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Anzahl der Publikationen: 11
Zeitschriftenartikel
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
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
Hauke, Jan; Hahnen, Eric; Schneider, Stephanie; Reuss, Alexander; Richters, Lisa; Kommoss, Stefan; Heimbach, Andre; Marme, Frederik; Schmidt, Sandra; Prieske, Katharina; Gevensleben, Heidrun; Burges, Alexander; Borde, Julika; De Gregorio, Nikolaus; Nuernberg, Peter; El-Balat, Ahmed; Thiele, Holger; Hilpert, Felix; Altmüller, Janine; Meier, Werner; Dietrich, Dimo; Kimmig, Rainer; Schoemig-Markiefka, Birgid; Kast, Karin; Braicu, Elena Ioana; Baumann, Klaus; Jackisch, Christian; Park-Simon, Tjoung-Won; Ernst, Corinna; Hanker, Lars; Pfisterer, Jacobus; Schnelzer, Andreas; du Bois, Andreas; Schmutzler, Rita K. und Harter, Philipp
(2019):
Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883).
In: Journal of Medical Genetics, Bd. 56, Nr. 9: S. 574-580
[PDF, 705kB]
Murakami, Yoshiko; Thi Tuyet Mai, Nguyen; Baratang, Nissan; Raju, Praveen K.; Knaus, Alexej; Ellard, Sian; Jones, Gabriela; Lace, Baiba; Rousseau, Justine; Ajeawung, Norbert Fonya; Kamei, Atsushi; Minase, Gaku; Akasaka, Manami; Araya, Nami; Koshimizu, Eriko; van den Ende, Jenneke; Erger, Florian; Altmüller, Janine; Krumina, Zita; Strautmanis, Jurgis; Inashkina, Inna; Stavusis, Janis; El-Gharbawy, Areeg; Sebastian, Jessica; Puri, Ratna Dua; Kulshrestha, Samarth; Verma, Ishwar C.; Maier, Esther M.; Haack, Tobias B.; Israni, Anil; Baptista, Julia; Gunning, Adam; Rosenfeld, Jill A.; Liu, Pengfei; Joosten, Marieke; Rocha, Maria Eugenia; Hashem, Mais O.; Aldhalaan, Hesham M.; Alkuraya, Fowzan S.; Miyatake, Satoko; Matsumoto, Naomichi; Krawitz, Peter M.; Rossignol, Elsa; Kinoshita, Taroh und Campeau, Philippe M.
(2019):
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
In: American Journal of Human Genetics, Bd. 105, Nr. 2: S. 384-394
Weber-Lassalle, Nana; Borde, Julika; Weber-Lassalle, Konstantin; Horvath, Judit; Niederacher, Dieter; Arnold, Norbert; Kaulfuss, Silke; Ernst, Corinna; Paul, Victoria G.; Honisch, Ellen; Klaschik, Kristina; Volk, Alexander E.; Kubisch, Christian; Rapp, Steffen; Lichey, Nadine; Altmüller, Janine; Lepkes, Louisa; Pohl-Rescigno, Esther; Thiele, Holger; Nuernberg, Peter; Larsen, Mirjam; Richters, Lisa; Rhiem, Kerstin; Wappenschmidt, Barbara; Engel, Christoph; Meindl, Alfons; Schmutzler, Rita K.; Hahnen, Eric und Hauke, Jan
(2019):
Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.
