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27 results
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Emerging RAS superfamily conditions involving GTPase function.
Shieh JTC. Shieh JTC. PLoS Genet. 2019 Feb 14;15(2):e1007870. doi: 10.1371/journal.pgen.1007870. eCollection 2019 Feb. PLoS Genet. 2019. PMID: 30763311 Free PMC article. No abstract available.
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
Jansen S, Geuer S, Pfundt R, Brough R, Ghongane P, Herkert JC, Marco EJ, Willemsen MH, Kleefstra T, Hannibal M, Shieh JT, Lynch SA, Flinter F, FitzPatrick DR, Gardham A, Bernhard B, Ragge N, Newbury-Ecob R, Bernier R, Kvarnung M, Magnusson EA, Wessels MW, van Slegtenhorst MA, Monaghan KG, de Vries P, Veltman JA; Deciphering Developmental Disorders Study, Lord CJ, Vissers LE, de Vries BB. Jansen S, et al. Am J Hum Genet. 2017 Apr 6;100(4):650-658. doi: 10.1016/j.ajhg.2017.02.005. Epub 2017 Mar 23. Am J Hum Genet. 2017. PMID: 28343630 Free PMC article.
Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.
Slavotinek A, Pua H, Hodoglugil U, Abadie J, Shieh J, Van Ziffle J, Kvale M, Lee H, Kwok PY, Risch N, Sabbadini M. Slavotinek A, et al. Eur J Med Genet. 2017 Oct;60(10):504-508. doi: 10.1016/j.ejmg.2017.07.003. Epub 2017 Jul 4. Eur J Med Genet. 2017. PMID: 28687524
Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation.
Ge X, Gong H, Dumas K, Litwin J, Phillips JJ, Waisfisz Q, Weiss MM, Hendriks Y, Stuurman KE, Nelson SF, Grody WW, Lee H, Kwok PY, Shieh JT. Ge X, et al. NPJ Genom Med. 2016;1:16036-. doi: 10.1038/npjgenmed.2016.36. Epub 2016 Oct 5. NPJ Genom Med. 2016. PMID: 28868155 Free PMC article.
Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions.
Zahed H, Sparks TN, Li B, Alsadah A, Shieh JTC. Zahed H, et al. Among authors: shieh jtc. J Pediatr. 2017 Oct;189:222-226.e1. doi: 10.1016/j.jpeds.2017.06.040. J Pediatr. 2017. PMID: 28947054 Free PMC article.
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
Slavotinek A, Risolino M, Losa M, Cho MT, Monaghan KG, Schneidman-Duhovny D, Parisotto S, Herkert JC, Stegmann APA, Miller K, Shur N, Chui J, Muller E, DeBrosse S, Szot JO, Chapman G, Pachter NS, Winlaw DS, Mendelsohn BA, Dalton J, Sarafoglou K, Karachunski PI, Lewis JM, Pedro H, Dunwoodie SL, Selleri L, Shieh J. Slavotinek A, et al. Hum Mol Genet. 2017 Dec 15;26(24):4849-4860. doi: 10.1093/hmg/ddx363. Hum Mol Genet. 2017. PMID: 29036646 Free PMC article.
Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome.
Shieh JT, Hudgins L, Cherry AM, Shen Z, Hoyme HE. Shieh JT, et al. Am J Med Genet A. 2006 Jan 15;140(2):170-3. doi: 10.1002/ajmg.a.31036. Am J Med Genet A. 2006. PMID: 16353235
Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.
Goldstein JH, Tim-Aroon T, Shieh J, Merrill M, Deeb KK, Zhang S, Bass NE, Bedoyan JK. Goldstein JH, et al. Eur J Med Genet. 2015 Oct;58(10):562-8. doi: 10.1016/j.ejmg.2015.09.007. Epub 2015 Sep 18. Eur J Med Genet. 2015. PMID: 26386245
Schimke immunoosseous dysplasia and management considerations for vascular risks.
Beleford DT, Diab M, Qubty WF, Malloy MJ, Long RK, Shieh JT. Beleford DT, et al. Am J Med Genet A. 2019 Jul;179(7):1246-1252. doi: 10.1002/ajmg.a.61148. Epub 2019 Apr 30. Am J Med Genet A. 2019. PMID: 31039288
Genetics workforce: distribution of genetics services and challenges to health care in California.
Penon-Portmann M, Chang J, Cheng M, Shieh JT. Penon-Portmann M, et al. Genet Med. 2020 Jan;22(1):227-231. doi: 10.1038/s41436-019-0628-5. Epub 2019 Aug 16. Genet Med. 2020. PMID: 31417191
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