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ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Teunissen MWA, Lewerissa E, van Hugte EJH, Wang S, Ockeloen CW, Koolen DA, Pfundt R, Marcelis CLM, Brilstra E, Howe JL, Scherer SW, Le Guillou X, Bilan F, Primiano M, Roohi J, Piton A, de Saint Martin A, Baer S, Seiffert S, Platzer K, Jamra RA, Syrbe S, Doering JH, Lakhani S, Nangia S, Gilissen C, Vermeulen RJ, Rouhl RPW, Brunner HG, Willemsen MH, Nadif Kasri N. Teunissen MWA, et al. Among authors: roohi j. Hum Mol Genet. 2023 Jul 4;32(14):2373-2385. doi: 10.1093/hmg/ddad081. Hum Mol Genet. 2023. PMID: 37195288 Free PMC article.
Impact of patient education videos on genetic counseling outcomes after exome sequencing.
Hernan R, Cho MT, Wilson AL, Ahimaz P, Au C, Berger SM, Guzman E, Primiano M, Shaw JE, Ross M, Tabanfar L, Chilton I, Griffin E, Ratner C, Anyane-Yeboa K, Iglesias A, Pisani L, Roohi J, Duong J, Martinez J, Appelbaum P, Klitzman R, Ottman R, Chung WK, Wynn J. Hernan R, et al. Among authors: roohi j. Patient Educ Couns. 2020 Jan;103(1):127-135. doi: 10.1016/j.pec.2019.08.018. Epub 2019 Aug 24. Patient Educ Couns. 2020. PMID: 31521424 Free PMC article. Clinical Trial.
Gigantism, acromegaly, and GPR101 mutations.
Roohi J. Roohi J. N Engl J Med. 2015 Mar 26;372(13):1264-5. doi: 10.1056/NEJMc1500340. N Engl J Med. 2015. PMID: 25806921 Free article. No abstract available.
17 results