Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry von Jae, Lucas T., Raaben, Matthijs, Riemersma, Moniek, van Beusekom, Ellen, Blomen, Vincent A., Velds, Arno, Kerkhoven, Ron. M., Carette, Jan E., Topaloglu, Haluk, Meinecke, Peter, Wessels, Marja W., Lefeber, Dirk J., Whelan, Sean P., van Bokhoven, Hans, Brummelkamp, Thijn R.

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Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype von Kortüm, Fanny, Marquardt, Iris, Alawi, Malik, Korenke, Georg Christoph, Spranger, Stephanie, Meinecke, Peter, Kutsche, Kerstin

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Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities von Schneeberger, Pauline E., von Elsner, Leonie, Barker, Emma L., Meinecke, Peter, Marquardt, Iris, Alawi, Malik, Steindl, Katharina, Joset, Pascal, Rauch, Anita, Zwijnenburg, Petra J.G., Weiss, Marjan M., Merry, Catherine L.R., Kutsche, Kerstin

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The German and the Liechtenstein family foundation after the German foundation law reform von Meinecke, Peter

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Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: Expanded clinical spectrum von Horn, Denise, Krawitz, Peter, Mannhardt, Anca, Korenke, Georg Christoph, Meinecke, Peter

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Next-generation sequencing in X-linked intellectual disability von Tzschach, Andreas, Grasshoff, Ute, Beck-Woedl, Stefanie, Dufke, Claudia, Bauer, Claudia, Kehrer, Martin, Evers, Christina, Moog, Ute, Oehl-Jaschkowitz, Barbara, Di Donato, Nataliya, Maiwald, Robert, Jung, Christine, Kuechler, Alma, Schulz, Solveig, Meinecke, Peter, Spranger, Stephanie, Kohlhase, Jürgen, Seidel, Jörg, Reif, Silke, Rieger, Manuela, Riess, Angelika, Sturm, Marc, Bickmann, Julia, Schroeder, Christopher, Dufke, Andreas, Riess, Olaf, Bauer, Peter

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Wiedemann–Steiner syndrome: Three further cases von Koenig, Rainer, Meinecke, Peter, Kuechler, Alma, Schäfer, Dieter, Müller, Dietmar

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Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I von Momeni, Parastoo, Glöckner, Gernot, Schmidt, Olaf, von Holtum, Diane, Albrecht, Beate, Gillessen-Kaesbach, Gabriele, Hennekam, Raoul, Meinecke, Peter, Zabel, Bernhard, Rosenthal, André, Horsthemke, Bernhard, Lüdecke, Hermann-Josef

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TMCO3, a Putative K + :Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans von Holling, Tess, Brylka, Laura, Scholz, Tasja, Bierhals, Tatjana, Herget, Theresia, Meinecke, Peter, Schinke, Thorsten, Oheim, Ralf, Kutsche, Kerstin

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A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: Report of seven cases von Kim, Ok-Hwa, Nishimura, Gen, Song, Hae-Ryong, Matsui, Yoshito, Sakazume, Satoru, Yamada, Masanobu, Narumi, Yoko, Alanay, Yasemin, Unger, Sheila, Cho, Tae-Joon, Park, Sung Sup, Ikegawa, Shiro, Meinecke, Peter, Superti-Furga, Andrea

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Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype von Abdalla, Ebtesam, Alawi, Malik, Meinecke, Peter, Kutsche, Kerstin, Harms, Frederike L.

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases von Mensah, Martin A., Niskanen, Henri, Magalhaes, Alexandre P., Basu, Shaon, Kircher, Martin, Sczakiel, Henrike L., Reiter, Alisa M. V., Elsner, Jonas, Meinecke, Peter, Biskup, Saskia, Chung, Brian H. Y., Dombrowsky, Gregor, Eckmann-Scholz, Christel, Hitz, Marc Phillip, Hoischen, Alexander, Holterhus, Paul-Martin, Hülsemann, Wiebke, Kahrizi, Kimia, Kalscheuer, Vera M., Kan, Anita, Krumbiegel, Mandy, Kurth, Ingo, Leubner, Jonas, Longardt, Ann Carolin, Moritz, Jörg D., Najmabadi, Hossein, Skipalova, Karolina, Snijders Blok, Lot, Tzschach, Andreas, Wiedersberg, Eberhard, Zenker, Martin, Garcia-Cabau, Carla, Buschow, René, Salvatella, Xavier, Kraushar, Matthew L., Mundlos, Stefan, Caliebe, Almuth, Spielmann, Malte, Horn, Denise, Hnisz, Denes

