Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 36

1.

A Novel Splice-Site Mutation in ALS2 Establishes the Diagnosis of Juvenile Amyotrophic Lateral Sclerosis in a Family with Early Onset Anarthria and Generalized Dystonias.

Siddiqi S, Foo JN, Vu A, Azim S, Silver DL, Mansoor A, Tay SK, Abbasi S, Hashmi AH, Janjua J, Khalid S, Tai ES, Yeo GW, Khor CC.

PLoS One. 2014 Dec 4;9(12):e113258. doi: 10.1371/journal.pone.0113258. eCollection 2014.

PMID:
25474699
[PubMed - in process]
Free PMC Article
2.

Variation at HLA-DRB1 is associated with resistance to enteric fever.

Dunstan SJ, Hue NT, Han B, Li Z, Tram TT, Sim KS, Parry CM, Chinh NT, Vinh H, Lan NP, Thieu NT, Vinh PV, Koirala S, Dongol S, Arjyal A, Karkey A, Shilpakar O, Dolecek C, Foo JN, Phuong le T, Lanh MN, Do T, Aung T, Hon do N, Teo YY, Hibberd ML, Anders KL, Okada Y, Raychaudhuri S, Simmons CP, Baker S, de Bakker PI, Basnyat B, Hien TT, Farrar JJ, Khor CC.

Nat Genet. 2014 Dec;46(12):1333-6. doi: 10.1038/ng.3143. Epub 2014 Nov 10.

PMID:
25383971
[PubMed - in process]
3.

A comprehensive evaluation of the role of genetic variation in follicular lymphoma survival.

Baecklund F, Foo JN, Bracci P, Darabi H, Karlsson R, Hjalgrim H, Rosenquist R, Adami HO, Glimelius B, Melbye M, Conde L, Liu J, Humphreys K, Skibola CF, Smedby KE.

BMC Med Genet. 2014 Oct 8;15(1):113. [Epub ahead of print]

PMID:
25294155
[PubMed - as supplied by publisher]
Free Article
4.

Genome-wide association study identifies five susceptibility loci for follicular lymphoma outside the HLA region.

Skibola CF, Berndt SI, Vijai J, Conde L, Wang Z, Yeager M, de Bakker PI, Birmann BM, Vajdic CM, Foo JN, Bracci PM, Vermeulen RC, Slager SL, de Sanjose S, Wang SS, Linet MS, Salles G, Lan Q, Severi G, Hjalgrim H, Lightfoot T, Melbye M, Gu J, Ghesquières H, Link BK, Morton LM, Holly EA, Smith A, Tinker LF, Teras LR, Kricker A, Becker N, Purdue MP, Spinelli JJ, Zhang Y, Giles GG, Vineis P, Monnereau A, Bertrand KA, Albanes D, Zeleniuch-Jacquotte A, Gabbas A, Chung CC, Burdett L, Hutchinson A, Lawrence C, Montalvan R, Liang L, Huang J, Ma B, Liu J, Adami HO, Glimelius B, Ye Y, Nowakowski GS, Dogan A, Thompson CA, Habermann TM, Novak AJ, Liebow M, Witzig TE, Weiner GJ, Schenk M, Hartge P, De Roos AJ, Cozen W, Zhi D, Akers NK, Riby J, Smith MT, Lacher M, Villano DJ, Maria A, Roman E, Kane E, Jackson RD, North KE, Diver WR, Turner J, Armstrong BK, Benavente Y, Boffetta P, Brennan P, Foretova L, Maynadie M, Staines A, McKay J, Brooks-Wilson AR, Zheng T, Holford TR, Chamosa S, Kaaks R, Kelly RS, Ohlsson B, Travis RC, Weiderpass E, Clavel J, Giovannucci E, Kraft P, Virtamo J, Mazza P, Cocco P, Ennas MG, Chiu BC, Fraumeni JF Jr, Nieters A, Offit K, Wu X, Cerhan JR, Smedby KE, Chanock SJ, Rothman N.

Am J Hum Genet. 2014 Oct 2;95(4):462-71. doi: 10.1016/j.ajhg.2014.09.004.

PMID:
25279986
[PubMed - indexed for MEDLINE]
5.

2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy.

