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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
Exome sequencing in Nigerian children with early-onset epilepsy syndromes.
Ademuwagun IA, Adam Y, Rotimi SO, Syrbe S, Radtke M, Hentschel J, Lemke JR, Adebiyi E. Ademuwagun IA, et al. Among authors: lemke jr. Epilepsia Open. 2024 Nov 21. doi: 10.1002/epi4.13106. Online ahead of print. Epilepsia Open. 2024. PMID: 39570184 Free article.
Ligand distances as key predictors of pathogenicity and function in NMDA receptors.
Montanucci L, Brünger T, Bhattarai N, Boßelmann CM, Kim S, Allen JP, Zhang J, Klöckner C, Krey I, Fariselli P, May P, Lemke JR, Myers SJ, Yuan H, Traynelis SF, Lal D. Montanucci L, et al. Among authors: lemke jr. Hum Mol Genet. 2025 Jan 29;34(2):128-139. doi: 10.1093/hmg/ddae156. Hum Mol Genet. 2025. PMID: 39535073 Free PMC article.
Thiamine-Responsive Megaloblastic Anemia Syndrome Mimicking Myelodysplastic Neoplasm.
Klötzer C, Schnabel F, Kubasch AS, Jentzsch M, Franke GN, Uhlig J, Faust H, Jauss RT, Oppermann H, Popp D, Metzeler KH, Lemke JR, Vučinić V, Platzbecker U. Klötzer C, et al. Among authors: lemke jr. Acta Haematol. 2024 Oct 28:1-5. doi: 10.1159/000542286. Online ahead of print. Acta Haematol. 2024. PMID: 39467528 Free article.
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.
D'Abrusco F, Serpieri V, Taccagni CM, Garau J, Cattaneo L, Boggioni M, Gana S, Battini R, Bertini E, Zanni G, Boltshauser E, Borgatti R, Romaniello R, Signorini S, Leuzzi V, Caputi C, Manti F, D'Arrigo S, De Laurentiis A, Graziano C, Lemke JR, Morelli F, Petković Ramadža D, Sirchia F, Giorgio E, Valente EM. D'Abrusco F, et al. Among authors: lemke jr. Eur J Hum Genet. 2025 Jan;33(1):72-79. doi: 10.1038/s41431-024-01703-x. Epub 2024 Oct 11. Eur J Hum Genet. 2025. PMID: 39394465 Free PMC article.
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
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh TC, Engels H, Peters S, Knaus A, Moosa S, Averdunk L, Boschann F, Sczakiel HL, Schwartzmann S, Mensah MA, Pantel JT, Holtgrewe M, Bösch A, Weiß C, Weinhold N, Suter AA, Stoltenburg C, Neugebauer J, Kallinich T, Kaindl AM, Holzhauer S, Bührer C, Bufler P, Kornak U, Ott CE, Schülke M, Nguyen HHP, Hoffjan S, Grasemann C, Rothoeft T, Brinkmann F, Matar N, Sivalingam S, Perne C, Mangold E, Kreiss M, Cremer K, Betz RC, Mücke M, Grigull L, Klockgether T, Spier I, Heimbach A, Bender T, Brand F, Stieber C, Morawiec AM, Karakostas P, Schäfer VS, Bernsen S, Weydt P, Castro-Gomez S, Aziz A, Grobe-Einsler M, Kimmich O, Kobeleva X, Önder D, Lesmann H, Kumar S, Tacik P, Basin MA, Incardona P, Lee-Kirsch MA, Berner R, Schuetz C, Körholz J, Kretschmer T, Di Donato N, Schröck E, Heinen A, Reuner U, Hanßke AM, Kaiser FJ, Manka E, Munteanu M, Kuechler A, Cordula K, Hirtz R, Schlapakow E, Schlein C, Lisfeld J, Kubisch C, Herget T, Hempel M, Weiler-Normann C, Ullrich K, Schramm C, Rudolph C, Rillig F, Groffmann M, Muntau A, Tibelius A, Schwaibold EMC, Schaaf CP, Zawada M, Kaufmann L, Hinderhofer K, Okun PM, Kotzaeridou U, Hoffmann GF, Cho… See abstract for full author list ➔ Schmidt A, et al. Among authors: lemke jr. Nat Genet. 2024 Aug;56(8):1644-1653. doi: 10.1038/s41588-024-01836-1. Epub 2024 Jul 22. Nat Genet. 2024. PMID: 39039281 Free PMC article.
Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.
Mohammadi NA, Ahring PK, Yu Liao VW, Chua HC, Ortiz de la Rosa S, Johannesen KM, Michaeli-Yossef Y, Vincent-Devulder A, Meridda C, Bruel AL, Rossi A, Patel C, Klepper J, Bonanni P, Minghetti S, Trivisano M, Specchio N, Amor D, Auvin S, Baer S, Meyer P, Milh M, Salpietro V, Maroofian R, Lemke JR, Weckhuysen S, Christophersen P, Rubboli G, Chebib M, Jensen AA, Absalom NL, Møller RS. Mohammadi NA, et al. Among authors: lemke jr. EBioMedicine. 2024 Aug;106:105236. doi: 10.1016/j.ebiom.2024.105236. Epub 2024 Jul 11. EBioMedicine. 2024. PMID: 38996765 Free PMC article.
182 results