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Page 1
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online.
Macnee M, Pérez-Palma E, Brünger T, Klöckner C, Platzer K, Stefanski A, Montanucci L, Bayat A, Radtke M, Collins RL, Talkowski M, Blankenberg D, Møller RS, Lemke JR, Nothnagel M, May P, Lal D. Macnee M, et al. Among authors: nothnagel m. Bioinformatics. 2023 May 4;39(5):btad290. doi: 10.1093/bioinformatics/btad290. Bioinformatics. 2023. PMID: 37104749 Free PMC article.
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.
May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad CE, Knaus J, De Kovel C, Toliat M, Polvi A, Iacomino M, Guerrero-López R, Baulac S, Marini C, Thiele H, Altmüller J, Jabbari K, Ruppert AK, Jurkowski W, Lal D, Rusconi R, Cestèle S, Terragni B, Coombs ID, Reid CA, Striano P, Caglayan H, Siren A, Everett K, Møller RS, Hjalgrim H, Muhle H, Helbig I, Kunz WS, Weber YG, Weckhuysen S, Jonghe P, Sisodiya SM, Nabbout R, Franceschetti S, Coppola A, Vari MS, Kasteleijn-Nolst Trenité D, Baykan B, Ozbek U, Bebek N, Klein KM, Rosenow F, Nguyen DK, Dubeau F, Carmant L, Lortie A, Desbiens R, Clément JF, Cieuta-Walti C, Sills GJ, Auce P, Francis B, Johnson MR, Marson AG, Berghuis B, Sander JW, Avbersek A, McCormack M, Cavalleri GL, Delanty N, Depondt C, Krenn M, Zimprich F, Peter S, Nikanorova M, Kraaij R, van Rooij J, Balling R, Ikram MA, Uitterlinden AG, Avanzini G, Schorge S, Petrou S, Mantegazza M, Sander T, LeGuern E, Serratosa JM, Koeleman BPC, Palotie A, Lehesjoki AE, Nothnagel M, Nürnberg P, Maljevic S, Zara F, Cossette P, Krause R, Lerche H; Epicure Consortium; EuroEPINOMICS CoGIE Consortium; EpiPGX Consortiu… See abstract for full author list ➔ May P, et al. Among authors: nothnagel m. Lancet Neurol. 2018 Aug;17(8):699-708. doi: 10.1016/S1474-4422(18)30215-1. Epub 2018 Jul 17. Lancet Neurol. 2018. PMID: 30033060 Free article.
Systematic assessment of COVID-19 host genetics using whole genome sequencing data.
Schmidt A, Casadei N, Brand F, Demidov G, Vojgani E, Abolhassani A, Aldisi R, Butler-Laporte G; DeCOI host genetics group; Alawathurage TM, Augustin M, Bals R, Bellinghausen C, Berger MM, Bitzer M, Bode C, Boos J, Brenner T, Cornely OA, Eggermann T, Erber J, Feldt T, Fuchsberger C, Gagneur J, Göpel S, Haack T, Häberle H, Hanses F, Heggemann J, Hehr U, Hellmuth JC, Herr C, Hinney A, Hoffmann P, Illig T, Jensen BO, Keitel V, Kim-Hellmuth S, Koehler P, Kurth I, Lanz AL, Latz E, Lehmann C, Luedde T, Maj C, Mian M, Miller A, Muenchhoff M, Pink I, Protzer U, Rohn H, Rybniker J, Scaggiante F, Schaffeldt A, Scherer C, Schieck M, Schmidt SV, Schommers P, Spinner CD, Vehreschild MJGT, Velavan TP, Volland S, Wilfling S, Winter C, Richards JB; DeCOI; Heimbach A, Becker K, Ossowski S, Schultze JL, Nürnberg P, Nöthen MM, Motameny S, Nothnagel M, Riess O, Schulte EC, Ludwig KU. Schmidt A, et al. Among authors: nothnagel m. PLoS Pathog. 2024 Dec 23;20(12):e1012786. doi: 10.1371/journal.ppat.1012786. Online ahead of print. PLoS Pathog. 2024. PMID: 39715278 Free article.
Polygenic risk scores for nicotine use and family history of smoking are associated with smoking behaviour.
Foo JC, Völker MP, Streit F, Frank J, Zacharias N, Zillich L, Sirignano L, Nürnberg P, Wienker TF, Wagner M, Nöthen MM, Nothnagel M, Walter H, Lenz B, Spanagel R, Kiefer F, Winterer G, Rietschel M, Witt SH. Foo JC, et al. Among authors: nothnagel m. Drug Alcohol Depend. 2024 Oct 1;263:112415. doi: 10.1016/j.drugalcdep.2024.112415. Epub 2024 Aug 15. Drug Alcohol Depend. 2024. PMID: 39197361 Free article.
Exploring Paleogene Tibet's warm temperate environments through target enrichment and phylogenetic niche modelling of Himalayan spiny frogs (Paini, Dicroglossidae).
Hofmann S, Rödder D, Andermann T, Matschiner M, Riedel J, Baniya CB, Flecks M, Yang J, Jiang K, Jianping J, Litvinchuk SN, Martin S, Masroor R, Nothnagel M, Vershinin V, Zheng Y, Jablonski D, Schmidt J, Podsiadlowski L. Hofmann S, et al. Among authors: nothnagel m. Mol Ecol. 2024 Aug;33(15):e17446. doi: 10.1111/mec.17446. Epub 2024 Jul 1. Mol Ecol. 2024. PMID: 38946613
Development and evaluations of the ancestry informative markers of the VISAGE Enhanced Tool for Appearance and Ancestry.
Ruiz-Ramírez J, de la Puente M, Xavier C, Ambroa-Conde A, Álvarez-Dios J, Freire-Aradas A, Mosquera-Miguel A, Ralf A, Amory C, Katsara MA, Khellaf T, Nothnagel M, Cheung EYY, Gross TE, Schneider PM, Uacyisrael J, Oliveira S, Klautau-Guimarães MDN, Carvalho-Gontijo C, Pośpiech E, Branicki W, Parson W, Kayser M, Carracedo A, Lareu MV, Phillips C; VISAGE Consortium. Ruiz-Ramírez J, et al. Among authors: nothnagel m. Forensic Sci Int Genet. 2023 May;64:102853. doi: 10.1016/j.fsigen.2023.102853. Epub 2023 Mar 5. Forensic Sci Int Genet. 2023. PMID: 36917866 Free article.
Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores.
Ishorst N, Henschel L, Thieme F, Drichel D, Sivalingam S, Mehrem SL, Fechtner AC, Fazaal J, Welzenbach J, Heimbach A, Maj C, Borisov O, Hausen J, Raff R, Hoischen A, Dixon M, Rada-Iglesias A, Bartusel M, Rojas-Martinez A, Aldhorae K, Braumann B, Kruse T, Kirschneck C, Spanier G, Reutter H, Nowak S, Gölz L, Knapp M, Buness A, Krawitz P, Nöthen MM, Nothnagel M, Becker T, Ludwig KU, Mangold E. Ishorst N, et al. Among authors: nothnagel m. Mol Genet Genomic Med. 2023 Mar;11(3):e2109. doi: 10.1002/mgg3.2109. Epub 2022 Dec 5. Mol Genet Genomic Med. 2023. PMID: 36468602 Free PMC article.
137 results