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Rinaldi, Berardo; Bayat, Allan; Zachariassen, Linda G; Sun, Jia-Hui; Ge, Yu-Han; Zhao, Dan; Bonde, Kristine; Madsen, Laura H; Awad, Ilham Abdimunim Ali; Bagiran, Duygu; Sbeih, Amal; Shah, Syeda Maidah; El-Sayed, Shaymaa; Lyngby, Signe M; Pedersen, Miriam G; Stenum-Berg, Charlotte; Walker, Louise Claudia; Krey, Ilona; Delahaye-Duriez, Andrée; Emrick, Lisa T; ... (2024). Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. Brain : a journal of neurology, 147(5), pp. 1837-1855. Oxford University Press 10.1093/brain/awad403
Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; ... (2023). CERT1 mutations perturb human development by disrupting sphingolipid homeostasis. The journal of clinical investigation, 133(10) American Society for Clinical Investigation 10.1172/JCI165019
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
Hetzelt, Katalin L M L; Winterholler, Martin; Kerling, Frank; Rauch, Christophe; Ekici, Arif B; Winterpacht, Andreas; Vasileiou, Georgia; Uebe, Steffen; Thiel, Christian T; Kraus, Cornelia; Reis, André; Zweier, Christiane (2022). Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome). American journal of medical genetics. Part A, 188(1), pp. 292-297. Wiley 10.1002/ajmg.a.62496
Bayat, Allan; Iqbal, Sumaiya; Borredy, Kim; Amiel, Jeanne; Zweier, Christiane Gertrud; Barcia, Guilia; Kraus, Cornelia; Weyhreter, Heike; Bassuk, Alexander G; Chopra, Maya; Rubboli, Guido; Møller, Rikke S (2021). PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders. European journal of human genetics, 29(8), pp. 1235-1244. Springer Nature 10.1038/s41431-021-00912-y
Mannucci, Ilaria; Dang, Nghi D P; Huber, Hannes; Murry, Jaclyn B; Abramson, Jeff; Althoff, Thorsten; Banka, Siddharth; Baynam, Gareth; Bearden, David; Beleza-Meireles, Ana; Benke, Paul J; Berland, Siren; Bierhals, Tatjana; Bilan, Frederic; Bindoff, Laurence A; Braathen, Geir Julius; Busk, Øyvind L; Chenbhanich, Jirat; Denecke, Jonas; Escobar, Luis F; ... (2021). Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome medicine, 13(1), p. 90. BioMed Central 10.1186/s13073-021-00900-3
Hüffmeier, Ulrike; Kraus, Cornelia; Reuter, Miriam S; Uebe, Steffen; Abbott, Mary-Alice; Ahmed, Syed A; Rawson, Kristyn L; Barr, Eileen; Li, Hong; Bruel, Ange-Line; Faivre, Laurence; Tran Mau-Them, Frédéric; Botti, Christina; Brooks, Susan; Burns, Kaitlyn; Ward, D Isum; Dutra-Clarke, Marina; Martinez-Agosto, Julian A; Lee, Hane; Nelson, Stanley F; ... (2021). EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum. Orphanet journal of rare diseases, 16(1), p. 136. BioMed Central 10.1186/s13023-021-01744-1
Hetzelt, Katalin L.M.L.; Kerling, Frank; Kraus, Cornelia; Rauch, Christophe; Thiel, Christian T.; Winterholler, Martin; Reis, André; Zweier, Christiane (2021). Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder. European journal of medical genetics, 64(1), p. 104123. Elsevier 10.1016/j.ejmg.2020.104123
Kraus, Cornelia; Rau, Tilman; Lux, Philipp; Erlenbach-Wünsch, Katharina; Löhr, Sabine; Krumbiegel, Mandy; Thiel, Christian T; Stöhr, Robert; Agaimy, Abbas; Croner, Roland S; Stürzl, Michael; Hohenberger, Werner; Hartmann, Arndt; Reis, André (2015). Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations. International journal of cancer, 136(6), E559-E568. Wiley-Blackwell 10.1002/ijc.29149
