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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

  • Yousaf, Hammad; de Koning, Maayke A.; Khan, Kamal; Gilmore, Kelly L.; Hoffer, Mariëtte J.V.; Kellaris, Georgios; Lanone, Sophie; Dagouassat, Maylis; Ullah, Farid; Adama van Scheltema, Phebe N.; Heron, Delphine; Capri, Yline; Küchler, Alma; Schweiger, Bernd; Haak, Monique C.; Keren, Boris; Tran Mau Them, Frederic; Peeters-Scholte, Cacha M.P.C.D.; Kaiser, Frank J.; Koopmann, Tamara T.; Mei, Hailiang; Yalcin, Binnaz; Depienne, Christel; Vora, Neeta L.; Santen, Gijs W.E.; Davis, Erica E.
    Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder
    In: The American Journal of Human Genetics, Jg. 112, 2025, Nr. 10, S. 2402 – 2421
    DOI (Open Access)
  • Schmidt, Axel; Danyel, Magdalena; Grundmann, Kathrin; Brunet, Theresa; Klinkhammer, Hannah; Hsieh, Tzung-Chien; Engels, Hartmut; Peters, Sophia; Knaus, Alexej; Moosa, Shahida; Averdunk, Luisa; Boschann, Felix; Sczakiel, Henrike Lisa; Schwartzmann, Sarina; Mensah, Martin Atta; Pantel, Jean Tori; Holtgrewe, Manuel; Bösch, Annemarie; Weiß, Claudia; Weinhold, Natalie; Suter, Aude-Annick; Stoltenburg, Corinna; Neugebauer, Julia; Kallinich, Tillmann; Kaindl, Angela M.; Holzhauer, Susanne; Bührer, Christoph; Bufler, Philip; Kornak, Uwe; Ott, Claus-Eric; Schülke, Markus; Nguyen, Hoa Huu Phuc; Hoffjan, Sabine; Grasemann, Corinna; Rothoeft, Tobias; Brinkmann, Folke; Matar, Nora; Sivalingam, Sugirthan; Perne, Claudia; Mangold, Elisabeth; Kreiss, Martina; Cremer, Kirsten; Betz, Regina C.; Mücke, Martin; Grigull, Lorenz; Klockgether, Thomas; Spier, Isabel; Heimbach, André; Bender, Tim; Brand, Fabian; Stieber, Christiane; Morawiec, Alexandra Marzena; Karakostas, Pantelis; Schäfer, Valentin S.; Bernsen, Sarah; Weydt, Patrick; Castro-Gomez, Sergio; Aziz, Ahmad; Grobe-Einsler, Marcus; Kimmich, Okka; Kobeleva, Xenia; Önder, Demet; Lesmann, Hellen; Kumar, Sheetal; Tacik, Pawel; Bhasin, Meghna Ahuja; Incardona, Pietro; Lee-Kirsch, Min Ae; Berner, Reinhard; Schuetz, Catharina; Körholz, Julia; Kretschmer, Tanita; Di Donato, Nataliya; Schröck, Evelin; Heinen, André; Reuner, Ulrike; Hanßke, Amalia-Mihaela; Kaiser, Frank J.; Manka, Eva; Munteanu, Martin; Küchler, Alma; Cordula, Kiewert; Hirtz, Raphael; Schlapakow, Elena; Schlein, Christian; Lisfeld, Jasmin; Kubisch, Christian; Herget, Theresia; Hempel, Maja; Weiler-Normann, Christina; Ullrich, Kurt; Schramm, Christoph; Rudolph, Cornelia; Rillig, Franziska; Groffmann, Maximilian; Muntau, Ania; Tibelius, Alexandra; Schwaibold, Eva M. C.; Schaaf, Christian P.; Zawada, Michal; Kaufmann, Lilian; Hinderhofer, Katrin; Okun, Pamela M.; Kotzaeridou, Urania; Hoffmann, Georg F.; Choukair, Daniela; Bettendorf, Markus; Spielmann, Malte; Ripke, Annekatrin; Pauly, Martje; Münchau, Alexander; Lohmann, Katja; Hüning, Irina; Hanker, Britta; Bäumer, Tobias; Herzog, Rebecca; Hellenbroich, Yorck; Westphal, Dominik S.; Strom, Tim; Kovacs, Reka; Riedhammer, Korbinian M.; Mayerhanser, Katharina; Graf, Elisabeth; Brugger, Melanie; Hoefele, Julia; Oexle, Konrad; Mirza-Schreiber, Nazanin; Berutti, Riccardo; Schatz, Ulrich; Krenn, Martin; Makowski, Christine; Weigand, Heike; Schröder, Sebastian; Rohlfs, Meino; Vill, Katharina; Hauck, Fabian; Borggraefe, Ingo; Müller-Felber, Wolfgang; Kurth, Ingo; Elbracht, Miriam; Knopp, Cordula; Begemann, Matthias; Kraft, Florian; Lemke, Johannes