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Sheppard, Sarah E; Bryant, Laura; Wickramasekara, Rochelle N; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Hulen, Jason; Watson, Cynthia J; Faundes, Victor; Duffourd, Yannis; Lee, Pearl; Simon, M Celeste; de la Cruz, Xavier; Padilla, Natália; Flores-Mendez, Marco; Akizu, Naiara; Smiler, Jacqueline; Pellegrino Da Silva, Renata; Li, Dong; March, Michael; ... (2023). Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science Advances, 9(10), eade1463. American Association for the Advancement of Science 10.1126/sciadv.ade1463
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
