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Page 1
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
Allen JP, Garber KB, Perszyk R, Khayat CT, Kell SA, Kaneko M, Quindipan C, Saitta S, Ladda RL, Hewson S, Inbar-Feigenberg M, Prasad C, Prasad AN, Olewiler L, Mu W, Rosenthal LS, Scala M, Striano P, Zara F, McCullock TW, Jauss RT, Lemke JR, MacLean DM, Zhu C, Yuan H, Myers SJ, Traynelis SF. Allen JP, et al. Among authors: lemke jr. Hum Mol Genet. 2024 Feb 1;33(4):355-373. doi: 10.1093/hmg/ddad188. Hum Mol Genet. 2024. PMID: 37944084 Free PMC article.
Distances from ligands as main predictive features for pathogenicity and functional effect of variants in NMDA receptors.
Montanucci L, Brünger T, Bhattarai N, Boßelmann CM, Kim S, Allen JP, Zhang J, Klöckner C, Fariselli P, May P, Lemke JR, Myers SJ, Yuan H, Traynelis SF, Lal D. Montanucci L, et al. Among authors: lemke jr. medRxiv [Preprint]. 2024 May 7:2024.05.06.24306939. doi: 10.1101/2024.05.06.24306939. medRxiv. 2024. PMID: 38766179 Free PMC article. Preprint.
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Syrbe S, Hedrich UBS, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M, Serratosa JM, Nothnagel M, May P, Krause R, Löffler H, Detert K, Dorn T, Vogt H, Krämer G, Schöls L, Mullis PE, Linnankivi T, Lehesjoki AE, Sterbova K, Craiu DC, Hoffman-Zacharska D, Korff CM, Weber YG, Steinlin M, Gallati S, Bertsche A, Bernhard MK, Merkenschlager A, Kiess W; EuroEPINOMICS RES consortium; Gonzalez M, Züchner S, Palotie A, Suls A, De Jonghe P, Helbig I, Biskup S, Wolff M, Maljevic S, Schüle R, Sisodiya SM, Weckhuysen S, Lerche H, Lemke JR. Syrbe S, et al. Among authors: lemke jr. Nat Genet. 2015 Apr;47(4):393-399. doi: 10.1038/ng.3239. Epub 2015 Mar 9. Nat Genet. 2015. PMID: 25751627 Free PMC article.
Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control study.
Cerulli Irelli E, Fanella M, Chaumette B, Putotto C, Mignot C, Mazzeo A, Lemke JR, Riva A, Accinni T, Louveau C, Giovannetti A, Pugnaloni F, Gavaret M, Di Fabio F, Fortunato F, Dorn T, Ferlazzo E, Gambardella A, Ramantani G, Orlando B, Iftimovici A, Operto FF, Pulvirenti F, Kluger G, Caputo V, Striano P, Di Bonaventura C. Cerulli Irelli E, et al. Among authors: lemke jr. Epilepsia. 2024 Dec 24. doi: 10.1111/epi.18220. Online ahead of print. Epilepsia. 2024. PMID: 39718534
Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension.
Postma AV, Rapp CK, Knoflach K, Volk AE, Lemke JR, Ackermann M, Regamey N, Latzin P, Celant L, Jansen SMA, Bogaard HJ, Ilgun A, Alders M, van Spaendonck-Zwarts KY, Jonigk D, Klein C, Gräf S, Kubisch C, Houweling AC, Griese M. Postma AV, et al. Among authors: lemke jr. Genet Med Open. 2023;1(1):100811. doi: 10.1016/j.gimo.2023.100811. Genet Med Open. 2023. PMID: 38230350 Free PMC article.
The role of rare genetic variants enrichment in epilepsies of presumed genetic etiology.
Bundalian L, Su YY, Chen S, Velluva A, Kirstein AS, Garten A, Biskup S, Battke F, Lal D, Heyne HO, Platzer K, Lin CC, Lemke JR, Le Duc D; Epi25 Collaborative. Bundalian L, et al. Among authors: lemke jr. medRxiv [Preprint]. 2023 Mar 10:2023.01.17.23284702. doi: 10.1101/2023.01.17.23284702. medRxiv. 2023. Update in: Am J Hum Genet. 2023 Jul 6;110(7):1110-1122. doi: 10.1016/j.ajhg.2023.06.004 PMID: 36974069 Free PMC article. Updated. Preprint.
Precision Medicine in Angelman Syndrome.
Manssen L, Krey I, Gburek-Augustat J, von Hagen C, Lemke JR, Merkenschlager A, Weigand H, Makowski C. Manssen L, et al. Among authors: lemke jr. Neuropediatrics. 2024 Sep 28. doi: 10.1055/a-2399-0191. Online ahead of print. Neuropediatrics. 2024. PMID: 39168152
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Jedraszak G, Jobic F, Receveur A, Bilan F, Gilbert-Dussardier B, Tiffany B, Missirian C, Willems M, Odent S, Lucas J, Dubourg C, Schaefer E, Scheidecker S, Lespinasse J, Goldenberg A, Guerrot AM, Joly-Helas G, Chambon P, Le Caignec C, David A, Coutton C, Satre V, Vieville G, Amblard F, Harbuz R, Sanlaville D, Till M, Vincent-Delorme C, Colson C, Andrieux J, Naudion S, Toutain J, Rooryck C, de Fréminville B, Prieur F, Daire VC, Amram D, Kleinfinger P, Raabe-Meyer G, Courage C, Lemke J, Stefanou EG, Loretta T, Emmanouil M, Tzeli SK, Sodowska H, Anderson J, Nandini A, Copin H, Garçon L, Liehr T, Morin G. Jedraszak G, et al. Am J Med Genet A. 2024 Apr;194(4):e63476. doi: 10.1002/ajmg.a.63476. Epub 2023 Nov 16. Am J Med Genet A. 2024. PMID: 37974505
183 results