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Number of items: 16.

Journal Article

Bick, Ulrich ORCID: 0000-0002-7254-8572, Engel, Christoph ORCID: 0000-0002-7247-282X, Krug, Barbara, Heindel, Walter, Fallenberg, Eva M., Rhiem, Kerstin, Maintz, David, Golatta, Michael ORCID: 0000-0002-2605-0060, Speiser, Dorothee, Rjosk-Dendorfer, Dorothea, Laemmer-Skarke, Irina, Dietzel, Frederic, Schaefer, Karl Werner Fritz, Leinert, Elena, Weigel, Stefanie, Sauer, Stephanie, Pertschy, Stefanie, Hofmockel, Thomas, Hagert-Winkler, Anne, Kast, Karin, Quante, Anne, Meindl, Alfons, Kiechle, Marion, Loeffler, Markus, Schmutzler, Rita K., Blohmer, Jens-Uwe, Horn, Denise, Varon-Mateeva, Raymonda, Huebbel, Verena, Herold, Natalie, Puesken, Michael, Wimberger, Pauline, Meisel, Cornelia, Keller, Katja, Antoch, Gerald, Vesper, Anne-Sophie, Fehm, Tanja N., Schlegelberger, Brigitte, Auber, Bernd, Wallaschek, Hannah, Heil, Joerg ORCID: 0000-0002-4684-9099, Schott, Sarah, Dikow, Nicola, Mundhenke, Christoph, Arnold, Norbert ORCID: 0000-0003-4523-8808, Caliebe, Almuth, Briest, Susanne, Lemke, Johannes, Gril, Sabine, Pfeifer, Katharina, Ramser, Juliane, Mahner, Sven, Ditsch, Nina, Zeder-Goess, Christine, Tio, Joke, Burg, Matthias, Horvath, Judith, Siebert, Reiner, Bartholomae, Jasmin, Janni, Wolfgang, Bley, Thorsten, Woeckel, Achim, Haaf, Thomas, Zachariae, Silke, Bucksch, Karolin and Enders, Ute (2019). High-risk breast cancer surveillance with MRI: 10-year experience from the German consortium for hereditary breast and ovarian cancer. Breast Cancer Res. Treat., 175 (1). S. 217 - 229. NEW YORK: SPRINGER. ISSN 1573-7217

Ehmke, Nadja, Caliebe, Almuth ORCID: 0000-0003-2157-425X, Koenig, Rainer, Kant, Sarina G., Stark, Zornitza, Cormier-Daire, Valerie, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Gillessen-Kaesbach, Gabriele, Hoff, Kirstin, Kawalia, Amit, Thiele, Holger, Altmueller, Janine, Fischer-Zirnsak, Bjoern, Knaus, Alexej, Zhu, Na ORCID: 0000-0001-6460-3087, Heinrich, Verena, Huber, Celine, Harabula, Izabela, Spielmann, Malte ORCID: 0000-0002-0583-4683, Horn, Denise, Komak, Uwe, Hecht, Jochen, Krawitz, Peter M., Nuernberg, Peter, Siebert, Reiner, Manzke, Hermann and Mundlos, Stefan (2014). Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome. Am. J. Hum. Genet., 95 (6). S. 763 - 771. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Ehmke, Nadja, Graul-Neumann, Luitgard, Smorag, Lukasz, Koenig, Rainer, Segebrecht, Lara ORCID: 0000-0002-0939-3213, Magoulas, Pilar, Scaglia, Fernando, Kilic, Esra, Hennig, Anna F., Adolphs, Nicolai, Saha, Namrata, Fauler, Beatrix, Kalscheuer, Vera M., Hennig, Friederike, Altmueller, Janine, Netzer, Christian, Thiele, Holger, Nuernberg, Peter, Yigit, Goekhan, Jaeger, Marten, Hecht, Jochen, Krueger, Ulrike, Mielke, Thorsten, Krawitz, Peter M., Horn, Denise, Schuelke, Markus ORCID: 0000-0003-2824-3891, Mundlos, Stefan, Bacino, Carlos A., Bonnen, Penelope E., Wollnik, Bernd, Fischer-Zirnsak, Bjoern and Kornak, Uwe (2017). De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. Am. J. Hum. Genet., 101 (5). S. 833 - 844. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Engel, Christoph ORCID: 0000-0002-7247-282X, Fischer, Christine, Zachariae, Silke, Bucksch, Karolin, Rhiem, Kerstin, Giesecke, Jutta, Herold, Natalie, Wappenschmidt, Barbara, Huebbel, Verena, Maringa, Monika, Reichstein-Gnielinski, Simone, Hahnen, Eric, Bartram, Claus R., Dikow, Nicola, Schott, Sarah, Speiser, Dorothee, Horn, Denise, Fallenberg, Eva M., Kiechle, Marion, Quante, Anne S., Vesper, Anne-Sophie, Fehm, Tanja, Mundhenke, Christoph, Arnold, Norbert, Leinert, Elena, Just, Walter, Siebers-Renelt, Ulrike, Weigel, Stefanie, Gehrig, Andrea, Woeckel, Achim, Schlegelberger, Brigitte, Pertschy, Stefanie, Kast, Karin, Wimberger, Pauline, Briest, Susanne, Loeffler, Markus, Bick, Ulrich and Schmutzler, Rita K. (2020). Breast cancer risk inBRCA1/2mutation carriers and noncarriers under prospective intensified surveillance. Int. J. Cancer, 146 (4). S. 999 - 1010. HOBOKEN: WILEY. ISSN 1097-0215