R.; Hentschel, Julia; Platzer, Konrad; Strehlow, Vincent; Abou Jamra, Rami; Kehrer, Martin; Demidov, German; Beck-Wödl, Stefanie; Graessner, Holm; Sturm, Marc; Zeltner, Lena; Schöls, Ludger J.; Magg, Janine; Bevot, Andrea; Kehrer, Christiane; Kaiser, Nadja; Turro, Ernest; Horn, Denise; Grüters-Kieslich, Annette; Klein, Christoph; Mundlos, Stefan; Nöthen, Markus; Riess, Olaf; Meitinger, Thomas; Krude, Heiko; Krawitz, Peter M.; Haack, Tobias; Ehmke, Nadja; Wagner, Matias
    Correction to: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
    In: Nature Genetics, Jg. 57, 2025, Nr. 7, S. 1790 – 1791
    DOI (Open Access)
  • Lessel, Ivana; Baresic, Anja; Chinn, Ivan K.; May, Jonathan; Goenka, Anu; Chandler, Kate E.; Posey, Jennifer E.; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; Calle-Martín, Oscar de la; Capra, Valeria; Cardenas, Paul; Chappé, Céline; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christèle; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Hüning, Irina; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma; Jin, Jay J.; Jorge, Alexander A.L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Kölbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppälä, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K.G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, Davor; Undiagnosed Diseases Network
    DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
    In: The American Journal of Human Genetics, Jg. 112, 2025, Nr. 2, S. 394 – 413
    DOI (Open Access)
  • Peng, Xiaoxia; Jia, Xiangbin; Wang, Hanying; Chen, Jingjing; Zhang, Xiaolei; Tan, Senwei; Duan, Xinyu; Qiu, Can; Hu, Mengyuan; Hou, Haiyan; Parenti, Ilaria; Küchler, Alma; Kaiser, Frank J.; Renck, Alicia; Caylor, Raymond; Skinner, Cindy; Peeden, Joseph; Cogne, Benjamin; Isidor, Bertrand; Mercier, Sandra; Nicolas, Gael; Guerrot, Anne-Marie; Faletra, Flavio; Musante, Luciana; Cohen, Lior; Bergant, Gaber; Čuturilo, Goran; Peterlin, Borut; Seeley, Andrea; Bachman, Kristine; Martinez-Agosto, Julian A.; van Ravenswaaij-Arts, Conny; Bos, Dennis; Kim, Katherine H.; Bartolomaeus, Tobias; Schmederer, Zelia; Abou Jamra, Rami; Aref-Eshghi, Erfan; Zhao, Wenjing; Zou, Yongyi; Hu, Zhengmao; Pan, Qian; Li, Faxiang; Chen, Guodong; Li, Jiada; Hu, Zhangxue; Xia, Kun; Tan, Jieqiong; Guo, Hui
    Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development
    In: The Journal of Clinical Investigation (JCI), Jg. 135, 2025, Nr. 22, e191729
    DOI (Open Access)
  • Nava, Caroline; Leitão, Elsa; Kaiser, Frank; Lüthy, Kevin; Schröder, Christopher; Küchler, Alma; Depienne, Christel
    Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
    In: Nature Genetics, Jg. 57, 2025, Nr. 6, S. 1374 – 1388
    DOI (Open Access)
  • Aukema, Sietse M.; Vandenput, Kim; Scarano, Emanuela; Goel, Himanshu; Guo, Lily; Vanneste, Michiel; Devriendt, Koen; Zwaveling-Soonawala, Nitash; Kiewert, Cordula; Küchler, Alma; Parenti, Ilaria; Orlandini, Eleonora; de Boer, Elke; Banka, Siddharth; Wall, Elizabeth; Lyon, Gholson J.; Low, Karen J.; Geelen, Joyce M.; van der Zwan, Yvonne G.; Ockeloen, Charlotte W.
