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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A, Gibbons M, Yang M, Desguerre I, Boddaert N, Gitiaux C, Rydning SL, Selmer KK, Urreizti R, Garcia-Oguiza A, Osorio AN, Verdura E, Pujol A, McCurry HR, Landers JE, Agnihotri S, Andriescu EC, Moody SB, Phornphutkul C, Sacoto MJG, Begtrup A, Houlden H, Kirschner J, Schorling D, Rudnik-Schöneborn S, Strom TM, Leiz S, Juliette K, Richardson R, Yang Y, Zhang Y, Wang M, Wang J, Wang X, Platzer K, Donkervoort S, Bönnemann CG, Wagner M, Issa MY, Elbendary HM, Stanley V, Maroofian R, Gleeson JG, Zaki MS, Senderek J, Pandey UB. Kour S, et al. Among authors: wang x, wang j, wang m. Nat Commun. 2021 May 7;12(1):2558. doi: 10.1038/s41467-021-22627-w. Nat Commun. 2021. PMID: 33963192 Free PMC article.
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.
Fry AE, Marra C, Derrick AV, Pickrell WO, Higgins AT, Te Water Naude J, McClatchey MA, Davies SJ, Metcalfe KA, Tan HJ, Mohanraj R, Avula S, Williams D, Brady LI, Mesterman R, Tarnopolsky MA, Zhang Y, Yang Y, Wang X; Genomics England Research Consortium; Rees MI, Goldfarb M, Chung SK. Fry AE, et al. Among authors: wang x. Am J Hum Genet. 2021 Jan 7;108(1):176-185. doi: 10.1016/j.ajhg.2020.10.017. Epub 2020 Nov 26. Am J Hum Genet. 2021. PMID: 33245860 Free PMC article.
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Järvelä I, Lauronen L, Määttä T, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya SM, Harrison V, Sun A, Thies J, Pedroza LA, Lara-Taranchenko Y, Chinn IK, Lupski JR, Garza-Flores A, McGlothlin J, Yang L, Huang S, Wang X, Jewett T, Rosso G, Lin X, Mohammed S, Merritt JL 2nd, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TM, Pastore MT, McBride KL, Peng J, Pan Z, Willemsen M, Koning S, Turnpenny PD, de Vries BBA, Gilissen C, Pfundt R, Lees M, Braddock SR, Klemp KC, Vansenne F, van Gijn ME, Quindipan C, Deardorff MA, Hamm JA, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZ, Alders M, Kerkhof J, McConkey H, Haghshenas S; Genomics England Research Consortium; Maroofian R, Sadikovic B, Banka S, Arold ST, Barakat TS. Weerts MJA, et al. Among authors: wang x. Genet Med. 2021 Nov;23(11):2122-2137. doi: 10.1038/s41436-021-01246-2. Epub 2021 Aug 3. Genet Med. 2021. PMID: 34345025 Free PMC article.
Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay.
Jiao X, Morleo M, Nigro V, Torella A, D'Arrigo S, Ciaccio C, Pantaleoni C, Gong P, Grand K, Sanchez-Lara PA, Krier J, Fieg E, Stergachis A, Wang X, Yang Z. Jiao X, et al. Among authors: wang x. Front Pharmacol. 2020 Dec 18;11:599191. doi: 10.3389/fphar.2020.599191. eCollection 2020. Front Pharmacol. 2020. PMID: 33390987 Free PMC article.
Astrocytic GABA transporter 1 deficit in novel SLC6A1 variants mediated epilepsy: Connected from protein destabilization to seizures in mice and humans.
Mermer F, Poliquin S, Zhou S, Wang X, Ding Y, Yin F, Shen W, Wang J, Rigsby K, Xu D, Mack T, Nwosu G, Flamm C, Stein M, Kang JQ. Mermer F, et al. Among authors: wang x, wang j. Neurobiol Dis. 2022 Oct 1;172:105810. doi: 10.1016/j.nbd.2022.105810. Epub 2022 Jul 14. Neurobiol Dis. 2022. PMID: 35840120 Free PMC article.
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