James Sutcliffe
Last active: 2/20/2014

Profile

Autism is a neurodevelopmental disorder affecting approximately 1 in 88 children. The broader autism spectrum of pervasive developmental disorders may have a current prevalene as high as 1 in 150. Autism exhibits a complex genetic etiology with significant clinical and locus heterogeneity. Alleles at up to twenty genes may combine in some unknown way to produce the overall risk for development of this disorder in any one individual or family. Our web site on autism and ongoing studies is at http://autismgenes.org We are dissecting the genetics of autism using a combination of molecular and statistical genetic approaches, informed by the altered physiology and neurodevelopment observed in patients. We are using state of the art methods to identify genetic effects using linkage and allelic association analyses, as well as testing for potential for gene-gene or epigenetic effects that may play a role in disease susceptibility. Additionally, we are dissecting the autism phenotype by using genetically-relevant traits that represent subphenotypes of this clinically variable disorder. Quantitative traits may be particularly useful in identifying loci that contribute to specific aspects of the phenotype rather than the phenotype overall. Several candidate regions are the focus of ongoing study. One such interval in chromosome 15q11-q13 has been implicated in autism-spectrum phenotypes based on observations of chromosomal duplications leading to increased gene copy for this region. Potential maternal-specificity of the duplication origin and increasing severity of phenotype with increasing gene copy imply involvement of genomic imprinting and gene dosage effects. This chromosomal region harbors genes involved in two other neurobehavioral phenotypes (Prader-Willi syndrome and Angelman syndrome), which exhibit opposite patterns of genomic imprinting and features in common with autism. Candidate gene and linkage studies have yielded evidence for involvement of this region in susceptibility for development of autism in families without chromosomal abnormalities. Functional candidate genes in the relevant 15q11-q13 interval include a cluster of gamma-aminobutyric acid (GABA) receptor subunits (beta3, alpha5 and gamma3), the E6-AP ubiquitin-protein ligase (UBE3A) gene, also responsible for Angelman syndrome. This region is also a prime candidate for involvement of some epigenetic phenomenon that will be difficult to identify using standard approaches. Other candidate regions we are studying include chromosomes 17q11 and 19p. These and other regions were detected by genomic linkage in autism families and all contain genes which are thought to be highly relevant to the known neurobiology of autism. A notable example is the serotonin transporter gene (SLC6A4), which maps to 17q11.2 and has long been considered an excellent functional candidate gene in autism and other neuropsychiatric disorders. Finally, we are pursuing candidate genes in neuronal systems thought to be important in autism, including serotonin, glutamate, and several others. Our approach is to examine genes and intervals using a combination of genetic linkage and high-resolution allelic association studies in autism families and through direct screening for disease-specific mutations. As disease-associated alleles are identified, we will identify the specific susceptibility variant and determine how it affects gene expression or protein function using various in vitro and in vivo (e.g. mouse models) strategies.

Publications

The following timeline graph is generated from all co-authored publications.

