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Items: 1 to 50 of 62

1.

A large data resource of genomic copy number variation across neurodevelopmental disorders.

Zarrei M, Burton CL, Engchuan W, Young EJ, Higginbotham EJ, MacDonald JR, Trost B, Chan AJS, Walker S, Lamoureux S, Heung T, Mojarad BA, Kellam B, Paton T, Faheem M, Miron K, Lu C, Wang T, Samler K, Wang X, Costain G, Hoang N, Pellecchia G, Wei J, Patel RV, Thiruvahindrapuram B, Roifman M, Merico D, Goodale T, Drmic I, Speevak M, Howe JL, Yuen RKC, Buchanan JA, Vorstman JAS, Marshall CR, Wintle RF, Rosenberg DR, Hanna GL, Woodbury-Smith M, Cytrynbaum C, Zwaigenbaum L, Elsabbagh M, Flanagan J, Fernandez BA, Carter MT, Szatmari P, Roberts W, Lerch J, Liu X, Nicolson R, Georgiades S, Weksberg R, Arnold PD, Bassett AS, Crosbie J, Schachar R, Stavropoulos DJ, Anagnostou E, Scherer SW.

NPJ Genom Med. 2019 Oct 7;4:26. doi: 10.1038/s41525-019-0098-3. eCollection 2019.

PMID:
31602316
2.

Synaptic Dysfunction in Human Neurons With Autism-Associated Deletions in PTCHD1-AS.

Ross PJ, Zhang WB, Mok RSF, Zaslavsky K, Deneault E, D'Abate L, Rodrigues DC, Yuen RKC, Faheem M, Mufteev M, Piekna A, Wei W, Pasceri P, Landa RJ, Nagy A, Varga B, Salter MW, Scherer SW, Ellis J.

Biol Psychiatry. 2019 Jul 29. pii: S0006-3223(19)31547-1. doi: 10.1016/j.biopsych.2019.07.014. [Epub ahead of print]

3.

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.

Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, Harlan De Crescenzo A, Kotzaeridou U, Syrbe S, Anagnostou E, Azage M, Bend R, Begtrup A, Brown NJ, Büttner B, Cho MT, Cooper GM, Doering JH, Dubourg C, Everman DB, Hildebrand MS, Santos FJR, Kellam B, Keller-Ramey J, Lemke JR, Liu S, Niyazov D, Payne K, Person R, Quélin C, Schnur RE, Smith BT, Strober J, Walker S, Wallis M, Walsh L, Yang S, Yuen RKC, Ziegler A, Sticht H, Pride MC, Orosco L, Martínez-Cerdeño V, Silverman JL, Crawley JN, Scherer SW, Zarbalis KS, Jamra R.

Brain. 2019 Sep 1;142(9):2617-2630. doi: 10.1093/brain/awz198.

PMID:
31327001
4.

Simultaneous fire safety enhancement and mechanical reinforcement of poly(lactic acid) biocomposites with hexaphenyl (nitrilotris(ethane-2,1-diyl))tris(phosphoramidate).

Tawiah B, Yu B, Wei R, Yuen RKK, Chen W, Xin JH, Fei B.

J Hazard Mater. 2019 Dec 15;380:120856. doi: 10.1016/j.jhazmat.2019.120856. Epub 2019 Jul 2.

PMID:
31284172
5.

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease.

Wright GEB, Collins JA, Kay C, McDonald C, Dolzhenko E, Xia Q, Bečanović K, Drögemöller BI, Semaka A, Nguyen CM, Trost B, Richards F, Bijlsma EK, Squitieri F, Ross CJD, Scherer SW, Eberle MA, Yuen RKC, Hayden MR.

Am J Hum Genet. 2019 Jun 6;104(6):1116-1126. doi: 10.1016/j.ajhg.2019.04.007. Epub 2019 May 16.

PMID:
31104771
6.

Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants.

Chan AJS, Cytrynbaum C, Hoang N, Ambrozewicz PM, Weksberg R, Drmic I, Ritzema A, Schachar R, Walker S, Uddin M, Zarrei M, Yuen RKC, Scherer SW.

NPJ Genom Med. 2019 Apr 26;4:9. doi: 10.1038/s41525-019-0083-x. eCollection 2019.

7.

