of genes associated with complex diseases or traits.

Genome Biol 2019 11 6;20(1):233. Epub 2019 Nov 6.

Zhongshan School of Medicine, Center for Precision Medicine, Sun Yat-sen University, Guangzhou, 510080, China.

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November 2019

CAUSALdb: a database for disease/trait causal variants identified using summary statistics of genome-wide association studies.

Nucleic Acids Res 2020 01;48(D1):D807-D816

2011 Collaborative Innovation Center of Tianjin for Medical Epigenetics, National Clinical Research Center for Cancer, Tianjin Medical University Cancer Institute and Hospital, Tianjin Medical University, Tianjin, China.

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January 2020

Biased cognition in East Asian and Western cultures.

PLoS One 2019 15;14(10):e0223358. Epub 2019 Oct 15.

Department of Experimental Psychology, University of Oxford, Oxford, England, United Kingdom.

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March 2020

QTLbase: an integrative resource for quantitative trait loci across multiple human molecular phenotypes.

Nucleic Acids Res 2020 01;48(D1):D983-D991

Department of Pharmacology, Tianjin Key Laboratory of Inflammation Biology, 2011 Collaborative Innovation Center of Tianjin for Medical Epigenetics, School of Basic Medical Sciences, National Clinical Research Center for Cancer, Tianjin Medical University Cancer Institute and Hospital, Tianjin Medical University, Tianjin 300070, China.

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January 2020

The Maudsley environmental risk score for psychosis.

Psychol Med 2020 10 19;50(13):2213-2220. Epub 2019 Sep 19.

Health Service and Population Research, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.

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October 2020

regBase: whole genome base-wise aggregation and functional prediction for human non-coding regulatory variants.

Nucleic Acids Res 2019 12;47(21):e134

Department of Pharmacology, School of Basic Medical Sciences, Tianjin Key Laboratory of Inflammation Biology, National Clinical Research Center for Cancer, Tianjin Medical University Cancer Institute and Hospital, Tianjin Medical University, Tianjin, China.

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December 2019

Inheritance of Neural Substrates for Motivation and Pleasure.

Psychol Sci 2019 08 18;30(8):1205-1217. Epub 2019 Jul 18.

1 Neuropsychology and Applied Cognitive Neuroscience Laboratory, CAS Key Laboratory of Mental Health, Institute of Psychology, Chinese Academy of Sciences.

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August 2019

Ten-year employment patterns of patients with first-episode schizophrenia-spectrum disorders: comparison of early intervention and standard care services.

Br J Psychiatry 2020 09;217(3):491-497

Clinical Professor, Department of Psychiatry, Li Ka Shing Faculty of Medicine, and The State Key Laboratory of Brain and Cognitive Sciences, The University of Hong Kong, Hong Kong.

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September 2020

Commonality in dysregulated expression of gene sets in cortical brains of individuals with autism, schizophrenia, and bipolar disorder.

Transl Psychiatry 2019 05 24;9(1):152. Epub 2019 May 24.

Department of Psychiatry, The University of Hong Kong, Hong Kong, China.

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May 2019

Rational use of mesenchymal stem cells in the treatment of autism spectrum disorders.

World J Stem Cells 2019 Feb;11(2):55-72

Department of Psychiatry, the University of Hong Kong, Hong Kong, China.

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February 2019

Cancer gene mutations in congenital pulmonary airway malformation patients.

ERJ Open Res 2019 Feb 4;5(1). Epub 2019 Feb 4.

Dept of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.

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February 2019

A joint study of whole exome sequencing and structural MRI analysis in major depressive disorder.

Psychol Med 2020 02 6;50(3):384-395. Epub 2019 Feb 6.

Psychiatric Laboratory and Mental Health Center, The State Key Laboratory of Biotherapy, West China Hospital of Sichuan University, Chengdu, Sichuan, China.

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February 2020

Next-Generation Sequencing in Human Genetic Studies: Genome Technologies and Applications to Human Genetic Studies.

Hum Hered 2018 9;83(3):105-106. Epub 2019 Jan 9.

Department of Epidemiology, Human Genetics & Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.

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June 2019

High risk Epstein-Barr virus variants characterized by distinct polymorphisms in the EBER locus are strongly associated with nasopharyngeal carcinoma.

Int J Cancer 2019 06 7;144(12):3031-3042. Epub 2019 Jan 7.

Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong SAR, China.

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June 2019

HIV-1 Tat and methamphetamine co-induced oxidative cellular injury is mitigated by N-acetylcysteine amide (NACA) through rectifying mTOR signaling.