Featured publications are shown below:

  1. Drosophila melanogaster: a novel animal model for the behavioral characterization of autism-associated mutations in the dopamine transporter gene. Hamilton PJ, Campbell NG, Sharma S, Erreger K, Hansen FH, Saunders C, Belovich AN, Sahai MA, Cook EH, Gether U, McHaourab HS, Matthies HJ, Sutcliffe JS, Galli A (2013) Mol Psychiatry 18(12): 1235
    › Primary publication · 24253181 (PubMed)
  2. Genetic background modulates phenotypes of serotonin transporter Ala56 knock-in mice. Kerr TM, Muller CL, Miah M, Jetter CS, Pfeiffer R, Shah C, Baganz N, Anderson GM, Crawley JN, Sutcliffe JS, Blakely RD, Veenstra-Vanderweele J (2013) Mol Autism 4(1): 35
    › Primary publication · 24083388 (PubMed) · PMC3851031 (PubMed Central)
  3. De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder. Hamilton PJ, Campbell NG, Sharma S, Erreger K, Herborg Hansen F, Saunders C, Belovich AN, NIH ARRA Autism Sequencing Consortium, Sahai MA, Cook EH, Gether U, McHaourab HS, Matthies HJ, Sutcliffe JS, Galli A (2013) Mol Psychiatry 18(12): 1315-23
    › Primary publication · 23979605 (PubMed) · PMC4046646 (PubMed Central)
  4. Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes. He X, Sanders SJ, Liu L, De Rubeis S, Lim ET, Sutcliffe JS, Schellenberg GD, Gibbs RA, Daly MJ, Buxbaum JD, State MW, Devlin B, Roeder K (2013) PLoS Genet 9(8): e1003671
    › Primary publication · 23966865 (PubMed) · PMC3744441 (PubMed Central)
  5. Rare coding variants of the adenosine A3 receptor are increased in autism: on the trail of the serotonin transporter regulome. Campbell NG, Zhu CB, Lindler KM, Yaspan BL, Kistner-Griffin E, NIH ARRA Consortium, Hewlett WA, Tate CG, Blakely RD, Sutcliffe JS (2013) Mol Autism 4(1): 28
    › Primary publication · 23953133 (PubMed) · PMC3882891 (PubMed Central)
  6. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Cross-Disorder Group of the Psychiatric Genomics Consortium, Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, Andreassen OA, Anjorin A, Anney R, Anttila V, Arking DE, Asherson P, Azevedo MH, Backlund L, Badner JA, Bailey AJ, Banaschewski T, Barchas JD, Barnes MR, Barrett TB, Bass N, Battaglia A, Bauer M, Bayés M, Bellivier F, Bergen SE, Berrettini W, Betancur C, Bettecken T, Biederman J, Binder EB, Black DW, Blackwood DH, Bloss CS, Boehnke M, Boomsma DI, Breen G, Breuer R, Bruggeman R, Cormican P, Buccola NG, Buitelaar JK, Bunney WE, Buxbaum JD, Byerley WF, Byrne EM, Caesar S, Cahn W, Cantor RM, Casas M, Chakravarti A, Chambert K, Choudhury K, Cichon S, Cloninger CR, Collier DA, Cook EH, Coon H, Cormand B, Corvin A, Coryell WH, Craig DW, Craig IW, Crosbie J, Cuccaro ML, Curtis D, Czamara D, Datta S, Dawson G, Day R, De Geus EJ, Degenhardt F, Djurovic S, Donohoe GJ, Doyle AE, Duan J, Dudbridge F, Duketis E, Ebstein RP, Edenberg HJ, Elia J, Ennis S, Etain B, Fanous A, Farmer AE, Ferrier IN, Flickinger M, Fombonne E, Foroud T, Frank J, Franke B, Fraser C, Freedman R, Freimer NB, Freitag CM, Friedl M, Frisén L, Gallagher L, Gejman PV, Georgieva L, Gershon ES, Geschwind DH, Giegling I, Gill M, Gordon SD, Gordon-Smith K, Green EK, Greenwood TA, Grice DE, Gross M, Grozeva D, Guan W, Gurling H, De Haan L, Haines JL, Hakonarson H, Hallmayer J, Hamilton SP, Hamshere ML, Hansen TF, Hartmann AM, Hautzinger M, Heath AC, Henders AK, Herms S, Hickie IB, Hipolito M, Hoefels S, Holmans PA, Holsboer F, Hoogendijk WJ, Hottenga JJ, Hultman CM, Hus V, Ingason A, Ising M, Jamain S, Jones EG, Jones