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.

van Kuilenburg ABP, Tarailo-Graovac M, Richmond PA, Drögemöller BI, Pouladi MA, Leen R, Brand-Arzamendi K, Dobritzsch D, Dolzhenko E, Eberle MA, Hayward B, Jones MJ, Karbassi F, Kobor MS, Koster J, Kumari D, Li M, MacIsaac J, McDonald C, Meijer J, Nguyen C, Rajan-Babu IS, Scherer SW, Sim B, Trost B, Tseng LA, Turkenburg M, van Vugt JJFA, Veldink JH, Walia JS, Wang Y, van Weeghel M, Wright GEB, Xu X, Yuen RKC, Zhang J, Ross CJ, Wasserman WW, Geraghty MT, Santra S, Wanders RJA, Wen XY, Waterham HR, Usdin K, van Karnebeek CDM.

N Engl J Med. 2019 Apr 11;380(15):1433-1441. doi: 10.1056/NEJMoa1806627.

PMID:
30970188
8.

Electrochemically Exfoliated Functionalized Black Phosphorene and Its Polyurethane Acrylate Nanocomposites: Synthesis and Applications.

Qiu S, Zou B, Sheng H, Guo W, Wang J, Zhao Y, Wang W, Yuen RKK, Kan Y, Hu Y.

ACS Appl Mater Interfaces. 2019 Apr 10;11(14):13652-13664. doi: 10.1021/acsami.8b22115. Epub 2019 Apr 1.

PMID:
30900457
9.

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons.

Deneault E, White SH, Rodrigues DC, Ross PJ, Faheem M, Zaslavsky K, Wang Z, Alexandrova R, Pellecchia G, Wei W, Piekna A, Kaur G, Howe JL, Kwan V, Thiruvahindrapuram B, Walker S, Lionel AC, Pasceri P, Merico D, Yuen RKC, Singh KK, Ellis J, Scherer SW.

Stem Cell Reports. 2019 Feb 12;12(2):427-429. doi: 10.1016/j.stemcr.2019.01.008. No abstract available.

10.

CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks.

Deneault E, Faheem M, White SH, Rodrigues DC, Sun S, Wei W, Piekna A, Thompson T, Howe JL, Chalil L, Kwan V, Walker S, Pasceri P, Roth FP, Yuen RK, Singh KK, Ellis J, Scherer SW.

Elife. 2019 Feb 12;8. pii: e40092. doi: 10.7554/eLife.40092.

11.

Air-Stable Polyphosphazene-Functionalized Few-Layer Black Phosphorene for Flame Retardancy of Epoxy Resins.

Qiu S, Zhou Y, Zhou X, Zhang T, Wang C, Yuen RKK, Hu W, Hu Y.

Small. 2019 Mar;15(10):e1805175. doi: 10.1002/smll.201805175. Epub 2019 Feb 4.

PMID:
30714318
12.

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons.

Deneault E, White SH, Rodrigues DC, Ross PJ, Faheem M, Zaslavsky K, Wang Z, Alexandrova R, Pellecchia G, Wei W, Piekna A, Kaur G, Howe JL, Kwan V, Thiruvahindrapuram B, Walker S, Lionel AC, Pasceri P, Merico D, Yuen RKC, Singh KK, Ellis J, Scherer SW.

Stem Cell Reports. 2018 Nov 13;11(5):1211-1225. doi: 10.1016/j.stemcr.2018.10.003. Epub 2018 Nov 1. Erratum in: Stem Cell Reports. 2019 Feb 12;12(2):427-429.

13.

A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees.

Woodbury-Smith M, Paterson AD, O'Connor I, Zarrei M, Yuen RKC, Howe JL, Thompson A, Parlier M, Fernandez B, Piven J, Scherer SW, Vieland V, Szatmari P.

J Neurodev Disord. 2018 Jun 11;10(1):20. doi: 10.1186/s11689-018-9238-9.

14.

Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling.

Richter M, Murtaza N, Scharrenberg R, White SH, Johanns O, Walker S, Yuen RKC, Schwanke B, Bedürftig B, Henis M, Scharf S, Kraus V, Dörk R, Hellmann J, Lindenmaier Z, Ellegood J, Hartung H, Kwan V, Sedlacik J, Fiehler J, Schweizer M, Lerch JP, Hanganu-Opatz IL, Morellini F, Scherer SW, Singh KK, Calderon de Anda F.

Mol Psychiatry. 2019 Sep;24(9):1329-1350. doi: 10.1038/s41380-018-0025-5. Epub 2018 Feb 21.

