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Centering Equity in Human Genetics and Genomics Advances.
Wagner JK, Yu JH, Chong JX, Royal CD, Bamshad MJ. Wagner JK, et al. Among authors: chong jx. HGG Adv. 2021 Aug 19;2(4):100048. doi: 10.1016/j.xhgg.2021.100048. eCollection 2021 Oct 14. HGG Adv. 2021. PMID: 35047840 Free PMC article. No abstract available.
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
Tabor HK, Auer PL, Jamal SM, Chong JX, Yu JH, Gordon AS, Graubert TA, O'Donnell CJ, Rich SS, Nickerson DA; NHLBI Exome Sequencing Project; Bamshad MJ. Tabor HK, et al. Among authors: chong jx. Am J Hum Genet. 2014 Aug 7;95(2):183-93. doi: 10.1016/j.ajhg.2014.07.006. Epub 2014 Jul 31. Am J Hum Genet. 2014. PMID: 25087612 Free PMC article.
Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis.
Emond MJ, Louie T, Emerson J, Chong JX, Mathias RA, Knowles MR, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC; NHLBI GO Exome Sequencing Project; Go L, Gibson RL, Bamshad MJ. Emond MJ, et al. Among authors: chong jx. PLoS Genet. 2015 Jun 5;11(6):e1005273. doi: 10.1371/journal.pgen.1005273. eCollection 2015 Jun. PLoS Genet. 2015. PMID: 26047157 Free PMC article.
Correction: Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis.
Emond MJ, Louie T, Emerson J, Chong JX, Mathias RA, Knowles MR, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC; NHLBI GO Exome Sequencing Project; Go L, Gibson RL, Bamshad MJ. Emond MJ, et al. Among authors: chong jx. PLoS Genet. 2015 Aug 18;11(8):e1005424. doi: 10.1371/journal.pgen.1005424. eCollection 2015 Aug. PLoS Genet. 2015. PMID: 26284524 Free PMC article. No abstract available.
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.
Maselli RA, Arredondo J, Vázquez J, Chong JX; University of Washington Center for Mendelian Genomics; Bamshad MJ, Nickerson DA, Lara M, Ng F, Lo VL, Pytel P, McDonald CM. Maselli RA, et al. Among authors: chong jx. Am J Med Genet A. 2017 Aug;173(8):2240-2245. doi: 10.1002/ajmg.a.38291. Epub 2017 May 25. Am J Med Genet A. 2017. PMID: 28544784 Free PMC article.
Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.
Said E, Chong JX, Hempel M, Denecke J, Soler P, Strom T, Nickerson DA, Kubisch C; University of Washington Center for Mendelian Genomics; Bamshad MJ, Lessel D. Said E, et al. Among authors: chong jx. Am J Med Genet A. 2017 Nov;173(11):3098-3103. doi: 10.1002/ajmg.a.38406. Epub 2017 Sep 8. Am J Med Genet A. 2017. PMID: 28884921 Free PMC article.
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.
Mori T, Yousefzadeh MJ, Faridounnia M, Chong JX, Hisama FM, Hudgins L, Mercado G, Wade EA, Barghouthy AS, Lee L, Martin GM, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics; Niedernhofer LJ, Oshima J. Mori T, et al. Among authors: chong jx. Hum Mutat. 2018 Feb;39(2):255-265. doi: 10.1002/humu.23367. Epub 2017 Nov 17. Hum Mutat. 2018. PMID: 29105242 Free PMC article.
Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1.
Mackelprang RD, Bamshad MJ, Chong JX, Hou X, Buckingham KJ, Shively K, deBruyn G, Mugo NR, Mullins JI, McElrath MJ, Baeten JM, Celum C, Emond MJ, Lingappa JR; Partners in Prevention HSV/HIV Transmission Study and the Partners PrEP Study Teams. Mackelprang RD, et al. Among authors: chong jx. PLoS Pathog. 2017 Nov 6;13(11):e1006703. doi: 10.1371/journal.ppat.1006703. eCollection 2017 Nov. PLoS Pathog. 2017. PMID: 29108000 Free PMC article.
92 results