I, Jones L, Tzeng JY, Kähler AK, Kahn RS, Kandaswamy R, Keller MC, Kennedy JL, Kenny E, Kent L, Kim Y, Kirov GK, Klauck SM, Klei L, Knowles JA, Kohli MA, Koller DL, Konte B, Korszun A, Krabbendam L, Krasucki R, Kuntsi J, Kwan P, Landén M, Långström N, Lathrop M, Lawrence J, Lawson WB, Leboyer M, Ledbetter DH, Lee PH, Lencz T, Lesch KP, Levinson DF, Lewis CM, Li J, Lichtenstein P, Lieberman JA, Lin DY, Linszen DH, Liu C, Lohoff FW, Loo SK, Lord C, Lowe JK, Lucae S, MacIntyre DJ, Madden PA, Maestrini E, Magnusson PK, Mahon PB, Maier W, Malhotra AK, Mane SM, Martin CL, Martin NG, Mattheisen M, Matthews K, Mattingsdal M, McCarroll SA, McGhee KA, McGough JJ, McGrath PJ, McGuffin P, McInnis MG, McIntosh A, McKinney R, McLean AW, McMahon FJ, McMahon WM, McQuillin A, Medeiros H, Medland SE, Meier S, Melle I, Meng F, Meyer J, Middeldorp CM, Middleton L, Milanova V, Miranda A, Monaco AP, Montgomery GW, Moran JL, Moreno-De-Luca D, Morken G, Morris DW, Morrow EM, Moskvina V, Muglia P, Mühleisen TW, Muir WJ, Müller-Myhsok B, Murtha M, Myers RM, Myin-Germeys I, Neale MC, Nelson SF, Nievergelt CM, Nikolov I, Nimgaonkar V, Nolen WA, Nöthen MM, Nurnberger JI, Nwulia EA, Nyholt DR, O'Dushlaine C, Oades RD, Olincy A, Oliveira G, Olsen L, Ophoff RA, Osby U, Owen MJ, Palotie A, Parr JR, Paterson AD, Pato CN, Pato MT, Penninx BW, Pergadia ML, Pericak-Vance MA, Pickard BS, Pimm J, Piven J, Posthuma D, Potash JB, Poustka F, Propping P, Puri V, Quested DJ, Quinn EM, Ramos-Quiroga JA, Rasmussen HB, Raychaudhuri S, Rehnström K, Reif A, Ribasés M, Rice JP, Rietschel M, Roeder K, Roeyers H, Rossin L, Rothenberger A, Rouleau G, Ruderfer D, Rujescu D, Sanders AR, Sanders SJ, Santangelo SL, Sergeant JA, Schachar R, Schalling M, Schatzberg AF, Scheftner WA, Schellenberg GD, Scherer SW, Schork NJ, Schulze TG, Schumacher J, Schwarz M, Scolnick E, Scott LJ, Shi J, Shilling PD, Shyn SI, Silverman JM, Slager SL, Smalley SL, Smit JH, Smith EN, Sonuga-Barke EJ, St Clair D, State M, Steffens M, Steinhausen HC, Strauss JS, Strohmaier J, Stroup TS, Sutcliffe JS, Szatmari P, Szelinger S, Thirumalai S, Thompson RC, Todorov AA, Tozzi F, Treutlein J, Uhr M, van den Oord EJ, Van Grootheest G, Van Os J, Vicente AM, Vieland VJ, Vincent JB, Visscher PM, Walsh CA, Wassink TH, Watson SJ, Weissman MM, Werge T, Wienker TF, Wijsman EM, Willemsen G, Williams N, Willsey AJ, Witt SH, Xu W, Young AH, Yu TW, Zammit S, Zandi PP, Zhang P, Zitman FG, Zöllner S, Devlin B, Kelsoe JR, Sklar P, Daly MJ, O'Donovan MC, Craddock N, Sullivan PF, Smoller JW, Kendler KS, Wray NR, International Inflammatory Bowel Disease Genetics Consortium (IIBDGC) (2013) Nat Genet 45(9): 984-94
    › Primary publication · 23933821 (PubMed) · PMC3800159 (PubMed Central)
  7. Intellectual disability is associated with increased runs of homozygosity in simplex autism. Gamsiz ED, Viscidi EW, Frederick AM, Nagpal S, Sanders SJ, Murtha MT, Schmidt M, Simons Simplex Collection Genetics Consortium, Triche EW, Geschwind DH, State MW, Istrail S, Cook EH, Devlin B, Morrow EM (2013) Am J Hum Genet 93(1): 103-9
    › Primary publication · 23830515 (PubMed) · PMC3710760 (PubMed Central)
  8. Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait. Chaste P, Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Lese Martin C, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, State MW, Devlin B, Cook EH, Kim SJ (2013) Biol Psychiatry 74(8): 576-84
    › Primary publication · 23746936 (PubMed) · PMC3772969 (PubMed Central)