15.

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

Reuter MS, Walker S, Thiruvahindrapuram B, Whitney J, Cohn I, Sondheimer N, Yuen RKC, Trost B, Paton TA, Pereira SL, Herbrick JA, Wintle RF, Merico D, Howe J, MacDonald JR, Lu C, Nalpathamkalam T, Sung WWL, Wang Z, Patel RV, Pellecchia G, Wei J, Strug LJ, Bell S, Kellam B, Mahtani MM, Bassett AS, Bombard Y, Weksberg R, Shuman C, Cohn RD, Stavropoulos DJ, Bowdin S, Hildebrandt MR, Wei W, Romm A, Pasceri P, Ellis J, Ray P, Meyn MS, Monfared N, Hosseini SM, Joseph-George AM, Keeley FW, Cook RA, Fiume M, Lee HC, Marshall CR, Davies J, Hazell A, Buchanan JA, Szego MJ, Scherer SW.

CMAJ. 2018 Feb 5;190(5):E126-E136. doi: 10.1503/cmaj.171151.

16.

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data.

Trost B, Walker S, Wang Z, Thiruvahindrapuram B, MacDonald JR, Sung WWL, Pereira SL, Whitney J, Chan AJS, Pellecchia G, Reuter MS, Lok S, Yuen RKC, Marshall CR, Merico D, Scherer SW.

Am J Hum Genet. 2018 Jan 4;102(1):142-155. doi: 10.1016/j.ajhg.2017.12.007.

17.

Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes.

Uddin M, Woodbury-Smith M, Chan A, Brunga L, Lamoureux S, Pellecchia G, Yuen RKC, Faheem M, Stavropoulos DJ, Drake J, Hahn CD, Hawkins C, Shlien A, Marshall CR, Turner LA, Minassian BA, Scherer SW, Boelman C.

Neurol Genet. 2017 Dec 18;3(6):e199. doi: 10.1212/NXG.0000000000000199. eCollection 2017 Dec.

18.

Melamine-containing polyphosphazene wrapped ammonium polyphosphate: A novel multifunctional organic-inorganic hybrid flame retardant.

Qiu S, Ma C, Wang X, Zhou X, Feng X, Yuen RKK, Hu Y.

J Hazard Mater. 2018 Feb 15;344:839-848. doi: 10.1016/j.jhazmat.2017.11.018. Epub 2017 Nov 20.

PMID:
29190581
19.

Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.

Woodbury-Smith M, Deneault E, Yuen RKC, Walker S, Zarrei M, Pellecchia G, Howe JL, Hoang N, Uddin M, Marshall CR, Chrysler C, Thompson A, Szatmari P, Scherer SW.

Mol Autism. 2017 Nov 9;8:59. doi: 10.1186/s13229-017-0175-3. eCollection 2017.

20.

Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes.

Woodbury-Smith M, Nicolson R, Zarrei M, Yuen RKC, Walker S, Howe J, Uddin M, Hoang N, Buchanan JA, Chrysler C, Thompson A, Szatmari P, Scherer SW.

NPJ Genom Med. 2017 May 3;2. pii: 17. doi: 10.1038/s41525-017-0020-9.

21.

Constructing 3D Polyphosphazene Nanotube@Mesoporous Silica@Bimetallic Phosphide Ternary Nanostructures via Layer-by-Layer Method: Synthesis and Applications.

Qiu S, Shi Y, Wang B, Zhou X, Wang J, Wang C, Gangireddy CSR, Yuen RKK, Hu Y.

ACS Appl Mater Interfaces. 2017 Jul 12;9(27):23027-23038. doi: 10.1021/acsami.7b06440. Epub 2017 Jun 27.

PMID:
28618221
22.

Graphitic carbon nitride/phosphorus-rich aluminum phosphinates hybrids as smoke suppressants and flame retardants for polystyrene.

Shi Y, Yu B, Duan L, Gui Z, Wang B, Hu Y, Yuen RKK.

J Hazard Mater. 2017 Jun 15;332:87-96. doi: 10.1016/j.jhazmat.2017.03.006. Epub 2017 Mar 6.

PMID:
28285110
23.

De Novo Genome and Transcriptome Assembly of the Canadian Beaver (Castor canadensis).

