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Items: 29

1.

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.

2.

Progress in the genetics of autism spectrum disorder.

Woodbury-Smith M, Scherer SW.

Dev Med Child Neurol. 2018 May;60(5):445-451. doi: 10.1111/dmcn.13717. Epub 2018 Mar 25. Review.

PMID:
29574884
3.

JBS Haldane: an evolutionary geneticist not without controversy.

Woodbury-Smith M.

Eur J Hum Genet. 2018 Jul;26(7):1078. doi: 10.1038/s41431-017-0093-z. No abstract available.

PMID:
29511325
4.

Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots.

Uddin M, Woodbury-Smith M, Chan AJS, Albanna A, Minassian B, Boelman C, Scherer SW.

G3 (Bethesda). 2018 Mar 28;8(4):1115-1118. doi: 10.1534/g3.118.200080.

5.

OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.

Uddin M, Unda BK, Kwan V, Holzapfel NT, White SH, Chalil L, Woodbury-Smith M, Ho KS, Harward E, Murtaza N, Dave B, Pellecchia G, D'Abate L, Nalpathamkalam T, Lamoureux S, Wei J, Speevak M, Stavropoulos J, Hope KJ, Doble BW, Nielsen J, Wassman ER, Scherer SW, Singh KK.

Am J Hum Genet. 2018 Feb 1;102(2):278-295. doi: 10.1016/j.ajhg.2018.01.006.

6.

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.

7.

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.

8.

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.

9.

Combined genome-wide linkage and targeted association analysis of head circumference in autism spectrum disorder families.

Woodbury-Smith M, Bilder DA, Morgan J, Jerominski L, Darlington T, Dyer T, Paterson AD, Coon H.

J Neurodev Disord. 2017 Feb 13;9:5. doi: 10.1186/s11689-017-9187-8. eCollection 2017.

10.

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.

C Yuen RK, Merico D, Bookman M, L Howe J, Thiruvahindrapuram B, Patel RV, Whitney J, Deflaux N, Bingham J, Wang Z, Pellecchia G, Buchanan JA, Walker S, Marshall CR, Uddin M, Zarrei M, Deneault E, D'Abate L, Chan AJ, Koyanagi S, Paton T, Pereira SL, Hoang N, Engchuan W, Higginbotham EJ, Ho K, Lamoureux S, Li W, MacDonald JR, Nalpathamkalam T, Sung WW, Tsoi FJ, Wei J, Xu L, Tasse AM, Kirby E, Van Etten W, Twigger S, Roberts W, Drmic I, Jilderda S, Modi BM, Kellam B, Szego M, Cytrynbaum C, Weksberg R, Zwaigenbaum L, Woodbury-Smith M, Brian J, Senman L, Iaboni A, Doyle-Thomas K, Thompson A, Chrysler C, Leef J, Savion-Lemieux T, Smith IM, Liu X, Nicolson R, Seifer V, Fedele A, Cook EH, Dager S, Estes A, Gallagher L, Malow BA, Parr JR, Spence SJ, Vorstman J, Frey BJ, Robinson JT, Strug LJ, Fernandez BA, Elsabbagh M, Carter MT, Hallmayer J, Knoppers BM, Anagnostou E, Szatmari P, Ring RH, Glazer D, Pletcher MT, Scherer SW.

Nat Neurosci. 2017 Apr;20(4):602-611. doi: 10.1038/nn.4524. Epub 2017 Mar 6.

11.

Improving the uptake of health screening among individuals with intellectual disability.

Woodbury-Smith M.

Dev Med Child Neurol. 2016 Dec;58(12):1207. doi: 10.1111/dmcn.13193. Epub 2016 Jun 27. No abstract available.

12.

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
13.

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
14.

Editorial: ASD and illegal behaviors.

Woodbury-Smith M.

J Autism Dev Disord. 2014 Nov;44(11):2679-81. doi: 10.1007/s10803-014-2237-0.

PMID:
25217089
15.

Autism spectrum disorder (ASD) and unlawful behaviour: where do we go from here?

Woodbury-Smith M, Dein K.

J Autism Dev Disord. 2014 Nov;44(11):2734-41. doi: 10.1007/s10803-014-2216-5. Review.

PMID:
25155337
16.

Practice parameter for the assessment and treatment of children and adolescents with autism spectrum disorder.

