Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration von Preising, Markus N., Görg, Boris, Friedburg, Christoph, Qvartskhava, Natalia, Budde, Birgit S., Bonus, Michele, Toliat, Mohammad R., Pfleger, Christopher, Altmüller, Janine, Herebian, Diran, Beyer, Mila, Zöllner, Helge J., Wittsack, Hans-Jörg, Schaper, Jörg, Klee, Dirk, Zechner, Ulrich, Nürnberg, Peter, Schipper, Jörg, Schnitzler, Alfons, Gohlke, Holger, Lorenz, Birgit, Häussinger, Dieter, Bolz, Hanno J.

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Enrichment of target sequences for next-generation sequencing applications in research and diagnostics von Altmüller, Janine, Budde, Birgit S., Nürnberg, Peter

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First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene von Oziębło, Dominika, Sarosiak, Anna, Leja, Marcin L, Budde, Birgit S, Tacikowska, Grażyna, Di Donato, Nataliya, Bolz, Hanno J, Nürnberg, Peter, Skarżyński, Henryk, Ołdak, Monika

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Mutations of KIF14 cause primary microcephaly by impairing cytokinesis von Moawia, Abubakar, Shaheen, Ranad, Rasool, Sajida, Waseem, Syeda Seema, Ewida, Nour, Budde, Birgit, Kawalia, Amit, Motameny, Susanne, Khan, Kamal, Fatima, Ambrin, Jameel, Muhammad, Ullah, Farid, Akram, Talia, Ali, Zafar, Abdullah, Uzma, Irshad, Saba, Höhne, Wolfgang, Noegel, Angelika Anna, Al‐Owain, Mohammed, Hörtnagel, Konstanze, Stöbe, Petra, Baig, Shahid Mahmood, Nürnberg, Peter, Alkuraya, Fowzan Sami, Hahn, Andreas, Hussain, Muhammad Sajid

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Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss von Budde, Birgit S., Aly, Maha Abdelgaber, Mohamed, Mostafa R., Breß, Andreas, Altmüller, Janine, Motameny, Susanne, Kawalia, Amit, Thiele, Holger, Konrad, Kathryn, Becker, Christian, Toliat, Mohammad R., Nürnberg, Gudrun, Sayed, Eman Abdel Fattah, Mohamed, Enass Sayed, Pfister, Markus, Nürnberg, Peter

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Characterisation of nuclear microsatellite markers for Fraxinus excelsior L. and their transferability to six related species von Hartung, Tina, Budde, Katharina Birgit, Gailing, Oliver

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A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family von Ahmad, Ilyas, Khan, Ayaz, Noor Ul Ayan, Hafiza, Budde, Birgit, Altmüller, Janine, Korejo, Asad Aslam, Nürnberg, Gudrun, Thiele, Holger, Tariq, Muhmmad, Nürnberg, Peter, Erdmann, Jeanette

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Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene von Budde, Birgit S, Binner, Priska, Waldmüller, Stephan, Höhne, Wolfgang, Blankenfeldt, Wulf, Hassfeld, Sabine, Brömsen, Jürgen, Dermintzoglou, Anastassia, Wieczorek, Marcus, May, Erik, Kirst, Elisabeth, Selignow, Carmen, Rackebrandt, Kirsten, Müller, Melanie, Goody, Roger S, Vosberg, Hans-Peter, Nürnberg, Peter, Scheffold, Thomas

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Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3 von Budde, Birgit S., Mizumoto, Shuji, Kogawa, Ryo, Becker, Christian, Altmüller, Janine, Thiele, Holger, Rüschendorf, Franz, Toliat, Mohammad R., Kaleschke, Gerrit, Hämmerle, Johannes M., Höhne, Wolfgang, Sugahara, Kazuyuki, Nürnberg, Peter, Kennerknecht, Ingo

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Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 von Kornak, Uwe, Reynders, Ellen, Dimopoulou, Aikaterini, van Reeuwijk, Jeroen, Fischer, Bjoern, Rajab, Anna, Budde, Birgit, Nürnberg, Peter, Foulquier, Francois, Lefeber, Dirk, Urban, Zsolt, Gruenewald, Stephanie, Annaert, Wim, Brunner, Han G, van Bokhoven, Hans, Wevers, Ron, Morava, Eva, Matthijs, Gert, Van Maldergem, Lionel, Mundlos, Stefan

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De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway von Asif, Maria, Kaygusuz, Emrah, Shinawi, Marwan, Nickelsen, Anna, Hsieh, Tzung-Chien, Wagle, Prerana, Budde, Birgit S., Hochscherf, Jennifer, Abdullah, Uzma, Höning, Stefan, Nienberg, Christian, Lindenblatt, Dirk, Noegel, Angelika A., Altmüller, Janine, Thiele, Holger, Motameny, Susanne, Fleischer, Nicole, Segal, Idan, Pais, Lynn, Tinschert, Sigrid, Samra, Nadra Nasser, Savatt, Juliann M., Rudy, Natasha L., De Luca, Chiara, Paola Fortugno, White, Susan M., Krawitz, Peter, Hurst, Anna C.E., Niefind, Karsten, Jose, Joachim, Brancati, Francesco, Nürnberg, Peter, Hussain, Muhammad Sajid

