Search Results - "HORN, Denise"

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions by 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

“…Mammalian genomes are organized into megabase-scale topologically associated domains (TADs). We demonstrate that disruption of TADs can rewire long-range…”
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Walking the Interactome for Prioritization of Candidate Disease Genes by Köhler, Sebastian, Bauer, Sebastian, Horn, Denise, Robinson, Peter N.

“…The identification of genes associated with hereditary disorders has contributed to improving medical care and to a better understanding of gene functions,…”
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The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease by Robinson, Peter N., Köhler, Sebastian, Bauer, Sebastian, Seelow, Dominik, Horn, Denise, Mundlos, Stefan

“…There are many thousands of hereditary diseases in humans, each of which has a specific combination of phenotypic features, but computational analysis of…”
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Cohen Syndrome-associated Protein, COH1, Is a Novel, Giant Golgi Matrix Protein Required for Golgi Integrity by Seifert, Wenke, Kühnisch, Jirko, Maritzen, Tanja, Horn, Denise, Haucke, Volker, Hennies, Hans Christian

“…Loss-of-function mutations in the gene COH1, also known as VPS13B, lead to autosomal recessive Cohen syndrome. However, the cellular distribution and function…”
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Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies by 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.

“…The glycosylphosphatidylinositol (GPI) anchor links over 150 proteins to the cell surface and is present on every cell type. Many of these proteins play…”
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Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome by Zemojtel, Tomasz, Köhler, Sebastian, Mackenroth, Luisa, Jäger, Marten, Hecht, Jochen, Krawitz, Peter, Graul-Neumann, Luitgard, Doelken, Sandra, Ehmke, Nadja, Spielmann, Malte, Oien, Nancy Christine, Schweiger, Michal R, Krüger, Ulrike, Frommer, Götz, Fischer, Björn, Kornak, Uwe, Flöttmann, Ricarda, Ardeshirdavani, Amin, Moreau, Yves, Lewis, Suzanna E, Haendel, Melissa, Smedley, Damian, Horn, Denise, Mundlos, Stefan, Robinson, Peter N

“…Less than half of patients with suspected genetic disease receive a molecular diagnosis. We have therefore integrated next-generation sequencing (NGS),…”
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Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy Study by Reiter, Alisa Maria Vittoria, Pantel, Jean Tori, Danyel, Magdalena, Horn, Denise, Ott, Claus-Eric, Mensah, Martin Atta

“…While characteristic facial features provide important clues for finding the correct diagnosis in genetic syndromes, valid assessment can be challenging. The…”
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Introduction to “Displacement” by Horn, Denise M., Parekh, Serena

“…This piece introduces the rationale for the special issue and highlights some of its key features. The authors have identified four broad themes in this issue,…”
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Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders by Mochel, Fanny, Rastetter, Agnès, 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, Gaudio, Daniela Del, 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

“…KCNN2 encodes the small conductance calcium-activated potassium channel 2 (SK2). Rodent models with spontaneous Kcnn2 mutations show abnormal gait and…”
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Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes by 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

“…Structural variants are a common cause of disease and contribute to a large extent to inter-individual variability, but their detection and interpretation…”
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Kagami‐Ogata syndrome: an important differential diagnosis to Beckwith‐Wiedemann syndrome by Altmann, Judith, Horn, Denise, Korinth, Dirk, Eggermann, Thomas, Henrich, Wolfgang, Verlohren, Stefan

“…We report the case of a fetus with sonographic characteristics of Beckwith‐Wiedemann syndrome (BWS). A 30‐year‐old gravida 2 para 1 was referred to our fetal…”
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A restricted spectrum of NRAS mutations causes Noonan syndrome by 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

“…Noonan syndrome, a developmental disorder characterized by congenital heart defects, reduced growth, facial dysmorphism and variable cognitive deficits, is…”
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Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia by 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

“…Germline mutations in the ubiquitously expressed ACTB , which encodes β-cytoplasmic actin (CYA), are almost exclusively associated with Baraitser-Winter…”
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Musculoskeletal Disease in MDA5‐Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy by 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.

“…Objective To define the molecular basis of a multisystem phenotype with progressive musculoskeletal disease of the hands and feet, including camptodactyly,…”
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Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1 by 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

“…Purpose Biallelic variants in LARS1 , coding for the cytosolic leucyl-tRNA synthetase, cause infantile liver failure syndrome 1 (ILFS1). Since its description…”
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A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome by 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.

“…Curry-Jones syndrome (CJS) is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal…”
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Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel by Bauer, Christiane K., Holling, Tess, Horn, Denise, Laço, Mário Nôro, Abdalla, Ebtesam, Omar, Omneya Magdy, Alawi, Malik, Kutsche, Kerstin

“…Dominant KCNQ1 variants are well-known for underlying cardiac arrhythmia syndromes. The two heterozygous KCNQ1 missense variants, R116L and P369L, cause an…”
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Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis by 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

“…Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for…”
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Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations by 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.

“…We identified four different missense mutations in the single-exon gene MAB21L2 in eight individuals with bilateral eye malformations from five unrelated…”
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Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders by 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

“…TRPM3 is a temperature- and neurosteroid-sensitive plasma membrane cation channel expressed in a variety of neuronal and non-neuronal cells. Recently, rare de…”
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