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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; ... (2023). Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders. Genetics in medicine, 25(8), p. 100885. Springer Nature 10.1016/j.gim.2023.100885
Schmid, Cosima M; Gregor, Anne; Costain, Gregory; Morel, Chantal F; Massingham, Lauren; Schwab, Jennifer; Quélin, Chloé; Faoucher, Marie; Kaplan, Julie; Procopio, Rebecca; Saunders, Carol J; Cohen, Ana S A; Lemire, Gabrielle; Sacharow, Stephanie; O'Donnell-Luria, Anne; Segal, Ranit Jaron; Shamshoni, Jessica Kianmahd; Schweitzer, Daniela; Ebrahimi-Fakhari, Darius; Monaghan, Kristin; ... (2023). LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Genetics in medicine, 25(7), p. 100839. Springer Nature 10.1016/j.gim.2023.100839
Popp, Bernt; Bienvenu, Thierry; Giurgea, Irina; Metreau, Julia; Kraus, Cornelia; Reis, André; Fischer, Jan; Bralo, María Palomares; Castano, Jair Tenorio; Lapunzina, Pablo; Almoguera, Berta; Lopez-Grondona, Fermina; Sticht, Heinrich; Zweier, Christiane (2022). The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome. Clinical genetics, 102(6), pp. 517-523. Wiley 10.1111/cge.14206
Gerber, Céline B; Fliedner, Anna; Bartsch, Oliver; Berland, Siren; Dewenter, Malin; Haug, Marte; Hayes, Ian; Marin-Reina, Purificacion; Mark, Paul R; Martinez-Castellano, Francisco; Maystadt, Isabelle; Karadurmus, Deniz; Steindl, Katharina; Wiesener, Antje; Zweier, Markus; Sticht, Heinrich; Zweier, Christiane (2022). Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6. Clinical genetics, 102(3), pp. 182-190. Wiley 10.1111/cge.14173
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; Kuechler, Alma; Beygo, Jasmin; Stöbe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Garcia-Minaur, Sixto; Pacio-Miguez, Marta; ... (2022). De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Human molecular genetics, 31(3), pp. 440-454. Oxford University Press 10.1093/hmg/ddab265
Fliedner, Anna; Gregor, Anne; Ferrazzi, Fulvia; Ekici, Arif B.; Sticht, Heinrich; Zweier, Christiane (2020). Loss of PHF6 leads to aberrant development of human neuron-like cells. Scientific reports, 10(1), p. 19030. Springer Nature 10.1038/s41598-020-75999-2
Papuc, Sorina M; Abela, Lucia; Steindl, Katharina; Begemann, Anaïs; Simmons, Thomas L; Schmitt, Bernhard; Zweier, Markus; Oneda, Beatrice; Socher, Eileen; Crowther, Lisa M; Wohlrab, Gabriele; Gogoll, Laura; Poms, Martin; Seiler, Michelle; Papik, Michael; Baldinger, Rosa; Baumer, Alessandra; Asadollahi, Reza; Kroell-Seger, Judith; Schmid, Regula; ... (2019). The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study. European journal of human genetics, 27(3), pp. 408-421. Nature Publishing Group 10.1038/s41431-018-0299-8
Templin, Christian; Ghadri, Jelena-Rima; Rougier, Jean-Sébastien; Baumer, Alessandra; Kaplan, Vladimir; Albesa, Maxime; Sticht, Heinrich; Rauch, Anita; Puleo, Colleen; Hu, Dan; Barajas-Martinez, Héctor; Antzelevitch, Charles; Lüscher, Thomas F; Abriel, Hugues; Duru, Firat (2011). Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6). European Heart Journal, 32(9), pp. 1077-88. Oxford: Oxford University Press 10.1093/eurheartj/ehr076