Volkmar F, Siegel M, Woodbury-Smith M, King B, McCracken J, State M; American Academy of Child and Adolescent Psychiatry (AACAP) Committee on Quality Issues (CQI).

J Am Acad Child Adolesc Psychiatry. 2014 Feb;53(2):237-57. doi: 10.1016/j.jaac.2013.10.013. Review. Erratum in: J Am Acad Child Adolesc Psychiatry. 2014 Aug;53(8):931.

17.

Autism spectrum disorder: advances in evidence-based practice.

Anagnostou E, Zwaigenbaum L, Szatmari P, Fombonne E, Fernandez BA, Woodbury-Smith M, Brian J, Bryson S, Smith IM, Drmic I, Buchanan JA, Roberts W, Scherer SW.

CMAJ. 2014 Apr 15;186(7):509-19. doi: 10.1503/cmaj.121756. Epub 2014 Jan 13. Review. No abstract available.

18.

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.

19.

A molecular genetic study of autism and related phenotypes in extended pedigrees.

Piven J, Vieland VJ, Parlier M, Thompson A, O'Conner I, Woodbury-Smith M, Huang Y, Walters KA, Fernandez B, Szatmari P.

J Neurodev Disord. 2013 Oct 5;5(1):30. doi: 10.1186/1866-1955-5-30.

20.

Sex differences in repetitive stereotyped behaviors in autism: implications for genetic liability.

Szatmari P, Liu XQ, Goldberg J, Zwaigenbaum L, Paterson AD, Woodbury-Smith M, Georgiades S, Duku E, Thompson A.

Am J Med Genet B Neuropsychiatr Genet. 2012 Jan;159B(1):5-12. doi: 10.1002/ajmg.b.31238. Epub 2011 Nov 16.

PMID:
22095612
21.

Improving the medical scale predictability by the pairwise comparisons method: evidence from a clinical data study.

Kakiashvili T, Koczkodaj WW, Woodbury-Smith M.

Comput Methods Programs Biomed. 2012 Mar;105(3):210-6. doi: 10.1016/j.cmpb.2011.09.011. Epub 2011 Nov 15.

PMID:
22088867
22.

Youth in transition: care, health and development.

Gorter JW, Stewart D, Woodbury-Smith M.

Child Care Health Dev. 2011 Nov;37(6):757-63. doi: 10.1111/j.1365-2214.2011.01336.x. No abstract available.

PMID:
22007974
23.

Managing anxiety and depressive symptoms in adults with autism-spectrum disorders.

Boyd K, Woodbury-Smith M, Szatmari P.

J Psychiatry Neurosci. 2011 Jul;36(4):E35-6. doi: 10.1503/jpn.110040. No abstract available.

24.

Autism spectrum disorders, schizophrenia and diagnostic confusion.

Woodbury-Smith MR, Boyd K, Szatmari P.

J Psychiatry Neurosci. 2010 Sep;35(5):360. doi: 10.1503/jpn.100130. No abstract available.

25.

Asperger syndrome.

Woodbury-Smith MR, Volkmar FR.

Eur Child Adolesc Psychiatry. 2009 Jan;18(1):2-11. doi: 10.1007/s00787-008-0701-0. Epub 2008 Jun 18. Review.

PMID:
18563474
26.

Clinical heterogeneity among people with high functioning autism spectrum conditions: evidence favouring a continuous severity gradient.

Ring H, Woodbury-Smith M, Watson P, Wheelwright S, Baron-Cohen S.

Behav Brain Funct. 2008 Feb 20;4:11. doi: 10.1186/1744-9081-4-11.

27.

The Adult Asperger Assessment (AAA): a diagnostic method.

Baron-Cohen S, Wheelwright S, Robinson J, Woodbury-Smith M.

J Autism Dev Disord. 2005 Dec;35(6):807-19.

PMID:
16331530
28.

Screening adults for Asperger Syndrome using the AQ: a preliminary study of its diagnostic validity in clinical practice.

Woodbury-Smith MR, Robinson J, Wheelwright S, Baron-Cohen S.

J Autism Dev Disord. 2005 Jun;35(3):331-5.

PMID:
16119474
29.

Asperger's syndrome: a comparison of clinical diagnoses and those made according to the ICD-10 and DSM-IV.

Woodbury-Smith M, Klin A, Volkmar F.

J Autism Dev Disord. 2005 Apr;35(2):235-40.

PMID:
15909409

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