Toxicol Lett 2018 Dec 24;299:159-171. Epub 2018 Sep 24.

CUHK-SDU Joint Laboratory on Reproductive Genetics, School of Biomedical Sciences, The Chinese University of Hong Kong, Shatin, NT, Hong Kong, China. Electronic address:

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December 2018

Chemotherapy-Induced Cognitive Impairment Is Associated with Cytokine Dysregulation and Disruptions in Neuroplasticity.

Mol Neurobiol 2019 Mar 14;56(3):2234-2243. Epub 2018 Jul 14.

School of Chinese Medicine, LKS Faculty of Medicine, The University of Hong Kong, 10 Sassoon Road, Pokfulam, Hong Kong, China.

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March 2019

Tractography-based classification in distinguishing patients with first-episode schizophrenia from healthy individuals.

Prog Neuropsychopharmacol Biol Psychiatry 2019 01 20;88:66-73. Epub 2018 Jun 20.

Castle Peak Hospital, Hong Kong, China; Neuropsychology and Applied Cognitive Neuroscience Laboratory, CAS Key Laboratory of Mental Health, Institute of Psychology, Chinese Academy of Sciences, Beijing, China. Electronic address:

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January 2019

Rare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosis.

Neurol Genet 2018 Jun 11;4(3):e245. Epub 2018 Jun 11.

Centre for Genomic Sciences and Department of Psychiatry (J.K.L.W., H.G., L.B., P.C.S., S.S.C.), Li Ka Shing Faculty of Medicine, The University of Hong Kong; Department of Medicine and Therapeutics (M.K., P.K.), The Chinese University of Hong Kong; Department of Medicine (P.W.N.), United Christian Hospital; Department of Medicine (C.H.T.L.), Queen Elizabeth Hospital, Hong Kong, China; Departments of Medicine and Neurology (P.K.), The University of Melbourne, Royal Melbourne Hospital, Australia; Department of Epidemiology and Preventive Medicine (S.S.C.) and Department of Anatomy and Anthropology (S.S.C.), Sackler Faculty of Medicine, Tel Aviv University, Israel; and The State Key Laboratory of Brain and Cognitive Sciences (P.C.S., S.S.C.).

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June 2018

GWAS4D: multidimensional analysis of context-specific regulatory variant for human complex diseases and traits.

Nucleic Acids Res 2018 07;46(W1):W114-W120

Department of Pharmacology, Collaborative Innovation Center of Tianjin for Medical Epigenetics, Tianjin Key Laboratory of Medical Epigenetics, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.

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July 2018

A powerful approach reveals numerous expression quantitative trait haplotypes in multiple tissues.

Bioinformatics 2018 09;34(18):3145-3150

Department of Psychiatry, The Centre for Genomic Sciences, State Key Laboratory of Brain and Cognitive Sciences, The University of Hong Kong, Pokfulam, Hong Kong, China.

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September 2018

Early onset of disc degeneration in SM/J mice is associated with changes in ion transport systems and fibrotic events.

Matrix Biol 2018 09 9;70:123-139. Epub 2018 Apr 9.

School of Biomedical Sciences, The University of Hong Kong, Pokfulam, Hong Kong SAR, China; The University of Hong Kong - Shenzhen Institute of Research and Innovation (HKU-SIRI), Hi-Tech Industrial Park, Nanshan, Shenzhen, China. Electronic address:

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September 2018

Long-term effects of discontinuation from antipsychotic maintenance following first-episode schizophrenia and related disorders: a 10 year follow-up of a randomised, double-blind trial.

Lancet Psychiatry 2018 05 15;5(5):432-442. Epub 2018 Mar 15.

Department of Psychiatry, University of Hong Kong, Hong Kong Special Administrative Region, China; State Key Laboratory of Brain and Cognitive Sciences, University of Hong Kong, Hong Kong Special Administrative Region, China.

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May 2018

Multifactorial disease risk calculator: Risk prediction for multifactorial disease pedigrees.

Genet Epidemiol 2018 03 26;42(2):130-133. Epub 2017 Nov 26.

Department of Psychiatry and Centre for Genomic Sciences, University of Hong Kong, Hong Kong SAR.

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March 2018

Corrigendum: Linnorm: improved statistical analysis for single cell RNA-seq expression data.

Nucleic Acids Res 2017 12;45(22):13097

Department of Health Sciences Research and Center for Individualized Medicine, Mayo Clinic, Scottsdale, AZ 85259, USA.