Lok S, Paton TA, Wang Z, Kaur G, Walker S, Yuen RK, Sung WW, Whitney J, Buchanan JA, Trost B, Singh N, Apresto B, Chen N, Coole M, Dawson TJ, Ho K, Hu Z, Pullenayegum S, Samler K, Shipstone A, Tsoi F, Wang T, Pereira SL, Rostami P, Ryan CA, Tong AH, Ng K, Sundaravadanam Y, Simpson JT, Lim BK, Engstrom MD, Dutton CJ, Kerr KC, Franke M, Rapley W, Wintle RF, Scherer SW.

G3 (Bethesda). 2017 Feb 9;7(2):755-773. doi: 10.1534/g3.116.038208.

24.

A 3D Nanostructure Based on Transition-Metal Phosphide Decorated Heteroatom-Doped Mesoporous Nanospheres Interconnected with Graphene: Synthesis and Applications.

Qiu S, Xing W, Mu X, Feng X, Ma C, Yuen RK, Hu Y.

ACS Appl Mater Interfaces. 2016 Nov 30;8(47):32528-32540. Epub 2016 Nov 17.

PMID:
27933850
25.

Flame-retardant-wrapped polyphosphazene nanotubes: A novel strategy for enhancing the flame retardancy and smoke toxicity suppression of epoxy resins.

Qiu S, Wang X, Yu B, Feng X, Mu X, Yuen RKK, Hu Y.

J Hazard Mater. 2017 Mar 5;325:327-339. doi: 10.1016/j.jhazmat.2016.11.057. Epub 2016 Nov 20.

PMID:
27932036
26.

DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants.

Kwan V, Meka DP, White SH, Hung CL, Holzapfel NT, Walker S, Murtaza N, Unda BK, Schwanke B, Yuen RKC, Habing K, Milsom C, Hope KJ, Truant R, Scherer SW, Calderon de Anda F, Singh KK.

Cell Rep. 2016 Nov 8;17(7):1892-1904. doi: 10.1016/j.celrep.2016.10.047.

27.

Rapporteur summaries of plenary, symposia, and oral sessions from the XXIIIrd World Congress of Psychiatric Genetics Meeting in Toronto, Canada, 16-20 October 2015.

Zai G, Alberry B, Arloth J, Bánlaki Z, Bares C, Boot E, Camilo C, Chadha K, Chen Q, Cole CB, Cost KT, Crow M, Ekpor I, Fischer SB, Flatau L, Gagliano S, Kirli U, Kukshal P, Labrie V, Lang M, Lett TA, Maffioletti E, Maier R, Mihaljevic M, Mittal K, Monson ET, O'Brien NL, Østergaard SD, Ovenden E, Patel S, Peterson RE, Pouget JG, Rovaris DL, Seaman L, Shankarappa B, Tsetsos F, Vereczkei A, Wang C, Xulu K, Yuen RK, Zhao J, Zai CC, Kennedy JL.

Psychiatr Genet. 2016 Dec;26(6):229-257.

28.

Functionalized Carbon Nanotubes with Phosphorus- and Nitrogen-Containing Agents: Effective Reinforcer for Thermal, Mechanical, and Flame-Retardant Properties of Polystyrene Nanocomposites.

Xing W, Yang W, Yang W, Hu Q, Si J, Lu H, Yang B, Song L, Hu Y, Yuen RK.

ACS Appl Mater Interfaces. 2016 Oct 5;8(39):26266-26274. Epub 2016 Sep 21.

PMID:
27652692
29.

Genome-wide characteristics of de novo mutations in autism.

Yuen RK, Merico D, Cao H, Pellecchia G, Alipanahi B, Thiruvahindrapuram B, Tong X, Sun Y, Cao D, Zhang T, Wu X, Jin X, Zhou Z, Liu X, Nalpathamkalam T, Walker S, Howe JL, Wang Z, MacDonald JR, Chan A, D'Abate L, Deneault E, Siu MT, Tammimies K, Uddin M, Zarrei M, Wang M, Li Y, Wang J, Wang J, Yang H, Bookman M, Bingham J, Gross SS, Loy D, Pletcher M, Marshall CR, Anagnostou E, Zwaigenbaum L, Weksberg R, Fernandez BA, Roberts W, Szatmari P, Glazer D, Frey BJ, Ring RH, Xu X, Scherer SW.

NPJ Genom Med. 2016 Aug 3;1:160271-1602710.

30.

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay.

