GeneDX


Industry / private company

Location:
Gaithersburg, MD, 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
Blok, L.S., Rousseau, J., Twist, J., Ehresmann, S., Takaku, M., Venselaar, H.,... Campeau, P.M. (2018). CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications, 9(1). https://dx.doi.org/10.1038/s41467-018-06014-6
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
Vasileiou, G., Vergarajauregui, S., Endele, S., Popp, B., Büttner, C., Ekici, A.B.,... Reis, A. (2018). Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. American Journal of Human Genetics, 102(3), 468-479. https://dx.doi.org/10.1016/j.ajhg.2018.01.014
Lehalle, D., Mosca-Boidron, A.-L., Begtrup, A., Boute-Benejean, O., Charles, P., Cho, M.T.,... Faivre, L. (2017). STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. Journal of Medical Genetics, 54(7), 479-488. https://dx.doi.org/10.1136/jmedgenet-2016-104468

Last updated on 2017-03-11 at 10:49