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December 2017

Genetic overlap between epilepsy and schizophrenia: Evidence from cross phenotype analysis in Hong Kong Chinese population.

Am J Med Genet B Neuropsychiatr Genet 2018 Jan 17;177(1):86-92. Epub 2017 Nov 17.

Center for Genomic Sciences, The University of Hong Kong, Hong Kong, SAR, China.

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January 2018

Actionable secondary findings from whole-genome sequencing of 954 East Asians.

Hum Genet 2018 Jan 11;137(1):31-37. Epub 2017 Nov 11.

Division of Paediatric Surgery, Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.

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January 2018

Etiology of developmental spinal stenosis: A genome-wide association study.

J Orthop Res 2018 04 17;36(4):1262-1268. Epub 2017 Oct 17.

Department of Orthopaedics and Traumatology, The University of Hong Kong, Pokfulam, Hong Kong SAR, China.

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April 2018

Linnorm: improved statistical analysis for single cell RNA-seq expression data.

Nucleic Acids Res 2017 Dec;45(22):e179

Department of Health Sciences Research and Center for Individualized Medicine, Mayo Clinic, Scottsdale, AZ 85259, USA.

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December 2017

Sharing of Genes and Pathways Across Complex Phenotypes: A Multilevel Genome-Wide Analysis.

Genetics 2017 07 11;206(3):1601-1609. Epub 2017 May 11.

Center for Genomic Sciences, University of Hong Kong, Hong Kong SAR, China

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July 2017

Polygenic scores via penalized regression on summary statistics.

Genet Epidemiol 2017 09 8;41(6):469-480. Epub 2017 May 8.

Centre for Genomic Sciences, University of Hong Kong, Hong Kong.

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September 2017

Exploring genetic associations with ceRNA regulation in the human genome.

Nucleic Acids Res 2017 Jun;45(10):5653-5665

Department of Biostatistics and Computational Biology, Dana-Farber Cancer Institute and Harvard T.H.Chan School of Public Health, Boston, MA 02215, USA.

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June 2017

Selecting cases and controls for DNA sequencing studies using family histories of disease.

Stat Med 2017 06 21;36(13):2081-2099. Epub 2017 Feb 21.

Interdisciplinary Program of Bioinformatics, Seoul National University, Seoul, Korea.

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June 2017

Improving polygenic risk prediction from summary statistics by an empirical Bayes approach.

Sci Rep 2017 02 1;7:41262. Epub 2017 Feb 1.

Department of Psychiatry, University of Hong Kong, PokFuLam, Hong Kong.

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February 2017

founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis.

Mol Genet Genomic Med 2017 Jan 13;5(1):40-49. Epub 2016 Nov 13.

Department of Paediatrics and Adolescent MedicineLKS Faculty of MedicineThe University of Hong KongHong KongHong Kong; Department of Paediatrics and Adolescent MedicineQueen Mary HospitalHong KongHong Kong; Department of Paediatrics and Adolescent MedicineThe Duchess of Kent Children's Hospital at Sandy BayHong Kong.

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January 2017

Exploring the predictive power of polygenic scores derived from genome-wide association studies: a study of 10 complex traits.

Bioinformatics 2017 03;33(6):886-892

Department of Psychiatry, University of Hong Kong, PokFuLam, Hong Kong.

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March 2017

Sacral agenesis: a pilot whole exome sequencing and copy number study.

BMC Med Genet 2016 Dec 22;17(1):98. Epub 2016 Dec 22.

Department of Psychiatry, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR.

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December 2016

Amelioration of X-Linked Related Autophagy Failure in Danon Disease With DNA Methylation Inhibitor.

Circulation 2016 Nov 27;134(18):1373-1389. Epub 2016 Sep 27.

From Cardiology Division, Department of Medicine (K.-M.N., J.C.Y.H., Y.-K.L., W.-H.L., K.-W.A., Y.-M.L., L.-Y.W., C.-W.S., H.-F.T.) and Department of Psychiatry (A.W.B., S.-W.C., P.C.S., A.C.), Queen Mary Hospital, Research Center of Heart, Brain, Hormone and Healthy Aging, Li Ka Shing Faculty of Medicine (K.-M.N, C.W.-S., H.-F.T.), Hong Kong-Guangdong Joint Laboratory on Stem Cell and Regenerative Medicine (M.A.E., H.-F.T.), Centre for Genomic Sciences, Li Ka Shing Faculty of Medicine (P.C.S.), State Key Laboratory for Cognitive and Brain Sciences, Li Ka Shing Faculty of Medicine (P.C.S.), and Shenzhen Institutes of Research and Innovation (H.-F.T.), University of Hong Kong, Hong Kong SAR, China; Stem Cell Disease Models, A*STAR Institute of Medical Biology, Singapore (P.Y.M.); MRC Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College London, London, UK (A.W.B.); and Key Laboratory of Regenerative Biology of the Chinese Academy of Sciences and Guangdong Provincial Key Laboratory of Stem Cells and Regenerative Medicine, South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Guangzhou, China (M.A.E.).

