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Dr. med. Alma Küchler

Funktionen

  • Facharzt/-ärztin, Institut für Humangenetik

Die folgenden Publikationen sind in der Online-Universitätsbibliographie der Universität Duisburg-Essen verzeichnet. Weitere Informationen finden Sie gegebenenfalls auch auf den persönlichen Webseiten der Person.

    Artikel in Zeitschriften

  • Kirchberg, Ina; Lainka, Elke; Gangfuß, Andrea; Küchler, Alma; Baertling, Fabian; Schlieben, Lea D.; Lenz, Dominic; Tschiedel, Eva Charlotte
    Distinct neonatal hyperammonemia and liver synthesis dysfunction : Case report of a severe MEGDHEL syndrome
    In: Frontiers in Pediatrics Jg. 12 (2024) 1278047
    Online Volltext: dx.doi.org/ (Open Access)
  • Husson, Thomas; Lecoquierre, François; Nicolas, Gaël; Richard, Anne-Claire; Afenjar, Alexandra; Audebert-Bellanger, Séverine; Badens, Catherine; Bilan, Frédéric; Bizaoui, Varoona; Boland, Anne; Bonnet-Dupeyron, Marie-Noëlle; Brischoux-Boucher, Elise; Bonnet, Céline; Bournez, Marie; Boute, Odile; Brunelle, Perrine; Caumes, Roseline; Charles, Perrine; Chassaing, Nicolas; Chatron, Nicolas; Cogné, Benjamin; Colin, Estelle; Cormier-Daire, Valérie; Dard, Rodolphe; Dauriat, Benjamin; Delanne, Julian; Deleuze, Jean-François; Demurger, Florence; Denommé-Pichon, Anne-Sophie; Depienne, Christel; Dieux, Anne; Dubourg, Christèle; Edery, Patrick; El Chehadeh, Salima; Faivre, Laurence; Fergelot, Patricia; Fradin, Mélanie; Garde, Aurore; Geneviève, David; Gilbert-Dussardier, Brigitte; Goizet, Cyril; Goldenberg, Alice; Gouy, Evan; Guerrot, Anne-Marie; Guimier, Anne; Harzalla, Inès; Héron, Delphine; Isidor, Bertrand; Lacombe, Didier; Le Guillou Horn, Xavier; Keren, Boris; Küchler, Alma; Lacaze, Elodie; Lavillaureix, Alinoë; Lehalle, Daphné; Lesca, Gaëtan; Lespinasse, James; Levy, Jonathan; Lyonnet, Stanislas; Morel, Godeliève; Jean-Marçais, Nolwenn; Marlin, Sandrine; Marsili, Luisa; Mignot, Cyril; Nambot, Sophie; Nizon, Mathilde; Olaso, Robert; Pasquier, Laurent; Perrin, Laurine; Petit, Florence; Pingault, Veronique; Piton, Amélie; Prieur, Fabienne; Putoux, Audrey; Planes, Marc; Odent, Sylvie; Quélin, Chloé; Quemener-Redon, Sylvia; Rama, Mélanie; Rio, Marlène; Rossi, Massimiliano; Schaefer, Elise; Rondeau, Sophie; Saugier-Veber, Pascale; Smol, Thomas; Sigaudy, Sabine; Touraine, Renaud; Mau-Them, Frederic Tran; Trimouille, Aurélien; Van Gils, Julien; Vanlerberghe, Clémence; Vantalon, Valérie; Vera, Gabriella; Vincent, Marie; Ziegler, Alban; Guillin, Olivier; Campion, Dominique; Charbonnier, Camille
    Episignatures in practice : Independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
    In: European Journal of Human Genetics Jg. 32 (2024) Nr. 1, S. 717 - 726
    Online Volltext: dx.doi.org/ (Open Access)
  • Falb, Ruth J; Müller, Amelie J; Klein, Wolfram; Grimmel, Mona; Grasshoff, Ute; Spranger, Stephanie; Stöbe, Petra; Gauck, Darja; Küchler, Alma; Dikow, Nicola; Schwaibold, Eva M C; Schmidt, Christoph; Averdunk, Luisa; Buchert, Rebecca; Heinrich, Tilman; Prodan, Natalia; Park, Joohyun; Kehrer, Martin; Sturm, Marc; Kelemen, Olga; Hartmann, Silke; Horn, Denise; Emmerich, Dirk; Hirt, Nina; Neumann, Armin; Kristiansen, Glen; Gembruch, Ulrich; Haen, Susanne; Siebert, Reiner; Hentze, Sabine; Hoopmann, Markus; Ossowski, Stephan; Waldmüller, Stephan; Beck-Wödl, Stefanie; Gläser, Dieter; Tekesin, Ismail; Distelmaier, Felix; Riess, Olaf; Kagan, Karl Oliver; Dufke, Andreas; Haack, Tobias B.
    Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex
    In: Journal of Medical Genetics (eJMG) Jg. 60 (2023) Nr. 1, S. 48 - 56
    Online Volltext: dx.doi.org/ (Open Access)
  • Roos, Andreas; van der Ven, Peter F M; Alrohaif, Hadil; Kölbel, Heike; Heil, Lorena; Della Marina, Adela; Weis, Joachim; Aßent, Marvin; Beck-Wödl, Stefanie; Barresi, Rita; Töpf, Ana; O'Connor, Kaela; Sickmann, Albert; Kohlschmidt, Nicolai; El Gizouli, Magdeldin; Meyer, Nancy; Daya, Nassam; Grande, Valentina; Bois, Karin; Kaiser, Frank J.; Vorgerd, Matthias; Schröder, Christopher; Schara-Schmidt, Ulrike; Gangfuss, Andrea; Evangelista, Teresinha; Röbisch, Luisa; Hentschel, Andreas; Grüneboom, Anika; Fuerst, Dieter O.; Küchler, Alma; Tzschach, Andreas; Depienne, Christel; Lochmüller, Hanns; O’Connor, Kaela
    Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects
    In: Brain: A Journal of Neurology Jg. 146 (2023) Nr. 10, S. 4200 - 4216
    Online Volltext: dx.doi.org/
  • Oppermann, Henry; Marcos-Grañeda, Elia; Weiss, Linnea A.; Gurnett, Christina A.; Jelsig, Anne Marie; Vineke, Susanne H.; Isidor, Bertrand; Mercier, Sandra; Magnussen, Kari; Zacher, Pia; Hashim, Mona; Pagnamenta, Alistair T.; Race, Simone; Srivastava, Siddharth; Frazier, Zoë; Maiwald, Robert; Pergande, Matthias; Milani, Donatella; Rinelli, Martina; Levy, Jonathan; Krey, Ilona; Fontana, Paolo; Lonardo, Fortunato; Riley, Stephanie; Kretzer, Jasmine; Rankin, Julia; Reis, Linda M.; Semina, Elena V.; Reuter, Miriam S.; Scherer, Stephen W.; Iascone, Maria; Weis, Denisa; Fagerberg, Christina R.; Brasch-Andersen, Charlotte; Hansen, Lars Kjaersgaard; Küchler, Alma; Noble, Nathan; Gardham, Alice; Tenney, Jessica; Rathore, Geetanjali; Beck-Woedl, Stefanie; Haack, Tobias B.; Pavlidou, Despoina C.; Atallah, Isis; Vodopiutz, Julia; Janecke, Andreas R.; Hsieh, Tzung-Chien; Lesmann, Hellen; Klinkhammer, Hannah; Krawitz, Peter M.; Lemke, Johannes R.; Jamra, Rami Abou; Nieto, Marta; Tümer, Zeynep; Platzer, Konrad
    CUX1-related neurodevelopmental disorder : deep insights into phenotype-genotype spectrum and underlying pathology
    In: European Journal of Human Genetics Jg. 31 (2023) Nr. 11, S. 1251 - 1260.
    Online Volltext: dx.doi.org/ (Open Access)
  • Langhammer, Franziska; Maroofian, Reza; Badar, Rueda; Gregor, Anne; Rochman, Michelle; Ratliff, Jeffrey B.; Koopmans, Marije; Herget, Theresia; Hempel, Maja; Kortüm, Fanny; Heron, Delphine; Mignot, Cyril; Keren, Boris; Brooks, Susan; Botti, Christina; Ben-Zeev, Bruria; Argilli, Emanuela; Sherr, Elliot H.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Bakhtiari, Somayeh; Kruer, Michael C.; Salih, Mustafa A.; Küchler, Alma; Muller, Eric A.; Blocker, Karli; Kuismin, Outi; Park, Kristen L.; Kochhar, Aaina; Brown, Kathleen; Ramanathan, Subhadra; Clark, Robin D.; Elgizouli, Magdeldin; Melikishvili, Gia; Tabatadze, Nazhi; Stark, Zornitza; Mirzaa, Ghayda M.; Ong, Jinfon; Grasshoff, Ute; Bevot, Andrea; von Wintzingerode, Lydia; Jamra, Rami A.; Hennig, Yvonne; Goldenberg, Paula; Al Alam, Chadi; Charif, Majida; Boulouiz, Redouane; Bellaoui, Mohammed; Amrani, Rim; Al Mutairi, Fuad; Tamim, Abdullah M.; Abdulwahab, Firdous; Alkuraya, Fowzan S.; Khouj, Ebtissal M.; Alvi, Javeria R.; Sultan, Tipu; Hashemi, Narges; Karimiani, Ehsan G.; Ashrafzadeh, Farah; Imannezhad, Shima; Efthymiou, Stephanie; Houlden, Henry; Sticht, Heinrich; Zweier, Christiane
    Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders
    In: Genetics in Medicine Jg. 25 (2023) Nr. 8, 100885
    Online Volltext: dx.doi.org/
  • Sheppard, Sarah E.; Bryant, Laura; Wickramasekara, Rochelle N.; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Hulen, Jason; Watson, Cynthia J.; Faundes, Victor; Duffourd, Yannis; Lee, Pearl; Celeste Simon, M.; de la Cruz, Xavier; Padilla, Natália; Flores-Mendez, Marco; Akizu, Naiara; Smiler, Jacqueline; Da Silva, Renata Pellegrino; Li, Dong; March, Michael; Diaz-Rosado, Abdias; de Barcelos, Isabella Peixoto; Choa, Zhao Xiang; Lim, Chin Yan; Dubourg, Christèle; Journel, Hubert; Demurger, Florence; Mulhern, Maureen; Akman, Cigdem; Lippa, Natalie; Andrews, Marisa; Baldridge, Dustin; Constantino, John; van Haeringen, Arie; Snoeck-Streef, Irina; Chow, Penny; Hing, Anne; Graham, John M.; Au, Margaret; Faivre, Laurence; Shen, Wei; Mao, Rong; Palumbos, Janice; Viskochil, David; Gahl, William; Tifft, Cynthia; Macnamara, Ellen; Hauser, Natalie; Miller, Rebecca; Maffeo, Jessica; Afenjar, Alexandra; Doummar, Diane; Keren, Boris; Arn, Pamela; Macklin-Mantia, Sarah; Meerschaut, Ilse; Callewaert, Bert; Reis, André; Zweier, Christiane; Brewer, Carole; Saggar, Anand; Smeland, Marie F.; Kumar, Ajith; Elmslie, Frances; Deshpande, Charu; Nizon, Mathilde; Cogne, Benjamin; van Ierland, Yvette; Wilke, Martina; van Slegtenhorst, Marjon; Koudijs, Suzanne; Chen, Jin Yun; Dredge, David; Pier, Danielle; Wortmann, Saskia; Kamsteeg, Erik-Jan; Koch, Johannes; Haynes, Devon; Pollack, Lynda; Titheradge, Hannah; Ranguin, Kara; Denommé-Pichon, Anne-Sophie; Weber, Sacha; de la Fuente, Rubén Pérez; del Pozo, Jaime Sánchez; Rosales, Jose Miguel Lezana; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Mei, Davide; Mari, Francesco; Guerrini, Renzo; Lespinasse, James; Mau-Them, Frédéric Tran; Philippe, Christophe; Dauriat, Benjamin; Raymond, Laure; Moutton, Sébastien; Cueto-González, Anna M.; Tan, Tiong Yang; Mignot, Cyril; Grotto, Sarah; Renaldo, Florence; Drivas, Theodore G.; Hennessy, Laura; Raper, Anna; Parenti, Ilaria; Kaiser, Frank J.; Küchler, Alma; Busk, Øyvind L.; Islam, Lily; Siedlik, Jacob A.; Henderson, Lindsay B.; Juusola, Jane; Person, Richard; Schnur, Rhonda E.; Vitobello, Antonio; Banka, Siddharth; Bhoj, Elizabeth J.; Stessman, Holly A.F.
    Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
    In: Science Advances Jg. 9 (2023) Nr. 10, eade1463
    Online Volltext: dx.doi.org/ (Open Access)
  • Diquigiovanni, Chiara; Rizzardi, Nicola; Kampmeier, Antje; Liparulo, Irene; Bianco, Francesca; De Nicolo, Bianca; Cataldi-Stagetti, Erica; Cuna, Elisabetta; Severi, Giulia; Seri, Marco; Bertrand, Miriam; Haack, Tobias B.; Marina, Adela Della; Braun, Frederik; Fato, Romana; Küchler, Alma; Bergamini, Christian; Bonora, Elena
    Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q
    In: Open Biology Jg. 13 (2023) Nr. 7, 230040
    Online Volltext: dx.doi.org/ (Open Access)
  • Grosse, Martin; Kuechler, Alma; Dabir, Tabib; Spranger, Stephanie; Beck-Wödl, Stefanie; Bertrand, Miriam; B. Haack, Tobias; Grasemann, Corinna; Manka, Eva; Depienne, Christel; Kaiser, Frank J.
    Novel Variants of SOX4 in Patients with Intellectual Disability
    In: International Journal of Molecular Sciences (IJMS) Jg. 24 (2023) Nr. 4, 3519
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Kampmeier, Antje; Leitão, Elsa; Parenti, Ilaria; Beygo, Jasmin; Depienne, Christel; Bramswig, Nuria C.; Hsieh, Tzung-Chien; Afenjar, Alexandra; Beck-Wödl, Stefanie; Grasshoff, Ute; Haack, Tobias B.; Bijlsma, Emilia K.; Ruivenkamp, Claudia; Lausberg, Eva; Elbracht, Miriam; Haanpää, Maria K.; Koillinen, Hannele; Heinrich, Uwe; Rost, Imma; Jamra, Rami Abou; Popp, Denny; Koch-Hogrebe, Margarete; Rostasy, Kevin; López-González, Vanesa; Sanchez-Soler, María José; Macedo, Catarina; Schmetz, Ariane; Steinborn, Carmen; Weidensee, Sabine; Lesmann, Hellen; Marbach, Felix; Caro, Pilar; Schaaf, Christian P.; Krawitz, Peter; Wieczorek, Dagmar; Kaiser, Frank J.; Kuechler, Alma
    PHIP-associated Chung-Jansen syndrome : Report of 23 new individuals
    In: Frontiers in Cell and Developmental Biology Jg. 10 (2023) 1020609
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R.; Bernat, John A.; Bombei, Hannah M.; Foulds, Nicola; Hunt, David; Küchler, Alma; Beygo, Jasmin; Stöbe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Garcia-Minaur, Sixto; Pacio-Miguez, Marta; Popp, Bernt; Vasileiou, Georgia; Hebebrand, Moritz; Reis, André; Schuhmann, Sarah; Krumbiegel, Mandy; Brown, Natasha J.; Sparber, Peter; Melikyan, Lyusya; Bessonova, Liudmila; Cherevatova, Tatiana; Sharkov, Artem; Shcherbakova, Natalia; Dabir, Tabib; Kini, Usha; Schwaibold, Eva M. C.; Haack, Tobias B.; Bertoli, Marta; Hoffjan, Sabine; Falb, Ruth; Shinawi, Marwan; Sticht, Heinrich; Zweier, Christiane
    De novo missense variants in FBXO11 alter its protein expression and subcellular localization
    In: Human Molecular Genetics Jg. 31 (2022) Nr. 3, S. 440 - 454
    Online Volltext: dx.doi.org/ (Open Access)
  • Zhou, Jian; Hamdan, Hamdan; Yalamanchili, Hari Krishna; Pang, Kaifang; Pohodich, Amy E.; Lopez, Joanna; Shao, Yingyao; Oses-Prieto, Juan A.; Li, Lifang; Kim, Wonho; Durham, Mark A.; Bajikar, Sameer S.; Palmer, Donna J.; Ng, Philip; Thompson, Michelle L.; Bebin, E Martina; Müller, Amelie J.; Küchler, Alma; Kampmeier, Antje; Haack, Tobias B.; Burlingame, Alma L.; Liu, Zhandong; Rasband, Matthew N.; Zoghbi, Huda Y.
    Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders
    In: Proceedings of the National Academy of Sciences of the United States of America (PNAS) Jg. 119 (2022) Nr. 4, e2119078119
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Motta, Marialetizia; Solman, Maja; Bonnard, Adeline A.; Küchler, Alma; Pantaleoni, Francesca; Priolo, Manuela; Chandramouli, Balasubramanian; Coppola, Simona; Pizzi, Simone; Zara, Erika; Ferilli, Marco; Kayserili, Hülya; Onesimo, Roberta; Leoni, Chiara; Brinkmann, Julia; Vial, Yoann; Kamphausen, Susanne B; Thomas-Teinturier, Cécile; Guimier, Anne; Cordeddu, Viviana; Mazzanti, Laura; Zampino, Giuseppe; Chillemi, Giovanni; Zenker, Martin; Cavé, Hélène; den Hertog, Jeroen; Tartaglia, Marco
    Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome
    In: Human Molecular Genetics Jg. 31 (2022) Nr. 16, S. 2766 - 2778
    Online Volltext: dx.doi.org/ (Open Access)
  • Cousin, Margot A.; Veale, Emma L.; Dsouza, Nikita R.; Tripathi, Swarnendu; Holden, Robyn G.; Arelin, Maria; Beek, Geoffrey; Bekheirnia, Mir Reza; Beygo, Jasmin; Bhambhani, Vikas; Bialer, Martin; Bigoni, Stefania; Boelman, Cyrus; Carmichael, Jenny; Courtin, Thomas; Cogne, Benjamin; Dabaj, Ivana; Doummar, Diane; Fazilleau, Laura; Ferlini, Alessandra; Gavrilova, Ralitza H.; Graham, John M.; Haack, Tobias B.; Juusola, Jane; Kant, Sarina G.; Kayani, Saima; Keren, Boris; Ketteler, Petra; Klöckner, Chiara; Koopmann, Tamara T.; Kruisselbrink, Teresa M.; Küchler, Alma; Lambert, Laëtitia; Latypova, Xénia; Lebel, Robert Roger; Leduc, Magalie S.; Leonardi, Emanuela; Lewis, Andrea M.; Liew, Wendy; Machol, Keren; Mardini, Samir; McWalter, Kirsty; Mignot, Cyril; McLaughlin, Julie; Murgia, Alessandra; Narayanan, Vinodh; Nava, Caroline; Neuser, Sonja; Nizon, Mathilde; Ognibene, Davide; Park, Joohyun; Platzer, Konrad; Poirsier, Céline; Radtke, Maximilian; Ramsey, Keri; Runke, Cassandra K.; Guillen Sacoto, Maria J.; Scaglia, Fernando; Shinawi, Marwan; Spranger, Stephanie; Tan, Ee Shien; Taylor, John; Trentesaux, Anne-Sophie; Vairo, Filippo; Willaert, Rebecca; Zadeh, Neda; Urrutia, Raul; Babovic-Vuksanovic, Dusica; Zimmermann, Michael T.; Mathie, Alistair; Klee, Eric W.
    Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
    In: Genome Medicine Jg. 14 (2022) Nr. 1, 62
    Online Volltext: dx.doi.org/ (Open Access)
  • Thielmann, Carl M.; Kampmeier, Antje; Küchler, Alma; Zenker, Martin; Wieland, Ilse; Matull, Johanna; Krefting, Frederik; Griewank, Klaus; Hadaschik, Eva
    Giant congenital melanocytic naevus caused by NRAS Q61K mosaicism
    In: JEADV Clinical Practice Jg. 1 (2022) Nr. 4, S. 416 - 419
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Gangfuß, Andrea; Czech, Artur; Hentschel, Andreas; Münchberg, Ute; Horvath, Rita; Töpf, Ana; O'Heir, Emily; Lochmüller, Hanns; Stehling, Florian; Kiewert, Cordula; Sickmann, Albert; Küchler, Alma; Kaiser, Frank J.; Kölbel, Heike; Christiansen, Jon; Schara-Schmidt, Ulrike; Roos, Andreas
    Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement
    In: The Journal of Pathology Jg. 256 (2022) Nr. 1, S. 93 - 107
    Online Volltext: dx.doi.org/ (Open Access)
  • Leitão, Elsa; Schröder, Christopher; Parenti, Ilaria; Dalle, Carine; Rastetter, Agnès; Kühnel, Theresa; Küchler, Alma; Kaya, Sabine; Gérard, Bénédicte; Schaefer, Elise; Nava, Caroline; Drouot, Nathalie; Engel, Camille; Piard, Juliette; Duban-Bedu, Bénédicte; Villard, Laurent; Stegmann, Alexander P. A.; Vanhoutte, Els K.; Verdonschot, Job A. J.; Kaiser, Frank J.; Tran Mau-Them, Frédéric; Scala, Marcello; Striano, Pasquale; Frints, Suzanna G. M.; Argilli, Emanuela; Sherr, Elliott H.; Elder, Fikret; Buratti, Julien; Keren, Boris; Mignot, Cyril; Héron, Delphine; Mandel, Jean-Louis; Gecz, Jozef; Kalscheuer, Vera M.; Horsthemke, Bernhard; Piton, Amélie; Depienne, Christel
    Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
    In: Nature Communications Jg. 13 (2022) Nr. 1, 6570
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Parenti, Ilaria; Leitão, Elsa; Kuechler, Alma; Villard, Laurent; Goizet, Cyril; Courdier, Cécile; Bayat, Allan; Rossi, Alessandra; Julia, Sophie; Bruel, Ange-Line; Mau-Them, Frédéric Tran; Nambot, Sophie; Lehalle, Daphné; Willems, Marjolaine; Lespinasse, James; Ghoumid, Jamal; Caumes, Roseline; Smol, Thomas; Chehadeh, Salima El; Schaefer, Elise; Abi-Warde, Marie-Thérèse; Keren, Boris; Afenjar, Alexandra; Tabet, Anne-Claude; Levy, Jonathan; Maruani, Anna; Aledo-Serrano, Ángel; Garming, Waltraud; Milleret-Pignot, Clara; Chassevent, Anna; Koopmans, Marije; Verbeek, Nienke E.; Person, Richard; Belles, Rebecca; Bellus, Gary; Salbert, Bonnie A.; Kaiser, Frank J.; Mazzola, Laure; Convers, Philippe; Perrin, Laurine; Piton, Amélie; Wiegand, Gert; Accogli, Andrea; Brancati, Francesco; Benfenati, Fabio; Chatron, Nicolas; Lewis-Smith, David; Thomas, Rhys H.; Zara, Federico; Striano, Pasquale; Lesca, Gaetan; Depienne, Christel
    The different clinical facets of SYN1-related neurodevelopmental disorders
    In: Frontiers in Cell and Developmental Biology Jg. 10 (2022) 1019715
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Radulovic, Ivana; Küchler, Alma; Schündeln, Michael M.; Paulussen, Michael; von Neuhoff, Nils; Reinhardt, Dirk; Hanenberg, Helmut
    A homozygous nonsense mutation early in exon 5 of BRCA2 is associated with very severe Fanconi anemia
    In: European Journal of Medical Genetics (EJMG) Jg. 64 (2021) Nr. 8, 104260
    Online Volltext: dx.doi.org/
  • Parenti, Ilaria; Mallozzi, Mark B.; Hüning, Irina; Gervasini, Cristina; Küchler, Alma; Agolini, Emanuele; Albrecht, Beate; Baquero-Montoya, Carolina; Bohring, Axel; Bramswig, Nuria C.; Busche, Andreas; Dalski, Andreas; Guo, Yiran; Hanker, Britta; Hellenbroich, Yorck; Horn, Denise; Innes, A. Micheil; Leoni, Chiara; Li, Yun R.; Lynch, Sally Ann; Mariani, Milena; Medne, Livija; Mikat, Barbara; Milani, Donatella; Onesimo, Roberta; Ortiz-Gonzalez, Xilma; Prott, Eva Christina; Reutter, Heiko; Rossier, Eva; Selicorni, Angelo; Wieacker, Peter; Wilkens, Alisha; Wieczorek, Dagmar; Zackai, Elaine H.; Zampino, Giuseppe; Zirn, Birgit; Hakonarson, Hakon; Deardorff, Matthew A.; Gillessen-Kaesbach, Gabriele; Kaiser, Frank J.
    ANKRD11 variants : KBG syndrome and beyond
    In: Clinical Genetics Jg. 100 (2021) Nr. 2, S. 187 - 200
    Online Volltext: dx.doi.org/ (Open Access)
  • Lieberwirth, Johann Kaspar; Joset, Pascal; Heinze, Anja; Hentschel, Julia; Stein, Anja; Iannaccone, Antonella; Steindl, Katharina; Küchler, Alma; Abou Jamra, Rami
    Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy
    In: European Journal of Human Genetics Jg. 29 (2021) Nr. 5, S. 808 - 815
    Online Volltext: dx.doi.org/ (Open Access)
  • Latorre-Pellicer, Ana; Gil-Salvador, Marta; Parenti, Ilaria; Lucia-Campos, Cristina; Trujillano, Laura; Marcos-Alcalde, Iñigo; Arnedo, María; Ascaso, Ángela; Ayerza-Casas, Ariadna; Antoñanzas-Pérez, Rebeca; Gervasini, Cristina; Piccione, Maria; Mariani, Milena; Weber, Axel; Kanber, Deniz; Küchler, Alma; Munteanu, Martin; Khuller, Katharina; Bueno-Lozano, Gloria; Puisac, Beatriz; Gómez-Puertas, Paulino; Selicorni, Angelo; Kaiser, Frank J.; Ramos, Feliciano J.; Pié, Juan
    Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood
    In: Scientific Reports Jg. 11 (2021) Nr. 1, 15459
    Online Volltext: dx.doi.org/ (Open Access)
  • Lieberwirth, Johann Kaspar; Joset, Pascal; Heinze, Anja; Hentschel, Julia; Stein, Anja; Iannaccone, Antonella; Steindl, Katharina; Küchler, Alma; Jamra, Rami Abou
    Correction: Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy
    In: European Journal of Human Genetics Jg. 29 (2021) Nr. 5, S. 887
    Online Volltext: dx.doi.org/ (Open Access)
  • Brock, Stefanie; Vanderhasselt, Tim; Vermaning, Sietske; Keymolen, Kathelijn; Régal, Luc; Romaniello, Romina; Wieczorek, Dagmar; Storm, Tim Matthias; Schaeferhoff, Karin; Hehr, Ute; Küchler, Alma; Krägeloh-Mann, Ingeborg; Haack, Tobias B.; Kasteleijn, Esmee; Schot, Rachel; Mancini, Grazia Maria Simonetta; Webster, Richard; Mohammad, Shekeeb; Leventer, Richard J.; Mirzaa, Ghayda; Dobyns, William B.; Bahi-Buisson, Nadia; Meuwissen, Marije; Jansen, Anna C.; Stouffs, Katrien
    Defining the phenotypical spectrum associated with variants in TUBB2A
    In: Journal of Medical Genetics (eJMG) Jg. 58 (2021) Nr. 1, S. 33 - 40
    Online Volltext: dx.doi.org/ (Open Access)
  • Gangfuß, Andrea; Yigit, Gökhan; Altmüller, Janine; Nürnberg, Peter; Czeschik, Johanna Christina; Wollnik, Bernd; Bögershausen, Nina; Burfeind, Peter; Wieczorek, Dagmar; Kaiser, Frank; Roos, Andreas; Kölbel, Heike; Schara-Schmidt, Ulrike; Küchler, Alma
    Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation : A clinical longitudinal study
    In: American Journal of Medical Genetics, Part A Jg. 185 (2021) Nr. 4, S. 1216 - 1221
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  • Khuller, Katharina; Yigit, Gökhan; Martínez Grijalva, Carolina; Altmüller, Janine; Thiele, Holger; Nürnberg, Peter; Elcioglu, Nursel H.; Yeter, Burcu; Hehr, Ute; Stein, Anja; Della Marina, Adela; Köninger, Angela; Depienne, Christel; Kaiser, Frank J.; Wollnik, Bernd; Küchler, Alma
    MFSD2A-associated primary microcephaly : Expanding the clinical and mutational spectrum of this ultra-rare disease
    In: European Journal of Medical Genetics (EJMG) Jg. 64 (2021) Nr. 10, 104310
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  • den Hoed, Joery; de Boer, Elke; Voisin, Norine; Dingemans, Alexander J.M.; Guex, Nicolas; Wiel, Laurens; Nellaker, Christoffer; Amudhavalli, Shivarajan M.; Banka, Siddharth; Bena, Frederique S.; Ben-Zeev, Bruria; Bonagura, Vincent R.; Bruel, Ange-Line; Brunet, Theresa; Brunner, Han G.; Chew, Hui B.; Chrast, Jacqueline; Cimbalistienė, Loreta; Coon, Hilary; Délot, Emmanuèlle C.; Démurger, Florence; Denommé-Pichon, Anne-Sophie; Depienne, Christel; Donnai, Dian; Dyment, David A.; Elpeleg, Orly; Faivre, Laurence; Gilissen, Christian; Granger, Leslie; Haber, Benjamin; Hachiya, Yasuo; Abedi, Yasmin Hamzavi; Hanebeck, Jennifer; Hehir-Kwa, Jayne Y.; Horist, Brooke; Itai, Toshiyuki; Jackson, Adam; Jewell, Rosalyn; Jones, Kelly L.; Joss, Shelagh; Kashii, Hirofumi; Kato, Mitsuhiro; Kattentidt-Mouravieva, Anja A.; Kok, Fernando; Kotzaeridou, Urania; Krishnamurthy, Vidya; Kučinskas, Vaidutis; Küchler, Alma; Lavillaureix, Alinoë; Liu, Pengfei; Manwaring, Linda; Matsumoto, Naomichi; Mazel, Benoît; McWalter, Kirsty; Meiner, Vardiella; Mikati, Mohamad A.; Miyatake, Satoko; Mizuguchi, Takeshi; Moey, Lip H.; Mohammed, Shehla; Mor-Shaked, Hagar; Mountford, Hayley; Newbury-Ecob, Ruth; Odent, Sylvie; Orec, Laura; Osmond, Matthew; Palculict, Timothy B.; Parker, Michael; Petersen, Andrea K.; Pfundt, Rolph; Preikšaitienė, Eglė; Radtke, Kelly; Ranza, Emmanuelle; Rosenfeld, Jill A.; Santiago-Sim, Teresa; Schwager, Caitlin; Sinnema, Margje; Snijders Blok, Lot; Spillmann, Rebecca C.; Stegmann, Alexander P.A.; Thiffault, Isabelle; Tran, Linh; Vaknin-Dembinsky, Adi; Vedovato-dos-Santos, Juliana H.; Schrier Vergano, Samantha A.; Vilain, Eric; Vitobello, Antonio; Wagner, Matias; Waheeb, Androu; Willing, Marcia; Zuccarelli, Britton; Kini, Usha; Newbury, Dianne F.; Kleefstra, Tjitske; Reymond, Alexandre; Fisher, Simon E.; Vissers, Lisenka E.L.M.
    Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
    In: The American Journal of Human Genetics Jg. 108 (2021) Nr. 2, S. 346 - 356
    Online Volltext: dx.doi.org/ (Open Access)
  • Mann, Nina; Mzoughi, Slim; Schneider, Ronen; Kühl, Susanne J.; Schanze, Denny; Klämbt, Verena; Lovric, Svjetlana; Mao, Youying; Shi, Shasha; Tan, Weizhen; Kühl, Michael; Onuchic-Whitford, Ana C.; Treimer, Ernestine; Kitzler, Thomas M.; Kause, Franziska; Schumann, Sven; Nakayama, Makiko; Buerger, Florian; Shril, Shirlee; van der Ven, Amelie T.; Majmundar, Amar J.; Holton, Kristina Marie; Kolb, Amy; Braun, Daniela A.; Rao, Jia; Jobst-Schwan, Tilman; Mildenberger, Eva; Lennert, Thomas; Küchler, Alma; Wieczorek, Dagmar; Gross, Oliver; Ermisch-Omran, Beate; Werberger, Anja; Skalej, Martin; Janecke, Andreas R.; Soliman, Neveen A.; Mane, Shrikant M.; Lifton, Richard P.; Kadlec, Jan; Guccione, Ernesto; Schmeisser, Michael J.; Zenker, Martin; Hildebrandt, Friedhelm
    Mutations in PRDM15 are a novel cause of galloway-mowat syndrome
    In: Journal of the American Society of Nephrology (JASN) Jg. 32 (2021) Nr. 3, S. 580 - 596
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  • Meyer, Robert; Begemann, Matthias; Hübner, Christian Thomas; Dey, Daniela; Küchler, Alma; Elgizouli, Magdeldin; Schara, Ulrike; Ambrozaityte, Laima; Burnyte, Birute; Schröder, Carmen; Kenawy, Asmaa; Kroisel, Peter; Demuth, Stephanie; Fekete, Gyorgy; Opladen, Thomas; Elbracht, Miriam; Eggermann, Thomas
    One test for all : Whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome
    In: Orphanet Journal of Rare Diseases Jg. 16 (2021) Nr. 1, S. 42
    Online Volltext: dx.doi.org/ (Open Access)
  • Tenorio-Castaño, Jair; Morte, Beatriz; Nevado, Julián; Martinez-Glez, Víctor; Santos-Simarro, Fernando; García-Miñaúr, Sixto; Palomares-Bralo, María; Pacio-Míguez, Marta; Gómez, Beatriz; Arias, Pedro; Alcochea, Alba; Carrión, Juan; Arias, Patricia; Almoguera, Berta; López-Grondona, Fermina; Lorda-Sanchez, Isabel; Galán-Gómez, Enrique; Valenzuela, Irene; Méndez Perez, María Pilar; Cuscó, Ivón; Barros, Francisco; Pié, Juan; Ramos, Sergio; Ramos, Feliciano J.; Küchler, Alma; Tizzano, Eduardo; Ayuso, Carmen; Kaiser, Frank J.; Pérez-Jurado, Luis A.; Carracedo, Ángel; The ENoD-Ciberer Consortium; The Side Consortium; Lapunzina, Pablo
    Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder) : Seven Novel Patients and a Review
    In: Genes Jg. 12 (2021) Nr. 5, 738
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  • Lissewski, Christina; Chune, Valérie; Pantaleoni, Francesca; De Luca, Alessandro; Capri, Yline; Brinkmann, Julia; Lepri, Francesca; Daniele, Paola; Leenders, Erika; Mazzanti, Laura; Scarano, Emanuela; Radio, Francesca Clementina; Kutsche, Kerstin; Küchler, Alma; Gérard, Marion; Ranguin, Kara; Legendre, Marine; Vial, Yoann; van der Burgt, Ineke; Rinne, Tuula; Andreucci, Elena; Mastromoro, Gioia; Digilio, Maria Cristina; Cave, Hélène; Tartaglia, Marco; Zenker, Martin
    Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
    In: European Journal of Human Genetics Jg. 29 (2021) Nr. 1, S. 51 - 60
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  • Dittner-Moormann, Sabine; Reschke, Madlen; Biewald, Eva; Küchler, Alma; Klein, Barbara; Timmermann, Beate; Lohmann, Dietmar; Ketteler, Petra; Kanber, Deniz
    13q deletion syndrome resulting from balanced chromosomal rearrangement in father : The significance of parental karyotyping
    In: Molecular Cytogenetics Jg. 13 (2020) Nr. 1, S. 31
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  • Tolchin, Dara; Yeager, Jessica P.; Prasad, Priya; Dorrani, Naghmeh; Russi, Alvaro Serrano; Martinez-Agosto, Julian A.; Haseeb, Abdul; Angelozzi, Marco; Santen, Gijs Willem Eduard; Ruivenkamp, Claudia; Mercimek-Andrews, Saadet; Depienne, Christel; Küchler, Alma; Mikat, Barbara; Ludecke, Hermann-Josef; Bilan, Frederic; Le Guyader, Gwenael; Gilbert-Dussardier, Brigitte; Keren, Boris; Heide, Solveig; Haye, Damien; Van Esch, Hilde; Keldermans, Liesbeth; Ortiz, Damara; Lancaster, Emily; Krantz, Ian D.; Krock, Bryan L.; Pechter, Kieran B.; Arkader, Alexandre; Medne, Livija; DeChene, Elizabeth T.; Calpena, Eduardo; Melistaccio, Giada; Wilkie, Andrew O.M.; Suri, Mohnish; Foulds, Nicola; Genomics England Research Consortium; Begtrup, Amber; Henderson, Lindsay B.; Forster, Cara; Reed, Patrick; McDonald, Marie T.; McConkie-Rosell, Allyn; Thevenon, Julien; Le Tanno, Pauline; Coutton, Charles; Tsai, Anne C.H.; Stewart, Sarah; Maver, Ales; Gorazd, Rudolf; Pichon, Olivier; Nizon, Mathilde; Cogné, Benjamin; Isidor, Bertrand; Martin-Coignard, Dominique; Stoeva, Radka; Lefebvre, Véronique; Le Caignec, Cédric
    De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas
    In: The American Journal of Human Genetics Jg. 106 (2020) Nr. 6, S. 830 - 845
    Online Volltext: dx.doi.org/ (Open Access)
  • Paul, Luisa; Rupprich, Katrin; Della Marina, Adela; Eckstein, Anja; Elgizouli, Magdeldin; Kaiser, Frank J.; Schweiger, Bernd; Köninger, Angela; Iannaccone, Antonella; Hehr, Ute; Kölbel, Heike; Roos, Andreas; Schara-Schmidt, Ulrike; Küchler, Alma
    Further evidence for POMK as candidate gene for WWS with meningoencephalocele
    In: Orphanet Journal of Rare Diseases Jg. 15 (2020) S. 242
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  • Ballout, Rami A.; Dickerson, Cheryl; Wick, Myra J.; Al-Sweel, Najla; Openshaw, Amanda S.; Srivastava, Siddharth; Swanson, Lindsay C.; Brämswig, Nuria C.; Küchler, Alma; Hong, Bo; Fleming, Leah R.; Curry, Kathryn; Robertson, Stephen P.; Andersen, Erica F.; El-Hattab, Ayman W.
    Int22h1/Int22h2-mediated Xq28 duplication syndrome : de novo duplications, prenatal diagnoses, and additional phenotypic features
    In: Human Mutation Jg. 41 (2020) Nr. 7, S. 1238 - 1249
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  • Marbach, Felix; Elgizouli, Magdeldin; Rech, Megan; Beygo, Jasmin; Erger, Florian; Velmans, Clara; Stumpel, Constance T. R. M.; Stegmann, Alexander P. A.; Beck-Wödl, Stefanie; Gillessen-Kaesbach, Gabriele; Horsthemke, Bernhard; Schaaf, Christian P.; Küchler, Alma
    The adult phenotype of Schaaf-Yang syndrome
    In: Orphanet Journal of Rare Diseases Jg. 15 (2020) Nr. 1, S. 294
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  • Zawerton, Ash; Mignot, Cyril; Sigafoos, Ashley; Blackburn, Patrick R.; Haseeb, Abdul; McWalter, Kirsty; Ichikawa, Shoji; Nava, Caroline; Keren, Boris; Charles, Perrine; Marey, Isabelle; Tabet, Anne-Claude; Levy, Jonathan; Perrin, Laurence; Hartmann, Andreas; Lesca, Gaetan; Schluth-Bolard, Caroline; Monin, Pauline; Dupuis-Girod, Sophie; Guillen Sacoto, Maria J.; Schnur, Rhonda E.; Zhu, Zehua; Poisson, Alice; El Chehadeh, Salima; Alembik, Yves; Bruel, Ange-Line; Lehalle, Daphné; Nambot, Sophie; Moutton, Sébastien; Odent, Sylvie; Jaillard, Sylvie; Dubourg, Christèle; Hilhorst-Hofstee, Yvonne; Barbaro-Dieber, Tina; Ortega, Lucia; Bhoj, Elizabeth J.; Masser-Frye, Diane; Bird, Lynne M.; Lindstrom, Kristin; Ramsey, Keri M.; Narayanan, Vinodh; Fassi, Emily; Willing, Marcia; Cole, Trevor; Salter, Claire G.; Akilapa, Rhoda; Vandersteen, Anthony; Canham, Natalie; Rump, Patrick; Gerkes, Erica H.; Wassink-Ruiter, Jolien S. Klein; Bijlsma, Emilia; Hoffer, Mariëtte J. V.; Vargas, Marcelo; Wojcik, Antonina; Cherik, Florian; Francannet, Christine; Rosenfeld, Jill A.; Machol, Keren; Scott, Daryl A.; Bacino, Carlos A.; Wang, Xia; Clark, Gary D.; Bertoli, Marta; Zwolinski, Simon; Thomas, Rhys H.; Akay, Ela; Chang, Richard C.; Bressi, Rebekah; Sanchez Russo, Rossana; Srour, Myriam; Russell, Laura; Goyette, Anne-Marie E.; Dupuis, Lucie; Mendoza-Londono, Roberto; Karimov, Catherine; Joseph, Maries; Nizon, Mathilde; Cogné, Benjamin; Küchler, Alma; Piton, Amélie; Klee, Eric W.; Lefebvre, Véronique; Clark, Karl J.; Depienne, Christel
    Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
    In: Genetics in Medicine Jg. 22 (2020) Nr. 3, S. 524 - 537
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  • Capri, Yline; Flex, Elisabetta; Krumbach, Oliver H.F.; Carpentieri, Giovanna; Cecchetti, Serena; Lißewski, Christina; Rezaei Adariani, Soheila; Schanze, Denny; Brinkmann, Julia; Piard, Juliette; Pantaleoni, Francesca; Lepri, Francesca R.; Goh, Elaine Suk-Ying; Chong, Karen; Stieglitz, Elliot; Meyer, Julia; Küchler, Alma; Bramswig, Nuria C.; Sacharow, Stephanie; Strullu, Marion; Vial, Yoann; Vignal, Cédric; Kensah, George; Cuturilo, Goran; Kazemein Jasemi, Neda S.; Dvorsky, Radovan; Monaghan, Kristin G.; Vincent, Lisa M.; Cavé, Hélène; Verloes, Alain; Ahmadian, Mohammad R.; Tartaglia, Marco; Zenker, Martin
    Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome
    In: The American Journal of Human Genetics Jg. 104 (2019) Nr. 6, S. 1223 - 1232
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Ebert, David Daniel; Mortier, Philippe; Kaehlke, Fanny; Bruffaerts, Ronny; Baumeister, Harald; Auerbach, Randy P.; Alonso, Jordi; Vilagut, Gemma; Martínez, Kalina U.; Lochner, Christine; Cuijpers, Pim; Kuechler, Ann-Marie; Green, Jennifer; Hasking, Penelope; Lapsley, Coral; Sampson, Nancy A.; Kessler, Ronald C.
