Volume 14; Issue 1

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Human Genomics
Volume 14; Issue 1

Human Genomics

Volume 14; Issue 1

1

Investigating diagnostic sequencing techniques for CADASIL diagnosis

Dunn, P. J., Maksemous, N., Smith, R. A., Sutherland, H. G., Haupt, L. M., Griffiths, L. R.

Journal:

Year:

2020

Language:

english

File:

PDF, 757 KB

english, 2020

2

Re-analysis of whole blastocysts after trophectoderm biopsy indicated chromosome aneuploidy

Ou, Zhanhui, Chen, Zhiheng, Yin, Minna, Deng, Yu, Liang, Yunhao, Wang, Wenjun, Yao, Yuanqing, Sun, Ling

Journal:

Year:

2020

Language:

english

File:

PDF, 712 KB

english, 2020

3

Delineating significant genome-wide associations of variants with antipsychotic and antidepressant treatment response: implications for clinical pharmacogenomics

Koromina, Maria, Koutsilieri, Stefania, Patrinos, George P.

Journal:

Year:

2020

Language:

english

File:

PDF, 756 KB

english, 2020

4

Identification and characterization of methylation-mediated transcriptional dysregulation dictate methylation roles in preeclampsia

Zhao, Shuyu, Lv, Nan, Li, Yan, Liu, Tianyi, Sun, Yuhong, Chu, Xiaodan

Journal:

Year:

2020

Language:

english

File:

PDF, 3.07 MB

english, 2020

5

TRPM3_miR-204:Â a complex locus for eye development and disease

Journal:

Year:

2020

Language:

english

File:

PDF, 2.43 MB

english, 2020

6

Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase

Luczkowska, Karolina, Stekelenburg, Caroline, Sloan-BÃ©na, FrÃ©dÃ©rique, Ranza, Emmanuelle, Gastaldi, Giacomo, Schwitzgebel, ValÃ©rie, Maechler, Pierre

Journal:

Year:

2020

File:

PDF, 1.35 MB

2020

7

Metabolomic profiling of metoprolol hypertension treatment reveals altered gut microbiota-derived urinary metabolites

Brocker, Chad N., Velenosi, Thomas, Flaten, Hania K., McWilliams, Glenn, McDaniel, Kyle, Shelton, Shelby K., Saben, Jessica, Krausz, Kristopher W., Gonzalez, Frank J., Monte, Andrew A.

Journal:

Year:

2020

File:

PDF, 970 KB

2020

8

Do epigenetic changes caused by commensal microbiota contribute to development of ocular disease? A review of evidence

Nayyar, Ashima, Gindina, Sofya, Barron, Arturo, Hu, Yan, Danias, John

Journal:

Year:

2020

Language:

english

File:

PDF, 1.35 MB

english, 2020

9

Is the number of DNA repair genes associated with evolution rate and size of genomes?

Journal:

Year:

2020

Language:

english

File:

PDF, 431 KB

english, 2020

10

Reply to âIs the number of DNA repair genes associated with evolution rate and size of genomes?â

Voskarides, Konstantinos

Journal:

Year:

2020

Language:

english

File:

PDF, 448 KB

english, 2020

11

Hydroxymethylation and tumors: can 5-hydroxymethylation be used as a marker for tumor diagnosis and treatment?

Xu, Tianmin, Gao, Haoyue

Journal:

Year:

2020

File:

PDF, 1.10 MB

2020

12

Identification of rare and common variants in BNIP3L: a schizophrenia susceptibility gene

Zhou, Juan, Ma, Chuanchuan, Wang, Ke, Li, Xiuli, Jian, Xuemin, Zhang, Han, Yuan, Jianmin, Yin, Jiajun, Chen, Jianhua, Shi, Yongyong

Journal:

Year:

2020

File:

PDF, 1.62 MB

2020

13

An investigation of genetic polymorphisms in heparan sulfate proteoglycan core proteins and key modification enzymes in an Australian Caucasian multiple sclerosis population

Okolicsanyi, Rachel K., Bluhm, Julia, Miller, Cassandra, Griffiths, Lyn R., Haupt, Larisa M.

