Multicentric pilot study to standardize clinical whole exome sequencing (WES) for cancer patients by Menzel, Michael, Ossowski, Stephan, Kral, Sebastian, Metzger, Patrick, Horak, Peter, Marienfeld, Ralf, Boerries, Melanie, Wolter, Steffen, Ball, Markus, Neumann, Olaf, Armeanu-Ebinger, Sorin, Schroeder, Christopher, Matysiak, Uta, Goldschmid, Hannah, Schipperges, Vincent, Fürstberger, Axel, Allgäuer, Michael, Eberhardt, Timo, Niewöhner, Jakob, Blaumeiser, Andreas, Ploeger, Carolin, Haack, Tobias Bernd, Tay, Timothy Kwang Yong, Kelemen, Olga, Pauli, Thomas, Kirchner, Martina, Kluck, Klaus, Ott, Alexander, Renner, Marcus, Admard, Jakob, Gschwind, Axel, Lassmann, Silke, Kestler, Hans, Fend, Falko, Illert, Anna Lena, Werner, Martin, Möller, Peter, Seufferlein, Thomas Theodor Werner, Malek, Nisar, Schirmacher, Peter, Fröhling, Stefan, Kazdal, Daniel, Budczies, Jan, Stenzinger, Albrecht

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Clinical, biochemical, and genetic spectrum of seven new patients with NFU1 deficiency by Uwe eAhting, Johannes A Mayr, Arnaud V Vanlander, Steven A Hardy, Saikat eSantra, Christine eMakowski, Charlotte L Alston, Franz A Zimmermann, Lucia eAbela, Barbara ePlecko, Marianne eRohrbach, Stephanie eSpranger, Sara eSeneka, Boris eRolinski, Angela eHagendorff, Maja eHempel, Wolfgang eSperl, Thomas eMeitinger, Thomas eMeitinger, Joél eSmet, Robert W Taylor, Rudy eVan Coster, Peter eFreisinger, Holger eProkisch, Holger eProkisch, Tobias Bernd Haack, Tobias Bernd Haack

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Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants by Weisschuh, Nicole, Mazzola, Pascale, Bertrand, Miriam, Haack, Tobias B., Wissinger, Bernd, Kohl, Susanne, Stingl, Katarina

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Clinical Phenotype of PDE6B -Associated Retinitis Pigmentosa by Kuehlewein, Laura, Zobor, Ditta, Stingl, Katarina, Kempf, Melanie, Nasser, Fadi, Bernd, Antje, Biskup, Saskia, Cremers, Frans P M, Khan, Muhammad Imran, Mazzola, Pascale, Schäferhoff, Karin, Heinrich, Tilman, Haack, Tobias B, Wissinger, Bernd, Zrenner, Eberhart, Weisschuh, Nicole, Kohl, Susanne

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First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy - a case report by Weisschuh, Nicole, Mazzola, Pascale, Heinrich, Tilman, Haack, Tobias, Wissinger, Bernd, Tonagel, Felix, Kelbsch, Carina

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KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum by Park, Joohyun, Koko, Mahmoud, Hedrich, Ulrike B. S., Hermann, Andreas, Cremer, Kirsten, Haberlandt, Edda, Grimmel, Mona, Alhaddad, Bader, Beck‐Woedl, Stefanie, Harrer, Merle, Karall, Daniela, Kingelhoefer, Lisa, Tzschach, Andreas, Matthies, Lars C., Strom, Tim M., Ringelstein, Erich Bernd, Sturm, Marc, Engels, Hartmut, Wolff, Markus, Lerche, Holger, Haack, Tobias B.

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Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal Dystrophy by BODENBENDER, JAN-PHILIPP, BETHGE, LEON, STINGL, KATARINA, MAZZOLA, PASCALE, HAACK, TOBIAS, BISKUP, SASKIA, WISSINGER, BERND, WEISSCHUH, NICOLE, KOHL, SUSANNE, KÜHLEWEIN, LAURA

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Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process by Braun, Frederik, Gangfuß, Andrea, Stöbe, Petra, Haack, Tobias B., Schweiger, Bernd, Roos, Andreas, Schara, Ulrike

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Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis by Kožich, Viktor, Schwahn, Bernd C, Sokolová, Jitka, Křížková, Michaela, Ditroi, Tamas, Krijt, Jakub, Khalil, Youssef, Křížek, Tomáš, Vaculíková-Fantlová, Tereza, Stibůrková, Blanka, Mills, Philippa, Clayton, Peter, Barvíková, Kristýna, Blessing, Holger, Sykut-Cegielska, Jolanta, Dionisi-Vici, Carlo, Gasperini, Serena, García-Cazorla, Ángeles, Haack, Tobias B, Honzík, Tomáš, Ješina, Pavel, Kuster, Alice, Laugwitz, Lucia, Martinelli, Diego, Porta, Francesco, Santer, René, Schwarz, Guenter, Nagy, Peter

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Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy by Magrinelli, Francesca, Cali, Elisa, Braga, Vinícius Lopes, Yis, Uluç, Tomoum, Hoda, Shamseldin, Hanan, Raiman, Julian, Kernstock, Christoph, Rezende Filho, Flávio Moura, Barsottini, Orlando Graziani Povoas, Taylor, Robert W., Østergaard, Elsebet, Tamim, Abdullah, Schäferhoff, Karin, Sallum, Juliana Maria Ferraz, Zaki, Maha S., Kok, Fernando, Bhatia, Kailash P., Wissinger, Bernd, Sergeant, Kate, Haack, Tobias B., Horvath, Rita, Hiz, Semra, Alkuraya, Fowzan S., Houlden, Henry, Pedroso, José Luiz, Maroofian, Reza

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Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H 2 S homeostasis by Kožich, Viktor, Schwahn, Bernd C, Sokolová, Jitka, Křížková, Michaela, Ditroi, Tamas, Krijt, Jakub, Khalil, Youssef, Křížek, Tomáš, Vaculíková-Fantlová, Tereza, Stibůrková, Blanka, Mills, Philippa, Clayton, Peter, Barvíková, Kristýna, Blessing, Holger, Sykut-Cegielska, Jolanta, Dionisi-Vici, Carlo, Gasperini, Serena, García-Cazorla, Ángeles, Haack, Tobias B, Honzík, Tomáš, Ješina, Pavel, Kuster, Alice, Laugwitz, Lucia, Martinelli, Diego, Porta, Francesco, Santer, René, Schwarz, Guenter, Nagy, Peter

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