Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 434


Mutations in Hnrnpa1 cause congenital heart defects.

Yu Z, Tang PL, Wang J, Bao S, Shieh JT, Leung AW, Zhang Z, Gao F, Wong SY, Hui AL, Gao Y, Dung N, Zhang ZG, Fan Y, Zhou X, Zhang Y, Wong DS, Sham PC, Azhar A, Kwok PY, Tam PP, Lian Q, Cheah KS, Wang B, Song YQ.

JCI Insight. 2018 Jan 25;3(2). pii: 98555. doi: 10.1172/jci.insight.98555. [Epub ahead of print]


Genetically deprived vitamin D exposure predisposes to atrial fibrillation.

Chan YH, Yiu KH, Hai JJ, Chan PH, Lam TH, Cowling BJ, Sham PC, Lau CP, Lam KS, Siu CW, Tse HF.

Europace. 2017 Dec 1;19(suppl_4):iv25-iv31. doi: 10.1093/europace/eux312.


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

Campbell DD, Li Y, Sham PC.

Genet Epidemiol. 2018 Mar;42(2):130-133. doi: 10.1002/gepi.22101. Epub 2017 Nov 26.


De novo mutations in Caudal Type Homeo Box transcription Factor 2 (CDX2) in patients with persistent cloaca.

Hsu JSJ, So M, Tang CSM, Karim A, Porsch RM, Wong C, Yu M, Yeung F, Xia H, Zhang R, Cherny SS, Chung PHY, Wong KKY, Sham PC, Ngo ND, Li M, Tam PKH, Lui VCH, Garcia-Barcelo MM.

Hum Mol Genet. 2018 Jan 15;27(2):351-358. doi: 10.1093/hmg/ddx406.


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

Yip SH, Wang P, Kocher JA, Sham PC, Wang J.

Nucleic Acids Res. 2017 Dec 15;45(22):13097. doi: 10.1093/nar/gkx1189. No abstract available.


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

Gui H, Li M, Sham PC, Baum L; International League Against Epilepsy Consortium on Complex Epilepsies, Kwan P, Cherny SS.

Am J Med Genet B Neuropsychiatr Genet. 2018 Jan;177(1):86-92. doi: 10.1002/ajmg.b.32607. Epub 2017 Nov 17.


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

Tang CS, Dattani S, So MT, Cherny SS, Tam PKH, Sham PC, Garcia-Barcelo MM.

Hum Genet. 2018 Jan;137(1):31-37. doi: 10.1007/s00439-017-1852-1. Epub 2017 Nov 11.


Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Lu X, Peloso GM, Liu DJ, Wu Y, Zhang H, Zhou W, Li J, Tang CS, Dorajoo R, Li H, Long J, Guo X, Xu M, Spracklen CN, Chen Y, Liu X, Zhang Y, Khor CC, Liu J, Sun L, Wang L, Gao YT, Hu Y, Yu K, Wang Y, Cheung CYY, Wang F, Huang J, Fan Q, Cai Q, Chen S, Shi J, Yang X, Zhao W, Sheu WH, Cherny SS, He M, Feranil AB, Adair LS, Gordon-Larsen P, Du S, Varma R, Chen YI, Shu XO, Lam KSL, Wong TY, Ganesh SK, Mo Z, Hveem K, Fritsche LG, Nielsen JB, Tse HF, Huo Y, Cheng CY, Chen YE, Zheng W, Tai ES, Gao W, Lin X, Huang W, Abecasis G; GLGC Consortium, Kathiresan S, Mohlke KL, Wu T, Sham PC, Gu D, Willer CJ.

Nat Genet. 2017 Dec;49(12):1722-1730. doi: 10.1038/ng.3978. Epub 2017 Oct 30.


Dysfunction of Myosin Light-Chain 4 (MYL4) Leads to Heritable Atrial Cardiomyopathy With Electrical, Contractile, and Structural Components: Evidence From Genetically-Engineered Rats.

Peng W, Li M, Li H, Tang K, Zhuang J, Zhang J, Xiao J, Jiang H, Li D, Yu Y, Sham PC, Nattel S, Xu Y.

