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PUBMED FOR HANDHELDS

Journal Abstract Search


431 related items for PubMed ID: 31595719

  • 21. Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
    Munnich A, Demily C, Frugère L, Duwime C, Malan V, Barcia G, Vidal C, Throo E, Besmond C, Hubert L, Roland-Manuel G, Malen JP, Ferreri M, Hanein S, Thalabard JC, Boddaert N, Assouline M.
    Mol Autism; 2019; 10():33. PubMed ID: 31406558
    [Abstract] [Full Text] [Related]

  • 22. An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray.
    Bacchelli E, Cameli C, Viggiano M, Igliozzi R, Mancini A, Tancredi R, Battaglia A, Maestrini E.
    Sci Rep; 2020 Feb 21; 10(1):3198. PubMed ID: 32081867
    [Abstract] [Full Text] [Related]

  • 23.
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  • 24. Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder.
    Kim DS, Burt AA, Ranchalis JE, Wilmot B, Smith JD, Patterson KE, Coe BP, Li YK, Bamshad MJ, Nikolas M, Eichler EE, Swanson JM, Nigg JT, Nickerson DA, Jarvik GP, University of Washington Center for Mendelian Genomics.
    Am J Med Genet B Neuropsychiatr Genet; 2017 Jun 21; 174(4):381-389. PubMed ID: 28332277
    [Abstract] [Full Text] [Related]

  • 25. A Next Generation Sequencing-Based Protocol for Screening of Variants of Concern in Autism Spectrum Disorder.
    Huang J, Liu J, Tian R, Liu K, Zhuang P, Sherman HT, Budjan C, Fong M, Jeong MS, Kong XJ.
    Cells; 2021 Dec 21; 11(1):. PubMed ID: 35011571
    [Abstract] [Full Text] [Related]

  • 26. Identification of De Novo JAK2 and MAPK7 Mutations Related to Autism Spectrum Disorder Using Whole-Exome Sequencing in a Chinese Child and Adolescent Trio-Based Sample.
    Jiao J, Zhang M, Yang P, Huang Y, Hu X, Cai J, Yang C, Situ M, Zhang H, Fu L, Guo K, Huang Y.
    J Mol Neurosci; 2020 Feb 21; 70(2):219-229. PubMed ID: 31838722
    [Abstract] [Full Text] [Related]

  • 27. Neurogenetic analysis of childhood disintegrative disorder.
    Gupta AR, Westphal A, Yang DYJ, Sullivan CAW, Eilbott J, Zaidi S, Voos A, Vander Wyk BC, Ventola P, Waqar Z, Fernandez TV, Ercan-Sencicek AG, Walker MF, Choi M, Schneider A, Hedderly T, Baird G, Friedman H, Cordeaux C, Ristow A, Shic F, Volkmar FR, Pelphrey KA.
    Mol Autism; 2017 Feb 21; 8():19. PubMed ID: 28392909
    [Abstract] [Full Text] [Related]

  • 28. Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
    Husson T, Lecoquierre F, Cassinari K, Charbonnier C, Quenez O, Goldenberg A, Guerrot AM, Richard AC, Drouin-Garraud V, Brehin AC, Soleimani M, Taton R, Rotharmel M, Rosier A, Chambon P, Le Meur N, Joly-Helas G, Saugier-Veber P, Boland A, Deleuze JF, Olaso R, Frebourg T, Nicolas G, Guillin O, Campion D.
    Transl Psychiatry; 2020 Feb 24; 10(1):77. PubMed ID: 32094338
    [Abstract] [Full Text] [Related]

  • 29. Diagnostic Yield and Economic Implications of Whole-Exome Sequencing for ASD Diagnosis in Israel.
    Tal-Ben Ishay R, Shil A, Solomon S, Sadigurschi N, Abu-Kaf H, Meiri G, Flusser H, Michaelovski A, Dinstein I, Golan H, Davidovitch N, Menashe I.
    Genes (Basel); 2021 Dec 23; 13(1):. PubMed ID: 35052376
    [Abstract] [Full Text] [Related]

