Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions von Lupiáñez, Darío G., Kraft, Katerina, Heinrich, Verena, Krawitz, Peter, Brancati, Francesco, Klopocki, Eva, Horn, Denise, Kayserili, Hülya, Opitz, John M., Laxova, Renata, Santos-Simarro, Fernando, Gilbert-Dussardier, Brigitte, Wittler, Lars, Borschiwer, Marina, Haas, Stefan A., Osterwalder, Marco, Franke, Martin, Timmermann, Bernd, Hecht, Jochen, Spielmann, Malte, Visel, Axel, Mundlos, Stefan

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Walking the Interactome for Prioritization of Candidate Disease Genes von Köhler, Sebastian, Bauer, Sebastian, Horn, Denise, Robinson, Peter N.

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The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease von Robinson, Peter N., Köhler, Sebastian, Bauer, Sebastian, Seelow, Dominik, Horn, Denise, Mundlos, Stefan

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Cohen Syndrome-associated Protein, COH1, Is a Novel, Giant Golgi Matrix Protein Required for Golgi Integrity von Seifert, Wenke, Kühnisch, Jirko, Maritzen, Tanja, Horn, Denise, Haucke, Volker, Hennies, Hans Christian

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Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies von Knaus, Alexej, Kortüm, Fanny, Kleefstra, Tjitske, Stray-Pedersen, Asbjørg, Đukić, Dejan, Murakami, Yoshiko, Gerstner, Thorsten, van Bokhoven, Hans, Iqbal, Zafar, Horn, Denise, Kinoshita, Taroh, Hempel, Maja, Krawitz, Peter M.

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Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy Study von Reiter, Alisa Maria Vittoria, Pantel, Jean Tori, Danyel, Magdalena, Horn, Denise, Ott, Claus-Eric, Mensah, Martin Atta

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Introduction to “Displacement” von Horn, Denise M., Parekh, Serena

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Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders von Mochel, Fanny, Rastetter, Agnes, Ceulemans, Berten, Platzer, Konrad, Yang, Sandra, Shinde, Deepali N., Helbig, Katherine L., Lopergolo, Diego, Mari, Francesca, Renieri, Alessandra, Benetti, Elisa, Canitano, Roberto, Waisfisz, Quinten, Plomp, Astrid S., Huisman, Sylvia A., Wilson, Golder N., Cathey, Sara S., Louie, Raymond J., Del Gaudio, Daniela, Waggoner, Darrel, Kacker, Shawn, Nugent, Kimberly M., Roeder, Elizabeth R., Bruel, Ange-Line, Thevenon, Julien, Ehmke, Nadja, Horn, Denise, Holtgrewe, Manuel, Kaiser, Frank J., Kamphausen, Susanne B., Abou Jamra, Rami, Weckhuysen, Sarah, Dalle, Carine, Depienne, Christel

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Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes von Schöpflin, Robert, Melo, Uirá Souto, Moeinzadeh, Hossein, Heller, David, Laupert, Verena, Hertzberg, Jakob, Holtgrewe, Manuel, Alavi, Nico, Klever, Marius-Konstantin, Jungnitsch, Julius, Comak, Emel, Türkmen, Seval, Horn, Denise, Duffourd, Yannis, Faivre, Laurence, Callier, Patrick, Sanlaville, Damien, Zuffardi, Orsetta, Tenconi, Romano, Kurtas, Nehir Edibe, Giglio, Sabrina, Prager, Bettina, Latos-Bielenska, Anna, Vogel, Ida, Bugge, Merete, Tommerup, Niels, Spielmann, Malte, Vitobello, Antonio, Kalscheuer, Vera M., Vingron, Martin, Mundlos, Stefan

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Kagami‐Ogata syndrome: an important differential diagnosis to Beckwith‐Wiedemann syndrome von Altmann, Judith, Horn, Denise, Korinth, Dirk, Eggermann, Thomas, Henrich, Wolfgang, Verlohren, Stefan

