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Eine Ebene nach oben |
Gruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 15
2022
Neuhann, Teresa M.; Haub, Katharina; Steinke-Lange, Verena; Morak, Monika; Laner, Andreas; Locher, Melanie und Holinski-Feder, Elke
(2022):
Long-term chemoprevention in patients with adenomatous polyposis coli: an observational study.
In: Familial Cancer, Bd. 21, Nr. 4: S. 463-472
Sommer, Anna K.; te Paske, Iris B. A. W.; Garcia-Pelaez, Jose; Laner, Andreas; Holinski-Feder, Elke; Steinke-Lange, Verena; Peters, Sophia; Valle, Laura; Spier, Isabel; Huntsman, David; de Voer, Richarda M.; Hoogerbrugge, Nicoline; Aretz, Stefan und Oliveira, Carla
(2022):
Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD.
In: European Journal of Medical Genetics, Bd. 65, Nr. 5, 104475
Morak, Monika; Pineda, Marta; Martins, Alexandra; Gaildrat, Pascaline; Tubeuf, Helene; Drouet, Aurelie; Gomez, Carolina; Damaso, Estela; Schäfer, Kerstin; Steinke-Lange, Verena; Koehler, Udo; Laner, Andreas; Hauchard, Julie; Chauris, Karine; Holinski-Feder, Elke und Capella, Gabriel
(2022):
Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group.
In: European Journal of Human Genetics, Bd. 30, Nr. 9: S. 1051-1059
Scharf, Florentine; Silva, Rafaela Magalhaes Leal; Morak, Monika; Hastie, Alex; Pickl, Julia M. A.; Sendelbach, Kai; Gebhard, Christian; Locher, Melanie; Laner, Andreas; Steinke-Lange, Verena; Koehler, Udo; Holinski-Feder, Elke und Wolf, Dieter A.
(2022):
Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer.
In: Journal of Medical Genetics, Bd. 59, Nr. 10: S. 976-983
Hallermayr, Ariane; Neuhann, Teresa M.; Steinke-Lange, Verena; Scharf, Florentine; Laner, Andreas; Ewald, Roland; Liesfeld, Ben; Holinski-Feder, Elke und Pickl, Julia M. A.
(2022):
Highly sensitive liquid biopsy Duplex sequencing complements tissue biopsy to enhance detection of clinically relevant genetic variants.
In: Frontiers in Oncology, Bd. 12, 1014592
2021
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
2020
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
2019
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
2017
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
2016
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
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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