  9. Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA. Schafer CM, Campbell NG, Cai G, Yu F, Makarov V, Yoon S, Daly MJ, Gibbs RA, Schellenberg GD, Devlin B, Sutcliffe JS, Buxbaum JD, Roeder K (2013) Genomics 102(4): 270-7
    › Primary publication · 23743231 (PubMed) · PMC3812417 (PubMed Central)
  10. Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. Liu L, Sabo A, Neale BM, Nagaswamy U, Stevens C, Lim E, Bodea CA, Muzny D, Reid JG, Banks E, Coon H, Depristo M, Dinh H, Fennel T, Flannick J, Gabriel S, Garimella K, Gross S, Hawes A, Lewis L, Makarov V, Maguire J, Newsham I, Poplin R, Ripke S, Shakir K, Samocha KE, Wu Y, Boerwinkle E, Buxbaum JD, Cook EH, Devlin B, Schellenberg GD, Sutcliffe JS, Daly MJ, Gibbs RA, Roeder K (2013) PLoS Genet 9(4): e1003443
    › Primary publication · 23593035 (PubMed) · PMC3623759 (PubMed Central)
  11. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Lim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, MacArthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M, Lek M, Liu L, Flannick J, Ripke S, Nagaswamy U, Muzny D, Reid JG, Hawes A, Newsham I, Wu Y, Lewis L, Dinh H, Gross S, Wang LS, Lin CF, Valladares O, Gabriel SB, dePristo M, Altshuler DM, Purcell SM, NHLBI Exome Sequencing Project, State MW, Boerwinkle E, Buxbaum JD, Cook EH, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Daly MJ (2013) Neuron 77(2): 235-42
    › Primary publication · 23352160 (PubMed) · PMC3613849 (PubMed Central)
  12. 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 (2012) Neuron 76(6): 1052-6
    › Primary publication · 23259942 (PubMed) · PMC3863639 (PubMed Central)
  13. Common genetic variants, acting additively, are a major source of risk for autism. Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Martin CL, Martin DM, Morrow EM, Walsh CA, Melhem NM, Chaste P, Sutcliffe JS, State MW, Cook EH, Roeder K, Devlin B (2012) Mol Autism 3(1): 9
    › Primary publication · 23067556 (PubMed) · PMC3579743 (PubMed Central)
  14. Individual common variants exert weak effects on the risk for autism spectrum disorders. Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Casey J, Conroy J, Correia C, Corsello C, Crawford EL, de Jonge M, Delorme R, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Gilbert J, Gillberg C, Glessner JT, Green A, Green J, Guter SJ, Heron EA, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Jacob S, Kenny GP, Kim C, Kolevzon A, Kustanovich V, Lajonchere CM, Lamb JA, Law-Smith M, Leboyer M, Le Couteur A, Leventhal BL, Liu XQ, Lombard F, Lord C, Lotspeich L, Lund SC, Magalhaes TR, Mantoulan C, McDougle CJ, Melhem NM, Merikangas A, Minshew NJ, Mirza GK, Munson J, Noakes C, Nygren G, Papanikolaou K, Pagnamenta AT, Parrini B, Paton T, Pickles A, Posey DJ, Poustka F, Ragoussis J, Regan R, Roberts W, Roeder K, Roge B, Rutter ML, Schlitt S, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Sykes N, Tancredi R, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Vorstman JA, Wallace S, Wing K, Wittemeyer K, Wood S, Zurawiecki D, Zwaigenbaum L, Bailey AJ, Battaglia A, Cantor RM, Coon H, Cuccaro ML, Dawson G, Ennis S, Freitag CM, Geschwind DH, Haines JL, Klauck SM, McMahon WM, Maestrini E, Miller J, Monaco AP, Nelson SF, Nurnberger JI, Oliveira G, Parr JR, Pericak-Vance MA, Piven J, Schellenberg GD, Scherer SW, Vicente AM, Wassink TH, Wijsman EM, Betancur C, Buxbaum JD, Cook EH, Gallagher L, Gill M, Hallmayer J, Paterson AD, Sutcliffe JS, Szatmari P, Vieland VJ, Hakonarson H, Devlin B (2012) Hum Mol Genet 21(21): 4781-92