Uddin M, Pellecchia G, Thiruvahindrapuram B, D'Abate L, Merico D, Chan A, Zarrei M, Tammimies K, Walker S, Gazzellone MJ, Nalpathamkalam T, Yuen RK, Devriendt K, Mathonnet G, Lemyre E, Nizard S, Shago M, Joseph-George AM, Noor A, Carter MT, Yoon G, Kannu P, Tihy F, Thorland EC, Marshall CR, Buchanan JA, Speevak M, Stavropoulos DJ, Scherer SW.

Sci Rep. 2016 Jul 1;6:28663. doi: 10.1038/srep28663.

31.

CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.

Mercati O, Huguet G, Danckaert A, André-Leroux G, Maruani A, Bellinzoni M, Rolland T, Gouder L, Mathieu A, Buratti J, Amsellem F, Benabou M, Van-Gils J, Beggiato A, Konyukh M, Bourgeois JP, Gazzellone MJ, Yuen RK, Walker S, Delépine M, Boland A, Régnault B, Francois M, Van Den Abbeele T, Mosca-Boidron AL, Faivre L, Shimoda Y, Watanabe K, Bonneau D, Rastam M, Leboyer M, Scherer SW, Gillberg C, Delorme R, Cloëz-Tayarani I, Bourgeron T.

Mol Psychiatry. 2017 Apr;22(4):625-633. doi: 10.1038/mp.2016.61. Epub 2016 May 10.

32.

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.

Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ, Hayeems RZ, Shaul RZ, Brudno M, Girdea M, Frey B, Alipanahi B, Ahmed S, Babul-Hirji R, Porras RB, Carter MT, Chad L, Chaudhry A, Chitayat D, Doust SJ, Cytrynbaum C, Dupuis L, Ejaz R, Fishman L, Guerin A, Hashemi B, Helal M, Hewson S, Inbar-Feigenberg M, Kannu P, Karp N, Kim R, Kronick J, Liston E, MacDonald H, Mercimek-Mahmutoglu S, Mendoza-Londono R, Nasr E, Nimmo G, Parkinson N, Quercia N, Raiman J, Roifman M, Schulze A, Shugar A, Shuman C, Sinajon P, Siriwardena K, Weksberg R, Yoon G, Carew C, Erickson R, Leach RA, Klein R, Ray PN, Meyn MS, Scherer SW, Cohn RD, Marshall CR.

NPJ Genom Med. 2016 Jan 13;1. pii: 15012. doi: 10.1038/npjgenmed.2015.12.

33.

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

Merico D, Roifman M, Braunschweig U, Yuen RK, Alexandrova R, Bates A, Reid B, Nalpathamkalam T, Wang Z, Thiruvahindrapuram B, Gray P, Kakakios A, Peake J, Hogarth S, Manson D, Buncic R, Pereira SL, Herbrick JA, Blencowe BJ, Roifman CM, Scherer SW.

Nat Commun. 2015 Nov 2;6:8718. doi: 10.1038/ncomms9718.

34.

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.

Tammimies K, Marshall CR, Walker S, Kaur G, Thiruvahindrapuram B, Lionel AC, Yuen RK, Uddin M, Roberts W, Weksberg R, Woodbury-Smith M, Zwaigenbaum L, Anagnostou E, Wang Z, Wei J, Howe JL, Gazzellone MJ, Lau L, Sung WW, Whitten K, Vardy C, Crosbie V, Tsang B, D'Abate L, Tong WW, Luscombe S, Doyle T, Carter MT, Szatmari P, Stuckless S, Merico D, Stavropoulos DJ, Scherer SW, Fernandez BA.

JAMA. 2015 Sep 1;314(9):895-903. doi: 10.1001/jama.2015.10078.

PMID:
26325558
35.

Novel CuCo2O4/graphitic carbon nitride nanohybrids: Highly effective catalysts for reducing CO generation and fire hazards of thermoplastic polyurethane nanocomposites.

Shi Y, Yu B, Zhou K, Yuen RK, Gui Z, Hu Y, Jiang S.

J Hazard Mater. 2015 Aug 15;293:87-96. doi: 10.1016/j.jhazmat.2015.03.041. Epub 2015 Mar 21.

PMID:
25837685
36.

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 May;21(5):452-65. doi: 10.1093/molehr/gav007. Epub 2015 Feb 19.

37.

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
38.

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.

39.

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
40.

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.

41.

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
42.

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
43.

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

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