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Items: 1 to 20 of 457


Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies.

Hu H, Wang L, Wu J, Zhou P, Fu J, Sun J, Cai W, Liu H, Yang Y.

Hum Genomics. 2019 Mar 12;13(1):14. doi: 10.1186/s40246-019-0198-2.


vi-HMM: a novel HMM-based method for sequence variant identification in short-read data.

Tang M, Hasan MS, Zhu H, Zhang L, Wu X.

Hum Genomics. 2019 Feb 13;13(1):9. doi: 10.1186/s40246-019-0194-6.


Association of HTRA1 and ARMS2 gene polymorphisms with response to intravitreal ranibizumab among neovascular age-related macular degenerative subjects.

Mohamad NA, Ramachandran V, Mohd Isa H, Chan YM, Ngah NF, Ching SM, Hoo FK, Wan Sulaiman WA, Inche Mat LN, Mohamed MH.

Hum Genomics. 2019 Feb 22;13(1):13. doi: 10.1186/s40246-019-0197-3.


Association of genetic ancestry with colorectal tumor location in Puerto Rican Latinos.

Pérez-Mayoral J, Soto-Salgado M, Shah E, Kittles R, Stern MC, Olivera MI, Gonzalez-Pons M, Rodriguez-Quilichinni S, Torres M, Reyes JS, Tous L, López N, Chevere VC, Cruz-Correa M.

Hum Genomics. 2019 Feb 20;13(1):12. doi: 10.1186/s40246-019-0196-4.


Update on the human and mouse lipocalin (LCN) gene family, including evidence the mouse Mup cluster is result of an "evolutionary bloom".

Charkoftaki G, Wang Y, McAndrews M, Bruford EA, Thompson DC, Vasiliou V, Nebert DW.

Hum Genomics. 2019 Feb 19;13(1):11. doi: 10.1186/s40246-019-0191-9. Review.


Considerations for the use of Cre recombinase for conditional gene deletion in the mouse lens.

Lam PT, Padula SL, Hoang TV, Poth JE, Liu L, Liang C, LeFever AS, Wallace LM, Ashery-Padan R, Riggs PK, Shields JE, Shaham O, Rowan S, Brown NL, Glaser T, Robinson ML.

Hum Genomics. 2019 Feb 15;13(1):10. doi: 10.1186/s40246-019-0192-8.


Toward a clinical diagnostic pipeline for SPINK1 intronic variants.

Tang XY, Lin JH, Zou WB, Masson E, Boulling A, Deng SJ, Cooper DN, Liao Z, Férec C, Li ZS, Chen JM.

Hum Genomics. 2019 Feb 12;13(1):8. doi: 10.1186/s40246-019-0193-7.


The evolutionary genetics of lactase persistence in seven ethnic groups across the Iranian plateau.

Charati H, Peng MS, Chen W, Yang XY, Jabbari Ori R, Aghajanpour-Mir M, Esmailizadeh A, Zhang YP.

Hum Genomics. 2019 Feb 11;13(1):7. doi: 10.1186/s40246-019-0195-5.


A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts.

Guyatt AL, Brennan RR, Burrows K, Guthrie PAI, Ascione R, Ring SM, Gaunt TR, Pyle A, Cordell HJ, Lawlor DA, Chinnery PF, Hudson G, Rodriguez S.

Hum Genomics. 2019 Jan 31;13(1):6. doi: 10.1186/s40246-018-0190-2.


The association of functional polymorphisms in genes expressed in endothelial cells and smooth muscle cells with the myocardial infarction.

Li Y, Wang S, Zhang D, Xu X, Yu B, Zhang Y.

Hum Genomics. 2019 Jan 24;13(1):5. doi: 10.1186/s40246-018-0189-8.


Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.

Fernández-Lopez JC, Romero-Córdoba S, Rebollar-Vega R, Alfaro-Ruiz LA, Jiménez-Morales S, Beltrán-Anaya F, Arellano-Llamas R, Cedro-Tanda A, Rios-Romero M, Ramirez-Florencio M, Bautista-Piña V, Dominguez-Reyes C, Villegas-Carlos F, Tenorio-Torres A, Hidalgo-Miranda A.

Hum Genomics. 2019 Jan 10;13(1):3. doi: 10.1186/s40246-018-0188-9.


Germline TP53 and MSH6 mutations implicated in sporadic triple-negative breast cancer (TNBC): a preliminary study.

Yi D, Xu L, Luo J, You X, Huang T, Zi Y, Li X, Wang R, Zhong Z, Tang X, Li A, Shi Y, Rao J, Zhang Y, Sang J.

Hum Genomics. 2019 Jan 10;13(1):4. doi: 10.1186/s40246-018-0186-y.


The X chromosome and sex-specific effects in infectious disease susceptibility.

Schurz H, Salie M, Tromp G, Hoal EG, Kinnear CJ, Möller M.

Hum Genomics. 2019 Jan 8;13(1):2. doi: 10.1186/s40246-018-0185-z. Review.


Preimplantation genetic diagnosis and screening (PGD/S) using a semiconductor sequencing platform.

Wang LY, Rao XQ, Luo YQ, Liu B, Peng CF, Chen D, Yan K, Qian YQ, Yang YM, Huang YZ, Chen M, Sun YX, Li HG, Ye YH, Jin F, Liu HL, Dong MY.

Hum Genomics. 2019 Jan 3;13(1):1. doi: 10.1186/s40246-018-0187-x.


Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance.

Langerud J, Jarhelle E, Van Ghelue M, Ariansen SL, Iversen N.

Hum Genomics. 2018 Nov 20;12(1):51. doi: 10.1186/s40246-018-0183-1.


Perceptions of students in health and molecular life sciences regarding pharmacogenomics and personalized medicine.

Mahmutovic L, Akcesme B, Durakovic C, Akcesme FB, Maric A, Adilovic M, Hamad N, Wjst M, Feeney O, Semiz S.

Hum Genomics. 2018 Nov 14;12(1):50. doi: 10.1186/s40246-018-0182-2.


Bayesian variable selection for parametric survival model with applications to cancer omics data.

Duan W, Zhang R, Zhao Y, Shen S, Wei Y, Chen F, Christiani DC.

Hum Genomics. 2018 Nov 6;12(1):49. doi: 10.1186/s40246-018-0179-x.


Link between short tandem repeats and translation initiation site selection.

Arabfard M, Kavousi K, Delbari A, Ohadi M.

Hum Genomics. 2018 Oct 29;12(1):47. doi: 10.1186/s40246-018-0181-3.

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