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Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
Tsai MH, Muir AM, Wang WJ, Kang YN, Yang KC, Chao NH, Wu MF, Chang YC, Porter BE, Jansen LA, Sebire G, Deconinck N, Fan WL, Su SC, Chung WH, Almanza Fuerte EP, Mehaffey MG; University of Washington Center for Mendelian Genomics; Ng CC, Chan CK, Lim KS, Leventer RJ, Lockhart PJ, Riney K, Damiano JA, Hildebrand MS, Mirzaa GM, Dobyns WB, Berkovic SF, Scheffer IE, Tsai JW, Mefford HC. Tsai MH, et al. Among authors: wang wj. Neuron. 2020 Apr 22;106(2):237-245.e8. doi: 10.1016/j.neuron.2020.01.027. Epub 2020 Feb 24. Neuron. 2020. PMID: 32097630 Free PMC article.
Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations.
Tsai MH, Ke HC, Lin WC, Nian FS, Huang CW, Cheng HY, Hsu CS, Granata T, Chang CH, Castellotti B, Lin SY, Doniselli FM, Lu CJ, Franceschetti S, Ragona F, Hou PS, Canafoglia L, Tung CY, Lee MH, Wang WJ, Tsai JW. Tsai MH, et al. Among authors: wang wj. Acta Neuropathol. 2024 Jan 9;147(1):13. doi: 10.1007/s00401-023-02665-y. Acta Neuropathol. 2024. PMID: 38194050 Free PMC article.
Atoh1 Controls Primary Cilia Formation to Allow for SHH-Triggered Granule Neuron Progenitor Proliferation.
Chang CH, Zanini M, Shirvani H, Cheng JS, Yu H, Feng CH, Mercier AL, Hung SY, Forget A, Wang CH, Cigna SM, Lu IL, Chen WY, Leboucher S, Wang WJ, Ruat M, Spassky N, Tsai JW, Ayrault O. Chang CH, et al. Among authors: wang wj, wang ch. Dev Cell. 2019 Jan 28;48(2):184-199.e5. doi: 10.1016/j.devcel.2018.12.017. Dev Cell. 2019. PMID: 30695697 Free article.
2,035 results