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2003 6
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49 results

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Page 1
Autism genetics: opportunities and challenges for clinical translation.
Vorstman JAS, Parr JR, Moreno-De-Luca D, Anney RJL, Nurnberger JI Jr, Hallmayer JF. Vorstman JAS, et al. Among authors: hallmayer jf. Nat Rev Genet. 2017 Jun;18(6):362-376. doi: 10.1038/nrg.2017.4. Epub 2017 Mar 6. Nat Rev Genet. 2017. PMID: 28260791 Free article. Review.
Neuronal defects in a human cellular model of 22q11.2 deletion syndrome.
Khan TA, Revah O, Gordon A, Yoon SJ, Krawisz AK, Goold C, Sun Y, Kim CH, Tian Y, Li MY, Schaepe JM, Ikeda K, Amin ND, Sakai N, Yazawa M, Kushan L, Nishino S, Porteus MH, Rapoport JL, Bernstein JA, O'Hara R, Bearden CE, Hallmayer JF, Huguenard JR, Geschwind DH, Dolmetsch RE, Paşca SP. Khan TA, et al. Among authors: hallmayer jf. Nat Med. 2020 Dec;26(12):1888-1898. doi: 10.1038/s41591-020-1043-9. Epub 2020 Sep 28. Nat Med. 2020. PMID: 32989314 Free PMC article.
Detection and analysis of complex structural variation in human genomes across populations and in brains of donors with psychiatric disorders.
Zhou B, Arthur JG, Guo H, Kim T, Huang Y, Pattni R, Wang T, Kundu S, Luo JXJ, Lee H, Nachun DC, Purmann C, Monte EM, Weimer AK, Qu PP, Shi M, Jiang L, Yang X, Fullard JF, Bendl J, Girdhar K, Kim M, Chen X; PsychENCODE Consortium; Greenleaf WJ, Duncan L, Ji HP, Zhu X, Song G, Montgomery SB, Palejev D, Zu Dohna H, Roussos P, Kundaje A, Hallmayer JF, Snyder MP, Wong WH, Urban AE. Zhou B, et al. Among authors: hallmayer jf. Cell. 2024 Nov 14;187(23):6687-6706.e25. doi: 10.1016/j.cell.2024.09.014. Epub 2024 Sep 30. Cell. 2024. PMID: 39353437
Resolving the 22q11.2 deletion using CTLR-Seq reveals chromosomal rearrangement mechanisms and individual variance in breakpoints.
Zhou B, Purmann C, Guo H, Shin G, Huang Y, Pattni R, Meng Q, Greer SU, Roychowdhury T, Wood RN, Ho M, Dohna HZ, Abyzov A, Hallmayer JF, Wong WH, Ji HP, Urban AE. Zhou B, et al. Among authors: hallmayer jf. Proc Natl Acad Sci U S A. 2024 Jul 30;121(31):e2322834121. doi: 10.1073/pnas.2322834121. Epub 2024 Jul 23. Proc Natl Acad Sci U S A. 2024. PMID: 39042694 Free PMC article.
Cell-type specific global reprogramming of the transcriptome and epigenome in induced neurons with the 16p11.2 neuropsychiatric CNVs.
Ward TR, Qu PP, Leung LC, Zhou B, Muench KL, Khechaduri A, Plastini MJ, Charlton CA, Pattni R, Ho S, Ho M, Huang Y, Zhou P, Hallmayer JF, Mourrain P, Palmer TD, Zhang X, Urban AE. Ward TR, et al. Among authors: hallmayer jf. Eur J Hum Genet. 2025 May 15:10.1038/s41431-025-01856-3. doi: 10.1038/s41431-025-01856-3. Online ahead of print. Eur J Hum Genet. 2025. PMID: 40374944 Free PMC article.
49 results