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696 results

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Page 1
Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.
Abdel-Salam GMH, Hellmuth S, Gradhand E, Käseberg S, Winter J, Pabst AS, Eid MM, Thiele H, Nürnberg P, Budde BS, Toliat MR, Brecht IB, Schroeder C, Gschwind A, Ossowski S, Häuser F, Rossmann H, Abdel-Hamid MS, Hegazy I, Mohamed AG, Schneider DT, Bertoli-Avella A, Bauer P, Pearring JN, Pfundt R, Hoischen A, Gilissen C, Strand D, Zechner U, Tashkandi SA, Faqeih EA, Stemmann O, Strand S, Bolz HJ. Abdel-Salam GMH, et al. Among authors: nurnberg p. JCI Insight. 2023 Nov 22;8(22):e170079. doi: 10.1172/jci.insight.170079. JCI Insight. 2023. PMID: 37796616 Free PMC article.
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.
Nuzhat N, Van Schil K, Liakopoulos S, Bauwens M, Rey AD, Käseberg S, Jäger M, Willer JR, Winter J, Truong HM, Gruartmoner N, Van Heetvelde M, Wolf J, Merget R, Grasshoff-Derr S, Van Dorpe J, Hoorens A, Stöhr H, Mansard L, Roux AF, Langmann T, Dannhausen K, Rosenkranz D, Wissing KM, Van Lint M, Rossmann H, Häuser F, Nürnberg P, Thiele H, Zechner U, Pearring JN, De Baere E, Bolz HJ. Nuzhat N, et al. Among authors: nurnberg p. J Clin Invest. 2023 Apr 17;133(8):e161156. doi: 10.1172/JCI161156. J Clin Invest. 2023. PMID: 36862503 Free PMC article.
Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum.
Schmidt J, Dreha-Kulaczewski S, Zafeiriou MP, Schreiber MK, Wilken B, Funke R, Neuhofer CM, Altmüller J, Thiele H, Nürnberg P, Biskup S, Li Y, Zimmermann WH, Kaulfuß S, Yigit G, Wollnik B. Schmidt J, et al. Among authors: nurnberg p. Front Cell Dev Biol. 2022 Nov 16;10:1025332. doi: 10.3389/fcell.2022.1025332. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 36467423 Free PMC article.
The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans.
Ahmad I, Lokau J, Kespohl B, Malik NA, Baig SM, Hartig R, Behme D, Schwab R, Altmüller J, Jameel M, Mucha S, Thiele H, Tariq M, Nürnberg P, Erdmann J, Garbers C. Ahmad I, et al. Among authors: nurnberg p. Sci Rep. 2023 Aug 18;13(1):13479. doi: 10.1038/s41598-023-39466-y. Sci Rep. 2023. PMID: 37596289 Free PMC 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: nurnberg p. 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.
Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR.
Boßelmann CM, Leu C, Brünger T, Hoffmann L, Baldassari S, Chipaux M, Coras R, Kobow K, Hamer H, Delev D, Rössler K, Bien CG, Kalbhenn T, Pieper T, Hartlieb T, Becker K, Ferguson L, Busch RM, Baulac S, Nürnberg P, Najm I, Blümcke I, Lal D. Boßelmann CM, et al. Among authors: nurnberg p. Nat Commun. 2024 Nov 30;15(1):10429. doi: 10.1038/s41467-024-54911-w. Nat Commun. 2024. PMID: 39616148 Free PMC article.
Circulating Tumor DNA Sequencing for Biologic Classification and Individualized Risk Stratification in Patients With Hodgkin Lymphoma.
Heger JM, Mammadova L, Mattlener J, Sobesky S, Cirillo M, Altmüller J, Kirst E, Reinke S, Klapper W, Bröckelmann PJ, Ferdinandus J, Kaul H, Schneider G, Schneider J, Schleifenbaum JK, Ullrich RT, Freihammer M, Awerkiew S, Lohmann M, Klein F, Nürnberg P, Hallek M, Rossi D, Mauz-Körholz C, Gattenlöhner S, Bräuninger A, Borchmann P, von Tresckow B, Borchmann S. Heger JM, et al. Among authors: nurnberg p. J Clin Oncol. 2024 Dec 10;42(35):4218-4230. doi: 10.1200/JCO.23.01867. Epub 2024 Sep 30. J Clin Oncol. 2024. PMID: 39348625
TERT Expression and Clinical Outcome in Pulmonary Carcinoids.
Werr L, Bartenhagen C, Rosswog C, Cartolano M, Voegele C, Sexton-Oates A, Di Genova A, Ernst A, Kahlert Y, Hemstedt N, Höppner S, Mansuet Lupo A, Pelosi G, Brcic L, Papotti M, George J, Bosco G, Quaas A, Tang LH, Robzyk K, Kadota K, Roh MS, Fanaroff RE, Falcon CJ, Büttner R, Lantuejoul S, Rekhtman N, Rudin CM, Travis WD, Alcala N, Fernandez-Cuesta L, Foll M, Peifer M, Thomas RK, Fischer M; Lung NEN Network. Werr L, et al. J Clin Oncol. 2024 Sep 30:JCO2302708. doi: 10.1200/JCO.23.02708. Online ahead of print. J Clin Oncol. 2024. PMID: 39348606
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: nurnberg p. 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.
696 results