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Results: 1 to 20 of 97

1.

Genome-wide DNA methylation identifies trophoblast invasion-related genes: Claudin-4 and Fucosyltransferase IV control mobility via altering matrix metalloproteinase activity.

Hu Y, Blair JD, Yuen RK, Robinson WP, von Dadelszen P.

Mol Hum Reprod. 2015 Feb 19. pii: gav007. [Epub ahead of print]

PMID:
25697377
2.

Whole-genome sequencing of quartet families with autism spectrum disorder.

Yuen RK, Thiruvahindrapuram B, Merico D, Walker S, Tammimies K, Hoang N, Chrysler C, Nalpathamkalam T, Pellecchia G, Liu Y, Gazzellone MJ, D'Abate L, Deneault E, Howe JL, Liu RS, Thompson A, Zarrei M, Uddin M, Marshall CR, Ring RH, Zwaigenbaum L, Ray PN, Weksberg R, Carter MT, Fernandez BA, Roberts W, Szatmari P, Scherer SW.

Nat Med. 2015 Feb;21(2):185-91. doi: 10.1038/nm.3792. Epub 2015 Jan 26.

PMID:
25621899
3.

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ.

Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806. Epub 2014 Dec 18.

PMID:
25525159
4.

Decreased dopamine receptor 1 activity and impaired motor-skill transfer in Dyt1 ΔGAG heterozygous knock-in mice.

Yokoi F, Dang MT, Liu J, Gandre JR, Kwon K, Yuen R, Li Y.

Behav Brain Res. 2015 Feb 15;279:202-10. doi: 10.1016/j.bbr.2014.11.037. Epub 2014 Nov 29.

PMID:
25451552
5.

Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.

Woodbury-Smith M, Paterson AD, Thiruvahindrapduram B, Lionel AC, Marshall CR, Merico D, Fernandez BA, Duku E, Sutcliffe JS, O'Conner I, Chrysler C, Thompson A, Kellam B, Tammimies K, Walker S, Yuen RK, Uddin M, Howe JL, Parlier M, Whitten K, Szatmari P, Vieland VJ, Piven J, Scherer SW.

Hum Genet. 2015 Feb;134(2):191-201. doi: 10.1007/s00439-014-1513-6. Epub 2014 Nov 29.

PMID:
25432440
6.

Synaptic, transcriptional and chromatin genes disrupted in autism.

De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Hill RS, Ionita-Laza J, Jimenz Gonzalez P, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei I, Lei J, Lehtimäki T, Lin CF, Ma'ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnström K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Rüther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Li-San W, Weiss LA, Willsey AJ, Yu TW, Yuen RK; DDD Study; Homozygosity Mapping Collaborative for Autism; UK10K Consortium, Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD.

Nature. 2014 Nov 13;515(7526):209-15. doi: 10.1038/nature13772. Epub 2014 Oct 29.

PMID:
25363760
7.

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.

Uddin M, Tammimies K, Pellecchia G, Alipanahi B, Hu P, Wang Z, Pinto D, Lau L, Nalpathamkalam T, Marshall CR, Blencowe BJ, Frey BJ, Merico D, Yuen RK, Scherer SW.

Nat Genet. 2014 Jul;46(7):742-7. doi: 10.1038/ng.2980. Epub 2014 May 25.

PMID:
24859339
8.

Development of a high-resolution Y-chromosome microarray for improved male infertility diagnosis.

Yuen RK, Merkoulovitch A, MacDonald JR, Vlasschaert M, Lo K, Grober E, Marshall CR, Jarvi KA, Kolomietz E, Scherer SW.

Fertil Steril. 2014 Apr;101(4):1079-1085.e3. doi: 10.1016/j.fertnstert.2013.12.027. Epub 2014 Jan 23.

PMID:
24462061
9.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Lionel AC, Tammimies K, Vaags AK, Rosenfeld JA, Ahn JW, Merico D, Noor A, Runke CK, Pillalamarri VK, Carter MT, Gazzellone MJ, Thiruvahindrapuram B, Fagerberg C, Laulund LW, Pellecchia G, Lamoureux S, Deshpande C, Clayton-Smith J, White AC, Leather S, Trounce J, Melanie Bedford H, Hatchwell E, Eis PS, Yuen RK, Walker S, Uddin M, Geraghty MT, Nikkel SM, Tomiak EM, Fernandez BA, Soreni N, Crosbie J, Arnold PD, Schachar RJ, Roberts W, Paterson AD, So J, Szatmari P, Chrysler C, Woodbury-Smith M, Brian Lowry R, Zwaigenbaum L, Mandyam D, Wei J, Macdonald JR, Howe JL, Nalpathamkalam T, Wang Z, Tolson D, Cobb DS, Wilks TM, Sorensen MJ, Bader PI, An Y, Wu BL, Musumeci SA, Romano C, Postorivo D, Nardone AM, Monica MD, Scarano G, Zoccante L, Novara F, Zuffardi O, Ciccone R, Antona V, Carella M, Zelante L, Cavalli P, Poggiani C, Cavallari U, Argiropoulos B, Chernos J, Brasch-Andersen C, Speevak M, Fichera M, Ogilvie CM, Shen Y, Hodge JC, Talkowski ME, Stavropoulos DJ, Marshall CR, Scherer SW.

