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以下是曼顿中心团队和同事的一些最新出版物。
请确保还要查看曼顿中心的出版档案for other great reads!

Recent Manton Center Publications

  • Genomic approaches to trace the history of human brain evolution with an emerging opportunity for transposon profiling of ancient humans.
    Wang Y，Zhao B，Choi J，Lee EA。
    Mob DNA. 2021 Oct 18;12(1):22. doi: 10.1186/s13100-021-00250-2.
  • Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
    De La Vega FM, Chowdhury S, Moore B, Frise E, McCarthy J, Hernandez EJ, Wong T, James K, Guidugli L, Agrawal PB, Genetti CA, Brownstein CA, Beggs AH, Löscher BS, Franke A, Boone B,Levy SE，Unap K，Pajusalu S，Huentelman M，Ramsey K，Naymik M，Narayanan V，Veeraraghavan N，Billings P，Reese MG，Reese MG，Yandell M，Kingsmore SF。
    Genome Med. 2021 Oct 14;13(1):153. doi: 10.1186/s13073-021-00965-0.
  • ARFGEF1的单倍不足与发育延迟，智力障碍和具有可变表达性的癫痫有关。
    Thomas Q, Gautier T, Marafi D, Besnard T, Willems M, Moutton S, Isidor B, Cogné B, Conrad S, Tenconi R, Iascone M, Sorlin A, Masurel A, Dabir T, Jackson A, Banka S, Delanne J, Lupski JR, Saadi NW, Alkuraya FS, Zahrani FA, Agrawal PB, England E, Madden JA, Posey JE, Burglen L, Rodriguez D, Chevarin M, Nguyen S, Mau-Them FT, Duffourd Y, Garret P, Bruel AL, Callier P, Marle N, Denomme-Pichon AS, Duplomb L, Philippe C, Thauvin-Robinet C, Govin J, Faivre L, Vitobello A.
    基因医学。2021年10月; 23（10）：1901-1911。doi：10.1038/s41436-021-01218-6。Epub 2021 Jun 10. PMID：34113008
  • 衔接蛋白复合物4相关遗传痉挛性截瘫中脑MRI发现的系统分析。
    Ebrahimi-Fakhari D, Alecu JE, Ziegler M, Geisel G, Jordan C, D'Amore A, Yeh RC, Akula SK, Saffari A, Prabhu SP, Sahin M, Yang E; International AP-4-HSP Registry and Natural History Study. Neurology. 2021 Sep 20:10.1212 PMID: 34544818
  • Directed evolution of a family of AAV capsid variants enabling potent muscle-directed gene delivery across species.
    Tabebordbar M，Lagerborg KA，Stanton A，King EM，YE S，Telelez L，Krunnfusz A，Tavakoli S，Widrick JJ，Messemer KA，Troiano EC，Moghadaszadeh B，Peacker bl，Peacock ka，leacock ka，leacock ka，leacock ka，horwitz n，horwitz n，beggs ah ah ah ah ah ah ah ah ah ah ah ah ah ah ah，，Sabeti PC。
    Cell. 2021 Sep 16;184(19):4919-4938.e22. doi: 10.1016/j.cell.2021.08.028. Epub 2021 Sep 9. PMID: 34506722
  • Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
    Yabumoto M，Kianmahd J，Singh M，Palafox MF，Wei A，Elliott K，Goodloe DH，Goodloe DH，Dean SJ，Gooch C，Murray BK，Swartz E，Schrier Vergano SA，Towne MC，Nugent K，Roeder k，Roeder er，Kresge C，Pletcher C，Pletcher C，Pletcher C，PletcherBA，Grand K，Graham JM JR，Gates R，Gomez-Ospina N，Ramanathan S，Clark RD，Glaser K，Benke PJ，Cohen JS，Fatemi A，Mu W，Baranano KW，Baranano KW，Madden JA，Gubels JA，Gubbels CS，Yu TW，YU TW，YU TW，YU TW，YU TW，YU TW，YU TW，YU TW，YU TW，YU TW，YU TW，YU TW，Agrawal PB，Chambers MK，Phornphutkul C，Pugh JA，Tauber KA，Azova S，Smith Jr，O'Donnell-Luria A，Medsker H，Srivastava S，Krakow D，Krakow D，Schweitzer DN，Schweitzer DN，Arboleda VA。
    Mol Genet Genomic Med. 2021 Sep 14:e1809. doi: 10.1002/mgg3.1809. PMID: 34519438
  • 儿童多系统炎症综合征的遗传敏感性的基础机制（MIS-C）.
    Chou J, Platt CD, Habiballah S, Nguyen AA, Elkins M, Weeks S, Peters Z, Day-Lewis M, Novak T, Armant M, Williams L, Rockowitz S, Sliz P, Williams DA, Randolph AG, Geha RS; Taking on COVID-19 Together Study Investigators.
    J Allergy Clin Immunol. 2021 Sep;148(3):732-738.e1. doi: 10.1016/j.jaci.2021.06.024. Epub 2021 Jul 2.
  • Rewiring of human neurodevelopmental gene regulatory programs by human accelerated regions.
    Girskis KM, Stergachis AB, DeGennaro EM, Doan RN, Qian X, Johnson MB, Wang PP, Sejourne GM, Nagy MA, Pollina EA, Sousa AMM, Shin T, Kenny CJ, Scotellaro JL, Debo BM, Gonzalez DM, Rento LM, Yeh RC, Song JHT, Beaudin M, Fan J, Kharchenko PV, Sestan N, Greenberg ME, Walsh CA.
    神经元。2021年8月25日：S0896-6273（21）00580-8。doi：10.1016/j.neuron.2021.08.005。PMID：34478631
  • Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial.
    Pereira S, Smith HS, Frankel LA, Christensen KD, Islam R, Robinson JO, Genetti CA, Blout Zawatsky CL, Zettler B, Parad RB, Waisbren SE, Beggs AH, Green RC, Holm IA, McGuire AL; BabySeq Project Team.
    贾马丘脑。2021年8月23日：E212829。doi：10.1001/jamapediatrics.2021.2829。PMID：34424265
  • A synonymous coding variant that alters ALAS2 splicing and causes X-linked sideroblastic anemia.
    Oakley JH，Campagna DR，Sun L，Rockowitz S，Sliz P，Boudreaux J，Woods G，Fleming MD。
    小儿血液癌。2021年8月19日：E29309。doi：10.1002/pbc.29309。PMID：34411431
  • Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
    Duncan AR，Polovitskaya MM，Gaitán-PeñasH，Bertelli S，Vannoy GE，Grant PE，O'Donnell-Luria A，Valivullah Z，Lovgren AK，England EM，Agolini E，Madden JA，Schmitz-Abe K，Kritzer K，Kritzer a，Kritzer A，Hawley P，Novelli A，Alfieri P，Colafati GS，Wieczorek D，Platzer K，Luppe J，Koch-Hogrebe M，Abou Jamra R，Neira-Fresneda J，Lehman J，Lehman A，Boerkoel CF，Seath K，Clarke L;原因研究，Van Ierland Y，Argilli E，Sherr EH，Maiorana A，Diel T，Hempel M，Bierhals T，EstévezR，Jentsch TJ，Pusch M，Pusch M，Agrawal PB。
    Am J Hum Genet. 2021 Aug 5;108(8):1450-1465. doi: 10.1016/j.ajhg.2021.06.003. Epub 2021 Jun 28. PMID: 34186028

此页面最后更新于2021年10月21日。
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