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  • IRF2BPL Is Associated with Neurological Phenotypes

    Marcogliese P, Shashi V, Spillmann R, Stong N, Rosenfeld J, Koenig M, Martínez-Agosto J, Herzog M, Chen A, Dickson P, Lin H, Vera M, Salamon N, Graham J, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung H, Zuo Z, Lee P, Kanca O, Xia F, Yang Y, Smith E, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl D, Golden-Grant K, Diseases P, Callens S, Coucke P, Dermaut B, Hemelsoet D, Poppe B, Steyaert W, Terryn W, Van Coster R, Network U, Adams D, Alejandro M, Allard P, Azamian M, Bacino C, Balasubramanyam A, Barseghyan H, Batzli G, Beggs A, Behnam B, Bican A, Bick D, Birch C, Bonner D, Boone B, Bostwick B, Briere L, Brown D, Brush M, Burke E, Burrage L, Chen S, Clark G, Coakley T, Cogan J, Cooper C, Cope H, Craigen W, D’Souza P, Davids M, Dayal J, Dell’Angelica E, Dhar S, Dillon A, Dipple K, Donnell-Fink L, Dorrani N, Dorset D, Douine E, Draper D, Eckstein D, Emrick L, Eng C, Eskin A, Esteves C, Estwick T, Ferreira C, Fogel B, Friedman N, Gahl W, Glanton E, Godfrey R, Goldstein D, Gould S, Gourdine J, Groden C, Gropman A, Haendel M, Hamid R, Hanchard N, Handley L, Herzog M, Holm I, Hom J, Howerton E, Huang Y, Jacob H, Jain M, Jiang Y, Johnston J, Jones A, Kohane I, Krasnewich D, Krieg E, Krier J, Lalani S, Lau C, Lazar J, Lee B, Lee H, Levy S, Lewis R, Lincoln S, Lipson A, Loo S, Loscalzo J, Maas R, Macnamara E, MacRae C, Maduro V, Majcherska M, Malicdan M, Mamounas L, Manolio T, Markello T, Marom R, Martínez-Agosto J, Marwaha S, May T, McConkie-Rosell A, McCormack C, McCray A, Might M, Moretti P, Morimoto M, Mulvihill J, Murphy J, Muzny D, Nehrebecky M, Nelson S, Newberry J, Newman J, Nicholas S, Novacic D, Orange J, Pallais J, Palmer C, Papp J, Parker N, Pena L, Phillips J, Posey J, Postlethwait J, Potocki L, Pusey B, Reuter C, Robertson A, Rodan L, Rosenfeld J, Sampson J, Samson S, Schoch K, Schroeder M, Scott D, Sharma P, Shashi V, Signer R, Silverman E, Sinsheimer J, Smith K, Spillmann R, Splinter K, Stoler J, Stong N, Sullivan J, Sweetser D, Tifft C, Toro C, Tran A, Urv T, Valivullah Z, Vilain E, Vogel T, Wahl C, Walley N, Walsh C, Ward P, Waters K, Westerfield M, Wise A, Wolfe L, Worthey E, Yamamoto S, Yang Y, Yu G, Zastrow D, Zheng A, Yamamoto S, Wangler M, Mirzaa G, Hemelsoet D, Lee B, Nelson S, Goldstein D, Bellen H, Pena L. IRF2BPL Is Associated with Neurological Phenotypes. American Journal Of Human Genetics 2018, 103: 245-260. PMID: 30057031, PMCID: PMC6081494, DOI: 10.1016/j.ajhg.2018.07.006.
    Peer-Reviewed Original Research
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