OnkoRiskNET: a multicenter, interdisciplinary, telemedicine-based model to improve care for patients with a genetic tumor risk syndrome
Tecklenburg, Johanna, Vajen, Beate, Morlot, Susanne, Anders, Petra, Memenga, Paula, Link, Elena, Baumann, Eva, Wölffling, Sarah, Schröck, Evelin, Bergmann, Anke Katharina, Schlegelberger, Brigitte
Published in BMC health services research (21.06.2022)
Published in BMC health services research (21.06.2022)
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Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A
Golas, Monika M., Auber, Bernd, Ripperger, Tim, Pabst, Brigitte, Schmidt, Gunnar, Morlot, Michel, Diebold, Uta, Steinemann, Doris, Schlegelberger, Brigitte, Morlot, Susanne
Published in American journal of medical genetics. Part A (01.07.2019)
Published in American journal of medical genetics. Part A (01.07.2019)
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OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)
Thoenes, Michaela, Zimmermann, Ulrike, Ebermann, Inga, Ptok, Martin, Lewis, Morag A, Thiele, Holger, Morlot, Susanne, Hess, Markus M, Gal, Andreas, Eisenberger, Tobias, Bergmann, Carsten, Nürnberg, Gudrun, Nürnberg, Peter, Steel, Karen P, Knipper, Marlies, Bolz, Hanno Jörn
Published in Orphanet journal of rare diseases (10.02.2015)
Published in Orphanet journal of rare diseases (10.02.2015)
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From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high‐throughput sequencing
Luttikhuizen, Jana Lisa, Bublitz, Janin, Schubert, Stephanie, Schmidt, Gunnar, Hofmann, Winfried, Morlot, Susanne, Buurman, Reena, Auber, Bernd, Schlegelberger, Brigitte, Steinemann, Doris
Published in Molecular genetics & genomic medicine (01.09.2020)
Published in Molecular genetics & genomic medicine (01.09.2020)
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Dating the Origin of the CCR5-Δ32 AIDS-Resistance Allele by the Coalescence of Haplotypes
Stephens, J. Claiborne, Reich, David E., Goldstein, David B., Shin, Hyoung Doo, Smith, Michael W., Carrington, Mary, Winkler, Cheryl, Huttley, Gavin A., Allikmets, Rando, Schriml, Lynn, Gerrard, Bernard, Malasky, Michael, Ramos, Maria D., Morlot, Susanne, Tzetis, Maria, Oddoux, Carole, di Giovine, Francesco S., Nasioulas, Georgios, Chandler, David, Aseev, Michael, Hanson, Matthew, Kalaydjieva, Luba, Glavac, Damjan, Gasparini, Paolo, Kanavakis, E., Claustres, Mireille, Kambouris, Marios, Ostrer, Harry, Duff, Gordon, Baranov, Vladislav, Sibul, Hiljar, Metspalu, Andres, Goldman, David, Martin, Nick, Duffy, David, Schmidtke, Jorg, Estivill, Xavier, O'Brien, Stephen J., Dean, Michael
Published in American journal of human genetics (01.06.1998)
Published in American journal of human genetics (01.06.1998)
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Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation
Gremer, Lothar, De Luca, Alessandro, Merbitz-Zahradnik, Torsten, Dallapiccola, Bruno, Morlot, Susanne, Tartaglia, Marco, Kutsche, Kerstin, Ahmadian, Mohammad Reza, Rosenberger, Georg
Published in Human molecular genetics (01.03.2010)
Published in Human molecular genetics (01.03.2010)
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8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families
Barber, John Ck, Bunyan, Dave, Curtis, Merryl, Robinson, Denise, Morlot, Susanne, Dermitzel, Anette, Liehr, Thomas, Alves, Claudia, Trindade, Joana, Paramos, Ana I, Cooper, Clare, Ocraft, Kevin, Taylor, Emma-Jane, Maloney, Viv K
Published in Molecular cytogenetics (18.02.2010)
Published in Molecular cytogenetics (18.02.2010)
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Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy
Danhauser, Katharina, Alhaddad, Bader, Makowski, Christine, Piekutowska-Abramczuk, Dorota, Syrbe, Steffen, Gomez-Ospina, Natalia, Manning, Melanie A., Kostera-Pruszczyk, Anna, Krahn-Peper, Claudia, Berutti, Riccardo, Kovács-Nagy, Reka, Gusic, Mirjana, Graf, Elisabeth, Laugwitz, Lucia, Röblitz, Michaela, Wroblewski, Andreas, Hartmann, Hans, Das, Anibh M., Bültmann, Eva, Fang, Fang, Xu, Manting, Schatz, Ulrich A., Karall, Daniela, Zellner, Herta, Haberlandt, Edda, Feichtinger, René G., Mayr, Johannes A., Meitinger, Thomas, Prokisch, Holger, Strom, Tim M., Płoski, Rafał, Hoffmann, Georg F., Pronicki, Maciej, Bonnen, Penelope E., Morlot, Susanne, Haack, Tobias B.
