Ambry Genetics


Industry / private company

Location:
Aliso Viejo, CA, United States (USA)


Publications in cooperation with FAU scientists


Platzer, K., Sticht, H., Edwards, S.L., Allen, W., Angione, K.M., Bonati, M.T.,... Jamra, R. (2019). De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies. American Journal of Human Genetics, 104(2), 203-212. https://dx.doi.org/10.1016/j.ajhg.2018.12.008
Zweier, M., Begemann, A., Mcwalter, K., Cho, M.T., Abela, L., Banka, S.,... Rauch, A. (2019). Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. European journal of human genetics, 27(5), 747-759. https://dx.doi.org/10.1038/s41431-018-0331-z
Basilicata, M.F., Bruel, A.-L., Semplicio, G., Valsecchi, C.I.K., Aktas, T., Duffourd, Y.,... Akhtar, A. (2018). De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. Nature Genetics, 50(10), 1442-1451. https://dx.doi.org/10.1038/s41588-018-0220-y
Straub, J., Konrad, E., Grüner, J., Toutain, A., Bok, L.A., Cho, M.T.,... Zweier, C. (2018). Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. American Journal of Human Genetics, 102(1), 44-57. https://dx.doi.org/10.1016/j.ajhg.2017.11.008
Stankiewicz, P., Khan, T.N., Szafranski, P., Slattery, L., Streff, H., Vetrini, F.,... Yang, Y. (2017). Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. American Journal of Human Genetics, 101(4), 503-515. https://dx.doi.org/10.1016/j.ajhg.2017.08.014
Basel-Vanagaite, L., Yilmaz, R., Tang, S., Reuter, M., Rahner, N., Grange, D.K.,... Borck, G. (2014). Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. Human genetics, 133(7), 939-49. https://dx.doi.org/10.1007/s00439-014-1436-2

Last updated on 2017-17-01 at 12:42