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Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes.
Frazier TW, Busch RM, Klaas P, Lachlan K, Jeste S, Kolevzon A, Loth E, Harris J, Speer L, Pepper T, Anthony K, Graglia JM, Delagrammatikas CG, Bedrosian-Sermone S, Smith-Hicks C, Huba K, Longyear R, Green-Snyder L, Shic F, Sahin M, Eng C, Hardan AY, Uljarević M. Frazier TW, et al. Am J Med Genet C Semin Med Genet. 2023 Sep;193(3):e32058. doi: 10.1002/ajmg.c.32058. Epub 2023 Aug 3. Am J Med Genet C Semin Med Genet. 2023. PMID: 37534867 Free PMC article.
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.
Helman G, Zarekiani P, Tromp SAM, Andrews A, Botto LD, Bonkowsky JL, Chassevent A, Giorgio E, Pippucci T, Wei S, Smith-Hicks C, Vaula G, Willemsen MAAP, Schimmel M, Vollert K, Shimizu F, Kanda T, Lynch M, Roscioli T, Taft RJ, Simons C, Bugiani M, Kuijpers TW, van der Knaap MS. Helman G, et al. Ann Neurol. 2022 Nov;92(5):895-901. doi: 10.1002/ana.26477. Epub 2022 Aug 20. Ann Neurol. 2022. PMID: 35947102
Clinical and functional consequences of GRIA variants in patients with neurological diseases.
XiangWei W, Perszyk RE, Liu N, Xu Y, Bhattacharya S, Shaulsky GH, Smith-Hicks C, Fatemi A, Fry AE, Chandler K, Wang T, Vogt J, Cohen JS, Paciorkowski AR, Poduri A, Zhang Y, Wang S, Wang Y, Zhai Q, Fang F, Leng J, Garber K, Myers SJ, Jauss RT, Park KL, Benke TA, Lemke JR, Yuan H, Jiang Y, Traynelis SF. XiangWei W, et al. Cell Mol Life Sci. 2023 Nov 3;80(11):345. doi: 10.1007/s00018-023-04991-6. Cell Mol Life Sci. 2023. PMID: 37921875 Free PMC article.
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.
Calhoun JD, Aziz MC, Happ HC, Gunti J, Gleason C, Mohamed N, Zeng K, Hiller M, Bryant E, Mithal DS, Bellinski I, Kinsley L, Grimmel M, Schwaibold EMC, Smith-Hicks C, Chassevent A, Scala M, Accogli A, Torella A, Striano P, Capra V, Bird LM, Ben-Sahra I, Ekhilevich N, Hershkovitz T, Weiss K, Millichap J, Gerard EE, Carvill GL. Calhoun JD, et al. Brain. 2022 Jun 30;145(6):1939-1948. doi: 10.1093/brain/awab451. Brain. 2022. PMID: 35773235 Free PMC article.
De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.
Djordjevic D, Pinard M, Gauthier MS, Smith-Hicks C, Hoffman TL, Wolf NI, Oegema R, van Binsbergen E, Baskin B, Bernard G, Fribourg S, Coulombe B, Yoon G. Djordjevic D, et al. Am J Hum Genet. 2022 Apr 7;109(4):759-763. doi: 10.1016/j.ajhg.2022.03.006. Am J Hum Genet. 2022. PMID: 35395209 Free PMC article. No abstract available.
54 results