Hum Mol Genet. 2014 May 15;23(10):2752-68. doi: 10.1093/hmg/ddt669. Epub 2013 Dec 30.

PMID:
24381304
10.

Influence of g-C3N4 nanosheets on thermal stability and mechanical properties of biopolymer electrolyte nanocomposite films: a novel investigation.

Shi Y, Jiang S, Zhou K, Bao C, Yu B, Qian X, Wang B, Hong N, Wen P, Gui Z, Hu Y, Yuen RK.

ACS Appl Mater Interfaces. 2014 Jan 8;6(1):429-37. doi: 10.1021/am4044932. Epub 2013 Dec 12.

PMID:
24313710
11.

Performance of high-throughput sequencing for the discovery of genetic variation across the complete size spectrum.

Pang AW, Macdonald JR, Yuen RK, Hayes VM, Scherer SW.

G3 (Bethesda). 2014 Jan 10;4(1):63-5. doi: 10.1534/g3.113.008797.

12.

The Database of Genomic Variants: a curated collection of structural variation in the human genome.

MacDonald JR, Ziman R, Yuen RK, Feuk L, Scherer SW.

Nucleic Acids Res. 2014 Jan;42(Database issue):D986-92. doi: 10.1093/nar/gkt958. Epub 2013 Oct 29.

13.

Time-varying effect moderation using the structural nested mean model: estimation using inverse-weighted regression with residuals.

Almirall D, Griffin BA, McCaffrey DF, Ramchand R, Yuen RA, Murphy SA.

Stat Med. 2014 Sep 10;33(20):3466-87. doi: 10.1002/sim.5892. Epub 2013 Jul 19.

14.

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

Jiang YH, Yuen RK, Jin X, Wang M, Chen N, Wu X, Ju J, Mei J, Shi Y, He M, Wang G, Liang J, Wang Z, Cao D, Carter MT, Chrysler C, Drmic IE, Howe JL, Lau L, Marshall CR, Merico D, Nalpathamkalam T, Thiruvahindrapuram B, Thompson A, Uddin M, Walker S, Luo J, Anagnostou E, Zwaigenbaum L, Ring RH, Wang J, Lajonchere C, Wang J, Shih A, Szatmari P, Yang H, Dawson G, Li Y, Scherer SW.

Am J Hum Genet. 2013 Aug 8;93(2):249-63. doi: 10.1016/j.ajhg.2013.06.012. Epub 2013 Jul 11.

15.

Widespread DNA hypomethylation at gene enhancer regions in placentas associated with early-onset pre-eclampsia.

Blair JD, Yuen RK, Lim BK, McFadden DE, von Dadelszen P, Robinson WP.

Mol Hum Reprod. 2013 Oct;19(10):697-708. doi: 10.1093/molehr/gat044. Epub 2013 Jun 13.

16.

Forensic analysis of laser printed ink by X-ray fluorescence and laser-excited plume fluorescence.

Chu PC, Cai BY, Tsoi YK, Yuen R, Leung KS, Cheung NH.

Anal Chem. 2013 May 7;85(9):4311-5. doi: 10.1021/ac400378q. Epub 2013 Apr 24.

PMID:
23570307
17.

Hypoxia alters the epigenetic profile in cultured human placental trophoblasts.

Yuen RK, Chen B, Blair JD, Robinson WP, Nelson DM.

Epigenetics. 2013 Feb;8(2):192-202. doi: 10.4161/epi.23400. Epub 2013 Jan 11.

18.

The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders.

Buxbaum JD, Daly MJ, Devlin B, Lehner T, Roeder K, State MW; Autism Sequencing Consortium.

Neuron. 2012 Dec 20;76(6):1052-6. doi: 10.1016/j.neuron.2012.12.008.

19.

Patterns of placental development evaluated by X chromosome inactivation profiling provide a basis to evaluate the origin of epigenetic variation.

Peñaherrera MS, Jiang R, Avila L, Yuen RK, Brown CJ, Robinson WP.

Hum Reprod. 2012 Jun;27(6):1745-53. doi: 10.1093/humrep/des072. Epub 2012 Mar 19.

20.

Benefits and safety of long-term fenofibrate therapy in people with type 2 diabetes and renal impairment: the FIELD Study.

Ting RD, Keech AC, Drury PL, Donoghoe MW, Hedley J, Jenkins AJ, Davis TM, Lehto S, Celermajer D, Simes RJ, Rajamani K, Stanton K; FIELD Study Investigators.

Diabetes Care. 2012 Feb;35(2):218-25. doi: 10.2337/dc11-1109. Epub 2011 Dec 30.

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