    › Primary publication · 22843504 (PubMed) · PMC3471395 (PubMed Central)
  15. Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci. Davis LK, Gamazon ER, Kistner-Griffin E, Badner JA, Liu C, Cook EH, Sutcliffe JS, Cox NJ (2012) Mol Autism 3(1): 3
    › Primary publication · 22591576 (PubMed) · PMC3484025 (PubMed Central)
  16. Scan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets. Ionita-Laza I, Makarov V, ARRA Autism Sequencing Consortium, Buxbaum JD (2012) Am J Hum Genet 90(6): 1002-13
    › Primary publication · 22578327 (PubMed) · PMC3370275 (PubMed Central)
  17. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum JD, Betancur C, Scherer SW, Sanders SJ, Geschwind DH, Sutcliffe JS, Hurles ME, Wanders RJ, Shaw CA, Leal SM, Cook EH, Goin-Kochel RP, Vaz FM, Beaudet AL (2012) Proc Natl Acad Sci U S A 109(21): 7974-81
    › Primary publication · 22566635 (PubMed) · PMC3361440 (PubMed Central)
  18. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shakir K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ (2012) Nature 485(7397): 242-5
    › Primary publication · 22495311 (PubMed) · PMC3613847 (PubMed Central)
  19. Autism gene variant causes hyperserotonemia, serotonin receptor hypersensitivity, social impairment and repetitive behavior. Veenstra-VanderWeele J, Muller CL, Iwamoto H, Sauer JE, Owens WA, Shah CR, Cohen J, Mannangatti P, Jessen T, Thompson BJ, Ye R, Kerr TM, Carneiro AM, Crawley JN, Sanders-Bush E, McMahon DG, Ramamoorthy S, Daws LC, Sutcliffe JS, Blakely RD (2012) Proc Natl Acad Sci U S A 109(14): 5469-74
    › Primary publication · 22431635 (PubMed) · PMC3325657 (PubMed Central)
  20. A multisite study of the clinical diagnosis of different autism spectrum disorders. Lord C, Petkova E, Hus V, Gan W, Lu F, Martin DM, Ousley O, Guy L, Bernier R, Gerdts J, Algermissen M, Whitaker A, Sutcliffe JS, Warren Z, Klin A, Saulnier C, Hanson E, Hundley R, Piggot J, Fombonne E, Steiman M, Miles J, Kanne SM, Goin-Kochel RP, Peters SU, Cook EH, Guter S, Tjernagel J, Green-Snyder LA, Bishop S, Esler A, Gotham K, Luyster R, Miller F, Olson J, Richler J, Risi S (2012) Arch Gen Psychiatry 69(3): 306-13
    › Primary publication · 22065253 (PubMed) · PMC3626112 (PubMed Central)
  21. A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Casey JP, Magalhaes T, Conroy JM, Regan R, Shah N, Anney R, Shields DC, Abrahams BS, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bolton PF, Bourgeron T, Brennan S, Cali P, Correia C, Corsello C, Coutanche M, Dawson G, de Jonge M, Delorme R, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Foley S, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Green J, Guter SJ, Hakonarson H, Holt R, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Lamb JA, Leboyer M, Le Couteur A, Leventhal BL, Lord C, Lund SC, Maestrini E, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Miller J, Minopoli F, Mirza GK, Munson J, Nelson SF, Nygren G, Oliveira G, Pagnamenta AT, Papanikolaou K, Parr JR, Parrini B, Pickles A, Pinto D, Piven J, Posey DJ, Poustka A, Poustka F, Ragoussis J, Roge B, Rutter ML, Sequeira AF, Soorya L, Sousa I, Sykes N, Stoppioni V, Tancredi R, Tauber M, Thompson AP, Thomson S, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Vorstman JA, Wallace S, Wang K, Wassink TH, White K, Wing K, Wittemeyer K, Yaspan BL, Zwaigenbaum L, Betancur C, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Geschwind DH, Haines JL, Hallmayer J, Monaco AP, Nurnberger JI, Pericak-Vance MA, Schellenberg GD, Scherer SW, Sutcliffe JS, Szatmari P, Vieland VJ, Wijsman EM, Green A, Gill M, Gallagher L, Vicente A, Ennis S (2012) Hum Genet 131(4): 565-79
