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24,407 results

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Page 1
TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.
Duy PQ, Jux B, Zhao S, Mekbib KY, Dennis E, Dong W, Nelson-Williams C, Mehta NH, Shohfi JP, Juusola J, Allington G, Smith H, Marlin S, Belhous K, Monteleone B, Schaefer GB, Pisarska MD, Vásquez J, Estrada-Veras JI, Keren B, Mignot C, Flore LA, Palafoll IV, Alper SL, Lifton RP, Haider S, Moreno-De-Luca A, Jin SC, Kolanus W, Kahle KT. Duy PQ, et al. Among authors: zhao s. Brain. 2024 Jun 4:awae175. doi: 10.1093/brain/awae175. Online ahead of print. Brain. 2024. PMID: 38833623
DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya Disease.
Kundishora AJ, Peters ST, Pinard A, Duran D, Panchagnula S, Barak T, Miyagishima DF, Dong W, Smith H, Ocken J, Dunbar A, Nelson-Williams C, Haider S, Walker RL, Li B, Zhao H, Thumkeo D, Marlier A, Duy PQ, Diab NS, Reeves BC, Robert SM, Sujijantarat N, Stratman AN, Chen YH, Zhao S, Roszko I, Lu Q, Zhang B, Mane S, Castaldi C, López-Giráldez F, Knight JR, Bamshad MJ, Nickerson DA, Geschwind DH, Chen SL, Storm PB, Diluna ML, Matouk CC, Orbach DB, Alper SL, Smith ER, Lifton RP, Gunel M, Milewicz DM, Jin SC, Kahle KT. Kundishora AJ, et al. Among authors: zhao h, zhao s. JAMA Neurol. 2021 Aug 1;78(8):993-1003. doi: 10.1001/jamaneurol.2021.1681. JAMA Neurol. 2021. PMID: 34125151 Free PMC article.
Molecular Genetics and Complex Inheritance of Congenital Heart Disease.
Diab NS, Barish S, Dong W, Zhao S, Allington G, Yu X, Kahle KT, Brueckner M, Jin SC. Diab NS, et al. Among authors: zhao s. Genes (Basel). 2021 Jun 30;12(7):1020. doi: 10.3390/genes12071020. Genes (Basel). 2021. PMID: 34209044 Free PMC article. Review.
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts.
Kundishora AJ, Allington G, McGee S, Mekbib KY, Gainullin V, Timberlake AT, Nelson-Williams C, Kiziltug E, Smith H, Ocken J, Shohfi J, Allocco A, Duy PQ, Elsamadicy AA, Dong W, Zhao S, Wang YC, Qureshi HM, DiLuna ML, Mane S, Tikhonova IR, Fu PY, Castaldi C, López-Giráldez F, Knight JR, Furey CG, Carter BS, Haider S, Moreno-De-Luca A, Alper SL, Gunel M, Millan F, Lifton RP, Torene RI, Jin SC, Kahle KT. Kundishora AJ, et al. Among authors: zhao s. Nat Med. 2023 Mar;29(3):667-678. doi: 10.1038/s41591-023-02238-2. Epub 2023 Mar 6. Nat Med. 2023. PMID: 36879130
Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations.
Zhao S, Mekbib KY, van der Ent MA, Allington G, Prendergast A, Chau JE, Smith H, Shohfi J, Ocken J, Duran D, Furey CG, Le HT, Duy PQ, Reeves BC, Zhang J, Nelson-Williams C, Chen D, Li B, Nottoli T, Bai S, Rolle M, Zeng X, Dong W, Fu PY, Wang YC, Mane S, Piwowarczyk P, Fehnel KP, See AP, Iskandar BJ, Aagaard-Kienitz B, Kundishora AJ, DeSpenza T, Greenberg ABW, Kidanemariam SM, Hale AT, Johnston JM, Jackson EM, Storm PB, Lang SS, Butler WE, Carter BS, Chapman P, Stapleton CJ, Patel AB, Rodesch G, Smajda S, Berenstein A, Barak T, Erson-Omay EZ, Zhao H, Moreno-De-Luca A, Proctor MR, Smith ER, Orbach DB, Alper SL, Nicoli S, Boggon TJ, Lifton RP, Gunel M, King PD, Jin SC, Kahle KT. Zhao S, et al. Among authors: zhao h. bioRxiv [Preprint]. 2023 Mar 21:2023.03.18.532837. doi: 10.1101/2023.03.18.532837. bioRxiv. 2023. PMID: 36993588 Free PMC article. Preprint.