Li J, Lindström LS, Foo JN, Rafiq S, Schmidt MK, Pharoah PD, Michailidou K, Dennis J, Bolla MK, Wang Q, Van 't Veer LJ, Cornelissen S, Rutgers E, Southey MC, Apicella C, Dite GS, Hopper JL, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Blomqvist C, Muranen TA, Aittomäki K, Lindblom A, Margolin S, Mannermaa A, Kosma VM, Hartikainen JM, Kataja V, Chenevix-Trench G; kConFab Investigators, Phillips KA, McLachlan SA, Lambrechts D, Thienpont B, Smeets A, Wildiers H, Chang-Claude J, Flesch-Janys D, Seibold P, Rudolph A, Giles GG, Baglietto L, Severi G, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Kristensen V, Alnæs GI, Borresen-Dale AL, Nord S, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Andrulis IL, Knight JA, Glendon G, Tchatchou S, Devilee P, Tollenaar R, Seynaeve C, Hooning M, Kriege M, Hollestelle A, van den Ouweland A, Li Y, Hamann U, Torres D, Ulmer HU, Rüdiger T, Shen CY, Hsiung CN, Wu PE, Chen ST, Teo SH, Taib NA, Har Yip C, Fuang Ho G, Matsuo K, Ito H, Iwata H, Tajima K, Kang D, Choi JY, Park SK, Yoo KY, Maishman T, Tapper WJ, Dunning A, Shah M, Luben R, Brown J, Khor CC, Eccles DM, Nevanlinna H, Easton D, Humphreys K, Liu J, Hall P, Czene K.

Nat Commun. 2014 Jun 17;5:4051. doi: 10.1038/ncomms5051.

PMID:
24937182
[PubMed - in process]
Free PMC Article
6.

Insights into the genetic structure and diversity of 38 South Asian Indians from deep whole-genome sequencing.

Wong LP, Lai JK, Saw WY, Ong RT, Cheng AY, Pillai NE, Liu X, Xu W, Chen P, Foo JN, Tan LW, Koo SH, Soong R, Wenk MR, Lim WY, Khor CC, Little P, Chia KS, Teo YY.

PLoS Genet. 2014 May 15;10(5):e1004377. doi: 10.1371/journal.pgen.1004377. eCollection 2014 May.

PMID:
24832686
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Analysis of non-synonymous-coding variants of Parkinson's disease-related pathogenic and susceptibility genes in East Asian populations.

Foo JN, Tan LC, Liany H, Koh TH, Irwan ID, Ng YY, Ahmad-Annuar A, Au WL, Aung T, Chan AY, Chong SA, Chung SJ, Jung Y, Khor CC, Kim J, Lee J, Lim SY, Mok V, Prakash KM, Song K, Tai ES, Vithana EN, Wong TY, Tan EK, Liu J.

Hum Mol Genet. 2014 Jul 15;23(14):3891-7. doi: 10.1093/hmg/ddu086. Epub 2014 Feb 23.

PMID:
24565865
[PubMed - in process]
8.

Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria.

Liu H, Li Y, Hung KK, Wang N, Wang C, Chen X, Sheng D, Fu X, See K, Foo JN, Low H, Liany H, Irwan ID, Liu J, Yang B, Chen M, Yu Y, Yu G, Niu G, You J, Zhou Y, Ma S, Wang T, Yan X, Goh BK, Common JE, Lane BE, Sun Y, Zhou G, Lu X, Wang Z, Tian H, Cao Y, Chen S, Liu Q, Liu J, Zhang F.

PLoS One. 2014 Feb 3;9(2):e87250. doi: 10.1371/journal.pone.0087250. eCollection 2014.

PMID:
24498303
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

HLA-B*13:01 and the dapsone hypersensitivity syndrome.

Zhang FR, Liu H, Irwanto A, Fu XA, Li Y, Yu GQ, Yu YX, Chen MF, Low HQ, Li JH, Bao FF, Foo JN, Bei JX, Jia XM, Liu J, Liany H, Wang N, Niu GY, Wang ZZ, Shi BQ, Tian HQ, Liu HX, Ma SS, Zhou Y, You JB, Yang Q, Wang C, Chu TS, Liu DC, Yu XL, Sun YH, Ning Y, Wei ZH, Chen SL, Chen XC, Zhang ZX, Liu YX, Pulit SL, Wu WB, Zheng ZY, Yang RD, Long H, Liu ZS, Wang JQ, Li M, Zhang LH, Wang H, Wang LM, Xiao P, Li JL, Huang ZM, Huang JX, Li Z, Liu J, Xiong L, Yang J, Wang XD, Yu DB, Lu XM, Zhou GZ, Yan LB, Shen JP, Zhang GC, Zeng YX, de Bakker PI, Chen SM, Liu JJ.

N Engl J Med. 2013 Oct 24;369(17):1620-8. doi: 10.1056/NEJMoa1213096.

PMID:
24152261
[PubMed - indexed for MEDLINE]
Free Article
10.

DNAJ mutations are rare in Chinese Parkinson's disease patients and controls.

Foo JN, Liany H, Tan LC, Au WL, Prakash KM, Liu J, Tan EK.

Neurobiol Aging. 2014 Apr;35(4):935.e1-2. doi: 10.1016/j.neurobiolaging.2013.09.018. Epub 2013 Oct 12.

PMID:
24126164
[PubMed - indexed for MEDLINE]
11.

Rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease.

Foo JN, Liany H, Bei JX, Yu XQ, Liu J, Au WL, Prakash KM, Tan LC, Tan EK.