    › Primary publication · 21996756 (PubMed) · PMC3303079 (PubMed Central)
  22. Accuracy of phenotyping children with autism based on parent report: what specifically do we gain phenotyping "rapidly"? Warren Z, Vehorn A, Dohrmann E, Nicholson A, Sutcliffe JS, Veenstra-Vanderweele J (2012) Autism Res 5(1): 31-8
    › Primary publication · 21972233 (PubMed)
  23. Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH, Stankiewicz P, State MW, Beaudet AL (2011) Hum Mol Genet 20(22): 4360-70
    › Primary publication · 21865298 (PubMed) · PMC3196886 (PubMed Central)
  24. Colocalization and regulated physical association of presynaptic serotonin transporters with A₃ adenosine receptors. Zhu CB, Lindler KM, Campbell NG, Sutcliffe JS, Hewlett WA, Blakely RD (2011) Mol Pharmacol 80(3): 458-65
    › Primary publication · 21705486 (PubMed) · PMC3164334 (PubMed Central)
  25. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Günel M, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH, Geschwind D, Roeder K, Devlin B, State MW (2011) Neuron 70(5): 863-85
    › Primary publication · 21658581 (PubMed) · PMC3939065 (PubMed Central)
  26. Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders. Anney RJ, Kenny EM, O'Dushlaine C, Yaspan BL, Parkhomenka E, Buxbaum JD, Sutcliffe J, Gill M, Gallagher L, Autism Genome Project, Buxbaum JD, Sutcliffe J, Gill M, Gallagher L (2011) Eur J Hum Genet 19(10): 1082-9
    › Primary publication · 21522181 (PubMed) · PMC3190264 (PubMed Central)
  27. Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder. Campbell DB, Datta D, Jones ST, Batey Lee E, Sutcliffe JS, Hammock EA, Levitt P (2011) J Neurodev Disord 3(2): 101-12
    › Primary publication · 21484202 (PubMed) · PMC3113442 (PubMed Central)
  28. Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism. Vieland VJ, Hallmayer J, Huang Y, Pagnamenta AT, Pinto D, Khan H, Monaco AP, Paterson AD, Scherer SW, Sutcliffe JS, Szatmari P, Autism Genome Project (AGP) (2011) J Neurodev Disord 3(2): 113-23
    › Primary publication · 21484201 (PubMed) · PMC3105232 (PubMed Central)
  29. Female rats are smarter than males: influence of test, oestrogen receptor subtypes and glutamate. Sutcliffe JS (2011) Curr Top Behav Neurosci : 37-56
    › Primary publication · 21365438 (PubMed)
  30. Parent-of-origin effects of the serotonin transporter gene associated with autism. Kistner-Griffin E, Brune CW, Davis LK, Sutcliffe JS, Cox NJ, Cook EH (2011) Am J Med Genet B Neuropsychiatr Genet 156(2): 139-44
    › Primary publication · 21302342 (PubMed) · PMC3438509 (PubMed Central)
  31. Genetic analysis of biological pathway data through genomic randomization. Yaspan BL, Bush WS, Torstenson ES, Ma D, Pericak-Vance MA, Ritchie MD, Sutcliffe JS, Haines JL (2011) Hum Genet 129(5): 563-71
    › Primary publication · 21279722 (PubMed) · PMC3107984 (PubMed Central)
  32. Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability. Pagnamenta AT, Khan H, Walker S, Gerrelli D, Wing K, Bonaglia MC, Giorda R, Berney T, Mani E, Molteni M, Pinto D, Le Couteur A, Hallmayer J, Sutcliffe JS, Szatmari P, Paterson AD, Scherer SW, Vieland VJ, Monaco AP (2011) J Med Genet 48(1): 48-54
    › Primary publication · 20972252 (PubMed) · PMC3003876 (PubMed Central)
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