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Christen, Matthias; Gregor, Anne; Gutierrez-Quintana, Rodrigo; Bongers, Jos; Rupp, Angie; Penderis, Jacques; Shelton, G Diane; Jagannathan, Vidhya; Zweier, Christiane; Leeb, Tosso (2024). NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model. Scientific Reports, 14(2975) Nature Publishing Group 10.1038/s41598-024-53314-7
Beaman, M Makenzie; Guidugli, Lucia; Hammer, Monia; Barrows, Chelsea; Gregor, Anne; Lee, Sangmoon; Deak, Kristen L; McDonald, Marie T; Jensen, Courtney; Zaki, Maha S; Masri, Amira T; Hobbs, Charlotte A; Gleeson, Joseph G; Cohen, Jennifer L (2023). Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome. American journal of medical genetics. Part A, 191(11), pp. 2757-2767. Wiley 10.1002/ajmg.a.63363
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
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