  • 30. Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.
    Li SJ, Yu SS, Luo HY, Li X, Rao B, Wang Y, Li ZZ, Liu G, Zou LP, Zhang JS, Feng C, Liu J, Liu JW, Hu N, Chen XQ, Yu SY, Li K, He MW, Yu XG, Wang J, Guo SL, Chen ZY, Zhang L, Ma L.
    Clin Chim Acta; 2018 Apr 23; 479():144-147. PubMed ID: 29366832
    [Abstract] [Full Text] [Related]

  • 31. Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction.
    Marco EJ, Aitken AB, Nair VP, da Gente G, Gerdes MR, Bologlu L, Thomas S, Sherr EH.
    BMC Med Genomics; 2018 May 25; 11(1):50. PubMed ID: 29801487
    [Abstract] [Full Text] [Related]

  • 32. Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome.
    Chen MJ, Wei SY, Yang WS, Wu TT, Li HY, Ho HN, Yang YS, Chen PL.
    Hum Reprod; 2015 Jul 25; 30(7):1732-42. PubMed ID: 25924657
    [Abstract] [Full Text] [Related]

  • 33. Identification of a de novo FOXP1 mutation and incidental discovery of inherited genetic variants contributing to a case of autism spectrum disorder and epilepsy.
    Jay K, Mitra A, Harding T, Matthes D, Van Ness B.
    Mol Genet Genomic Med; 2019 Jul 25; 7(7):e00751. PubMed ID: 31111659
    [Abstract] [Full Text] [Related]

  • 34. Comparison of three bioinformatics tools in the detection of ASD candidate variants from whole exome sequencing data.
    Shil A, Levin L, Golan H, Meiri G, Michaelovski A, Sadaka Y, Aran A, Dinstein I, Menashe I.
    Sci Rep; 2023 Nov 01; 13(1):18853. PubMed ID: 37914828
    [Abstract] [Full Text] [Related]

  • 35. Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
    Leppa VM, Kravitz SN, Martin CL, Andrieux J, Le Caignec C, Martin-Coignard D, DyBuncio C, Sanders SJ, Lowe JK, Cantor RM, Geschwind DH.
    Am J Hum Genet; 2016 Sep 01; 99(3):540-554. PubMed ID: 27569545
    [Abstract] [Full Text] [Related]

  • 36. Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder.
    Hashimoto R, Nakazawa T, Tsurusaki Y, Yasuda Y, Nagayasu K, Matsumura K, Kawashima H, Yamamori H, Fujimoto M, Ohi K, Umeda-Yano S, Fukunaga M, Fujino H, Kasai A, Hayata-Takano A, Shintani N, Takeda M, Matsumoto N, Hashimoto H.
    J Hum Genet; 2016 Mar 01; 61(3):199-206. PubMed ID: 26582266
    [Abstract] [Full Text] [Related]

  • 37. Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings.
    Ohashi K, Fukuhara S, Miyachi T, Asai T, Imaeda M, Goto M, Kurokawa Y, Anzai T, Tsurusaki Y, Miyake N, Matsumoto N, Yamagata T, Saitoh S.
    J Autism Dev Disord; 2021 Dec 01; 51(12):4655-4662. PubMed ID: 33590427
    [Abstract] [Full Text] [Related]

  • 38. Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan.
    Lee CL, Chuang CK, Tu RY, Chiu HC, Lo YT, Chang YH, Chen YJ, Chou CL, Wu PS, Chen CP, Lin HY, Lin SP.
    Medicina (Kaunas); 2021 Dec 22; 58(1):. PubMed ID: 35056323
    [Abstract] [Full Text] [Related]

  • 39. Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study.
    Abdi M, Aliyev E, Trost B, Kohailan M, Aamer W, Syed N, Shaath R, Gandhi GD, Engchuan W, Howe J, Thiruvahindrapuram B, Geng M, Whitney J, Syed A, Lakshmi J, Hussein S, Albashir N, Hussein A, Poggiolini I, Elhag SF, Palaniswamy S, Kambouris M, de Fatima Janjua M, Tahir MOE, Nazeer A, Shahwar D, Azeem MW, Mokrab Y, Aati NA, Akil A, Scherer SW, Kamal M, Fakhro KA.
    Genome Med; 2023 Oct 07; 15(1):81. PubMed ID: 37805537
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  • 40.
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