    Growth Hormone Treatment in Patients With KBG Syndrome : Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review
    In: American Journal of Medical Genetics, Part A, Jg. 197, 2025, Nr. 12, e64168
    DOI (Open Access)
  • Rots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J.M.; de Vries, Bert B.A.; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W.; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Küchler, Alma; Elffers, Bart; van Beeck Calkoen, Rixje; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W.E.; Metcalfe, Kay; Park, Soo-Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M.; Bijlsma, Emilia K.; Hakonen, Anna H.; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L.; Welling, Lindsey; Plomp, Astrid S.; Vanhoutte, Els K.; Kalsner, Louisa; Hol, Janna A.; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, André; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Özcan, Kübra; Miot, Stéphanie; Volker-Touw, Catharina M.L.; van Gassen, Koen L.I.; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L.; Muir, Alison M.; Sadikovic, Bekim; Brunner, Han G.; Vissers, Lisenka E.L.M.; Shinkai, Yoichi; Kleefstra, Tjitske
    Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
    In: The American Journal of Human Genetics, Jg. 111, 2024, Nr. 8, S. 1605 – 1625
    DOI
  • Chen, Yuyang; Dawes, Ruebena; Kim, Hyung Chul; Ljungdahl, Alicia; Stenton, Sarah L.; Walker, Susan; Lord, Jenny; Lemire, Gabrielle; Martin-Geary, Alexandra C.; Ganesh, Vijay S.; Ma, Jialan; Ellingford, Jamie M.; Delage, Erwan; D’Souza, Elston N.; Dong, Shan; Adams, David R.; Allan, Kirsten; Bakshi, Madhura; Baldwin, Erin E.; Berger, Seth I.; Bernstein, Jonathan A.; Bhatnagar, Ishita; Blair, Ed; Brown, Natasha J.; Burrage, Lindsay C.; Chapman, Kimberly; Coman, David J.; Compton, Alison G.; Cunningham, Chloe A.; D’Souza, Precilla; Danecek, Petr; Délot, Emmanuèle C.; Dias, Kerith-Rae; Elias, Ellen R.; Elmslie, Frances; Evans, Care-Anne; Ewans, Lisa; Ezell, Kimberly; Fraser, Jamie L.; Gallacher, Lyndon; Genetti, Casie A.; Goriely, Anne; Grant, Christina L.; Haack, Tobias; Higgs, Jenny E.; Hinch, Anjali G.; Hurles, Matthew E.; Küchler, Alma; Lachlan, Katherine L.; Lalani, Seema R.; Lecoquierre, François; Leitão, Elsa; Fevre, Anna Le; Leventer, Richard J.; Liebelt, Jan E.; Lindsay, Sarah; Lockhart, Paul J.; Ma, Alan S.; Macnamara, Ellen F.; Mansour, Sahar; Maurer, Taylor M.; Mendez, Hector R.; Metcalfe, Kay; Montgomery, Stephen B.; Moosajee, Mariya; Nassogne, Marie-Cécile; Neumann, Serena; O’Donoghue, Michael; O’Leary, Melanie; Palmer, Elizabeth E.; Pattani, Nikhil; Phillips, John; Pitsava, Georgia; Pysar, Ryan; Rehm, Heidi L.; Reuter, Chloe M.; Revencu, Nicole; Riess, Angelika; Rius, Rocio; Rodan, Lance; Roscioli, Tony; Rosenfeld, Jill A.; Sachdev, Rani; Shaw-Smith, Charles J.; Simons, Cas; Sisodiya, Sanjay M.; Snell, Penny; St Clair, Laura; Stark, Zornitza; Stewart, Helen S.; Tan, Tiong Yang; Tan, Natalie B.; Temple, Suzanna E. L.; Thorburn, David R.; Tifft, Cynthia J.; Uebergang, Eloise; VanNoy, Grace E.; Vasudevan, Pradeep; Vilain, Eric; Viskochil, David H.; Wedd, Laura; Wheeler, Matthew T.; White, Susan M.; Wojcik, Monica; Wolfe, Lynne A.; Wolfenson, Zoe; Wright, Caroline F.; Xiao, Changrui; Zocche, David; Rubenstein, John L.; Markenscoff-Papadimitriou, Eirene; Fica, Sebastian M.; Baralle, Diana; Depienne, Christel; MacArthur, Daniel G.; Howson, Joanna M. M.; Sanders, Stephan J.; O’Donnell-Luria, Anne; Whiffin, Nicola
    De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
    In: Nature, Jg. 632, 2024, Nr. 8026, S. 832 – 840
    DOI (Open Access)
  • 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
    DOI, Online Volltext (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