    Barriers of mental health treatment utilization among first-year college students : First cross-national results from the WHO World Mental Health International College Student Initiative
    In: International Journal of Methods in Psychiatric Research Jg. 28 (2019) Nr. 2, e1782
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  • Reynhout, Sara; Jansen, Sandra; Haesen, Dorien; van Belle, Siska; de Munnik, Sonja A.; Bongers, Ernie M.H.F.; Schieving, Jolanda H.; Marcelis, Carlo; Amiel, Jeanne; Rio, Marlène; Mclaughlin, Heather; Ladda, Roger; Sell, Susan; Kriek, Marjolein; Peeters-Scholte, Cacha M.P.C.D.; Terhal, Paulien A.; van Gassen, Koen L.; Verbeek, Nienke; Henry, Sonja; Scott Schwoerer, Jessica; Malik, Saleem; Revencu, Nicole; Ferreira, Carlos R.; Macnamara, Ellen; Braakman, Hilde M.H.; Brimble, Elise; Ruznikov, Maura R.Z.; Wagner, Matias; Harrer, Philip; Wieczorek, Dagmar; Küchler, Alma; Tziperman, Barak; Barel, Ortal; de Vries, Bert B.A.; Gordon, Christopher T.; Janssens, Veerle; Vissers, Lisenka E.L.M.
    De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
    In: The American Journal of Human Genetics Jg. 104 (2019) Nr. 1, S. 139 - 156
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  • Sinibaldi, Lorenzo; Parisi, Valentina; Lanciotti, Silvia; Fontana, Paolo; Küchler, Alma; Baujat, Genevieve; Torres, Barbara; Koetting, Judith; Splendiani, Alessandra; Postorivo, Diana; Beygo, Jasmin; Garaci, Francesco G.; Malan, Valerie; Lüdecke, Hermann-Josef; Guida, Valentina; Krumbiegel, Mandy; Lonardo, Fortunato; Novelli, Antonio; Albrecht, Beate; Perria, Chiara; Scarano, Gioacchino; Spielmann, Malte; Nardone, Annamaria M.; Battaglia, Agatino; Brancati, Francesco; Bernardini, Laura
    Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes
    In: Clinical Genetics Jg. 96 (2019) Nr. 3, S. 246 - 253
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  • Theurer, Sarah; Biewald, Eva; Kuchelmeister, Klaus W.; Temming, Petra; Küchler, Alma; Oeffner, Frank; Bornfeld, Norbert; Sirin, Selma; Schmid, Kurt Werner; Metz, Klaus
    Primäres Meningeom des Nervus opticus im Säuglingsalter als Erstmanifestation einer Neurofibromatose Typ 2
    In: Der Pathologe Jg. 40 (2019) Nr. 2, S. 179 - 184
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  • Johnston, Jennifer J.; Smagt, Jasper J. van der; Rosenfeld, Jill A.; Pagnamenta, Alistair T.; Alswaid, Abdulrahman; Baker, Eva H.; Blair, Edward; Borck, Guntram; Brinkmann, Julia; Craigen, William; Dung, Vu Chi; Emrick, Lisa; Everman, David B.; Gassen, Koen L. van; Gulsuner, Suleyman; Harr, Margaret H.; Jain, Mahim; Küchler, Alma; Leppig, Kathleen A.; McDonald-McGinn, Donna M.; Can, Ngoc Thi Bich; Peleg, Amir; Roeder, Elizabeth R.; Rogers, R. Curtis; Sagi-Dain, Lena; Sapp, Julie C.; Schäffer, Alejandro A.; Schanze, Denny; Stewart, Helen; Taylor, Jenny C.; Verbeek, Nienke E.; Walkiewicz, Magdalena A.; Zackai, Elaine H.; Zweier, Christiane; Zenker, Martin; Lee, Brendan; Biesecker, Leslie G.
    Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
    In: Genetics in Medicine Jg. 20 (2018) Nr. 10, S. 1175 - 1185
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  • Lessel, Davor; Gehbauer, Christina; Bramswig, Nuria C.; Schluth-Bolard, Caroline; Venkataramanappa, Sathish; van Gassen, Koen L. I.; Hempel, Maja; Haack, Tobias B.; Baresic, Anja; Genetti, Casie A.; Funari, Mariana F. A.; Lessel, Ivana; Kuhlmann, Leonie; Simon, Ruth; Liu, Pentao; Denecke, Jonas; Küchler, Alma; De Kruijff, Ineke; Shoukier, Moneef; Lek, Monkol; Mullen, Thomas; Lüdecke, Hermann-Josef; Lerario, Antonio M.; Kobbe, Robin; Krieger, Thorsten; Demeer, Benedicte; Lebrun, Marine; Keren, Boris; Nava, Caroline; Buratti, Julien; Afenjar, Alexandra; Shinawi, Marwan; Guillen Sacoto, Maria J.; Gauthier, Julie; Hamdan, Fadi F.; Laberge, Anne-Marie; Campeau, Philippe M.; Louie, Raymond J.; Cathey, Sara S.; Prinz, Immo; Jorge, Alexander A. L.; Terhal, Paulien A.; Lenhard, Boris; Wieczorek, Dagmar; Strom, Tim M.; Agrawal, Pankaj B.; Britsch, Stefan; Tolosa, Eva; Kubisch, Christian
    BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells
    In: Brain: A Journal of Neurology Jg. 141 (2018) Nr. 8, S. 2299 - 2311
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  • Fritzen, Daniel; Küchler, Alma; Grimmel, Mona; Becker, Jessica; Peters, Sophia; Sturm, Marc; Hundertmark, Hela; Schmidt, Axel; Kreiß, Martina; Strom, Tim M.; Wieczorek, Dagmar; Haack, Tobias B.; Beck-Wödl, Stefanie; Cremer, Kirsten; Engels, Hartmut
    De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies
    In: Human Genetics Jg. 137 (2018) Nr. 5, S. 401 - 411
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  • Soukup, Daniel; Küchler, Alma; Roesler, Joachim; Pichlmaier, Leopold; Eckerland, Maximillian; Olivier, Margarete; Stehling, Florian
    Genetic Diagnostic Elucidation of a Patient With Multiorgan Granulomas, Facial Peculiarities, and Psychomotor Retardation
    In: Frontiers in Genetics Jg. 9 (2018) 355
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  • Bramswig, Nuria C.; Bertoli-Avella, Aida M.; Albrecht, Beate; Al Aqeel, Aida I.; Alhashem, Amal; Al-Sannaa, Nouriya; Bah, Maissa; Bröhl, Katharina; Depienne, Christel; Dorison, Nathalie; Doummar, Diane; Ehmke, Nadja; Elbendary, Hasnaa M.; Gorokhova, Svetlana; Héron, Delphine; Horn, Denise; James, Kiely; Keren, Boris; Küchler, Alma; Ismail, Samira; Issa, Mahmoud Y.; Marey, Isabelle; Mayer, Michèle; McEvoy-Venneri, Jennifer; Megarbane, Andre; Mignot, Cyril; Mohamed, Sarar; Nava, Caroline; Philip, Nicole; Ravix, Cecile; Rolfs, Arndt; Sadek, Abdelrahim Abdrabou; Segebrecht, Lara; Stanley, Valentina; Trautman, Camille; Valence, Stephanie; Villard, Laurent; Wieland, Thomas; Engels, Hartmut; Strom, Tim M.; Zaki, Maha S.; Gleeson, Joseph G.; Lüdecke, Hermann-Josef; Bauer, Peter; Wieczorek, Dagmar
    Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
    In: Human Genetics Jg. 137 (2018) Nr. 9, S. 753 - 768
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  • Liehr, Thomas; Schreyer, Isolde; Küchler, Alma; Manolakos, Emmanouil; Singer, Sylke; Dufke, Andreas; Wilhelm, Kathleen; Jančušková, Tereza; Čmejla, Radek; Othman, Moneeb A. K.; Al-Rikabi, Ahmed H.; Mrasek, Kristin; Ziegler, Monika; Kankel, Stefanie; Kreskowski, Katharina; Weise, Anja
    Parental origin of deletions and duplications - About the necessity to check for cryptic inversions
    In: Molecular Cytogenetics Jg. 11 (2018) S. 20
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  • Chatron, Nicolas; Møller, Rikke S.; Champaigne, Neena L.; Schneider, Amy L.; Küchler, Alma; Labalme, Audrey; Simonet, Thomas; Baggett, Lauren; Bardel, Claire; Kamsteeg, Erik-Jan; Pfundt, Rolph; Romano, Corrado; Aronsson, Johan; Alberti, Antonino; Vinci, Mirella; Miranda, Maria J.; Lacroix, Amy; Marjanovic, Dragan; des Portes, Vincent; Edery, Patrick; Wieczorek, Dagmar; Gardella, Elena; Scheffer, Ingrid E.; Mefford, Heather; Sanlaville, Damien; Carvill, Gemma L.; Lesca, Gaetan
    The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant
    In: Annals of Neurology Jg. 83 (2018) Nr. 5, S. 926 - 934
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  • Küchler, Alma; Czeschik, Johanna Christina; Graf, Elisabeth; Grasshoff, Ute; Hüffmeier, Ulrike; Busa, Tiffany; Beck-Woedl, Stefanie; Faivre, Laurence; Rivière, Jean-Baptiste; Bader, Ingrid; Koch, Johannes; Reis, André; Hehr, Ute; Rittinger, Olaf; Sperl, Wolfgang; Haack, Tobias B.; Wieland, Thomas; Engels, Hartmut; Prokisch, Holger; Strom, Tim M.; Lüdecke, Hermann-Josef; Wieczorek, Dagmar
    Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3 : A recognizable condition
    In: European Journal of Human Genetics Jg. 25 (2017) Nr. 2, S. 183 - 191
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  • Stähr, Kerstin; Küchler, Alma; Gencik, Martin; Arnolds, Judith; Dendy, Meaghan; Lang, Stephan; Arweiler-Harbeck, Diana
    Cochlear Implantation in Siblings with Refsum's Disease
    In: Annals of Otology, Rhinology and Laryngology Jg. 126 (2017) Nr. 8, S. 611 - 614
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  • Syrbe, Steffen; Harms, Frederike L.; Parrini, Elena; Montomoli, Martino; Mütze, Ulrike; Helbig, Katherine L.; Polster, Tilman; Albrecht, Beate; Bernbeck, Ulrich; Van Binsbergen, Ellen; Biskup, Saskia; Burglen, Lydie; Denecke, Jonas; Heron, Bénédicte; Heyne, Henrike O.; Hoffmann, Georg F.; Hornemann, Frauke; Matsushige, Takeshi; Matsuura, Ryuki; Kato, Mitsuhiro; Korenke, G. Christoph; Küchler, Alma; Lämmer, Constanze; Merkenschlager, Andreas; Mignot, Cyril; Ruf, Susanne; Nakashima, Mitsuko; Saitsu, Hirotomo; Stamberger, Hannah; Pisano, Tiziana; Tohyama, Jun; Weckhuysen, Sarah; Werckx, Wendy; Wickert, Julia; Mari, Francesco; Verbeek, Nienke E.; Møller, Rikke S.; Koeleman, Bobby; Matsumoto, Naomichi; Dobyns, William B.; Lemke, Johannes R.; Kutsche, Kerstin; Battaglia, Domenica; Guerrini, Renzo
    Delineating SPTAN1 associated phenotypes : From isolated epilepsy to encephalopathy with progressive brain atrophy
    In: Brain: A Journal of Neurology Jg. 140 (2017) Nr. 9, S. 2322 - 2336
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  • Chatron, N.; Moller, R. S.; Champaigne, N. L.; Küchler, Alma; Labalme, A.; Baggett, L.; Wieczorek, Dagmar; Portes, D. V.; Edery, P.; Gardella, E.; Scheffer, I. E.; Mefford, H.; Sanlaville, D.; Carvill, G. L.; Lesca, G.
