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Gruppiert nach: Dokumententyp | Veröffentlichungsdatum
Anzahl der Publikationen: 10

Zeitschriftenartikel

Abicht, Angela; Schön, Ulrike; Laner, Andreas; Holinski-Feder, Elke und Diebold, Isabel (2021): Actionable secondary findings in arrhythmogenic right ventricle cardiomyopathy genes: impact and challenge of genetic counseling. In: Cardiovascular Diagnosis and Therapy, Bd. 11, Nr. 2: 637-

Schön, Ulrike; Holzer, Anna; Laner, Andreas; Kleinle, Stephanie; Scharf, Florentine; Benet-Pages, Anna; Peschel, Oliver; Holinski-Feder, Elke und Diebold, Isabel (2021): HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death. In: BMC Medical Genomics, Bd. 14, Nr. 1, 94

Diebold, Isabel; Schoen, Ulrike; Scharf, Florentine; Benet-Pages, Anna; Laner, Andreas; Holinski-Feder, Elke und Abicht, Angela (2020): Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes. In: Human Mutation, Bd. 41, Nr. 5: S. 1025-1032

Morak, Monika; Steinke-Lange, Verena; Massdorf, Trisari; Benet-Pages, Anna; Locher, Melanie; Laner, Andreas; Kayser, Katrin; Aretz, Stefan und Holinski-Feder, Elke (2020): Prevalence of CNV-neutral structural genomic rearrangements in MLH1, MSH2, and PMS2 not detectable in routine NGS diagnostics. In: Familial Cancer, Bd. 19, Nr. 2: S. 161-167

Arnold, Anke Marie; Morak, Monika; Benet-Pages, Anna; Laner, Andreas; Frishman, Dimitrij und Holinski-Feder, Elke (2020): Targeted deep-intronic sequencing in a cohort of unexplained cases of suspected Lynch syndrome. In: European Journal of Human Genetics, Bd. 28, Nr. 5: S. 597-608

Morak, Monika; Schäfer, Kerstin; Steinke-Lange, Verena; Köhler, Udo; Keinath, Susanne; Massdorf, Trisari; Mauracher, Brigitte; Rahner, Nils; Bailey, Jessica; Kling, Christiane; Haeusser, Tanja; Laner, Andreas und Holinski-Feder, Elke (2019): Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes. In: European Journal of Human Genetics, Bd. 27, Nr. 12: S. 1808-1820

Morak, Monika; Käsbauer, Sarah; Kerscher, Martina; Massdorf, Trisari; Holinski-Feder, Elke; Laner, Andreas; Nissen, Anke M.; Benet-Pages, Anna; Schackert, Hans K. und Keller, Gisela (2017): Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6. In: Familial Cancer, Bd. 16, Nr. 4: S. 491-500

Spier, Isabel; Kerick, Martin; Drichel, Dmitriy; Horpaopan, Sukanya; Altmüller, Janine; Laner, Andreas; Holzapfel, Stefanie; Peters, Sophia; Adam, Ronja; Zhao, Bixiao; Becker, Tim; Lifton, Richard P.; Holinski-Feder, Elke; Perner, Sven; Thiele, Holger; Nöthen, Markus M.; Hoffmann, Per; Timmermann, Bernd; Schweiger, Michal R. und Aretz, Stefan (2016): Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis. In: Familial Cancer, Bd. 15, Nr. 2: S. 281-288

Spier, Isabel; Drichel, Dmitriy; Kerick, Martin; Kirfel, Jutta; Horpaopan, Sukanya; Laner, Andreas; Holzapfel, Stefanie; Peters, Sophia; Adam, Ronja; Zhao, Bixiao; Becker, Tim; Lifton, Richard P.; Perner, Sven; Hoffmann, Per; Kristiansen, Glen; Timmermann, Bernd; Nöthen, Markus M.; Holinski-Feder, Elke; Schweiger, Michal R. und Aretz, Stefan (2016): Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases. In: Journal of Medical Genetics, Bd. 53, Nr. 3: S. 172-179 [PDF, 1MB]

Adam, Ronja; Spier, Isabel; Zhao, Bixiao; Kloth, Michael; Marquez, Jonathan; Hinrichsen, Inga; Kirfel, Jutta; Tafazzoli, Aylar; Horpaopan, Sukanya; Uhlhaas, Siegfried; Stienen, Dietlinde; Friedrichs, Nicolaus; Altmueller, Janine; Laner, Andreas; Holzapfel, Stefanie; Peters, Sophia; Kayser, Katrin; Thiele, Holger; Holinski-Feder, Elke; Marra, Giancarlo; Kristiansen, Glen; Nöthen, Markus M.; Buettner, Reinhard; Möslein, Gabriela; Betz, Regina C.; Brieger, Angela; Lifton, Richard P. und Aretz, Stefan (2016): Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. In: American Journal of Human Genetics, Bd. 99, Nr. 2: S. 337-351

Diese Liste wurde am Sat Mar 23 19:10:41 2024 CET erstellt.