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Page 1
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.
Pescosolido MF, Stein DM, Schmidt M, El Achkar CM, Sabbagh M, Rogg JM, Tantravahi U, McLean RL, Liu JS, Poduri A, Morrow EM. Pescosolido MF, et al. Among authors: liu js. Ann Neurol. 2014 Oct;76(4):581-93. doi: 10.1002/ana.24225. Epub 2014 Sep 19. Ann Neurol. 2014. PMID: 25044251 Free PMC article.
Complex Neurological Phenotype in Female Carriers of NHE6 Mutations.
Pescosolido MF, Kavanaugh BC, Pochet N, Schmidt M, Jerskey BA, Rogg JM, De Jager PL, Young-Pearse TL, Liu JS, Morrow EM. Pescosolido MF, et al. Among authors: liu js. Mol Neuropsychiatry. 2019 Apr;5(2):98-108. doi: 10.1159/000496341. Epub 2019 Mar 6. Mol Neuropsychiatry. 2019. PMID: 31192222 Free PMC article.
GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates.
Ouyang Q, Kavanaugh BC, Joesch-Cohen L, Dubois B, Wu Q, Schmidt M, Baytas O, Pastore SF, Harripaul R, Mishra S, Hussain A, Kim KH, Holler-Managan YF, Ayub M, Mir A, Vincent JB, Liu JS, Morrow EM. Ouyang Q, et al. Among authors: liu js. Hum Genet. 2019 Oct;138(10):1183-1200. doi: 10.1007/s00439-019-02057-x. Epub 2019 Aug 30. Hum Genet. 2019. PMID: 31471722 Free PMC article.
Sleep Abnormalities in SLC13A5 Citrate Transporter Disorder.
Adams RM, Ozlu C, Bailey LE, Solidum RM, Cooper S, Best CR, Elacio J, Kavanaugh BC, Brown TL, Nye K, Liu J, Porter BE, Goodspeed K, Bailey RM. Adams RM, et al. Genes (Basel). 2024 Oct 18;15(10):1338. doi: 10.3390/genes15101338. Genes (Basel). 2024. PMID: 39457462 Free PMC article.
Counteracting epigenetic mechanisms regulate the structural development of neuronal circuitry in human neurons.
Cheon S, Culver AM, Bagnell AM, Ritchie FD, Vacharasin JM, McCord MM, Papendorp CM, Chukwurah E, Smith AJ, Cowen MH, Moreland TA, Ghate PS, Davis SW, Liu JS, Lizarraga SB. Cheon S, et al. Among authors: liu js. Mol Psychiatry. 2022 Apr;27(4):2291-2303. doi: 10.1038/s41380-022-01474-1. Epub 2022 Feb 24. Mol Psychiatry. 2022. PMID: 35210569 Free PMC article.
SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy.
Goodspeed K, Liu JS, Nye KL, Prasad S, Sadhu C, Tavakkoli F, Bilder DA, Minassian BA, Bailey RM. Goodspeed K, et al. Among authors: liu js. Genes (Basel). 2022 Sep 15;13(9):1655. doi: 10.3390/genes13091655. Genes (Basel). 2022. PMID: 36140822 Free PMC article. Review.
1,264 results