GeneDX

EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum (2021) Hüffmeier U, Kraus C, Reuter M, Uebe S, Abbott MA, Ahmed SA, Rawson KL, et al. Journal article NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain (2021) Liu S, Aldinger KA, Cheng CV, Kiyama T, Dave M, McNamara HK, Zhao W, et al. Journal article Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss (2021) Richard EM, Bakhtiari S, Marsh AP, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, et al. Journal article Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders (2021) Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, et al. Journal article Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1 (2021) Appelhof B, Wagner M, Hoefele J, Heinze A, Roser T, Koch-Hogrebe M, Roosendaal SD, et al. Journal article ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder (2021) Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, Riddett A, et al. Journal article Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities (2021) Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Baxová A, Bendová Š, Biamino E, et al. Journal article Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy (Genetics in Medicine, (2020), 10.1038/s41436-020-01020-w) (2021) Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, et al. Journal article, Erratum Updated insight into the mutational and phenotypic spectrum of MED13L-related intellectual disability (2020) Asadollahi R, Boonsawat P, Popp B, Torti E, Bader I, Vitobello A, Moutton S, et al. Conference contribution Expanding the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and functional proof of aberrant WRC-mediated actin dynamics (2020) Begemann A, Sticht H, Mcwalter K, Vitobello A, Faivre L, Alhaddad B, Banka S, et al. Conference contribution