J Am Heart Assoc. 2017 Oct 28;6(11). pii: e007030. doi: 10.1161/JAHA.117.007030.


The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next generation sequencing studies: a review.

Pang SY, Teo KC, Hsu JS, Chang RS, Li M, Sham PC, Ho SL.

Transl Neurodegener. 2017 Oct 6;6:27. doi: 10.1186/s40035-017-0098-0. eCollection 2017. Review.


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

Yip SH, Wang P, Kocher JA, Sham PC, Wang J.

Nucleic Acids Res. 2017 Dec 15;45(22):e179. doi: 10.1093/nar/gkx828.


PacBio But Not Illumina Technology Can Achieve Fast, Accurate and Complete Closure of the High GC, Complex Burkholderia pseudomallei Two-Chromosome Genome.

Teng JLL, Yeung ML, Chan E, Jia L, Lin CH, Huang Y, Tse H, Wong SSY, Sham PC, Lau SKP, Woo PCY.

Front Microbiol. 2017 Aug 2;8:1448. doi: 10.3389/fmicb.2017.01448. eCollection 2017.


Analysis of genome-wide association data highlights candidates for drug repositioning in psychiatry.

So HC, Chau CK, Chiu WT, Ho KS, Lo CP, Yim SH, Sham PC.

Nat Neurosci. 2017 Oct;20(10):1342-1349. doi: 10.1038/nn.4618. Epub 2017 Aug 14.


In vivo gamma-aminobutyric acid and glutamate levels in people with first-episode schizophrenia: A proton magnetic resonance spectroscopy study.

Chiu PW, Lui SSY, Hung KSY, Chan RCK, Chan Q, Sham PC, Cheung EFC, Mak HKF.

Schizophr Res. 2017 Jul 24. pii: S0920-9964(17)30422-X. doi: 10.1016/j.schres.2017.07.021. [Epub ahead of print]


Rare coding variants in MAPK7 predispose to adolescent idiopathic scoliosis.

Gao W, Chen C, Zhou T, Yang S, Gao B, Zhou H, Lian C, Wu Z, Qiu X, Yang X, Alattar E, Liu W, Su D, Sun S, Chen Y, Cheung KMC, Song Y, Luk KKD, Chan D, Sham PC, Xing C, Khor CC, Liu G, Yang J, Deng Y, Hao D, Huang D, Li QZ, Xu C, Su P.

Hum Mutat. 2017 Nov;38(11):1500-1510. doi: 10.1002/humu.23296. Epub 2017 Jul 25.


Burden of rare variants in ALS genes influences survival in familial and sporadic ALS.

Pang SY, Hsu JS, Teo KC, Li Y, Kung MHW, Cheah KSE, Chan D, Cheung KMC, Li M, Sham PC, Ho SL.

Neurobiol Aging. 2017 Oct;58:238.e9-238.e15. doi: 10.1016/j.neurobiolaging.2017.06.007. Epub 2017 Jun 20.


Lifetime Prevalence and Correlates of Schizophrenia-Spectrum, Affective, and Other Non-affective Psychotic Disorders in the Chinese Adult Population.

Chang WC, Wong CSM, Chen EYH, Lam LCW, Chan WC, Ng RMK, Hung SF, Cheung EFC, Sham PC, Chiu HFK, Lam M, Lee EHM, Chiang TP, Chan LK, Lau GKW, Lee ATC, Leung GTY, Leung JSY, Lau JTF, van Os J, Lewis G, Bebbington P.

Schizophr Bull. 2017 Oct 21;43(6):1280-1290. doi: 10.1093/schbul/sbx056.


Chronic Ketamine Exposure Causes White Matter Microstructural Abnormalities in Adolescent Cynomolgus Monkeys.

Li Q, Shi L, Lu G, Yu HL, Yeung FK, Wong NK, Sun L, Liu K, Yew D, Pan F, Wang DF, Sham PC.

Front Neurosci. 2017 May 19;11:285. doi: 10.3389/fnins.2017.00285. eCollection 2017.


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

Gui H, Kwan JS, Sham PC, Cherny SS, Li M.

