Ambry Genetics

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features (2024) Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, et al. Journal article De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability (2021) Schalk A, Cousin MA, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, et al. Journal article Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures (2019) Zweier M, Begemann A, Mcwalter K, Cho MT, Abela L, Banka S, Behring B, et al. Conference contribution De novo variants in MAPK8IP3 cause intellectual disability with variable brain anomalies (2019) Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, et al. Conference contribution De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila (2019) Straub J, Konrad E, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, et al. Conference contribution Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures (2019) Zweier M, Begemann A, Mcwalter K, Cho MT, Abela L, Banka S, Behring B, et al. Journal article De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies (2019) Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, et al. Journal article De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder (2019) Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, et al. Journal article Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing (2018) Shimelis H, Laduca H, Hu C, Hart SN, Na J, Thomas A, Akinhanmi M, et al. Journal article De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation (2018) Basilicata MF, Bruel AL, Semplicio G, Valsecchi CIK, Aktas T, Duffourd Y, Rumpf T, et al. Journal article