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Journal Abstract Search

753 related items for PubMed ID: 31723249

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  • 23. Targeted sequencing identifies risk variants in 202 candidate genes for neurodevelopmental disorders.
    Pang N, Li K, Tan S, Chen M, He F, Chen C, Yang L, Zhang C, Deng X, Yang L, Mao L, Wang G, Duan H, Wang X, Zhang W, Guo H, Peng J, Yin F, Xia K.
    Gene; 2024 Mar 01; 897():148071. PubMed ID: 38081334
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  • 27. Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
    Hiatt SM, Thompson ML, Prokop JW, Lawlor JMJ, Gray DE, Bebin EM, Rinne T, Kempers M, Pfundt R, van Bon BW, Mignot C, Nava C, Depienne C, Kalsner L, Rauch A, Joset P, Bachmann-Gagescu R, Wentzensen IM, McWalter K, Cooper GM.
    Am J Hum Genet; 2019 Apr 04; 104(4):701-708. PubMed ID: 30879638
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  • 29. De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
    Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, Bruel AL, Buchert R, Calpena E, Cogné B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, Haack TB, Harrison V, Henderson A, Hunt D, Isidor B, Joset P, Kumada S, Lachmeijer AMA, Lees M, Lynch SA, Martinez F, Matsumoto N, McDougall C, Mefford HC, Miyake N, Myers CT, Moutton S, Nesbitt A, Novelli A, Orellana C, Rauch A, Rosello M, Saida K, Santani AB, Sarkar A, Scheffer IE, Shinawi M, Steindl K, Symonds JD, Zackai EH, University of Washington Center for Mendelian Genomics, DDD StudyWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Reis A, Sticht H, Zweier C.
    Am J Hum Genet; 2018 Aug 02; 103(2):305-316. PubMed ID: 30057029
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  • 30. 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
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  • 31. 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 24; 7(7):e00751. PubMed ID: 31111659
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  • 34. Exome Pool-Seq in neurodevelopmental disorders.
    Popp B, Ekici AB, Thiel CT, Hoyer J, Wiesener A, Kraus C, Reis A, Zweier C.
    Eur J Hum Genet; 2017 Dec 24; 25(12):1364-1376. PubMed ID: 29158550
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  • 35. Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder.
    Khan H, Harripaul R, Mikhailov A, Herzi S, Bowers S, Ayub M, Shabbir MI, Vincent JB.
    Sci Rep; 2024 Apr 22; 14(1):9230. PubMed ID: 38649688
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  • 36. De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
    Brunet T, Jech R, Brugger M, Kovacs R, Alhaddad B, Leszinski G, Riedhammer KM, Westphal DS, Mahle I, Mayerhanser K, Skorvanek M, Weber S, Graf E, Berutti R, Necpál J, Havránková P, Pavelekova P, Hempel M, Kotzaeridou U, Hoffmann GF, Leiz S, Makowski C, Roser T, Schroeder SA, Steinfeld R, Strobl-Wildemann G, Hoefele J, Borggraefe I, Distelmaier F, Strom TM, Winkelmann J, Meitinger T, Zech M, Wagner M.
    Clin Genet; 2021 Jul 22; 100(1):14-28. PubMed ID: 33619735
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  • 37. Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.
    Chérot E, Keren B, Dubourg C, Carré W, Fradin M, Lavillaureix A, Afenjar A, Burglen L, Whalen S, Charles P, Marey I, Heide S, Jacquette A, Heron D, Doummar D, Rodriguez D, Billette de Villemeur T, Moutard ML, Guët A, Xavier J, Périsse D, Cohen D, Demurger F, Quélin C, Depienne C, Odent S, Nava C, David V, Pasquier L, Mignot C.
    Clin Genet; 2018 Mar 22; 93(3):567-576. PubMed ID: 28708303
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  • 38. New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.
    Bruno LP, Doddato G, Valentino F, Baldassarri M, Tita R, Fallerini C, Bruttini M, Lo Rizzo C, Mencarelli MA, Mari F, Pinto AM, Fava F, Fabbiani A, Lamacchia V, Carrer A, Caputo V, Granata S, Benetti E, Zguro K, Furini S, Renieri A, Ariani F.
    Int J Mol Sci; 2021 Dec 14; 22(24):. PubMed ID: 34948243
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