Genetics. 2017 Jul;206(3):1601-1609. doi: 10.1534/genetics.116.198150. Epub 2017 May 11.


mTCTScan: a comprehensive platform for annotation and prioritization of mutations affecting drug sensitivity in cancers.

Li MJ, Yao H, Huang D, Liu H, Liu Z, Xu H, Qin Y, Prinz J, Xia W, Wang P, Yan B, Tran NL, Kocher JP, Sham PC, Wang J.

Nucleic Acids Res. 2017 Jul 3;45(W1):W215-W221. doi: 10.1093/nar/gkx400.


Polygenic scores via penalized regression on summary statistics.

Mak TSH, Porsch RM, Choi SW, Zhou X, Sham PC.

Genet Epidemiol. 2017 Sep;41(6):469-480. doi: 10.1002/gepi.22050. Epub 2017 May 8.


International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H.

Am J Hum Genet. 2017 May 4;100(5):695-705. doi: 10.1016/j.ajhg.2017.04.003.


Exploring genetic associations with ceRNA regulation in the human genome.

Li MJ, Zhang J, Liang Q, Xuan C, Wu J, Jiang P, Li W, Zhu Y, Wang P, Fernandez D, Shen Y, Chen Y, Kocher JA, Yu Y, Sham PC, Wang J, Liu JS, Liu XS.

Nucleic Acids Res. 2017 Jun 2;45(10):5653-5665. doi: 10.1093/nar/gkx331.


Are psychiatric comorbidities and associated cognitive functions related to treatment response to methylphenidate in boys with attention-deficit/hyperactivity disorder?

Chan MH, Leung PW, Ho TP, Hung SF, Lee CC, Tang CP, Cheung KC, Ching FY, Chan FH, Chen LH, Garcia-Barcelo M, Sham PC.

Neuropsychiatr Dis Treat. 2017 Apr 11;13:1071-1080. doi: 10.2147/NDT.S128086. eCollection 2017.


Patient complexity and genotype-phenotype correlations in biliary atresia: a cross-sectional analysis.

Cheng G, Chung PH, Chan EK, So MT, Sham PC, Cherny SS, Tam PK, Garcia-Barceló MM.

BMC Med Genomics. 2017 Apr 17;10(1):22. doi: 10.1186/s12920-017-0259-0.


SNP-based HLA allele tagging, imputation and association with antiepileptic drug-induced cutaneous reactions in Hong Kong Han Chinese.

Gui H, Kwok M, Baum L, Sham PC, Kwan P, Cherny SS.

Pharmacogenomics J. 2017 Apr 11. doi: 10.1038/tpj.2017.11. [Epub ahead of print]


Validation of the Chinese Version of the Revised Clinical Interview Schedule: Findings from Hong Kong Mental Morbidity Survey.

Chan WC, Wong CS, Chen EY, Ng RM, Hung SF, Cheung EF, Sham PC, Chiu HF, Lam M, Chang WC, Lee EH, Chiang TP, Lau JT, van Os J, Lewis G, Bebbington P, Lam LC.

East Asian Arch Psychiatry. 2017 Mar;27(1):3-10.


An Exome-Chip Association Analysis in Chinese Subjects Reveals a Functional Missense Variant of GCKR That Regulates FGF21 Levels.

Cheung CYY, Tang CS, Xu A, Lee CH, Au KW, Xu L, Fong CHY, Kwok KHM, Chow WS, Woo YC, Yuen MMA, Cherny SS, Hai J, Cheung BMY, Tan KCB, Lam TH, Tse HF, Sham PC, Lam KSL.

Diabetes. 2017 Jun;66(6):1723-1728. doi: 10.2337/db16-1384. Epub 2017 Apr 6.


Alterations in Gastric Microbiota After H. Pylori Eradication and in Different Histological Stages of Gastric Carcinogenesis.

Li TH, Qin Y, Sham PC, Lau KS, Chu KM, Leung WK.

Sci Rep. 2017 Mar 21;7:44935. doi: 10.1038/srep44935.


cepip: context-dependent epigenomic weighting for prioritization of regulatory variants and disease-associated genes.