Journal:

Year:

2020

File:

PDF, 656 KB

2020

14

COVID-19 vulnerability: the potential impact of genetic susceptibility and airborne transmission

Godri Pollitt, Krystal J., Peccia, Jordan, Ko, Albert I., Kaminski, Naftali, Dela Cruz, Charles S., Nebert, Daniel W., Reichardt, Juergen K.V., Thompson, David C., Vasiliou, Vasilis

Journal:

Year:

2020

File:

PDF, 543 KB

2020

15

Gene X environment: the cellular environment governs the transcriptional response to environmental chemicals

Burman, Andreanna, Garcia-Milian, Rolando, Whirledge, Shannon

Journal:

Year:

2020

File:

PDF, 2.85 MB

2020

16

COVID-19 preclinical models: human angiotensin-converting enzyme 2 transgenic mice

Lutz, Cathleen, Maher, Leigh, Lee, Charles, Kang, Wonyoung

Journal:

Year:

2020

File:

PDF, 1.11 MB

2020

17

Clinical performance of non-invasive prenatal served as a first-tier screening test for trisomy 21, 18, 13 and sex chromosome aneuploidy in a pilot city in China

Liu, Yanhui, Liu, Hailiang, He, Yi, Xu, Wanfang, Ma, Qiulin, He, Yuzhen, Lei, Wei, Chen, Guoquan, He, Zheng, Huang, Jiayi, Liu, Jianan, Liu, Yuanru, Huang, Quanfei, Yu, Fubing

Journal:

Year:

2020

File:

PDF, 595 KB

2020

18

A potential prognostic prediction model of colon adenocarcinoma with recurrence based on prognostic lncRNA signatures

Jin, Lipeng, Li, Chenyao, Liu, Tao, Wang, Lei

Journal:

Year:

2020

File:

PDF, 3.97 MB

2020

19

Whole-genome sequencing of Chinese centenarians reveals important genetic variants in aging WGS of centenarian for genetic analysis of aging

Shen, Shuhua, Li, Chao, Xiao, Luwei, Wang, Xiaoming, Lv, Hang, Shi, Yuan, Li, Yixue, Huang, Qi

Journal:

Year:

2020

File:

PDF, 1.32 MB

2020

20

Genomics of COVID-19: molecular mechanisms going from susceptibility to severity of the disease

Mehrian-Shai, Ruty, Novelli, Giuseppe, Vasiliou, Vasilis, Watt, Jessica, Reichardt, Juergen K. V.

Journal:

Year:

2020

File:

PDF, 194 KB

2020

21

Application of CRISPR/Cas9 to human-induced pluripotent stem cells: from gene editing to drug discovery

De Masi, Claudia, Spitalieri, Paola, Murdocca, Michela, Novelli, Giuseppe, Sangiuolo, Federica

Journal:

Year:

2020

File:

PDF, 810 KB

2020

22

Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings

Wang, Xiang, Zhang, Zhu, Zhang, Xueguang, Shen, Ying, Liu, Hongqian

Journal:

Year:

2020

File:

PDF, 1.41 MB

2020

23

Human genetics and genomics meetings going virtual: practical lessons learned from two international meetings in early 2020

Forrest, Alistair R. R., Repetto, Gabriela M., Reichardt, Juergen K. V.

Journal:

Year:

2020

File:

PDF, 1.49 MB

2020

24

Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population

Tsang, Mandy H.Y., Kwong, Anna K.Y., Chan, Kate L.S., Fung, Jasmine L.F., Yu, Mullin H.C., Mak, Christopher C.Y., Yeung, Kit-San, Rodenburg, Richard J.T., Smeitink, Jan A.M., Chan, Rachel, Tsoi, Thoma

Journal:

Year:

2020

File:

PDF, 629 KB

2020

25

Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients

Novelli, Antonio, Biancolella, Michela, Borgiani, Paola, Cocciadiferro, Dario, Colona, Vito Luigi, DâApice, Maria Rosaria, Rogliani, Paola, Zaffina, Salvatore, Leonardis, Francesca, Campana, Andrea,

Journal:

Year:

2020

File:

PDF, 535 KB

2020

26

Genetic variants of the human host influencing the coronavirus-associated phenotypes (SARS, MERS and COVID-19): rapid systematic review and field synopsis

Di Maria, Emilio, Latini, Andrea, Borgiani, Paola, Novelli, Giuseppe

Journal:

Year:

2020

File:

PDF, 472 KB

2020

27

Long non-coding RNA MIR4300HG polymorphisms are associated with postoperative nausea and vomiting: a genome-wide association study

