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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 6
2022
Rolfes, Muriel; Borde, Julika; Möllenhoff, Kathrin; Kayali, Mohamad; Ernst, Corinna; Gehrig, Andrea; Sutter, Christian; Ramser, Juliane; Niederacher, Dieter; Horvath, Judit; Arnold, Norbert; Meindl, Alfons; Auber, Bernd; Rump, Andreas; Wang-Gohrke, Shan; Ritter, Julia; Hentschel, Julia; Thiele, Holger; Altmüller, Janine; Nürnberg, Peter; Rhiem, Kerstin; Engel, Christoph; Wappenschmidt, Barbara; Schmutzler, Rita K.; Hahnen, Eric und Hauke, Jan
(2022):
Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer.
In: Cancers, Bd. 14, Nr. 13, 3292
2020
Hauke, Jan 
ORCID: https://orcid.org/0000-0001-8236-4075; Harter, Philipp; Ernst, Corinna ORCID: https://orcid.org/0000-0001-7756-8815; Burges, Alexander; Schmidt, Sandra; Reuss, Alexander; Borde, Julika; De Gregorio, Nikolaus; Dietrich, Dimo; El-Balat, Ahmed; Kayali, Mohamad; Gevensleben, Heidrun; Hilpert, Felix; Altmüller, Janine; Heimbach, André; Meier, Werner; Schoemig-Markiefka, Birgid; Thiele, Holger; Kimmig, Rainer; Nürnberg, Peter; Kast, Karin; Richters, Lisa; Sehouli, Jalid; Schmutzler, Rita K und Hahnen, Eric ORCID: https://orcid.org/0000-0002-1152-8367
(2020):
Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).
In: Journal of Medical Genetics, Bd. 59, Nr. 3: S. 248-252
ORCID: https://orcid.org/0000-0001-8236-4075; Harter, Philipp; Ernst, Corinna ORCID: https://orcid.org/0000-0001-7756-8815; Burges, Alexander; Schmidt, Sandra; Reuss, Alexander; Borde, Julika; De Gregorio, Nikolaus; Dietrich, Dimo; El-Balat, Ahmed; Kayali, Mohamad; Gevensleben, Heidrun; Hilpert, Felix; Altmüller, Janine; Heimbach, André; Meier, Werner; Schoemig-Markiefka, Birgid; Thiele, Holger; Kimmig, Rainer; Nürnberg, Peter; Kast, Karin; Richters, Lisa; Sehouli, Jalid; Schmutzler, Rita K und Hahnen, Eric ORCID: https://orcid.org/0000-0002-1152-8367
(2020):
Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).
In: Journal of Medical Genetics, Bd. 59, Nr. 3: S. 248-252
2017
Minnerop, Martina; Kurzwelly, Delia; Wagner, Holger; Söhn, Anne S.; Reichbauer, Jennifer; Tao, Feifei; Rattay, Tim W.; Peitz, Michael; Rehbach, Kristina; Giorgetti, Alejandro; Pyle, Angela; Thiele, Holger; Altmüller, Janine; Timmann, Dagmar; Karaca, Ilker; Lennarz, Martina; Bäts, Jonathan; Hengel, Holger; Synofzik, Matthis; Atasu, Burcu; Feely, Shawna; Kennerson, Marina; Stendel, Claudia; Lindig, Tobias; Gonzalez, Michael A.; Stirnberg, Rüdiger; Sturm, Marc; Röske, Sandra; Jung, Johanna; Bauer, Peter; Lohmann, Ebba; Herms, Stefan; Heilmann-Heimbach, Stefanie; Nicholson, Garth; Mahanjah, Muhammad; Sharkia, Rajech; Carloni, Paolo; Brüstle, Oliver; Klopstock, Thomas; Mathews, Katherine D.; Shy, Michael E.; Jonghe, Peter de; Chinnery, Patrick F.; Horvath, Rita; Kohlhase, Jürgen; Schmitt, Ina; Wolf, Michael; Greschus, Susanne; Amunts, Katrin; Maier, Wolfgang; Schöls, Ludger; Nürnberg, Peter; Zuchner, Stephan; Klockgether, Thomas; Ramirez, Alfredo und Schüle, Rebecca
(2017):
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
In: Brain, Bd. 140: S. 1561-1578
Neidhardt, Guido; Hauke, Jan; Ramser, Juliane; Gross, Eva; Gehrig, Andrea; Müller, Clemens R.; Kahlert, Anne-Karin; Hackmann, Karl; Honisch, Ellen; Niederacher, Dieter; Heilmann-Heimbach, Stefanie; Franke, Andre; Lieb, Wolfgang; Thiele, Holger; Altmüller, Janine; Nürnberg, Peter; Klaschik, Kristina; Ernst, Corinna; Ditsch, Nina; Jessen, Frank; Ramirez, Alfredo; Wappenschmidt, Barbara; Engel, Christoph; Rhiem, Kerstin; Meindl, Alfons; Schmutzler, Rita K. und Hahnen, Eric
(2017):
Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer.
In: Jama Oncology, Bd. 3, Nr. 9: S. 1245-1248
Khan, Arif O.; Becirovic, Elvir; Betz, Christian; Neuhaus, Christine; Altmüller, Janine; Riedmayr, Lisa Maria; Motameny, Susanne; Nürnberg, Gudrun; Nürnberg, Peter und Bolz, Hanno J.
(2017):
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula.
In: Scientific Reports, Bd. 7, 1411
[PDF, 2MB]
2016
Korenke, Georg-Christoph; Eggert, Marlene; Thiele, Holger; Nürnberg, Peter; Sander, Thomas und Steinlein, Ortrud K.
(2016):
Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3.
In: Epilepsia, Bd. 57, Nr. 3, E60-E63