Li MJ, Li M, Liu Z, Yan B, Pan Z, Huang D, Liang Q, Ying D, Xu F, Yao H, Wang P, Kocher JA, Xia Z, Sham PC, Liu JS, Wang J.

Genome Biol. 2017 Mar 16;18(1):52. doi: 10.1186/s13059-017-1177-3.


Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.

Gui H, Schriemer D, Cheng WW, Chauhan RK, Antiňolo G, Berrios C, Bleda M, Brooks AS, Brouwer RW, Burns AJ, Cherny SS, Dopazo J, Eggen BJ, Griseri P, Jalloh B, Le TL, Lui VC, Luzón-Toro B, Matera I, Ngan ES, Pelet A, Ruiz-Ferrer M, Sham PC, Shepherd IT, So MT, Sribudiani Y, Tang CS, van den Hout MC, van der Linde HC, van Ham TJ, van IJcken WF, Verheij JB, Amiel J, Borrego S, Ceccherini I, Chakravarti A, Lyonnet S, Tam PK, Garcia-Barceló MM, Hofstra RM.

Genome Biol. 2017 Mar 8;18(1):48. doi: 10.1186/s13059-017-1174-6.


Rare damaging variants in DNA repair and cell cycle pathways are associated with hippocampal and cognitive dysfunction: a combined genetic imaging study in first-episode treatment-naive patients with schizophrenia.

Yang Z, Li M, Hu X, Xiang B, Deng W, Wang Q, Wang Y, Zhao L, Ma X, Sham PC, Northoff G, Li T.

Transl Psychiatry. 2017 Feb 14;7(2):e1028. doi: 10.1038/tp.2016.291.


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

So HC, Sham PC.

Sci Rep. 2017 Feb 1;7:41262. doi: 10.1038/srep41262.


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

Leung GK, Ying D, Mak CC, Chen XY, Xu W, Yeung KS, Wong WL, Chu YW, Mok GT, Chau CS, McLuskey J, Ong WP, Leong HY, Chan KY, Yang W, Chen JH, Li AM, Sham PC, Lau YL, Chung BH, Lee SL.

Mol Genet Genomic Med. 2016 Nov 13;5(1):40-49. doi: 10.1002/mgg3.258. eCollection 2017 Jan.


Robust and rapid algorithms facilitate large-scale whole genome sequencing downstream analysis in an integrative framework.

Li M, Li J, Li MJ, Pan Z, Hsu JS, Liu DJ, Zhan X, Wang J, Song Y, Sham PC.

Nucleic Acids Res. 2017 May 19;45(9):e75. doi: 10.1093/nar/gkx019.


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

So HC, Sham PC.

Bioinformatics. 2017 Mar 15;33(6):886-892. doi: 10.1093/bioinformatics/btw745.


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

Porsch RM, Merello E, De Marco P, Cheng G, Rodriguez L, So M, Sham PC, Tam PK, Capra V, Cherny SS, Garcia-Barcelo MM, Campbell DD.

BMC Med Genet. 2016 Dec 22;17(1):98. doi: 10.1186/s12881-016-0359-2.


Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes.

Wong JK, Campbell D, Ngo ND, Yeung F, Cheng G, Tang CS, Chung PH, Tran NS, So MT, Cherny SS, Sham PC, Tam PK, Garcia-Barcelo MM.

BMC Med Genomics. 2016 Dec 12;9(1):75.


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

Ng KM, Mok PY, Butler AW, Ho JC, Choi SW, Lee YK, Lai WH, Au KW, Lau YM, Wong LY, Esteban MA, Siu CW, Sham PC, Colman A, Tse HF.

Circulation. 2016 Nov 1;134(18):1373-1389. Epub 2016 Sep 27.


Impact of Genetic Loci Identified in Genome-Wide Association Studies on Diabetic Retinopathy in Chinese Patients With Type 2 Diabetes.

Cheung CY, Hui EY, Lee CH, Kwok KH, Gangwani RA, Li KK, Chan JC, Woo YC, Chow WS, Yuen MM, Wong RL, Fong CH, Xu A, Wong DS, Sham PC, Lam KS.