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Next-generation sequencing in X-linked intellectual disability von Tzschach, Andreas, Grasshoff, Ute, Beck-Woedl, Stefanie, Dufke, Claudia, Bauer, Claudia, Kehrer, Martin, Evers, Christina, Moog, Ute, Oehl-Jaschkowitz, Barbara, Di Donato, Nataliya, Maiwald, Robert, Jung, Christine, Kuechler, Alma, Schulz, Solveig, Meinecke, Peter, Spranger, Stephanie, Kohlhase, Jürgen, Seidel, Jörg, Reif, Silke, Rieger, Manuela, Riess, Angelika, Sturm, Marc, Bickmann, Julia, Schroeder, Christopher, Dufke, Andreas, Riess, Olaf, Bauer, Peter

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Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome von Krawitz, Peter M, Schweiger, Michal R, Rödelsperger, Christian, Marcelis, Carlo, Kölsch, Uwe, Meisel, Christian, Stephani, Friederike, Kinoshita, Taroh, Murakami, Yoshiko, Bauer, Sebastian, Isau, Melanie, Fischer, Axel, Dahl, Andreas, Kerick, Martin, Hecht, Jochen, Köhler, Sebastian, Jäger, Marten, Grünhagen, Johannes, de Condor, Birgit Jonske, Doelken, Sandra, Brunner, Han G, Meinecke, Peter, Passarge, Eberhard, Thompson, Miles D, Cole, David E, Horn, Denise, Roscioli, Tony, Mundlos, Stefan, Robinson, Peter N

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Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2 von Dathe, Katarina, Kjaer, Klaus W., Brehm, Anja, Meinecke, Peter, Nürnberg, Peter, Neto, Jordao C., Brunoni, Decio, Tommerup, Nils, Ott, Claus E., Klopocki, Eva, Seemann, Petra, Mundlos, Stefan

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Bi-allelic pathogenic variants in HS2ST1 cause a syndrome characterized by developmental delay and corpus callosum, skeletal, and renal abnormalities von Schneeberger, Pauline E, von Elsner, Leonie, Barker, Emma L, Meinecke, Peter, Marquardt, Iris, Alawi, Malik, Steindl, Katharina, Joset, Pascal, Rauch, Anita, Zwijnenburg, Petra J G, Weiss, Marjan M, Merry, Catherine L R, Kutsche, Kerstin

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Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity von Lausch, Ekkehart, Janecke, Andreas, Bros, Matthias, Trojandt, Stefanie, Alanay, Yasemin, De Laet, Corinne, Hübner, Christian A, Meinecke, Peter, Nishimura, Gen, Matsuo, Mari, Hirano, Yoshiko, Tenoutasse, Sylvie, Kiss, Andrea, Machado Rosa, Rafael Fabiano, Unger, Sharon L, Renella, Raffaele, Bonafé, Luisa, Spranger, Jürgen, Unger, Sheila, Zabel, Bernhard, Superti-Furga, Andrea

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A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis von Niedernhofer, Laura J., Garinis, George A., Raams, Anja, Lalai, Astrid S., Robinson, Andria Rasile, Appeldoorn, Esther, Odijk, Hanny, Oostendorp, Roos, Ahmad, Anwaar, van Leeuwen, Wibeke, Theil, Arjan F., Vermeulen, Wim, van der Horst, Gijsbertus T. J., Meinecke, Peter, Kleijer, Wim J., Vijg, Jan, Jaspers, Nicolaas G. J., Hoeijmakers, Jan H. J.

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases von Mensah, Martin A, Niskanen, Henri, Magalhaes, Alexandre P, Basu, Shaon, Kircher, Martin, Sczakiel, Henrike L, Reiter, Alisa M. V, Elsner, Jonas, Meinecke, Peter, Biskup, Saskia, Chung, Brian H. Y, Dombrowsky, Gregor, Eckmann-Scholz, Christel, Hitz, Marc Phillip, Hoischen, Alexander, Holterhus, Paul-Martin, Hülsemann, Wiebke, Kahrizi, Kimia, Kalscheuer, Vera M, Kan, Anita, Krumbiegel, Mandy, Kurth, Ingo, Leubner, Jonas, Longardt, Ann Carolin, Moritz, Jörg D, Najmabadi, Hossein, Skipalova, Karolina, Snijders Blok, Lot, Tzschach, Andreas, Wiedersberg, Eberhard, Zenker, Martin, Garcia Cabau, Carla, Buschow, René, Salvatella i Giralt, Xavier, Kraushar, Matthew L, Mundlos, Stefan, Caliebe, Almuth, Spielmann, Malte, Horn, Denise, Hnisz, Denes

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Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, an... von Pasutto, Francesca, Sticht, Heinrich, Hammersen, Gerhard, Gillessen-Kaesbach, Gabriele, FitzPatrick, David R., Nürnberg, Gudrun, Brasch, Frank, Schirmer-Zimmermann, Heidemarie, Tolmie, John L., Chitayat, David, Houge, Gunnar, Fernández-Martínez, Lorena, Keating, Sarah, Mortier, Geert, Hennekam, Raoul C.M., von der Wense, Axel, Slavotinek, Anne, Meinecke, Peter, Bitoun, Pierre, Becker, Christian, Nürnberg, Peter, Reis, André, Rauch, Anita

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