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A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, Moufawad El Achkar C, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ; DDD Study; Donadieu J, Narayanan V, Ramsey KM; C4RCD Research Group; Nava C, Rivière JB, Vitobello A, Tran Mau-Them F, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C. Olson HE, et al. Among authors: yang e. Am J Hum Genet. 2018 May 3;102(5):995-1007. doi: 10.1016/j.ajhg.2018.03.005. Epub 2018 Apr 12. Am J Hum Genet. 2018. PMID: 29656858 Free PMC article.
Fetal Echoplanar Imaging: Promises and Challenges.
Afacan O, Estroff JA, Yang E, Barnewolt CE, Connolly SA, Parad RB, Mulkern RV, Warfield SK, Gholipour A. Afacan O, et al. Among authors: yang e. Top Magn Reson Imaging. 2019 Oct;28(5):245-254. doi: 10.1097/RMR.0000000000000219. Top Magn Reson Imaging. 2019. PMID: 31592991 Free PMC article. Review.
Association of Isolated Congenital Heart Disease with Fetal Brain Maturation.
Jaimes C, Rofeberg V, Stopp C, Ortinau CM, Gholipour A, Friedman KG, Tworetzky W, Estroff J, Newburger JW, Wypij D, Warfield SK, Yang E, Rollins CK. Jaimes C, et al. Among authors: yang e. AJNR Am J Neuroradiol. 2020 Aug;41(8):1525-1531. doi: 10.3174/ajnr.A6635. Epub 2020 Jul 9. AJNR Am J Neuroradiol. 2020. PMID: 32646947 Free PMC article.
Polymicrogyria is Associated With Pathogenic Variants in PTEN.
Shao DD, Achkar CM, Lai A, Srivastava S, Doan RN, Rodan LH, Chen AY; Brain Development Study Group; Poduri A, Yang E, Walsh CA. Shao DD, et al. Among authors: yang e. Ann Neurol. 2020 Dec;88(6):1153-1164. doi: 10.1002/ana.25904. Epub 2020 Oct 8. Ann Neurol. 2020. PMID: 32959437 Free PMC article.
Regional Brain Growth Trajectories in Fetuses with Congenital Heart Disease.
Rollins CK, Ortinau CM, Stopp C, Friedman KG, Tworetzky W, Gagoski B, Velasco-Annis C, Afacan O, Vasung L, Beaute JI, Rofeberg V, Estroff JA, Grant PE, Soul JS, Yang E, Wypij D, Gholipour A, Warfield SK, Newburger JW. Rollins CK, et al. Among authors: yang e. Ann Neurol. 2021 Jan;89(1):143-157. doi: 10.1002/ana.25940. Epub 2020 Nov 4. Ann Neurol. 2021. PMID: 33084086 Free PMC article.
3,918 results