    DOI (Open Access)
  • Kalm, Tassja; Schob, Claudia; Völler, Hanna; Gardeitchik, Thatjana; Gilissen, Christian; Pfundt, Rolph; Klöckner, Chiara; Platzer, Konrad; Klabunde-Cherwon, Annick; Ries, Markus; Syrbe, Steffen; Beccaria, Francesca; Madia, Francesca; Scala, Marcello; Zara, Federico; Hofstede, Floris; Simon, Marleen E.H.; van Jaarsveld, Richard H.; Oegema, Renske; van Gassen, Koen L.I.; Holwerda, Sjoerd J.B.; Barakat, Tahsin Stefan; Bouman, Arjan; van Slegtenhorst, Marjon; Álvarez, Sara; Fernández-Jaén, Alberto; Porta, Javier; Accogli, Andrea; Mancardi, Margherita Maria; Striano, Pasquale; Iacomino, Michele; Chae, Jong-Hee; Jang, SeSong; Kim, Soo Y.; Chitayat, David; Mercimek-Andrews, Saadet; Depienne, Christel; Kampmeier, Antje; Küchler, Alma; Surowy, Harald; Bertini, Enrico Silvio; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Tartaglia, Marco; Gauthier, Lucas; Genevieve, David; Tharreau, Mylène; Azoulay, Noy; Zaks-Hoffer, Gal; Gilad, Nesia K.; Orenstein, Naama; Bernard, Geneviève; Thiffault, Isabelle; Denecke, Jonas; Herget, Theresia; Kortüm, Fanny; Kubisch, Christian; Bähring, Robert; Kindler, Stefan
    Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
    In: The American Journal of Human Genetics, Jg. 111, 2024, Nr. 6, S. 1206 – 1221
    DOI (Open Access)
  • Schmid, Cosima M.; Gregor, Anne; Ruiz, Anna; Manso Bazús, Carmen; Herman, Isabella; Ammouri, Farah; Kotzaeridou, Urania; McNiven, Vanda; Dupuis, Lucie; Steindl, Katharina; Begemann, Anaïs; Rauch, Anita; Suter, Aude-Annick; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Cogné, Benjamin; Deb, Wallid; Besnard, Thomas; Haack, Tobias B.; Falb, Ruth J.; Müller, Amelie J.; Linden, Tobias; Haldeman-Englert, Chad R.; Ockeloen, Charlotte W.; Mattioli, Francesca; Reymond, Alexandre; Ibrahim, Nazia; Naz, Shagufta; Lacaze, Elodie; Bassetti, Jennifer A.; Hoefele, Julia; Brunet, Theresa; Riedhammer, Korbinian M.; Elloumi, Houda Z.; Person, Richard; Zou, Fanggeng; Kahle, Juliette J.; Cremer, Kirsten; Schmidt, Axel; Delrue, Marie-Ange; Almeida, Pedro M.; Ramos, Fabiana; Srivastava, Siddharth; Quinlan, Aisling; Robertson, Stephen; Manka, Eva; Küchler, Alma; Spranger, Stephanie; Nowaczyk, Malgorzata J. M.; Elshafie, Reem M.; Alsharhan, Hind; Hillman, Paul R.; Dunnington, Leslie A.; Braakman, Hilde M. H.; McKee, Shane; Moresco, Angelica; Ignat, Andrea-Diana; Newbury-Ecob, Ruth; Banneau, Guillaume; Patat, Olivier; Kuerbitz, Jeffrey; Rzucidlo, Susan; Sell, Susan S.; Gordon, Patricia; Schuhmann, Sarah; Reis, André; Halleb, Yosra; Stoeva, Radka; Keren, Boris; Al Masseri, Zainab; Tümer, Zeynep; Hammer-Hansen, Sophia; Krüger Sølyst, Sofus; Steigerwald, Connolly G.; Abreu, Nicolas J.; Faust, Helene; Müller-Nedebock, Amica; Tran Mau-Them, Frédéric; Sticht, Heinrich; Zweier, Christiane
    Further delineation of the SCAF4-associated neurodevelopmental disorder
    In: European Journal of Human Genetics, Jg. 33, 2024, Nr. 5, S. 588 – 594
    DOI (Open Access)
  • Schmidt, Axel; Danyel, Magdalena; Grundmann, Kathrin; Brunet, Theresa; Klinkhammer, Hannah; Hsieh, Tzung-Chien; Engels, Hartmut; Peters, Sophia; Knaus, Alexej; Moosa, Shahida; Averdunk, Luisa; Boschann, Felix; Sczakiel, Henrike Lisa; Schwartzmann, Sarina; Mensah, Martin Atta; Pantel, Jean Tori; Holtgrewe, Manuel; Bösch, Annemarie; Weiß, Claudia; Weinhold, Natalie; Suter, Aude-Annick; Stoltenburg, Corinna; Neugebauer, Julia; Kallinich, Tillmann; Kaindl, Angela M.; Holzhauer, Susanne; Bührer, Christoph; Bufler, Philip; Kornak, Uwe; Ott, Claus-Eric; Schülke, Markus; Nguyen, Hoa Huu Phuc; Hoffjan, Sabine; Grasemann, Corinna; Rothoeft, Tobias; Brinkmann, Folke; Matar, Nora; Sivalingam, Sugirthan; Perne, Claudia; Mangold, Elisabeth; Kreiss, Martina; Cremer, Kirsten; Betz, Regina