Fountain, Michael D., Oleson, David S., Rech, Megan E., Segebrecht, Lara ORCID: 0000-0002-0939-3213, Hunter, Jill, V, McCarthy, John M., Lupo, Philip J., Holtgrewe, Manuel, Moran, Rocio, Rosenfeld, Jill A., Isidor, Bertrand, Le Caignec, Cedric, Saenz, Margarita S., Pedersen, Robert C., Morgan, Thomas M., Pfotenhauer, Jean P., Xia, Fan, Bi, Weimin, Kang, Sung-Hae L., Patel, Ankita, Krantz, Ian D., Raible, Sarah E., Smith, Wendy, Cristian, Ingrid, Torti, Erin, Juusola, Jane, Milian, Francisca, Wentzensen, Ingrid M., Person, Richard E., Kury, Sebastien, Bezieau, Stephane, Uguen, Kevin, Ferec, Claude, Munnich, Arnold, van Haelst, Mieke, Lichtenbelt, Klaske D., van Gassen, Koen, Hagelstrom, Tanner, Chawla, Aditi, Perry, Denise L., Taft, Ryan J., Jones, Marilyn, Masser-Frye, Diane, Dyment, David, Venkateswaran, Sunita, Li, Chumei, Escobar, Luis F., Horn, Denise, Spillmann, Rebecca C., Pena, Loren, Wierzba, Jolanta, Strom, Tim M., Parenti, Ilaria, Kaiser, Frank J., Ehmke, Nadja and Schaaf, Christian P. (2019). Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. Genet. Med., 21 (8). S. 1797 - 1808. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

Horn, Denise, Kapeller, Johannes, Rivera-Brugues, Nria, Moog, Ute, Lorenz-Depiereux, Bettina, Eck, Sebastian, Hempel, Maja, Wagenstaller, Janine, Gawthrope, Alex, Monaco, Anthony P., Bonin, Michael, Riess, Olaf, Wohlleber, Eva, Illig, Thomas, Bezzina, Connie R., Franke, Andre ORCID: 0000-0003-1530-5811, Spranger, Stephanie, Villavicencio-Lorini, Pablo, Seifert, Wenke, Rosenfeld, Jochen, Klopocki, Eva ORCID: 0000-0003-1438-2081, Rappold, Gudrun A. and Strom, Tim M. (2010). Identification of FOXP1 Deletions in Three Unrelated Patients with Mental Retardation and Significant Speech and Language Deficits. Hum. Mutat., 31 (11). S. E1851 - 10. MALDEN: WILEY-BLACKWELL. ISSN 1059-7794

Knaus, Alexej, Awaya, Tomonari, Helbig, Ingo ORCID: 0000-0001-8486-0558, Afawi, Zaid, Pendziwiat, Manuela, Abu-Rachma, Jubran, Thompson, Miles D., Cole, David E., Skinner, Steve, Annese, Fran, Canham, Natalie, Schweiger, Michal R., Robinson, Peter N., Mundlos, Stefan, Kinoshita, Taroh, Munnich, Arnold, Murakami, Yoshiko, Horn, Denise and Krawitz, Peter M. (2016). Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. Hum. Mutat., 37 (8). S. 737 - 745. HOBOKEN: WILEY-BLACKWELL. ISSN 1098-1004

Seifert, Wenke, Kuehnisch, Jirko, Maritzen, Tanja ORCID: 0000-0003-4993-0340, Horn, Denise, Haucke, Volker ORCID: 0000-0003-3119-6993 and Hennies, Hans Christian (2011). Cohen Syndrome-associated Protein, COH1, Is a Novel, Giant Golgi Matrix Protein Required for Golgi Integrity. J. Biol. Chem., 286 (43). S. 37665 - 37676. BETHESDA: AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC. ISSN 1083-351X

Seifert, Wenke, Kuehnisch, Jirko, Maritzen, Tanja ORCID: 0000-0003-4993-0340, Lommatzsch, Stefanie, Hennies, Hans Christian, Bachmann, Sebastian, Horn, Denise and Haucke, Volker ORCID: 0000-0003-3119-6993 (2015). Cohen Syndrome-associated Protein COH1 Physically and Functionally Interacts with the Small GTPase RAB6 at the Golgi Complex and Directs Neurite Outgrowth. J. Biol. Chem., 290 (6). S. 3349 - 3359. BETHESDA: AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC. ISSN 1083-351X

Seifert, Wenke, Kuehnisch, Jirko, Maritzen, Tanja ORCID: 0000-0003-4993-0340, Lommatzsch, Stefanie, Hennies, Hans Christian, Bachmann, Sebastian, Horn, Denise and Haucke, Volker ORCID: 0000-0003-3119-6993 (2015). Cohen Syndrome-associated Protein COH1 Physically and Functionally Interacts with the Small GTPase RAB6 at the Golgi Complex and Directs Neurite Outgrowth. J. Biol. Chem., 290 (6). S. 3349 - 3359. BETHESDA: AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC. ISSN 1083-351X