Published in American journal of human genetics (01.11.2018)
Published in American journal of human genetics (01.11.2018)
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Characterization of breakpoint sequences of five rearrangements inL1CAM andABCD1 (ALD) genes
Kutsche, Kerstin, Ressler, Bernadette, Katzera, Heide-Gertrude, Orth, Ulrike, Gillessen-Kaesbach, Gabriele, Morlot, Susanne, Schwinger, Eberhard, Gal, Andreas
Published in Human mutation (01.05.2002)
Published in Human mutation (01.05.2002)
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Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis
Ganapathi, Mythily, Argyriou, Loukas, Martínez-Azorín, Francisco, Morlot, Susanne, Yigit, Gökhan, Lee, Teresa M., Auber, Bernd, von Gise, Alexander, Petrey, Donald S., Thiele, Holger, Cyganek, Lukas, Sabater-Molina, María, Ahimaz, Priyanka, Cabezas-Herrera, Juan, Sorlí-García, Moisés, Zibat, Arne, Siegelin, Markus D., Burfeind, Peter, Buchovecky, Christie M., Hasenfuss, Gerd, Honig, Barry, Li, Yun, Iglesias, Alejandro D., Wollnik, Bernd
Published in Human genetics (01.11.2020)
Published in Human genetics (01.11.2020)
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Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice
Mayorandan, Sebene, Meyer, Uta, Gokcay, Gülden, Segarra, Nuria Garcia, de Baulny, Hélène Ogier, van Spronsen, Francjan, Zeman, Jiri, de Laet, Corinne, Spiekerkoetter, Ute, Thimm, Eva, Maiorana, Arianna, Dionisi-Vici, Carlo, Moeslinger, Dorothea, Brunner-Krainz, Michaela, Lotz-Havla, Amelie Sophia, Cocho de Juan, José Angel, Couce Pico, Maria Luz, Santer, René, Scholl-Bürgi, Sabine, Mandel, Hanna, Bliksrud, Yngve Thomas, Freisinger, Peter, Aldamiz-Echevarria, Luis Jose, Hochuli, Michel, Gautschi, Matthias, Endig, Jessica, Jordan, Jens, McKiernan, Patrick, Ernst, Stefanie, Morlot, Susanne, Vogel, Arndt, Sander, Johannes, Das, Anibh Martin
Published in Orphanet journal of rare diseases (01.08.2014)
Published in Orphanet journal of rare diseases (01.08.2014)
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A tandem duplication of BRCA1 exons 1–19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome
Du, Chen, Mark, Dorothea, Wappenschmidt, Barbara, Böckmann, Beatrix, Pabst, Brigitte, Chan, Saki, Cao, Han, Morlot, Susanne, Scholz, Caroline, Auber, Bernd, Rhiem, Kerstin, Schmutzler, Rita, Illig, Thomas, Schlegelberger, Brigitte, Steinemann, Doris
Published in Breast cancer research and treatment (01.12.2018)
Published in Breast cancer research and treatment (01.12.2018)
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De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia
Niemann, Jan Hendrik, Du, Chen, Morlot, Susanne, Schmidt, Gunnar, Auber, Bernd, Kaune, Beate, Göhring, Gudrun, Ripperger, Tim, Schlegelberger, Brigitte, Hofmann, Winfried, Smol, Thomas, Ait‐Yahya, Emilie, Raimbault, Anna, Lambilliotte, Anne, Petit, Florence, Steinemann, Doris
Published in Clinical genetics (01.10.2020)
Published in Clinical genetics (01.10.2020)
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12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature
Heldt, Frederik, Wallaschek, Hannah, Ripperger, Tim, Morlot, Susanne, Illig, Thomas, Eggermann, Thomas, Schlegelberger, Brigitte, Scholz, Caroline, Steinemann, Doris
Published in European journal of medical genetics (01.08.2018)
Published in European journal of medical genetics (01.08.2018)
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Consensus Recommendations of the German Consortium for Hereditary Breast and Ovarian Cancer
Rhiem, Kerstin, Auber, Bernd, Briest, Susanne, Dikow, Nicola, Ditsch, Nina, Dragicevic, Neda, Grill, Sabine, Hahnen, Eric, Horvath, Judit, Jaeger, Bernadette, Kast, Karin, Kiechle, Marion, Leinert, Elena, Morlot, Susanne, Püsken, Michael, Schäfer, Dieter, Schott, Sarah, Schroeder, Christopher, Siebers-Renelt, Ulrike, Solbach, Christine, Weber-Lassalle, Nana, Witzel, Isabell, Zeder-Göß, Christine, Schmutzler, Rita K.
Published in Breast care (Basel, Switzerland) (01.04.2022)
Published in Breast care (Basel, Switzerland) (01.04.2022)
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Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations
Zenker, Martin, Lehmann, Katarina, Schulz, Anna Leana, Barth, Helmut, Hansmann, Dagmar, Koenig, Rainer, Korinthenberg, Rudolf, Kreiss-Nachtsheim, Martina, Meinecke, Peter, Morlot, Susanne, Mundlos, Stefan, Quante, Anne S, Raskin, Salmo, Schnabel, Dirk, Wehner, Lars-Erik, Kratz, Christian P, Horn, Denise, Kutsche, Kerstin
Published in Journal of medical genetics (01.02.2007)
Published in Journal of medical genetics (01.02.2007)
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Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management
Heidemann, Simone, Fischer, Christine, Engel, Christoph, Fischer, Barbara, Harder, Lana, Schlegelberger, Brigitte, Niederacher, Dieter, Goecke, Timm O., Doelken, Sandra C., Dikow, Nicola, Jonat, Walter, Morlot, Susanne, Schmutzler, Rita C., Arnold, Norbert K.
Published in Breast cancer research and treatment (01.08.2012)
Published in Breast cancer research and treatment (01.08.2012)
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