Invest Ophthalmol Vis Sci. 2016 Oct 1;57(13):5518-5524. doi: 10.1167/iovs.16-20094.


Prevalence of anxiety disorders in community dwelling older adults in Hong Kong.

Fung AW, Chan WC, Wong CS, Chen EY, Ng RM, Lee EH, Chang WC, Hung SF, Cheung EF, Sham PC, Chiu HF, Lam M, Chiang TP, van Os J, Lau JT, Lewis G, Bebbington P, Lam LC; Hong Kong Mental Morbidity Survey Team.

Int Psychogeriatr. 2017 Feb;29(2):259-267. doi: 10.1017/S1041610216001617. Epub 2016 Oct 21.


Exome-chip association analysis reveals an Asian-specific missense variant in PAX4 associated with type 2 diabetes in Chinese individuals.

Cheung CY, Tang CS, Xu A, Lee CH, Au KW, Xu L, Fong CH, Kwok KH, Chow WS, Woo YC, Yuen MM, Hai JS, Jin YL, Cheung BM, Tan KC, Cherny SS, Zhu F, Zhu T, Thomas GN, Cheng KK, Jiang CQ, Lam TH, Tse HF, Sham PC, Lam KS.

Diabetologia. 2017 Jan;60(1):107-115. Epub 2016 Oct 15.


Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

Tang CS, Gui H, Kapoor A, Kim JH, Luzón-Toro B, Pelet A, Burzynski G, Lantieri F, So MT, Berrios C, Shin HD, Fernández RM, Le TL, Verheij JB, Matera I, Cherny SS, Nandakumar P, Cheong HS, Antiñolo G, Amiel J, Seo JM, Kim DY, Oh JT, Lyonnet S, Borrego S, Ceccherini I, Hofstra RM, Chakravarti A, Kim HY, Sham PC, Tam PK, Garcia-Barceló MM.

Hum Mol Genet. 2016 Dec 1;25(23):5265-5275. doi: 10.1093/hmg/ddw333.


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

Wang MH, Sun R, Guo J, Weng H, Lee J, Hu I, Sham PC, Zee BC.

Nucleic Acids Res. 2016 Dec 1;44(21):10526. Epub 2016 Sep 26. No abstract available.


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

Trotta A, Iyegbe C, Di Forti M, Sham PC, Campbell DD, Cherny SS, Mondelli V, Aitchison KJ, Murray RM, Vassos E, Fisher HL.

PLoS One. 2016 Sep 20;11(9):e0163319. doi: 10.1371/journal.pone.0163319. eCollection 2016.


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

Wei R, Li Q, Lam S, Leung J, Cheung C, Zhang X, Sham PC, Chua SE, McAlonan GM.

Behav Brain Res. 2016 Nov 1;314:190-8. doi: 10.1016/j.bbr.2016.08.006. Epub 2016 Aug 4.


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

Hsu JS, Kwan JS, Pan Z, Garcia-Barcelo MM, Sham PC, Li M.

Bioinformatics. 2016 Oct 15;32(20):3065-3071. Epub 2016 Jun 26.


Predicting regulatory variants with composite statistic.

Li MJ, Pan Z, Liu Z, Wu J, Wang P, Zhu Y, Xu F, Xia Z, Sham PC, Kocher JP, Li M, Liu JS, Wang J.

Bioinformatics. 2016 Sep 15;32(18):2729-36. doi: 10.1093/bioinformatics/btw288. Epub 2016 Jun 6.


CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens.

Wang B, Ji T, Zhou X, Wang J, Wang X, Wang J, Zhu D, Zhang X, Sham PC, Zhang X, Ma X, Jiang Y.

Sci Rep. 2016 Jun 3;6:25954. doi: 10.1038/srep25954.


Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy.

Chen H, Zhou X, Wang J, Wang X, Liu L, Wu S, Li T, Chen S, Yang J, Sham PC, Zhu G, Zhang X, Wang B.

Sci Rep. 2016 May 23;6:26362. doi: 10.1038/srep26362.

Supplemental Content

Support Center