In: Breast Cancer Research, Bd. 21, 55
Demenais, Florence; Margaritte-Jeannin, Patricia; Barnes, Kathleen C.; Cookson, William O. C.; Altmüller, Janine; Ang, Wei; Barr, R. Graham; Beaty, Terri H.; Becker, Allan B.; Beilby, John; Bisgaard, Hans; Björnsdottir, Unnur Steina; Bleecker, Eugene; Bonnelykke, Klaus; Boomsma, Dorret I.; Bouzigon, Emmanuelle; Brightling, Christopher E.; Brossard, Myriam; Brusselle, Guy G.; Burchard, Esteban; Burkart, Kristin M.; Bush, Andrew; Chan-Yeung, Moira; Chung, Kian Fan; Alves, Alexessander Couto; Curtin, John A.; Custovic, Adnan; Daley, Denise; Jongste, Johan C. de; Del-Rio-Navarro, Blanca E.; Donohue, Kathleen M.; Duijts, Liesbeth; Eng, Celeste; Eriksson, Johan G.; Farrall, Martin; Fedorova, Yuliya; Feenstra, Bjarke; Ferreira, Manuel A.; Freidin, Maxim B.; Gajdos, Zofia; Gauderman, Jim; Gehring, Ulrike; Geller, Frank; Genuneit, Jon; Gharib, Sina A.; Gilliland, Frank; Granell, Raquel; Graves, Penelope E.; Gudbjartsson, Daniel F.; Haahtela, Tari; Heckbert, Susan R.; Heederik, Dick; Heinrich, Joachim ORCID: https://orcid.org/0000-0002-9620-1629; Heliovaara, Markku; Henderson, John; Himes, Blanca E.; Hirose, Hiroshi; Hirschhorn, Joel N.; Hofman, Albert; Holt, Patrick; Hottenga, Jouke; Hudson, Thomas J.; Hui, Jennie; Imboden, Medea; Ivanov, Vladimir; Jaddoe, Vincent W. V.; James, Alan; Janson, Christer; Jarvelin, Marjo-Riitta; Jarvis, Deborah; Jones, Graham; Jonsdottir, Ingileif; Jousilahti, Pekka; Kabesch, Michael; Kahonen, Mika; Kantor, David B.; Karunas, Alexandra S.; Khusnutdinova, Elza; Koppelman, Gerard H.; Kozyrskyj, Anita L.; Kreiner, Eskil; Kubo, Michiaki; Kumar, Rajesh; Kumar, Ashish; Kuokkanen, Mikko; Lahousse, Lies; Laitinen, Tarja; Laprise, Catherine; Lathrop, Mark; Lau, Susanne; Lee, Young-Ae; Lehtimaki, Terho; Letort, Sebastien; Levin, Albert M.; Li, Guo; Liang, Liming; Löhr, Laura R.; London, Stephanie J.; Loth, Daan W.; Manichaikul, Ani; Marenholz, Ingo; Martinez, Fernando J.; Matheson, Melanie C.; Mathias, Rasika A.; Matsumoto, Kenji; Mbarek, Hamdi; McArdle, Wendy L.; Melbye, Mads; Melen, Erik; Meyers, Deborah A.; Michel, Sven; Mohamdi, Hamida; Musk, Arthur W.; Myers, Rachel A.; Nieuwenhuis, Maartje A. E.; Noguchi, Emiko; O'Connor, George T.; Ogorodova, Ludmila M.; Palmer, Cameron D.; Palotie, Aarno; Park, Julie E.; Pennell, Craig E.; Pershagen, Goran; Polonikov, Alexey; Postma, Dirkje S.; Probst-Hensch, Nicole; Puzyrev, Valery P.; Raby, Benjamin A.; Raitakari, Olli T.; Ramasamy, Adaikalavan; Rich, Stephen S.; Robertson, Colin F.; Romieu, Isabelle; Salam, Muhammad T.; Salomaa, Veikko; Schlünssen, Vivi; Scott, Robert; Selivanova, Polina A.; Sigsgaard, Torben; Simpson, Angela; Siroux, Valerie; Smith, Lewis J.; Solodilova, Maria; Standl, Marie; Stefansson, Kari; Strachan, David P.; Stricker, Bruno H.; Takahashi, Atsushi; Thompson, Philip J.; Thorleifsson, Gudmar; Thorsteinsdottir, Unnur; Tiesler, Carla M. T.; Torgerson, Dara G.; Tsunoda, Tatsuhiko; Uitterlinden, Andre G.; Valk, Ralf J. P. van der; Vaysse, Amaury; Vedantam, Sailaja; Berg, Andrea von; Mutius, Erika von; Vonk, Judith M.; Waage, Johannes; Wareham, Nick J.; Weiss, Scott T.; White, Wendy B.; Wickman, Magnus; Widen, Elisabeth; Willemsen, Gonneke; Williams, L. Keoki; Wouters, Inge M.; Yang, James J.; Zhao, Jing Hua; Moffatt, Miriam F.; Ober, Carole und Nicolae, Dan L.
(Januar 2018):
Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.