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Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors von Abdel-Salam, Ghada M H, Hellmuth, Susanne, Gradhand, Elise, Käseberg, Stephan, Winter, Jennifer, Pabst, Ann-Sophie, Eid, Maha M, Thiele, Holger, Nürnberg, Peter, Budde, Birgit S, Toliat, Mohammad Reza, Brecht, Ines B, Schroeder, Christopher, Gschwind, Axel, Ossowski, Stephan, Häuser, Friederike, Rossmann, Heidi, Abdel-Hamid, Mohamed S, Hegazy, Ibrahim, Mohamed, Ahmed G, Schneider, Dominik T, Bertoli-Avella, Aida, Bauer, Peter, Pearring, Jillian N, Pfundt, Rolph, Hoischen, Alexander, Gilissen, Christian, Strand, Dennis, Zechner, Ulrich, Tashkandi, Soha A, Faqeih, Eissa A, Stemmann, Olaf, Strand, Susanne, Bolz, Hanno J

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tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia von Budde, Birgit S, Namavar, Yasmin, Barth, Peter G, Poll-The, Bwee Tien, Nürnberg, Gudrun, Becker, Christian, van Ruissen, Fred, Weterman, Marian A J, Fluiter, Kees, T te Beek, Erik, Aronica, Eleonora, van der Knaap, Marjo S, Höhne, Wolfgang, Toliat, Mohammad Reza, Crow, Yanick J, Steinlin, Maja, Voit, Thomas, Roelens, Filip, Brussel, Wim, Brockmann, Knut, Kyllerman, Marten, Boltshauser, Eugen, Hammersen, Gerhard, Willemsen, Michèl, Basel-Vanagaite, Lina, Krägeloh-Mann, Ingeborg, de Vries, Linda S, Sztriha, Laszlo, Muntoni, Francesco, Ferrie, Colin D, Battini, Roberta, Hennekam, Raoul C M, Grillo, Eugenio, Beemer, Frits A, Stoets, Loes M E, Wollnik, Bernd, Nürnberg, Peter, Baas, Frank

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Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin von Hennies, Hans Christian, Kornak, Uwe, Zhang, Haikuo, Egerer, Johannes, Zhang, Xin, Seifert, Wenke, Kühnisch, Jirko, Budde, Birgit, Nätebus, Marc, Brancati, Francesco, Wilcox, William R, Müller, Dietmar, Kaplan, Paige B, Rajab, Anna, Zampino, Giuseppe, Fodale, Valentina, Dallapiccola, Bruno, Newman, William, Metcalfe, Kay, Clayton-Smith, Jill, Tassabehji, May, Steinmann, Beat, Barr, Francis A, Nürnberg, Peter, Wieacker, Peter, Mundlos, Stefan

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Hyrcanian forests—Stable rear-edge populations harbouring high genetic diversity of Fraxinus excelsior, a common European tree species von Erichsen, Eva Ortvald, Budde, Katharina Birgit, Sagheb-Talebi, Khosro, Bagnoli, Francesca, Vendramin, Giovanni Giuseppe, Hansen, Ole Kim

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A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia von Stange, Katja, Désir, Julie, Kakar, Naseebullah, Mueller, Thomas D, Budde, Birgit S, Gordon, Christopher T, Horn, Denise, Seemann, Petra, Borck, Guntram

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Genetic diversity and fine-scale spatial genetic structure of the near-threatened Pinus gerardiana in Gardiz, Afghanistan von Moosavi, Sayed Jalal, Budde, Katharina Birgit, Mueller, Markus, Gailing, Oliver

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Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation von Knoblauch, Hans, Geier, Christian, Adams, Stephanie, Budde, Birgit, Rudolph, André, Zacharias, Ute, Schulz-Menger, Jeannette, Spuler, Andreas, Yaou, Rabah Ben, Nürnberg, Peter, Voit, Thomas, Bonne, Gisele, Spuler, Simone

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An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan von Rasool, Sajida, Baig, Jamshaid Mahmood, Moawia, Abubakar, Ahmad, Ilyas, Iqbal, Maria, Waseem, Syeda Seema, Asif, Maria, Abdullah, Uzma, Makhdoom, Ehtisham Ul Haq, Kaygusuz, Emrah, Zakaria, Muhammad, Ramzan, Shafaq, Haque, Saif ul, Mir, Asif, Anjum, Iram, Fiaz, Mehak, Ali, Zafar, Tariq, Muhammad, Saba, Neelam, Hussain, Wajid, Budde, Birgit, Irshad, Saba, Noegel, Angelika Anna, Höning, Stefan, Baig, Shahid Mahmood, Nürnberg, Peter, Hussain, Muhammad Sajid

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Gsdma3(I359N) is a novel ENU-induced mutant mouse line for studying the function of Gasdermin A3 in the hair follicle and epidermis von Kumar, Sudhir, Rathkolb, Birgit, Budde, Birgit S, Nürnberg, Peter, de Angelis, Martin Hrabé, Aigner, Bernhard, Schneider, Marlon R

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