Sugino, Shigekazu, Konno, Daisuke, Kawai, Yosuke, Nagasaki, Masao, Endo, Yasuhiro, Hayase, Tomo, Yamazaki-Higuchi, Misako, Kumeta, Yukihiro, Tachibana, Shunsuke, Saito, Katsuhiko, Suzuki, Jun, Kido, K

Journal:

Year:

2020

File:

PDF, 1018 KB

2020

28

A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability

Sapey-Triomphe, Laurie-Anne, Reversat, Julie, Lesca, GaÃ«tan, Chatron, Nicolas, Bussa, Marina, Mazoyer, Sylvie, Schmitz, Christina, SoniÃ©, Sandrine, Edery, Patrick

Journal:

Year:

2020

File:

PDF, 753 KB

2020

29

Exploration of CYP21A2 and CYP17A1 polymorphisms and preeclampsia risk among Chinese Han population: a large-scale case-control study based on 5021 subjects

Hou, Bo, Jia, Xuewen, Deng, Ziwen, Liu, Xin, Liu, Huitang, Yu, Haichu, Liu, Shiguo

Journal:

Year:

2020

File:

PDF, 560 KB

2020

30

Aberration of the modulatory functions of intronic microRNA hsa-miR-933 on its host gene ATF2 results in type II diabetes mellitus and neurodegenerative disease development

Islam, Abul Bashar Mir Md. Khademul, Mohammad, Eusra, Khan, Md. Abdullah-Al-Kamran

Journal:

Year:

2020

File:

PDF, 2.66 MB

2020

31

Practicing precision medicine with intelligently integrative clinical and multi-omics data analysis

Journal:

Year:

2020

File:

PDF, 829 KB

2020

32

Evaluation of a genetic risk score for severity of COVID-19 using human chromosomal-scale length variation

Toh, Christopher, Brody, James P.

Journal:

Year:

2020

File:

PDF, 549 KB

2020

33

Human genetic factors associated with susceptibility to SARS-CoV-2 infection and COVID-19 disease severity

Anastassopoulou, Cleo, Gkizarioti, Zoi, Patrinos, George P., Tsakris, Athanasios

Journal:

Year:

2020

File:

PDF, 616 KB

2020

34

Mild dyserythropoiesis and Î²-like globin gene expression imbalance due to the loss of histone chaperone ASF1B

Papadopoulos, Petros, Kafasi, Athanassia, De Cuyper, Iris M., Barroca, Vilma, Lewandowski, Daniel, Kadri, Zahra, Veldthuis, Martijn, Berghuis, Jeffrey, Gillemans, Nynke, Cuesta, Celina MarÃa Benavent

Journal:

Year:

2020

File:

PDF, 1.06 MB

2020

35

A miR-182 variant and risk of hepatocellular carcinoma in a southern Chinese population

Qiu, Moqin, Liu, Yingchun, Lin, Qiuling, Zhou, Zihan, Jiang, Yanji, Huo, Rongrui, Liang, Xiumei, Yu, Xiangyuan, Cao, Ji, Zhou, Xianguo, Yu, Hongping

Journal:

Year:

2020

File:

PDF, 301 KB

2020

36

The social, economic, political, and genetic value of race and ethnicity in 2020

Mersha, Tesfaye B., Beck, Andrew F.

Journal:

Year:

2020

File:

PDF, 914 KB

2020

37

Aldh1l2 knockout mouse metabolomics links the loss of the mitochondrial folate enzyme to deregulation of a lipid metabolism observed in rare human disorder

Krupenko, Natalia I., Sharma, Jaspreet, Pediaditakis, Peter, Helke, Kristi L., Hall, Madeline S., Du, Xiuxia, Sumner, Susan, Krupenko, Sergey A.

Journal:

Year:

2020

File:

PDF, 3.40 MB

2020

38

Microarray analysis identification of key pathways and interaction network of differential gene expressions during osteogenic differentiation

Khodabandehloo, Fatemeh, Taleahmad, Sara, Aflatoonian, Reza, Rajaei, Farzad, Zandieh, Zahra, Nassiri-Asl, Marjan, Eslaminejad, Mohamadreza Baghaban

Journal:

Year:

2020

File:

PDF, 1.79 MB

2020

39

Correction to: The social, economic, political, and genetic value of race and ethnicity in 2020

Mersha, Tesfaye B., Beck, Andrew F.

Journal:

Year:

2020

File:

PDF, 436 KB

2020

40

A rational approach to COVID-19

Mehrian-Shai, Ruty

Journal:

Year:

2020

File:

PDF, 499 KB

2020

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