In: Nature Genetics, Bd. 50, Nr. 1: S. 42-53
ORCID: https://orcid.org/0000-0002-9620-1629; Heliovaara, Markku; Henderson, John; Himes, Blanca E.; Hirose, Hiroshi; Hirschhorn, Joel N.; Hofman, Albert; Holt, Patrick; Hottenga, Jouke; Hudson, Thomas J.; Hui, Jennie; Imboden, Medea; Ivanov, Vladimir; Jaddoe, Vincent W. V.; James, Alan; Janson, Christer; Jarvelin, Marjo-Riitta; Jarvis, Deborah; Jones, Graham; Jonsdottir, Ingileif; Jousilahti, Pekka; Kabesch, Michael; Kahonen, Mika; Kantor, David B.; Karunas, Alexandra S.; Khusnutdinova, Elza; Koppelman, Gerard H.; Kozyrskyj, Anita L.; Kreiner, Eskil; Kubo, Michiaki; Kumar, Rajesh; Kumar, Ashish; Kuokkanen, Mikko; Lahousse, Lies; Laitinen, Tarja; Laprise, Catherine; Lathrop, Mark; Lau, Susanne; Lee, Young-Ae; Lehtimaki, Terho; Letort, Sebastien; Levin, Albert M.; Li, Guo; Liang, Liming; Löhr, Laura R.; London, Stephanie J.; Loth, Daan W.; Manichaikul, Ani; Marenholz, Ingo; Martinez, Fernando J.; Matheson, Melanie C.; Mathias, Rasika A.; Matsumoto, Kenji; Mbarek, Hamdi; McArdle, Wendy L.; Melbye, Mads; Melen, Erik; Meyers, Deborah A.; Michel, Sven; Mohamdi, Hamida; Musk, Arthur W.; Myers, Rachel A.; Nieuwenhuis, Maartje A. E.; Noguchi, Emiko; O'Connor, George T.; Ogorodova, Ludmila M.; Palmer, Cameron D.; Palotie, Aarno; Park, Julie E.; Pennell, Craig E.; Pershagen, Goran; Polonikov, Alexey; Postma, Dirkje S.; Probst-Hensch, Nicole; Puzyrev, Valery P.; Raby, Benjamin A.; Raitakari, Olli T.; Ramasamy, Adaikalavan; Rich, Stephen S.; Robertson, Colin F.; Romieu, Isabelle; Salam, Muhammad T.; Salomaa, Veikko; Schlünssen, Vivi; Scott, Robert; Selivanova, Polina A.; Sigsgaard, Torben; Simpson, Angela; Siroux, Valerie; Smith, Lewis J.; Solodilova, Maria; Standl, Marie; Stefansson, Kari; Strachan, David P.; Stricker, Bruno H.; Takahashi, Atsushi; Thompson, Philip J.; Thorleifsson, Gudmar; Thorsteinsdottir, Unnur; Tiesler, Carla M. T.; Torgerson, Dara G.; Tsunoda, Tatsuhiko; Uitterlinden, Andre G.; Valk, Ralf J. P. van der; Vaysse, Amaury; Vedantam, Sailaja; Berg, Andrea von; Mutius, Erika von; Vonk, Judith M.; Waage, Johannes; Wareham, Nick J.; Weiss, Scott T.; White, Wendy B.; Wickman, Magnus; Widen, Elisabeth; Willemsen, Gonneke; Williams, L. Keoki; Wouters, Inge M.; Yang, James J.; Zhao, Jing Hua; Moffatt, Miriam F.; Ober, Carole und Nicolae, Dan L.
(Januar 2018):
Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.
In: Nature Genetics, Bd. 50, Nr. 1: S. 42-53
Hauke, Jan; Horvath, Judit; Gross, Eva; Gehrig, Andrea; Honisch, Ellen; Hackmann, Karl; Schmidt, Gunnar; Arnold, Norbert; Faust, Ulrike; Sutter, Christian; Hentschel, Julia; Wang-Gohrke, Shan; Smogavec, Mateja; Weber, Bernhard H. F.; Weber-Lassalle, Nana; Weber-Lassalle, Konstantin; Borde, Julika; Ernst, Corinna; Altmüller, Janine; Volk, Alexander E.; Thiele, Holger; Huebbel, Verena; Nuernberg, Peter; Keupp, Katharina; Versmold, Beatrix; Pohl, Esther; Kubisch, Christian; Grill, Sabine; Paul, Victoria; Herold, Natalie; Lichey, Nadine; Rhiem, Kerstin; Ditsch, Nina; Ruckert, Christian; Wappenschmidt, Barbara; Auber, Bernd; Rump, Andreas; Niederacher, Dieter; Haaf, Thomas; Ramser, Juliane; Dworniczak, Bernd; Engel, Christoph; Meindl, Alfons; Schmutzler, Rita K. und Hahnen, Eric
(2018):
Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.
In: Cancer Medicine, Bd. 7, Nr. 4: S. 1349-1358
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]
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