Human genetics and molecular genomics of Chiari malformation type 1.
Mekbib KY, Muñoz W, Allington G, McGee S, Mehta NH, Shofi JP, Fortes C, Le HT, Nelson-Williams C, Nanda P, Dennis E, Kundishora AJ, Khanna A, Smith H, Ocken J, Greenberg ABW, Wu R, Moreno-De-Luca A, DeSpenza T Jr, Zhao S, Marlier A, Jin SC, Alper SL, Butler WE, Kahle KT. Mekbib KY, et al. Among authors: zhao s. Trends Mol Med. 2023 Dec;29(12):1059-1075. doi: 10.1016/j.molmed.2023.08.013. Epub 2023 Oct 4. Trends Mol Med. 2023. PMID: 37802664 Review.
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.
Zhao S, Mekbib KY, van der Ent MA, Allington G, Prendergast A, Chau JE, Smith H, Shohfi J, Ocken J, Duran D, Furey CG, Hao LT, Duy PQ, Reeves BC, Zhang J, Nelson-Williams C, Chen D, Li B, Nottoli T, Bai S, Rolle M, Zeng X, Dong W, Fu PY, Wang YC, Mane S, Piwowarczyk P, Fehnel KP, See AP, Iskandar BJ, Aagaard-Kienitz B, Moyer QJ, Dennis E, Kiziltug E, Kundishora AJ, DeSpenza T Jr, Greenberg ABW, Kidanemariam SM, Hale AT, Johnston JM, Jackson EM, Storm PB, Lang SS, Butler WE, Carter BS, Chapman P, Stapleton CJ, Patel AB, Rodesch G, Smajda S, Berenstein A, Barak T, Erson-Omay EZ, Zhao H, Moreno-De-Luca A, Proctor MR, Smith ER, Orbach DB, Alper SL, Nicoli S, Boggon TJ, Lifton RP, Gunel M, King PD, Jin SC, Kahle KT. Zhao S, et al. Among authors: zhao h. Nat Commun. 2023 Nov 17;14(1):7452. doi: 10.1038/s41467-023-43062-z. Nat Commun. 2023. PMID: 37978175 Free PMC article.
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.
Singh AK, Allington G, Viviano S, McGee S, Kiziltug E, Ma S, Zhao S, Mekbib KY, Shohfi JP, Duy PQ, DeSpenza T Jr, Furey CG, Reeves BC, Smith H, Sousa AMM, Cherskov A, Allocco A, Nelson-Williams C, Haider S, Rizvi SRA, Alper SL, Sestan N, Shimelis H, Walsh LK, Lifton RP, Moreno-De-Luca A, Jin SC, Kruszka P, Deniz E, Kahle KT. Singh AK, et al. Among authors: zhao s. Brain. 2024 Apr 4;147(4):1553-1570. doi: 10.1093/brain/awad405. Brain. 2024. PMID: 38128548
Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics.
DeSpenza T Jr, Singh A, Allington G, Zhao S, Lee J, Kiziltug E, Prina ML, Desmet N, Dang HQ, Fields J, Nelson-Williams C, Zhang J, Mekbib KY, Dennis E, Mehta NH, Duy PQ, Shimelis H, Walsh LK, Marlier A, Deniz E, Lake EMR, Constable RT, Hoffman EJ, Lifton RP, Gulledge A, Fiering S, Moreno-De-Luca A, Haider S, Alper SL, Jin SC, Kahle KT, Luikart BW. DeSpenza T Jr, et al. Among authors: zhao s. Proc Natl Acad Sci U S A. 2024 Jul 2;121(27):e2314702121. doi: 10.1073/pnas.2314702121. Epub 2024 Jun 25. Proc Natl Acad Sci U S A. 2024. PMID: 38916997
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