C.; Mücke, Martin; Grigull, Lorenz; Klockgether, Thomas; Spier, Isabel; Heimbach, André; Bender, Tim; Brand, Fabian; Stieber, Christiane; Morawiec, Alexandra Marzena; Karakostas, Pantelis; Schäfer, Valentin S.; Bernsen, Sarah; Weydt, Patrick; Castro-Gomez, Sergio; Aziz, Ahmad; Grobe-Einsler, Marcus; Kimmich, Okka; Kobeleva, Xenia; Önder, Demet; Lesmann, Hellen; Kumar, Sheetal; Tacik, Pawel; Basin, Meghna Ahuja; Incardona, Pietro; Lee-Kirsch, Min Ae; Berner, Reinhard; Schuetz, Catharina; Körholz, Julia; Kretschmer, Tanita; Di Donato, Nataliya; Schröck, Evelin; Heinen, André; Reuner, Ulrike; Hanßke, Amalia-Mihaela; Kaiser, Frank J.; Manka, Eva; Munteanu, Martin; Kuechler, Alma; Cordula, Kiewert; Hirtz, Raphael; Schlapakow, Elena; Schlein, Christian; Lisfeld, Jasmin; Kubisch, Christian; Herget, Theresia; Hempel, Maja; Weiler-Normann, Christina; Ullrich, Kurt; Schramm, Christoph; Rudolph, Cornelia; Rillig, Franziska; Groffmann, Maximilian; Muntau, Ania; Tibelius, Alexandra; Schwaibold, Eva M. C.; Schaaf, Christian P.; Zawada, Michal; Kaufmann, Lilian; Hinderhofer, Katrin; Okun, Pamela M.; Kotzaeridou, Urania; Hoffmann, Georg F.; Choukair, Daniela; Bettendorf, Markus; Spielmann, Malte; Ripke, Annekatrin; Pauly, Martje; Münchau, Alexander; Lohmann, Katja; Hüning, Irina; Hanker, Britta; Bäumer, Tobias; Herzog, Rebecca; Hellenbroich, Yorck; Westphal, Dominik S.; Strom, Tim; Kovacs, Reka; Riedhammer, Korbinian M.; Mayerhanser, Katharina; Graf, Elisabeth; Brugger, Melanie; Hoefele, Julia; Oexle, Konrad; Mirza-Schreiber, Nazanin; Berutti, Riccardo; Schatz, Ulrich; Krenn, Martin; Makowski, Christine; Weigand, Heike; Schröder, Sebastian; Rohlfs, Meino; Vill, Katharina; Hauck, Fabian; Borggraefe, Ingo; Müller-Felber, Wolfgang; Kurth, Ingo; Elbracht, Miriam; Knopp, Cordula; Begemann, Matthias; Kraft, Florian; Lemke, Johannes R.; Hentschel, Julia; Platzer, Konrad; Strehlow, Vincent; Abou Jamra, Rami; Kehrer, Martin; Demidov, German; Beck-Wödl, Stefanie; Graessner, Holm; Sturm, Marc; Zeltner, Lena; Schöls, Ludger J.; Magg, Janine; Bevot, Andrea; Kehrer, Christiane; Kaiser, Nadja; Turro, Ernest; Horn, Denise; Grüters-Kieslich, Annette; Klein, Christoph; Mundlos, Stefan; Nöthen, Markus; Riess, Olaf; Meitinger, Thomas; Krude, Heiko; Krawitz, Peter M.; Haack, Tobias; Ehmke, Nadja; Wagner, Matias
    Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
    In: Nature Genetics, Jg. 56, 2024, Nr. 8, S. 1644 – 1653
    DOI (Open Access)
  • de Fallois, Jonathan; Sieckmann, Tobias; Schönauer, Ria; Petzold, Friederike; Münch, Johannes; Pauly, Melissa; Vasileiou, Georgia; Findeisen, Christin; Kampmeier, Antje; Küchler, Alma; Reis, André; Decker, Eva; Bergmann, Carsten; Platzer, Konrad; Tasic, Velibor; Kirschner, Karin Michaela; Shril, Shirlee; Hildebrandt, Friedhelm; Chung, Wendy K.; Halbritter, Jan
    Pathogenic PHIP Variants are Variably Associated With CAKUT
    In: Kidney International Reports, Jg. 9, 2024, Nr. 8, S. 2484 – 2497
    DOI (Open Access)
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    Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
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    Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement
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    Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation : A clinical longitudinal study
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  • 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
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    One test for all : Whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome
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  • 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