Spielmann, Malte ORCID: 0000-0002-0583-4683, Kakar, Naseebullah, Tayebi, Naeimeh, Leettola, Catherine, Nuernberg, Gudrun, Sowada, Nadine, Lupianez, Dario G. ORCID: 0000-0002-3165-036X, Harabula, Izabela, Floettmann, Ricarda, Horn, Denise, Chan, Wing Lee, Wittler, Lars, Yilmaz, Ruestem, Altmueller, Janine, Thiele, Holger, van Bokhoven, Hans, Schwartz, Charles E., Nuernberg, Peter, Bowie, James U., Ahmad, Jamil, Kubisch, Christian ORCID: 0000-0003-4220-0978, Mundlos, Stefan and Borck, Guntram (2016). Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice. Genome Res., 26 (2). S. 183 - 192. COLD SPRING HARBOR: COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT. ISSN 1549-5469

Stange, Katja ORCID: 0000-0002-8416-2204, Desir, Julie, Kakar, Naseebullah, Mueller, Thomas D., Budde, Birgit S., Gordon, Christopher T., Horn, Denise, Seemann, Petra ORCID: 0000-0002-6056-6669 and Borck, Guntram (2015). A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia. Orphanet J. Rare Dis., 10. LONDON: BIOMED CENTRAL LTD. ISSN 1750-1172

Ullah, Irfan, Kakar, Naseebullah, Schrauwen, Isabelle ORCID: 0000-0001-7310-6082, Hussain, Shabir ORCID: 0000-0001-5744-4292, Chakchouk, Imen, Liaqat, Khurram, Acharya, Anushree, Wasif, Naveed, Santos-Cortez, Regie Lyn P., Khan, Saadullah ORCID: 0000-0001-5037-1473, Aziz, Abdul, Lee, Kwanghyuk, Couthouis, Julien, Horn, Denise, Kragesteen, Bjort K., Spielmann, Malte, Thiele, Holger, Nickerson, Deborah A., Bamshad, Michael J., Gitler, Aaron D., Ahmad, Jamil, Ansar, Muhammad ORCID: 0000-0001-5891-7063, Borck, Guntram, Ahmad, Wasim and Leal, Suzanne M. (2019). Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Hum. Genet., 138 (6). S. 593 - 601. NEW YORK: SPRINGER. ISSN 1432-1203

Zemojtel, Tomasz, koehler, Sebastian, Mackenroth, Luisa, Jaeger, Marten, Hecht, Jochen, Krawitz, Peter, Graul-Neumann, Luitgard, Doelken, Sandra, Ehmke, Nadja, Spielmann, Malte ORCID: 0000-0002-0583-4683, Oien, Nancy Christine, Schweiger, Michal R., Krueger, Ulrike, Frommer, Goetz, Fischer, Bjoern, Kornak, Uwe, Floettmann, Ricarda, Ardeshirdavani, Amin ORCID: 0000-0002-7226-7324, Moreau, Yves, Lewis, Suzanna E., Haendel, Melissa, Smedley, Damian, Horn, Denise, Mundlos, Stefan and Robinson, Peter N. (2014). Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. Sci. Transl. Med., 6 (252). WASHINGTON: AMER ASSOC ADVANCEMENT SCIENCE. ISSN 1946-6242

Zweier, Christiane ORCID: 0000-0001-8002-2020, Kraus, Cornelia, Brueton, Louise, Cole, Trevor, Degenhardt, Franziska, Engels, Hartmut, Gillessen-Kaesbach, Gabriele, Graul-Neumann, Luitgard, Horn, Denise, Hoyer, Juliane, Just, Walter, Rauch, Anita ORCID: 0000-0003-2930-3163, Reis, Andre ORCID: 0000-0002-6301-6363, Wollnik, Bernd, Zeschnigk, Michael, Luedecke, Hermann-Josef and Wieczorek, Dagmar ORCID: 0000-0003-2812-6492 (2013). A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. J. Med. Genet., 50 (12). S. 838 - 848. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin ORCID: 0000-0003-0683-9731, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Woedl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna ORCID: 0000-0003-3888-0624, Chu, Yoyo W. Y., Chung, Brain H. Y., Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hulya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata ORCID: 0000-0001-8721-210X, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, Lopez-Gonzalez, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco ORCID: 0000-0002-0589-2584, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane ORCID: 0000-0002-1772-0106, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen ORCID: 0000-0003-4271-5859, Pasquier, Laurent ORCID: 0000-0003-3985-1286, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline ORCID: 0000-0002-9789-3591, Ropers, Fabienne G., Rosello, Monica ORCID: 0000-0001-9234-2953, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Sanchis Calvo, Amparo, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Clayton-Smith, Jill and Santen, Gijs W. E. (2019). The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet. Med., 21 (6). S. 1295 - 1308. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

This list was generated on Sat Oct 23 04:38:31 2021 CEST.