    Early-Onser Epilepsy and Severe cognitive Impairment in six Patients with the de NOVO P.GLU590LYS Variantof CUX2
    In: Epilepsia Jg. 58 (2017) Nr. Suppl. 5, S. S65
    Online Volltext: dx.doi.org/
  • Romaniello, Romina; Arrigoni, Filippo; Panzeri, Elena; Poretti, Andrea; Micalizzi, Alessia; Citterio, Andrea; Bedeschi, Maria Francesca; Berardinelli, Angela; Cusmai, Raffaella; D’Arrigo, Stefano; Ferraris, Alessandro; Hackenberg, Annette; Küchler, Alma; Mancardi, Margherita; Nuovo, Sara; Oehl-Jaschkowitz, Barbara; Rossi, Andrea; Signorini, Sabrina; Tüttelmann, Frank; Wahl, Dagmar; Hehr, Ute; Boltshauser, Eugen; Bassi, Maria Teresa; Valente, Enza Maria; Borgatti, Renato
    Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation
    In: European Radiology Jg. 27 (2017) Nr. 12, S. 5093
    Online Volltext: dx.doi.org/
  • Bramswig, Nuria C.; Lüdecke, Hermann-Josef; Hamdan, Fadi F.; Altmüller, Janine; Beleggia, Filippo; Elcioglu, Nursel H.; Freyer, Catharine; Gerkes, Erica H.; Demirkol, Yasemin Kendir; Knupp, Kelly G.; Küchler, Alma; Li, Yun; Lowenstein, Daniel H.; Michaud, Jacques L.; Park, Kristen; Stegmann, Alexander P.A.; Veenstra-Knol, Hermine E.; Wieland, Thomas; Wollnik, Bernd; Engels, Hartmut; Strom, Tim M.; Kleefstra, Tjitske; Wieczorek, Dagmar
    Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability
    In: Human Genetics Jg. 136 (2017) Nr. 7, S. 821 - 834
    Online Volltext: dx.doi.org/
  • Bramswig, Nuria C.; Lüdecke, Hermann-Josef; Pettersson, M.; Albrecht, Beate; Bernier, R.A.; Cremer, K.; Eichler, E.E.; Falkenstein, D.; Gerdts, J.; Jansen, S.; Kuechler, A.; Kvarnung, M.; Lindstrand, A.; Nilsson, D.; Nordgren, A.; Pfundt, R.; Spruijt, L.; Surowy, H.M.; de Vries, B.B.A.; Wieland, T.; Engels, H.; Strom, T.M.; Kleefstra, T.; Wieczorek, Dagmar
    Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism
    In: Human Genetics Jg. 136 (2017) Nr. 2, S. 179 - 192
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Beygo, Jasmin; Küchler, Alma; Gillessen-Kaesbach, Gabriele; Albrecht, Beate; Eckle, Jonas; Eggermann, Thomas; Gellhaus, Alexandra; Kanber, Deniz; Kordaß, Ulrike; Lüdecke, Hermann-Josef; Purmann, Sabine; Rossier, Eva; van de Nes, Johannes; Van Der Werf, Ilse M; Wenzel, Maren; Wieczorek, Dagmar; Horsthemke, Bernhard; Buiting, Karin
    New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome
    In: European Journal of Human Genetics Jg. 25 (2017) Nr. 8, S. 935 - 945
    Online Volltext: dx.doi.org/
  • Romaniello, Romina; Arrigoni, Filippo; Panzeri, Elena; Poretti, Andrea; Micalizzi, Alessia; Citterio, Andrea; Bedeschi, Maria Francesca; Berardinelli, Angela; Cusmai, Raffaella; D’Arrigo, Stefano; Ferraris, Alessandro; Hackenberg, Annette; Küchler, Alma; Mancardi, Margherita; Nuovo, Sara; Oehl-Jaschkowitz, Barbara; Rossi, Andrea; Signorini, Sabrina; Tüttelmann, Frank; Wahl, Dagmar; Hehr, Ute; Boltshauser, Eugen; Bassi, Maria Teresa; Valente, Enza Maria; Borgatti, Renato
    Tubulin-related cerebellar dysplasia : definition of a distinct pattern of cerebellar malformation
    In: European Radiology Jg. 27 (2017) Nr. 12, S. 5080 - 5092
    Online Volltext: dx.doi.org/
  • Redler, Silke; Strom, Tim M; Wieland, Thomas; Cremer, Kirsten; Engels, Hartmut; Distelmaier, Felix; Schaper, Jörg; Küchler, Alma; Lemke, Johannes R; Jeschke, Stephanie; Schreyer, Nicole; Sticht, Heinrich; Koch, Margarete; Lüdecke, Hermann-Josef; Wieczorek, Dagmar
    Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID
    In: European Journal of Human Genetics Jg. 25 (2017) Nr. 7, S. 889 - 893
    Online Volltext: dx.doi.org/
  • Hackmann, Karl; Rump, Andreas; Haas, Stefan A.; Lemke, Johannes R.; Fryns, Jean-Pierre; Tzschach, Andreas; Wieczorek, Dagmar; Albrecht, Beate; Küchler, Alma; Ripperger, Tim; Kobelt, Albrecht; Oexle, Konrad; Tinschert, Sigrid; Schrock, Evelin; Kalscheuer, Vera M.; Di Donato, Nataliya
    Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?
    In: American Journal of Medical Genetics, Part A Jg. 170 (2016) Nr. 1, S. 94 - 102
    Online Volltext: dx.doi.org/
  • Di Donato, Nataliya; Küchler, Alma; Velgano, Samantha; Heinritz, Wolfram; Bodurtha, Joann; Merchant, Sabiha R.; Breningstall, Galen; Ladda, Roger; Sell, Susan; Altmüller, Janine; Bögershausen, Nina; Timms, Andrew E.; Hackmann, Karl; Schrock, Evelin; Collins, Sarah; Olds, Carissa; Rump, Andreas; Dobyns, William B.
    Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome
    In: American Journal of Medical Genetics, Part A Jg. 170 (2016) Nr. 10, S. 2644 - 2651
    Online Volltext: dx.doi.org/ (Open Access)
  • Neuhann, Teresa M.; Stegerer, Annette; Rieß, Angelika; Blair, Edward; Martin, Thomas; Wieser, Stefanie; Kläs, Rüdiger; Bouman, Arjan; Küchler, Alma; Rittinger, Olaf
    ADAMTSL4-associated isolated ectopia lentis : Further patients, novel mutations and a detailed phenotype description
    In: American Journal of Medical Genetics, Part A Jg. 167 (2015) Nr. 10, S. 2376 - 2381
    Online Volltext: dx.doi.org/
  • Küchler, Alma; Willemsen, Marjolein H.; Albrecht, Beate; Bacino, Carlos A.; Bartholomew, Dennis W.; Bokhoven, Hans van; Boogaard, Marie Jose H. van den; Bramswig, Nuria; Büttner, Christian; Cremer, Kirsten; Czeschik, Johanna Christina; Engels, Hartmut; Gassen, Koen van; Graf, Elisabeth; Haelst, Mieke van; He, Weimin; Hogue, Jacob S.; Kempers, Marlies; Koolen, David; Monroe, Glen; Munnik, Sonja de; Pastore, Matthew; Reis, André; Reuter, Miriam S.; Tegay, David H.; Veltman, Joris; Visser, Gepke; Hasselt, Peter van; Smeets, Eric E. J.; Vissers, Lisenka; Wieland, Thomas; Wissink, Willemijn; Yntema, Helger; Zink, Alexander Michael; Strom, Tim M.; Lüdecke, Hermann-Josef; Kleefstra, Tjitske; Wieczorek, Dagmar
    De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability : expanding the mutational and clinical spectrum
    In: Human genetics Jg. 134 (2015) Nr. 1, S. 97 - 109
    Online Volltext: dx.doi.org/
  • Küchler, Alma; Borck, Guntram; Kubisch, Christian; Kotthoff, Stefan; Nürnberg, Peter; Altmüller, Janine
    Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome
    In: Molecular and Cellular Probes Jg. 29 (2015) Nr. 5, S. 330 - 334
    Online Volltext: dx.doi.org/
  • 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; Küchler, 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
    Next-generation sequencing in X-linked intellectual disability
    In: European Journal of Human Genetics Jg. 23 (2015) Nr. 11, S. 1513 - 1518
    Online Volltext: dx.doi.org/ (Open Access)
  • Czeschik, J. C.; Albrecht, Beate; Kayserili, H.; Küchler, Alma; Wagner, N.; Wieczorek, Dagmar; Lüdecke, Hermann-Josef
    A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein–Taybi syndrome
    In: Clinical Dysmorphology Jg. 23 (2014) Nr. 2, S. 67 - 70
    Online Volltext: dx.doi.org/
  • Wieczorek, Dagmar; Newman, William G.; Wieland, Thomas; Berulava, Tea; Kaffe, Maria; Falkenstein, Daniela; Beetz, Christian; Graf, Elisabeth; Schwarzmayr, Thomas; Douzgou, Sofia; Clayton-Smith, Jill; Daly, Sarah B.; Williams, Simon G.; Bhaskar, Sanjeev S.; Urquhart, Jill E.; Anderson, Beverley H.; O'Sullivan, James B.; Boute, Odile; Gundlach, Jasmin; Czeschik, Johanna C. H.; Van Essen, Anthonie J.; Hazan, Filiz; Park, Sarah; Hing, Anne; Küchler, Alma; Lohmann, Dietmar; Ludwig, Kerstin U.; Mangold, Elisabeth; Steenpaß, Laura; Zeschnigk, Michael; Lemke, Johannes R.; Lourenço, Charles M. A.; Hehr, Ute; Prott, Eva C.; Waldenberger, Melanie; Böhmer, Anne C.; Horsthemke, Bernhard; O'Keefe, Raymond T.; Meitinger, Thomas A.; Burn, John; Lüdecke, Hermann-Josef; Strom, Tim M.
    Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome
    In: The American Journal of Human Genetics Jg. 95 (2014) Nr. 6, S. 698 - 707
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Wieczorek, Dagmar; Bögershausen, Nina; Beleggia, Filippo; Steiner-Haldenstätt, Sabine; Pohl, Esther; Li, Yun; Milz, Esther; Martin, Marcel; Thiele, Holger; Altmüller, Janine; Alanay, Yasemin; Kayserili, Hülya; Klein-Hitpaß, Ludger; Böhringer, Stefan; Wollstein, Andreas; Albrecht, Beate; Boduroglu, Koray; Caliebe, Almuth; Chrzanowska, Krystyna; Cogulu, Ozgur; Cristofoli, Francesca; Czeschik, Johanna Christina; Devriendt, Koenraad; Dotti, Maria Teresa; Elcioglu, Nursel; Gener, Blanca; Goecke, Timm O.; Krajewska-Walasek, Małgorzata; Guillén-Navarro, Encarnación; Hayek, Joussef; Houge, Gunnar; Kilic, Esra; Simsek-Kiper, Pelin Özlem; López-González, Vanesa; Küchler, Alma; Lyonnet, Stanislas; Mari, Francesca; Marozza, Annabella; Dramard, Michèle Mathieu; Mikat, Barbara; Morin, Gilles; Morice-Picard, Fanny; Özkinay, Ferda; Rauch, Anita; Renieri, Alessandra; Tinschert, Sigrid; Eda Utine, G.; Vilain, Catheline; Vivarelli, Rossella; Zweier, Christiane; Nürnberg, Peter; Rahmann, Sven; Vermeesch, Joris; Lüdecke, Hermann-Josef; Zeschnigk, Michael; Wollnik, Bernd
    A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies abroad molecular and clinical spectrum converging on altered chromatin remodelingremodeling
    In: Human Molecular Genetics Jg. 22 (2013) Nr. 25, S. 5121 - 5135
    Online Volltext: dx.doi.org/
  • Czeschik, Christina; Voigt, C.; Alanay, Y.; Albrecht, Beate; Avci, S.; Fitzpatrick, D.; Goudie, D.R.; Hehr, U.; Hoogeboom, A.J.; Kayserili, H.; Simsek-Kiper, P.O.; Klein-Hitpaß, Ludger; Küchler, Alma; López-González, V.; Martin, M.; Rahmann, Sven; Schweiger, Bernd; Splitt, M.; Wollnik, B.; Lüdecke, Hermann-Josef; Zeschnigk, Michael; Wieczorek, Dagmar
    Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome
    In: Human Genetics Jg. 132 (2013) Nr. 8, S. 885 - 898
    Online Volltext: dx.doi.org/
  • Vergult, Sarah; Hoogeboom, A. Jeannette M.; Bijlsma, Emilia K.; Sante, Tom; Klopocki, Eva; De Wilde, Bram; Jongmans, Marjolijn; Thiel, Christian; Verheij, Joke BGM; Perez-Aytes, Antonio; Van Esch, Hilde; Küchler, Alma; Barge-Schaapveld, Daniela QCM; Sznajer, Yves; Mortier, Geert; Menten, Björn
    Complex genetics of radial ray deficiencies : screening of a cohort of 54 patients
    In: Genetics in Medicine Jg. 15 (2013) Nr. 3, S. 195 - 202
    Online Volltext: dx.doi.org/
  • Revencu, Nicole; Boon, Laurence; Dompmartin, Anne; Rieu, Paul Nicolas; Busch, Wolfgang L.; Dubois, Josée M.; Forzano, Francesca; Van Hagen, Johanna Maria; Halbach, Sara S.; Küchler, Alma; Lachmeijer, Augusta M. A.; Lähde, Jyrki; Russell, Laura J.; Simola, Kalle Oj J; Mulliken, John Butler; Vikkula, M.
    Germline mutations in RASA1 are not found in patients with Klippel-Trenaunay syndrome or capillary malformation with limb overgrowth
    In: Molecular Syndromology Jg. 4 (2013) Nr. 4, S. 173 - 178
    Online Volltext: dx.doi.org/
  • Schmidts, Miriam; Vodopiutz, Julia; Christou-Savina, Sonia; Cortés, Claudio R.; McInerney-Leo, Aideen M.; Emes, Richard D.; Arts, Heleen H.; Tüysüz, Beyhan; D'Silva, Jason; Leo, Paul J.; Giles, Tom C.; Oud, Machteld M.; Harris, Jessica A.; Koopmans, Marije; Marshall, Mhairi; Elçioglu, Nursel; Küchler, Alma; Bockenhauer, Detlef; Moore, Anthony T.; Wilson, Louise C.; Janecke, Andreas R.; Hurles, Matthew E.; Emmet, Warren; Gardiner, Brooke; Streubel, Berthold; Dopita, Belinda; Zankl, Andreas; Kayserili, Hülya; Scambler, Peter J.; Brown, Matthew A.; Beales, Philip L.; Wicking, Carol; Duncan, Emma L.; Mitchison, Hannah M.
    Mutations in the gene encoding IFT dynein complex component WDR34 cause jeune asphyxiating thoracic dystrophy
    In: American Journal of Human Genetics Jg. 93 (2013) Nr. 5, S. 932 - 944
    Online Volltext: dx.doi.org/
  • Voigt, Claudia; Mégarbané, André; Neveling, Kornelia; Czeschik, Johanna Christina; Albrecht, Beate; Callewaert, Bert; Von Deimling, Florian; Hehr, Andreas; Falkenberg Smeland, Marie; König, Rainer; Küchler, Alma; Marcelis, Carlo; Puiu, Maria; Reardon, Willie; Riise Stensland, Hilde Monica Frostad; Schweiger, Bernd; Steehouwer, Marloes; Teller, Christopher; Martin, Marcel; Rahmann, Sven; Hehr, Ute; Brunner, Han G; Lüdecke, Hermann-Josef; Wieczorek, Dagmar
    Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - Expanding the phenotypes associated with EFTUD2 mutations
    In: Orphanet Journal of Rare Diseases Jg. 8 (2013) Nr. 1, S. 110
    Online Volltext: dx.doi.org/ (Open Access)
  • Dikow, Nicola; Maas, Bianca; Gaspar, Harald; Kreiss-Nachtsheim, Martina; Engels, Hartmut; Küchler, Alma; Garbes, Lutz; Netzer, Christian; Neuhann, Teresa M.; Koehler, Udo; Casteels, Kristina; Devriendt, Koen; Janssen, Johannes W.G.; Jauch, Anna; Hinderhofer, Katrin; Moog, Ute
    The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1 : Is it really a reversed sotos syndrome?
    In: American Journal of Medical Genetics, Part A Jg. 161 (2013) Nr. 9, S. 2158 - 2166
    Online Volltext: dx.doi.org/
  • Czeschik, Johanna Christina; Voigt, Claudia; Goecke, Timm O.; Lüdecke, Hermann-Josef; Wagner, Nicholas; Küchler, Alma; Wieczorek, Dagmar
    Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9
    In: American Journal of Medical Genetics, Part A Jg. 161 (2013) Nr. 2, S. 295 - 300
    Online Volltext: dx.doi.org/
  • Czeschik, Johanna Christina; Bauer, Peter; Buiting, Karin; Dufke, Claudia; Guillén-Navarro, Encarna; Johnson, Diana S; Koehler, Udo; López-González, Vanesa; Lüdecke, Hermann-Josef; Male, Alison; Morrogh, Deborah; Rieß, Angelika; Tzschach, Andreas; Wieczorek, Dagmar; Küchler, Alma
    X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity
    In: Orphanet Journal of Rare Diseases Jg. 8 (2013) Nr. 1, S. 146
    Online Volltext: dx.doi.org/ (Open Access)
  • Küchler, Alma; Hentschel, J; Kurth, Isabella; Stephan, B; Prott, E-C; Schweiger, Bernd; Schuster, A; Wieczorek, Dagmar; Lüdecke, Hermann-Josef
    A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature.