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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
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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
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    De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas
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  • 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
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    Int22h1/Int22h2-mediated Xq28 duplication syndrome : de novo duplications, prenatal diagnoses, and additional phenotypic features
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    The adult phenotype of Schaaf-Yang syndrome
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    Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
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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
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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
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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
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    Primäres Meningeom des Nervus opticus im Säuglingsalter als Erstmanifestation einer Neurofibromatose Typ 2
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    Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
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    BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells
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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
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    Genetic Diagnostic Elucidation of a Patient With Multiorgan Granulomas, Facial Peculiarities, and Psychomotor Retardation
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    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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    Parental origin of deletions and duplications - About the necessity to check for cryptic inversions
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    The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant
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    Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3 : A recognizable condition
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    Cochlear Implantation in Siblings with Refsum's Disease
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    Delineating SPTAN1 associated phenotypes : From isolated epilepsy to encephalopathy with progressive brain atrophy
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    Early-Onser Epilepsy and Severe cognitive Impairment in six Patients with the de NOVO P.GLU590LYS Variantof CUX2
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    Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation
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    Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability
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    Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism
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    New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome
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    Tubulin-related cerebellar dysplasia : definition of a distinct pattern of cerebellar malformation
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    Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID
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    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
    DOI
  • 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
    DOI (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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI (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
    DOI
  • 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
    DOI, 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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: The American Journal of Human Genetics, Jg. 93, 2013, Nr. 5, S. 932 – 944
    DOI
  • 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
    DOI (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
    DOI
  • 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
    DOI
  • 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
    DOI (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
    DOI
  • 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
    DOI
  • 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
    DOI (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
    DOI
  • 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
    DOI
  • Küchler, Alma; Wieczorek, Dagmar
    Syndrome mit dem Leitsymptom Großwuchs
    In: Medizinische Genetik, Jg. 23, 2011, Nr. 4, S. 505 – 517
    DOI
  • 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
    DOI
  • 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
    DOI (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
    DOI (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
    DOI
  • 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
    DOI

    • Abstracts

  • Roos, Andreas; van der Ven, P.; Alrohaif, H.; Kölbel, Heike; Heil, L.; Della Marina, Adela; Weis, J.; Töpf, A.; Vorgerd, M.; Schara-Schmidt, Ulrike; Gangfuss, Andrea; Evangelista, T.; Hentschel, A.; Grüneboom, A.; Fuerst, D.; Küchler, Alma; Tzschach, A.; Depienne, Christel; Lochmüller, H.
    Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects
    28th International Congress of the World Muscle Society, 3-7 October 2023, Charleston, South Carolina, USA,
    In: Neuromuscular Disorders. Amsterdam; Oxford; Frankfurt, M. [u.a.]: Elsevier, Jg. 33, 2023, Nr. Supplement 1, S. S130
    DOI
  • Furlan, Margherita; Lesca, Gaetan; Carvill, Gemma Louise; Hammer, Trine Bjørg; Schneider, Amy; Aledo-Serrano, Ángel; Romano, Corrado; Landbo Børresen, Malene; Scheffer, Ingrid; Giorgi, Laetitia; Michaud, Vincent; Raclet, Virginie; Bracher, Linda; Aronsson, Johan; Maurey, Helene; Bouilleret, Viviane; Küchler, Alma; Parisi, Pasquale; Steensbjerre Moeller, Rikke; Gardella, Elena
    Expanding the phenotypic and genetic CUX2 spectrum
    34th International Epilepsy Congress, 28 August – 1 September 2021, Virtual,
    In: Epilepsia. Oxford: Wiley, Jg. 62, 2021, Nr. Suppl. 3, S. 217 – 218
    DOI (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. Basingstoke: Nature Publishing Group, Jg. 28, 2020, Nr. Supplement 1, S. 475 – 476
    DOI (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. Basingstoke: Nature Publishing Group, Jg. 28, 2020, Nr. Supplement 1, S. 353 – 354
    DOI (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. Basingstoke: Nature Publishing Group, Jg. 28, 2020, Nr. Supplement 1, S. 32 – 33
    DOI (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. Basingstoke: Nature Publishing Group, Jg. 28, 2020, Nr. Supplement 1, S. 360
    DOI (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. Basingstoke: Nature Publishing Group, Jg. 28, 2020, Nr. Supplement 1, S. 229 – 230
    DOI (Open Access)

    • Bücher/Sammelwerke/Tagungsbände

  • Küchler, Alma
    Klinische und molekulargenetische Charakterisierung seltener genetischer Syndrome
    Duisburg ; Essen, 2018

    • Poster / Posterbeiträge

  • Aukema, Sietse; Vandenput, Kim; Scarano, Emanuela; Kiewert, Cordula; Küchler, Alma; Parenti, Ilaria; Ockeloen, Charlotte; et al.
