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Publikationen

Publikationen

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Publikationen des Jahres 2021

Comprehensive Genomic and Transcriptomic Analysis for Guiding Therapeutic Decisions in Patients with Rare CancersHorak P, Heining C, Kreutzfeldt S, Hutter B, Mock A, Hullein J, Frohlich M, Uhrig S, Jahn A, Rump A, Gieldon L, Mohrmann L, Hanf D, Teleanu V, Heilig CE, Lipka DB, Allgauer M, Ruhnke L, Lassmann A, Endris V, Neumann O, Penzel R, Beck K, Richter D, Winter U, Wolf S, Pfutze K, Georg C, Meissburger B, Buchhalter I, Augustin M, Aulitzky WE, Hohenberger P, Kroiss M, Schirmacher P, Schlenk RF, Keilholz U, Klauschen F, Folprecht G, Bauer S, Siveke JT, Brandts CH, Kindler T, Boerries M, Illert AL, von Bubnoff N, Jost PJ, Spiekermann K, Bitzer M, Schulze-Osthoff K, von Kalle C, Klink B, Brors B, Stenzinger A, Schrock E, Hubschmann D, Weichert W, Glimm H, Frohling S.  Cancer Discov. 2021 Jun 10:candisc.0126.2021. doi: 10.1158/2159-8290.CD-21-0126. PMID: 34112699.

Recommendation and Acceptance of Counselling for Familial Cancer Risk in Newly Diagnosed Breast Cancer Cases. Kast K, Häfner J, Schröck E, Jahn A, Werner C, Meisel C, Wimberger P. |►| Breast Care 2021. |►| doi: 10.1159/000517021

Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay. Souto Melo U, Bonner D, Kent Lloyd K C...Di Donato N, Jahn A, Chedrawi A, Alkuraya F S, Kok F, Byers H M. Genet Med. 2021 Jan 8. PMID: 33420346

Publikationen des Jahres 2020

The landscape of chromothripsis across adult cancer types. Voronina N, Wong JKL...Jahn A, ...Lichter P, Fröhling S, Ernst A. Nat Commun. 2020 May 8;11(1):2320. PMID: 32385320

Metastatic adult pancreatoblastoma: Multimodal treatment and molecular characterization of a very rare disease. Berger AK, Mughal SS, Allgäuer M, ... Jahn A, Schröck E, ...Stenzinger A, Fröhling S, Glimm H, Heining C. Pancreatology. 2020 Apr;20(3):425-432. PMID: 32156527

Publikationen des Jahres 2019

Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches. Gieldon L, William D, Hackmann K, Jahn W, Jahn A, Wagner J, ... Schröck E, Eisenhofer G, Richter S, Klink B. Cancers (Basel). 2019 Jun 11;11(6). PMID: 31212687

Publikationen des Jahres 2018

Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness (ARKID) syndrome. Alter S, Hotz A, Jahn A, Di Donato N, ... Fischer J, Tzschach A.Am J Med Genet A. 2018 Dec;176(12):2862-2866. PMID: 30561130

Diagnostic value of partial exome sequencing in developmental disorders. Gieldon L, Mackenroth L, Kahlert AK, ... Jahn A, Kuhlee F, Hackmann K, Schrock E, Di Donato N, Rump A. PLoS One. 2018 Aug 9;13(8):e0201041. PMID: 30091983

Novel truncating PPM1D mutation in a patient with intellectual disability. Porrmann J, Rump A, Hackmann K, Di Donato N, Kahlert AK, Wagner J, Jahn A, Eger I, Flury M, Schrock E, Tzschach A, Gieldon L. Eur J Med Genet. 2018 May 11. pii: S1769-7212(18)30067-3. PMID: 29758292

Publikationen des Jahres 2017

ZBTB48 is both a vertebrate telomere-binding protein and a transcriptional activator.Jahn A*, Rane G*, Paszkowski-Rogacz M, Sayols S, Bluhm A, Han CT, Draškovič I, Londoño-Vallejo JA, Kumar AP, Buchholz F, Butter F, Kappei D. EMBO Rep. 2017 Jun;18(6):929-946. PMID:  28500257 *These authors contributed equally to this work