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A restricted spectrum of NRAS mutations causes Noonan syndrome von Gelb, Bruce D, Gremer, Lothar, Digilio, Cristina, Dentici, Maria L, Roberts, Amy E, Zampino, Giuseppe, Kratz, Christian P, Dallapiccola, Bruno, Mazzanti, Laura, Stuppia, Liborio, Pantaleoni, Francesca, Ahmadian, Mohammad R, Zenker, Martin, Lepri, Francesca, Kutsche, Kerstin, Silengo, Margherita Cirillo, Joshi, Victoria A, König, Rainer, Carta, Claudio, Horn, Denise, Merbitz-Zahradnik, Torsten, Pennacchio, Len A, Mundlos, Stefan, Tartaglia, Marco, Dvorsky, Radovan, Wittinghofer, Alfred, Cirstea, Ion C, Seemanova, Eva, Patton, Michael A, Rossi, Cesare, Kucherlapati, Raju S

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Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia von Latham, Sharissa L., Ehmke, Nadja, Reinke, Patrick Y. A., Taft, Manuel H., Eicke, Dorothee, Reindl, Theresia, Stenzel, Werner, Lyons, Michael J., Friez, Michael J., Lee, Jennifer A., Hecker, Ramona, Frühwald, Michael C., Becker, Kerstin, Neuhann, Teresa M., Horn, Denise, Schrock, Evelin, Niehaus, Indra, Sarnow, Katharina, Grützmann, Konrad, Gawehn, Luzie, Klink, Barbara, Rump, Andreas, Chaponnier, Christine, Figueiredo, Constanca, Knöfler, Ralf, Manstein, Dietmar J., Di Donato, Nataliya

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Musculoskeletal Disease in MDA5‐Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy von de Carvalho, Luciana Martins, Ngoumou, Gonza, Park, Ji Woo, Ehmke, Nadja, Deigendesch, Nikolaus, Kitabayashi, Naoki, Melki, Isabelle, Souza, Flávio Falcäo L., Tzschach, Andreas, Nogueira‐Barbosa, Marcello H., Ferriani, Virgínia, Louzada‐Junior, Paulo, Marques, Wilson, Lourenço, Charles M., Horn, Denise, Kallinich, Tilmann, Stenzel, Werner, Hur, Sun, Rice, Gillian I., Crow, Yanick J.

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Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1 von Lenz, Dominic, Smith, Desirée E. C., Crushell, Ellen, Husain, Ralf A., Salomons, Gajja S., Alhaddad, Bader, Bernstein, Jonathan A., Bianzano, Alyssa, Biskup, Saskia, Brennenstuhl, Heiko, Caldari, Dominique, Dikow, Nicola, Haack, Tobias B., Hanson-Kahn, Andrea, Harting, Inga, Horn, Denise, Hughes, Joanne, Huijberts, Maya, Isidor, Bertrand, Kathemann, Simone, Kopajtich, Robert, Kotzaeridou, Urania, Küry, Sébastien, Lainka, Elke, Laugwitz, Lucia, Lupski, James R., Posey, Jennifer E., Reynolds, Claire, Rosenfeld, Jill A., Schröter, Julian, Vansenne, Fleur, Wagner, Matias, Weiß, Claudia, Wolffenbuttel, Bruce H. R., Wortmann, Saskia B., Kölker, Stefan, Hoffmann, Georg F., Prokisch, Holger, Mendes, Marisa I., Staufner, Christian

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A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome von Twigg, Stephen R.F., Hufnagel, Robert B., Miller, Kerry A., Zhou, Yan, McGowan, Simon J., Taylor, John, Craft, Jude, Taylor, Jenny C., Santoro, Stephanie L., Huang, Taosheng, Hopkin, Robert J., Brady, Angela F., Clayton-Smith, Jill, Clericuzio, Carol L., Grange, Dorothy K., Groesser, Leopold, Hafner, Christian, Horn, Denise, Temple, I. Karen, Dobyns, William B., Curry, Cynthia J., Jones, Marilyn C., Wilkie, Andrew O.M.