    Growth hormone treatment in children with KBG syndrome : novel insights, challenges and recommendations from 6 novel patients and literature review
    57th European Society of Human Genetics (ESHG) Conference, June 1-4, 2024, Berlin, Germany,
    In: European Journal of Human Genetics. Basingstoke: Nature Publishing Group, Jg. 32, 2024, Nr. Suppl. 2, S. 1794
    Online Volltext (Open Access)
  • Stock, Friedrich; Beygo, Jasmin; Parenti, Ilaria; Surowy, Harald; Schroeder, Christopher; Leitao, Elsa; Kampmeier, Antje; Depienne, Christel; Kaiser, Frank J.; Küchler, Alma
    Two recently identified unrelated cases of NEDAUS
    57th European Society of Human Genetics (ESHG) Conference, June 1-4, 2024, Berlin, Germany,
    In: European Journal of Human Genetics. Basingstoke: Nature Publishing Group, Jg. 32, 2024, Nr. Suppl. 2, S. 1070
    Online Volltext (Open Access)
  • 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
    54th European Society of Human Genetics (ESHG) Conference, August 28-31, 2021, Virtual,
    In: European Journal of Human Genetics. Basingstoke: Nature Publishing Group, Jg. 30, 2022, Nr. Suppl. 1, S. 355 – 356
    Online Volltext (Open Access)
  • 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
    54th European Society of Human Genetics (ESHG) Conference, 28–31 August 2021, Virtual,
    In: European Journal of Human Genetics. Basingstoke: Nature Publishing Group, Jg. 30, 2022, Nr. Suppl. 1, S. 252
    Online Volltext (Open Access)
  • 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
    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, Virtual,
    In: Neuromuscular Disorders. Amsterdam; Oxford; Frankfurt, M. [u.a.]: Elsevier, Jg. 31, 2021, Nr. Supplement 1: 26th International Congress of the World Muscle Society; 20th– 24th September 2021, S. S143
    DOI
  • Khuller, K.; Haack, T.; Finetti, C.; Kaiser, Frank 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. Basingstoke: Nature Publishing Group, Jg. 28, 2020, Nr. Supplement 1, S. 868 – 869
    DOI (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
    50th European Society of Human Genetics Conference, May 27–30, 2017, Copenhagen, Denmark,
    In: European Journal of Human Genetics. Basingstoke: Nature Publishing Group, Jg. 26, 2019, Nr. Suppl., S. 326
    DOI (Open Access)
  • 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
    50th European Society of Human Genetics Conference, May 27–30, 2017, Copenhagen, Denmark,
    In: European Journal of Human Genetics. Basingstoke: Nature Publishing Group, Jg. 26, 2019, Nr. Suppl., S. 380 – 381
    DOI (Open Access)