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November 2016

A fast and powerful W-test for pairwise epistasis testing.

Nucleic Acids Res 2016 12 26;44(21):10526. Epub 2016 Sep 26.

Division of Biostatistics and Centre for Clinical Research and Biostatistics, JC School of Public Health and Primary Care, the Chinese University of Hong Kong, Shatin, N.T., Hong Kong SAR, China.

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December 2016

Interplay between Schizophrenia Polygenic Risk Score and Childhood Adversity in First-Presentation Psychotic Disorder: A Pilot Study.

PLoS One 2016 20;11(9):e0163319. Epub 2016 Sep 20.

MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, United Kingdom.

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August 2017

A single low dose of valproic acid in late prenatal life alters postnatal behavior and glutamic acid decarboxylase levels in the mouse.

Behav Brain Res 2016 11 4;314:190-8. Epub 2016 Aug 4.

Department of Forensic and Neurodevelopmental Science, The Institute of Psychiatry, Psychology and Neuroscience, King's College London, UK.

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November 2016

Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes.

Bioinformatics 2016 10 26;32(20):3065-3071. Epub 2016 Jun 26.

Department of Psychiatry Centre for Genomics Science, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong.

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October 2016

Predicting regulatory variants with composite statistic.

Bioinformatics 2016 09 6;32(18):2729-36. Epub 2016 Jun 6.

Centre for Genomic Sciences, Department of Health Sciences Research, Center for Individualized Medicine, Mayo Clinic, Scottsdale, AZ 85259, USA and Department of Biomedical Informatics, Arizona State University, Scottsdale, AZ 85259, USA.

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September 2016

Two subtypes of intervertebral disc degeneration distinguished by large-scale population-based study.

Spine J 2016 09 5;16(9):1079-89. Epub 2016 May 5.

Centre for Genomic Sciences, The University of Hong Kong, 5 Sassoon Rd, Pokfulam, Hong Kong SAR, China; Department of Psychiatry, The University of Hong Kong, Queen Mary Hospital, 102 Pokfulam Road, Pokfulam, Hong Kong SAR, China. Electronic address:

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September 2016

A fast and powerful W-test for pairwise epistasis testing.

Nucleic Acids Res 2016 07 25;44(12):e115. Epub 2016 Apr 25.

Division of Biostatistics and Centre for Clinical Research and Biostatistics, JC School of Public Health and Primary Care, the Chinese University of Hong Kong, Shatin, N.T., Hong Kong SAR, China CUHK Shenzhen Research Institute, Shenzhen, China.

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July 2016

Whole-exome sequencing identifies MST1R as a genetic susceptibility gene in nasopharyngeal carcinoma.

Proc Natl Acad Sci U S A 2016 Mar 7;113(12):3317-22. Epub 2016 Mar 7.

Department of Clinical Oncology, University of Hong Kong, Hong Kong (Special Administrative Region), People's Republic of China; Center for Nasopharyngeal Carcinoma Research, University of Hong Kong, Hong Kong (Special Administrative Region), People's Republic of China;

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March 2016

Tspyl2 Loss-of-Function Causes Neurodevelopmental Brain and Behavior Abnormalities in Mice.

Behav Genet 2016 07 29;46(4):529-37. Epub 2016 Jan 29.

Department of Forensic and Neurodevelopmental Science, Institute of Psychiatry, Psychology and Neuroscience, King's College, London, UK.

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July 2016

Longitudinal heritability of childhood aggression.

Am J Med Genet B Neuropsychiatr Genet 2016 07 19;171(5):697-707. Epub 2016 Jan 19.

Department of Biological Psychology, Netherlands Twin Register, VU University Amsterdam, The Netherlands.

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July 2016

Local True Discovery Rate Weighted Polygenic Scores Using GWAS Summary Data.

Behav Genet 2016 07 9;46(4):573-82. Epub 2016 Jan 9.

Centre for Genomic Sciences, University of Hong Kong, 5 Sassoon Road, Hong Kong, China.

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July 2016