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Ha, Thoa; Morgan, Angela; Bartos, Meghan N; Beatty, Katelyn; Cogné, Benjamin; Braun, Dominique; Gerber, Céline B; Gaspar, Harald; Kopps, Anna M; Rieubland, Claudine; Hurst, Anna C E; Amor, David J; Nizon, Mathilde; Pasquier, Laurent; Pfundt, Rolph; Reis, André; Siu, Victoria Mok; Tessarech, Marine; Thompson, Michelle L; Vincent, Marie; ... (2024). De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. American journal of medical genetics. Part A, 194(7), e63559. Wiley-Liss 10.1002/ajmg.a.63559
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