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Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel von Bauer, Christiane K., Holling, Tess, Horn, Denise, Laço, Mário Nôro, Abdalla, Ebtesam, Omar, Omneya Magdy, Alawi, Malik, Kutsche, Kerstin

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Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis von Knaus, Alexej, Pantel, Jean Tori, Pendziwiat, Manuela, Hajjir, Nurulhuda, Zhao, Max, Hsieh, Tzung-Chien, Schubach, Max, Gurovich, Yaron, Fleischer, Nicole, Jäger, Marten, Köhler, Sebastian, Muhle, Hiltrud, Korff, Christian, Møller, Rikke S, Bayat, Allan, Calvas, Patrick, Chassaing, Nicolas, Warren, Hannah, Skinner, Steven, Louie, Raymond, Evers, Christina, Bohn, Marc, Christen, Hans-Jürgen, van den Born, Myrthe, Obersztyn, Ewa, Charzewska, Agnieszka, Endziniene, Milda, Kortüm, Fanny, Brown, Natasha, Robinson, Peter N, Schelhaas, Helenius J, Weber, Yvonne, Helbig, Ingo, Mundlos, Stefan, Horn, Denise, Krawitz, Peter M

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Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations von Rainger, Joe, Pehlivan, Davut, Johansson, Stefan, Bengani, Hemant, Sanchez-Pulido, Luis, Williamson, Kathleen A., Ture, Mehmet, Barker, Heather, Rosendahl, Karen, Spranger, Jürgen, Horn, Denise, Meynert, Alison, Floyd, James A.B., Prescott, Trine, Anderson, Carl A., Rainger, Jacqueline K., Karaca, Ender, Gonzaga-Jauregui, Claudia, Jhangiani, Shalini, Muzny, Donna M., Seawright, Anne, Soares, Dinesh C., Kharbanda, Mira, Murday, Victoria, Finch, Andrew, Hurles, Matthew, FitzPatrick, David R., Al-Turki, Saeed, Anderson, Carl, Barroso, Inês, Beales, Philip, Bentham, Jamie, Bhattacharya, Shoumo, Carss, Keren, Chatterjee, Krishna, Cirak, Sebhattin, Cosgrove, Catherine, Daly, Allan, Floyd, Jamie, Franklin, Chris, Futema, Marta, Humphries, Steve, McCarthy, Shane, Mitchison, Hannah, Muntoni, Francesco, Onoufriadis, Alexandros, Parker, Victoria, Payne, Felicity, Plagnol, Vincent, Raymond, Lucy, Savage, David, Scambler, Peter, Schmidts, Miriam, Semple, Robert, Serra, Eva, Stalker, Jim, van Kogelenberg, Margriet, Vijayarangakannan, Parthiban, Walter, Klaudia, Wood, Gretta, Gibbs, Richard A., van Heyningen, Veronica, Taylor, Martin S., Yakut, Tahsin, Knappskog, Per M., Hurles, Matthew E., Ponting, Chris P., Lupski, James R., Houge, Gunnar, FitzPatrick, David R.

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Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders von Burglen, Lydie, Van Hoeymissen, Evelien, Qebibo, Leila, Barth, Magalie, Belnap, Newell, Boschann, Felix, Depienne, Christel, De Clercq, Katrien, Douglas, Andrew G L, Fitzgerald, Mark P, Foulds, Nicola, Garel, Catherine, Helbig, Ingo, Held, Katharina, Horn, Denise, Janssen, Annelies, Kaindl, Angela M, Narayanan, Vinodh, Prager, Christina, Rupin-Mas, Mailys, Afenjar, Alexandra, Zhao, Siyuan, Ramaekers, Vincent Th, Ruggiero, Sarah M, Thomas, Simon, Valence, Stéphanie, Van Maldergem, Lionel, Rohacs, Tibor, Rodriguez, Diana, Dyment, David, Voets, Thomas, Vriens, Joris

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Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities von Horn, Denise, Siebert, Eberhard, Seidel, Ulrich, Rost, Imma, Mayer, Karin, Abou Jamra, Rami, Mitter, Diana, Kornak, Uwe

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