    In: Molecular Syndromology Jg. 3 (2012) Nr. 5, S. 223 - 229
    Online Volltext: dx.doi.org/
  • van Houdt, Jeroen K. J.; Nowakowska, Beata Anna; Sousa, Sérgio B.; van Schaik, Barbera D. C.; Seuntjens, Eve; Avonce, Nelson; Sifrim, Alejandro; Abdul-Rahman, Omar A.; van Den Boogaard, Marie-José H.; Bottani, Armand; Castori, Marco; Cormier-Daire, Valérie; Deardorff, Matthew A.; Filges, Isabel; Fryer, Alan; Fryns, Jean-Pierre; Gana, Simone; Garavelli, Livia; Gillessen-Kaesbach, Gabriele; Hall, Bryan D.; Horn, Denise; Huylebroeck, Danny; Klapecki, Jakub; Krajewska-Walasek, Malgorzata; Küchler, Alma; Lines, Matthew A.; Maas, Saskia; MacDermot, Kay D.; McKee, Shane; Magee, Alex; De Man, Stella A.; Moreau, Yves; Morice-Picard, Fanny; Obersztyn, Ewa; Pilch, Jacek; Rosser, Elizabeth; Shannon, Nora; Stolte-Dijkstra, Irene; van Dijck, Patrick; Vilain, Catheline; Vogels, Annick; Wakeling, Emma; Wieczorek, Dagmar; Wilson, Louise; Zuffardi, Orsetta; van Kampen, Antoine H. C.; Devriendt, Koenraad; Hennekam, Raoul; Vermeesch, Joris Robert
    Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
    In: Nature Genetics Jg. 44 (2012) Nr. 4, S. 445 - 449
    Online Volltext: dx.doi.org/
  • Linglart, Agnès; Fryssira, Helena; Hiort, Olaf; Holterhus, Paul-Martin; Perez De Nanclares, Guiomar; Argente, Jesús; Heinrichs, Claudine; Küchler, Alma; Mantovani, Giovanna; Leheup, Bruno; Wicart, Philippe; Chassot, Virginie; Schmidt, Dorothée; Rubio-Cabezas, Óscar; Richter-Unruh, Annette; Berrade, Sara; Pereda, Arrate; Boros, Emese; Muñoz-Calvo, Maria Teresa; Castori, Marco; Gunes, Yasemin; Bertrand, Guylene; Bougnères, Pierre; Clauser, Eric; Silve, Caroline
    PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance
    In: The Journal of Clinical Endocrinology & Metabolism (JCEM) Jg. 97 (2012) Nr. 12, S. E2328 - E2338
    Online Volltext: dx.doi.org/ (Open Access)
  • Wohlleber, Eva; Kirchhoff, Maria; Zink, Alexander M.; Kreiß-Nachtsheim, Martina; Küchler, Alma; Jepsen, Birgit; Kjaergaard, Susanne; Engels, Hartmut
    Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation
    In: European Journal of Medical Genetics (EJMG) Jg. 54 (2011) Nr. 1, S. 67 - 72
    Online Volltext: dx.doi.org/
  • Küchler, Alma; Buysse, Karen; Clayton-Smith, Jill; Le Caignec, Cédric; David, Albert; Engels, Hartmut; Kohlhase, Jürgen; Mari, Francesca; Mortier, Geert; Renieri, Alessandra; Wieczorek, Dagmar
    Five patients with novel overlapping interstitial deletions in 8q22.2q22.3
    In: American Journal of Medical Genetics, Part A Jg. 155 (2011) Nr. 8, S. 1857 - 1864
    Online Volltext: dx.doi.org/
  • Küchler, Alma; Wieczorek, Dagmar
    Syndrome mit dem Leitsymptom Großwuchs
    In: Medizinische Genetik Jg. 23 (2011) Nr. 4, S. 505 - 517
    Online Volltext: dx.doi.org/
  • Küchler, Alma; Hauffa, Berthold; Köninger, Angela; Kleinau, Gunnar; Albrecht, Beate; Horsthemke, Bernhard; Gromoll, Jörg
    An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance
    In: European Journal of Human Genetics Jg. 18 (2010) Nr. 6, S. 656 - 661
    Online Volltext: dx.doi.org/
  • Ledig, Susanne; Hiort, Olaf; Scherer, Gerd; Hoffmann, Mandy; Wolff, Gerhard; Morlot, Susanne; Küchler, Alma; Wieacker, Peter
    Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis : evaluation of array CGH as diagnostic tool and search for new candidate loci
    In: Human Reproduction Jg. 25 (2010) Nr. 10, S. 2637 - 2646
    Online Volltext: dx.doi.org/ (Open Access)
  • Guettsches, Anne-Katrin; Küchler, Alma; Gal, Andreas; Schmitz, Werner; Tegenthoff, Martin; Vorgerd, Matthias
    Erratum: Female carriers of X-chromosomal adrenoleukodystrophy : A major differential diagnosis in progressive myelopathy
    In: Journal of Neurology Jg. 257 (2010) Nr. 8, S. 1417
    Online Volltext: dx.doi.org/ (Open Access)
  • Guettsches, Anne-Katrin; Küchler, Alma; Gal, Andreas; Schmitz, Werner; Tegenthoff, Martin; Vorgerd, Matthias
    Female carriers of X-chromosomal adrenoleukodystrophy : A major differential diagnosis in progressive myelopathy
    In: Journal of Neurology Jg. 257 (2010) Nr. 8, S. 1394 - 1395
    Online Volltext: dx.doi.org/
  • König, Rainer; Meinecke, Peter; Küchler, Alma; Schäfer, Dieter; Müller, Dietmar
    Wiedemann-Steiner syndrome : three further cases
    In: American Journal of Medical Genetics, Part A Jg. 152 (2010) Nr. 9, S. 2372 - 2375
    Online Volltext: dx.doi.org/

    • Abstracts

  • Lopez Gonzalez, Vanesa; Ballesta-Martinez, Mary; Sanchez-Soler, Jose M.; Serrano-Anton, Ana Teresa; Glover-Lopez, Guillermo; Ezquieta-Zubicaray, Begona; Küchler, Alma; Albrecht, Beate; Wieczorek, Dagmar; Zorio, Esther; Lissewski, Christina; Zenker, Martin; Guillen-Navarro, Encarna
    Clinical and molecular characterization of a group of Spanish and German patients with Noonan syndrome
    In: European Journal of Human Genetics Jg. 30 (2022) Nr. Suppl. 1, S. 355 - 356
  • Grosse, Martin; Dabir, Tabib; McKee, Shane; Beck-Wodl, Stefanie; Manka, Eva; Küchler, Alma; Depienne, Christel; Kaiser, Frank
    Investigation of two novel SOX4 mutations found in patients with intellectual disability
    In: European Journal of Human Genetics Jg. 30 (2022) Nr. Suppl. 1, S. 252
  • Gangfuß, Andrea; Czech, A.; Hentschel, A.; Münchberg, U.; Horvath, R.; Töpf, A.; O'Heir, E.; Lochmüller, H.; Stehling, Florian; Kiewert, C.; Sickmann, A.; Küchler, Alma; Frank, K.; Kölbel, H.; Christiansen, J.; Schara-Schmidt, Ulrike; Roos, Andreas;
    EP.305 Homozygous WASHC4 variant in two sisters causes a syndromic phenotype with skeletal muscle involvement
    26th International Congress of the World Muscle Society; 20th– 24th September 2021,
    In: Neuromuscular Disorders Jg. 31 (2021) S. S143
    Online Volltext: dx.doi.org/
  • Furlan, Margherita; Lesca, Gaetan; Küchler, Alma
    Expanding the phenotypic and genetic CUX2 spectrum
    In: Epilepsia Jg. 62 (2021) Nr. Suppl. 3, S. 217 - 218
    Online Volltext: dx.doi.org/ (Open Access)
  • Khuller, K.; Haack, T.; Finetti, C.; Kaiser, F. J.; Küchler, Alma;
    A 3-year old girl with Hypotonia, Ataxia, And Delayed- Development Syndrom (HADDS)
    53rd European Society of Human Genetics (ESHG) Conference ; June 6–9, 2020, Virtual Conference,
    In: European Journal of Human Genetics Jg. 28 (2020) Nr. Supplement 1, S. 868 - 869
    Online Volltext: dx.doi.org/ (Open Access)
  • Lissewski, C.; Chune, V.; Küchler, Alma; Zenker, M.; et al.;
    Genotype and phenotype in patients with Noonan syndrome caused by SOS2 variants
    53rd European Society of Human Genetics (ESHG) Conference ; June 6-9, 2020, Virtual Conference,
    In: European Journal of Human Genetics Jg. 28 (2020) Nr. Supplement 1, S. 475 - 476
    Online Volltext: dx.doi.org/ (Open Access)
  • Gregor, A.; Meerbrei, T.; Distel, L.; Gerstner, T.; Gupta, A.; Toutain, A.; Lynch, S. A.; Maxton, C.; Lemke, J. R.; Bernat, J. A.; Bombei, H. M.; Foulds, N.; Küchler, Alma; Bouman, A.; Palomares Bralo, M.; Santos Simarro, F.; Garcia-Minaur, S.; Zweier, C.;
    Missense variants in NDD-associated FBXO11 impair its localization and Fbxo11 deficiency leads to neuronal impairment in Drosophila melanogaster
    53rd European Society of Human Genetics (ESHG) Conference ; June 6-9, 2020, Virtual Conference,
    In: European Journal of Human Genetics Jg. 28 (2020) Nr. Supplement 1, S. 353 - 354
    Online Volltext: dx.doi.org/ (Open Access)
  • den Hoed, J.; de Boer, E.; Küchler, Alma; Fisher, S. E.; et al.;
    Mutation-specific pathophysiological mechanisms in a new SATB1-associated neurodevelopmental disorder
    53rd European Society of Human Genetics (ESHG) Conference ; June 6-9, 2020, Virtual Conference,
    In: European Journal of Human Genetics Jg. 28 (2020) Nr. Supplement 1, S. 32 - 33
    Online Volltext: dx.doi.org/ (Open Access)
  • Marbach, Felix; Elgizouli, Magdeldin; Rech, Megan; Beygo, Jasmin; Erger, Florian; Velmans, Clara; Stumpel, Constance T. R. M.; Stegmann, Alexander P. A.; Beck-Wödl, Stefanie; Gillessen-Kaesbach, Gabriele; Horsthemke, Bernhard; Schaaf, Christian P.; Küchler, Alma;
    The adult phenotype of Schaaf-Yang syndrome
    53rd European Society of Human Genetics (ESHG) Conference ; June 6-9, 2020, Virtual Conference,
    In: European Journal of Human Genetics Jg. 28 (2020) Nr. Supplement 1, S. 360
    Online Volltext: dx.doi.org/ (Open Access)
  • Meyer, R.; Begemann, M.; Hübner, C.; Dey, D.; Küchler, Alma; Elgizouli, Magdeldin; Kroisel, P.; Fekete, G.; Ambrozaityte, L.; Matuleviciene, A.; Elbracht, M.; Eggermann, T.;
    WES expands the mutational spectrum in patients with Silver-Russell syndrome features
    53rd European Society of Human Genetics (ESHG) Conference ; June 6-9, 2020, Virtual Conference,
    In: European Journal of Human Genetics Jg. 28 (2020) Nr. Supplement 1, S. 229 - 230
    Online Volltext: dx.doi.org/ (Open Access)
  • Azzarello-Burri, S.; Joset, P.; Andrieux, J.; Lopes, F.; Palmer, E.; Czeschik, J.; Demeer, B; Duque, F.; Küchler, Alma; Maciel, P.; Hackenberg, A.; Oneda, B.; Rauch, A.
    Further delineation of a novel 2q11.1q11.2 micro-duplication syndrome
    In: European Journal of Human Genetics Jg. 26 (2019) Nr. Suppl., S. 326
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  • Chatron, N.; Moller, R.S.; Champaigne, N.L.; Küchler, Alma; Labalme, A.; Baggett, L.; Wieczorek, Dagmar; Gardella, E.; Scheffer, I.A.
    Severe cognitive impairment and early-onset epilepsy in six patients with the de novo p.Glu590Lys variant of CUX2
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    Online Volltext: dx.doi.org/ (Open Access)

    • Bücher/Sammelwerke/Tagungsbände

  • Küchler, Alma
    Klinische und molekulargenetische Charakterisierung seltener genetischer Syndrome
    Duisburg ; Essen (2018) 1 CD-ROM