Neurobiol Aging. 2013 Dec;34(12):2890.e13-5. doi: 10.1016/j.neurobiolaging.2013.06.010. Epub 2013 Jul 18.

PMID:
23871123
[PubMed - indexed for MEDLINE]
12.

Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size.

Li J, Foo JN, Schoof N, Varghese JS, Fernandez-Navarro P, Gierach GL, Quek ST, Hartman M, Nord S, Kristensen VN, Pollán M, Figueroa JD, Thompson DJ, Li Y, Khor CC, Humphreys K, Liu J, Czene K, Hall P.

J Med Genet. 2013 Oct;50(10):666-73. doi: 10.1136/jmedgenet-2013-101708. Epub 2013 Jul 3.

PMID:
23825393
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Identification of a novel risk variant in the FUS gene in essential tremor.

Wu YR, Foo JN, Tan LC, Chen CM, Prakash KM, Chen YC, Bei JX, Au WL, Chang CW, Wong TY, Liu JJ, Zhao Y, Tan EK.

Neurology. 2013 Aug 6;81(6):541-4. doi: 10.1212/WNL.0b013e31829e700c. Epub 2013 Jul 3.

PMID:
23825177
[PubMed - indexed for MEDLINE]
14.

X chromosome-wide association study of follicular lymphoma.

Conde L, Foo JN, Riby J, Liu J, Darabi H, Hjalgrim H, Bracci PM, Smedby KE, Skibola CF.

Br J Haematol. 2013 Sep;162(6):858-62. doi: 10.1111/bjh.12438. Epub 2013 Jun 25. No abstract available.

PMID:
23795672
[PubMed - indexed for MEDLINE]
15.

Coding variants at hexa-allelic amino acid 13 of HLA-DRB1 explain independent SNP associations with follicular lymphoma risk.

Foo JN, Smedby KE, Akers NK, Berglund M, Irwan ID, Jia X, Li Y, Conde L, Darabi H, Bracci PM, Melbye M, Adami HO, Glimelius B, Khor CC, Hjalgrim H, Padyukov L, Humphreys K, Enblad G, Skibola CF, de Bakker PI, Liu J.

Am J Hum Genet. 2013 Jul 11;93(1):167-72. doi: 10.1016/j.ajhg.2013.05.020. Epub 2013 Jun 20.

PMID:
23791106
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Genome-wide association study of B cell non-Hodgkin lymphoma identifies 3q27 as a susceptibility locus in the Chinese population.

Tan DE, Foo JN, Bei JX, Chang J, Peng R, Zheng X, Wei L, Huang Y, Lim WY, Li J, Cui Q, Chew SH, Ebstein RP, Kuperan P, Lim ST, Tao M, Tan SH, Wong A, Wong GC, Tan SY, Ng SB, Zeng YX, Khor CC, Lin D, Seow AL, Jia WH, Liu J.

Nat Genet. 2013 Jul;45(7):804-7. doi: 10.1038/ng.2666. Epub 2013 Jun 9.

PMID:
23749188
[PubMed - indexed for MEDLINE]
17.

Absence of A673T amyloid-β precursor protein variant in Alzheimer's disease and other neurological diseases.

Ting SK, Chong MS, Kandiah N, Hameed S, Tan L, Au WL, Prakash KM, Pavanni R, Lee TS, Foo JN, Bei JX, Yu XQ, Liu JJ, Zhao Y, Lee WL, Tan EK.

Neurobiol Aging. 2013 Oct;34(10):2441.e7-8. doi: 10.1016/j.neurobiolaging.2013.04.012. Epub 2013 May 4.

PMID:
23652020
[PubMed - indexed for MEDLINE]
18.

SLC1A2 variant associated with essential tremor but not Parkinson disease in Chinese subjects.

Tan EK, Foo JN, Tan L, Au WL, Prakash KM, Ng E, Ikram MK, Wong TY, Liu JJ, Zhao Y.

Neurology. 2013 Apr 23;80(17):1618-9. doi: 10.1212/WNL.0b013e31828f1903. Epub 2013 Apr 17.

PMID:
23596072
[PubMed - indexed for MEDLINE]
19.

Clinico-genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations.

Tan LC, Methawasin K, Teng EW, Ng AR, Seah SH, Au WL, Liu JJ, Foo JN, Zhao Y, Tan EK.

Eur J Neurol. 2014 Apr;21(4):674-8. doi: 10.1111/ene.12142. Epub 2013 Mar 29.

PMID:
23551744
[PubMed - indexed for MEDLINE]
20.

Next-generation sequencing diagnostics for neurological diseases/disorders: from a clinical perspective.

Foo JN, Liu J, Tan EK.

Hum Genet. 2013 Jul;132(7):721-34. doi: 10.1007/s00439-013-1287-2. Epub 2013 Mar 23. Review.

PMID:
23525706
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk