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The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.
López-Rivera JA, Leu C, Macnee M, Khoury J, Hoffmann L, Coras R, Kobow K, Bhattarai N, Pérez-Palma E, Hamer H, Brandner S, Rössler K, Bien CG, Kalbhenn T, Pieper T, Hartlieb T, Butler E, Genovese G, Becker K, Altmüller J, Niestroj LM, Ferguson L, Busch RM, Nürnberg P, Najm I, Blümcke I, Lal D. López-Rivera JA, et al. Among authors: becker k. Brain. 2023 Apr 19;146(4):1342-1356. doi: 10.1093/brain/awac376. Brain. 2023. PMID: 36226386 Free PMC article.
Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length.
Eckl KM, Tidhar R, Thiele H, Oji V, Hausser I, Brodesser S, Preil ML, Onal-Akan A, Stock F, Müller D, Becker K, Casper R, Nürnberg G, Altmüller J, Nürnberg P, Traupe H, Futerman AH, Hennies HC. Eckl KM, et al. Among authors: becker k. J Invest Dermatol. 2013 Sep;133(9):2202-11. doi: 10.1038/jid.2013.153. Epub 2013 Apr 2. J Invest Dermatol. 2013. PMID: 23549421 Free article.
Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia.
Dafsari HS, Sprute R, Wunderlich G, Daimagüler HS, Karaca E, Contreras A, Becker K, Schulze-Rhonhof M, Kiening K, Karakulak T, Kloss M, Horn A, Pauls A, Nürnberg P, Altmüller J, Thiele H, Assmann B, Koy A, Cirak S. Dafsari HS, et al. Among authors: becker k. J Hum Genet. 2019 Aug;64(8):803-813. doi: 10.1038/s10038-019-0625-1. Epub 2019 Jun 5. J Hum Genet. 2019. PMID: 31165786
Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia.
Dafsari HS, Sprute R, Wunderlich G, Daimagüler HS, Karaca E, Contreras A, Becker K, Schulze-Rhonhof M, Kiening K, Karakulak T, Kloss M, Horn A, Pauls A, Nürnberg P, Altmüller J, Thiele H, Assmann B, Koy A, Cirak S. Dafsari HS, et al. Among authors: becker k. J Hum Genet. 2019 Oct;64(10):1051-1054. doi: 10.1038/s10038-019-0644-y. J Hum Genet. 2019. PMID: 31388109
The genomic and clinical landscape of fetal akinesia.
Pergande M, Motameny S, Özdemir Ö, Kreutzer M, Wang H, Daimagüler HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao CM, Kawalia A, Duman Ö, Koy A, Hahn A, Reimann J, Schoner K, Schänzer A, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Haliloglu G, Topaloglu H, Altmüller J, Nürnberg P, Thiele H, Heller R, Cirak S. Pergande M, et al. Among authors: becker k. Genet Med. 2020 Mar;22(3):511-523. doi: 10.1038/s41436-019-0680-1. Epub 2019 Nov 4. Genet Med. 2020. PMID: 31680123 Free article.
Correction: The genomic and clinical landscape of fetal akinesia.
Pergande M, Motameny S, Özdemir Ö, Kreutzer M, Wang H, Daimagüler HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao CM, Kawalia A, Duman Ö, Koy A, Hahn A, Reimann J, Schoner K, Schänzer A, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Haliloglu G, Topaloglu H, Altmüller J, Nürnberg P, Thiele H, Heller R, Cirak S. Pergande M, et al. Among authors: becker k. Genet Med. 2020 Aug;22(8):1426-1428. doi: 10.1038/s41436-020-0839-9. Genet Med. 2020. PMID: 32451403 Free article.
Implementation of Amplicon Parallel Sequencing Leads to Improvement of Diagnosis and Therapy of Lung Cancer Patients.
König K, Peifer M, Fassunke J, Ihle MA, Künstlinger H, Heydt C, Stamm K, Ueckeroth F, Vollbrecht C, Bos M, Gardizi M, Scheffler M, Nogova L, Leenders F, Albus K, Meder L, Becker K, Florin A, Rommerscheidt-Fuss U, Altmüller J, Kloth M, Nürnberg P, Henkel T, Bikár SE, Sos ML, Geese WJ, Strauss L, Ko YD, Gerigk U, Odenthal M, Zander T, Wolf J, Merkelbach-Bruse S, Buettner R, Heukamp LC. König K, et al. Among authors: becker k. J Thorac Oncol. 2015 Jul;10(7):1049-57. doi: 10.1097/JTO.0000000000000570. J Thorac Oncol. 2015. PMID: 26102443 Free article.
3,758 results