Works matching IS 14739542 AND DT 2023 AND VI 17 AND IP 1

Results: 115

SPP1 is associated with adverse prognosis and predicts immunotherapy efficacy in penile cancer.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00558-5

By:

Zou, Yuantao;
Tan, Xingliang;
Yuan, Gangjun;
Tang, Yi;
Wang, Yanjun;
Yang, Cong;
Luo, Sihao;
Wu, Zhiming;
Yao, Kai

Publication type:

Article

What is the functional reach of wastewater surveillance for respiratory viruses, pathogenic viruses of concern, and bacterial antibiotic resistance genes of interest?

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00563-8

By:

Sokoloski, Kevin J.;
Holm, Rochelle H.;
Smith, Melissa;
Ford, Easton E.;
Rouchka, Eric C.;
Smith, Ted

Publication type:

Article

Mitochondrial DNA copy number variation across three generations: a possible biomarker for assessing perinatal outcomes.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00567-4

By:

Fukunaga, Hisanori;
Ikeda, Atsuko

Publication type:

Article

Mitochondrial DNA copy number variation across three generations: a possible biomarker for assessing perinatal outcomes.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00567-4

By:

Fukunaga, Hisanori;
Ikeda, Atsuko

Publication type:

Article

LINE-1 global DNA methylation, iron homeostasis genes, sex and age in sudden sensorineural hearing loss (SSNHL).

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00562-9

By:

Tisato, Veronica;
Castiglione, Alessandro;
Ciorba, Andrea;
Aimoni, Claudia;
Silva, Juliana Araujo;
Gallo, Ines;
D'Aversa, Elisabetta;
Salvatori, Francesca;
Bianchini, Chiara;
Pelucchi, Stefano;
Secchiero, Paola;
Zauli, Giorgio;
Singh, Ajay Vikram;
Gemmati, Donato

Publication type:

Article

Two novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00559-4

By:

Bao, Xiuqin;
Qin, Danqing;
Wang, Jicheng;
Chen, Jing;
Yao, Cuize;
Liang, Jie;
Liang, Kailing;
Wang, Yixia;
Wang, Yousheng;
Du, Li;
Yin, Aihua

Publication type:

Article

Triangulating nutrigenomics, metabolomics and microbiomics toward personalized nutrition and healthy living.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00561-w

By:

Lagoumintzis, George;
Patrinos, George P.

Publication type:

Article

Two novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00559-4

By:

Bao, Xiuqin;
Qin, Danqing;
Wang, Jicheng;
Chen, Jing;
Yao, Cuize;
Liang, Jie;
Liang, Kailing;
Wang, Yixia;
Wang, Yousheng;
Du, Li;
Yin, Aihua

Publication type:

Article

Whole mitogenome sequencing uncovers a relation between mitochondrial heteroplasmy and leprosy severity.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00555-8

By:

de Souza, Felipe Gouvea;
da Silva, Moisés Batista;
de Araújo, Gilderlanio S.;
Silva, Caio S.;
Pinheiro, Andrey Henrique Gama;
Cáceres-Durán, Miguel Ángel;
Santana-da-Silva, Mayara Natália;
Pinto, Pablo;
Gobbo, Angélica Rita;
da Costa, Patrícia Fagundes;
Salgado, Claudio Guedes;
Ribeiro-dos-Santos, Ândrea;
Cavalcante, Giovanna C.

Publication type:

Article

Targeted sequencing of high-density SNPs provides an enhanced tool for forensic applications and genetic landscape exploration in Chinese Korean ethnic group.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00541-0

By:

Lan, Qiong;
Lin, Yifeng;
Wang, Xi;
Yuan, Xi;
Shen, Chunmei;
Zhu, Bofeng

Publication type:

Article

A case–control comparison of acute-phase peripheral blood gene expression in participants diagnosed with minor ischaemic stroke or stroke mimics.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00551-y

By:

Moxon, Joseph V.;
Calcino, Andrew;
Kraeuter, Ann-Katrin;
Phie, James;
Anderson, Georgina;
Standley, Glenys;
Sealey, Cindy;
Jones, Rhondda E.;
Field, Matt A.;
Golledge, Jonathan

Publication type:

Article

Dispersed DNA variants underlie hearing loss in South Florida's minority population.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00556-7

By:

Peart, LéShon;
Gonzalez, Joanna;
Morel Swols, Dayna;
Duman, Duygu;
Saridogan, Turcin;
Ramzan, Memoona;
Zafeer, Mohammad Faraz;
Liu, Xue Zhong;
Eshraghi, Adrien A.;
Hoffer, Michael E.;
Angeli, Simon I.;
Bademci, Guney;
Blanton, Susan;
Smith, Carson;
Telischi, Fred F.;
Tekin, Mustafa

Publication type:

Article

Emerging trends in pharmacogenomics: from common variant associations toward comprehensive genomic profiling.

Published in:

2023

By:

Ingelman-Sundberg, Magnus;
Nebert, Daniel W.;
Lauschke, Volker M.

Publication type:

Editorial

Phenome-wide association study on miRNA-related sequence variants: the UK Biobank.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00553-w

By:

Mustafa, Rima;
Ghanbari, Mohsen;
Karhunen, Ville;
Evangelou, Marina;
Dehghan, Abbas

Publication type:

Article

The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00549-6

By:

Quaio, Caio Robledo D'Angioli Costa;
Ceroni, José Ricardo Magliocco;
Pereira, Michele Araújo;
Teixeira, Anne Caroline Barbosa;
Yamada, Renata Yoshiko;
Cintra, Vivian Pedigone;
Perrone, Eduardo;
De França, Marina;
Chen, Kelin;
Minillo, Renata Moldenhauer;
Biondo, Cheysa Arielly;
de Mello, Mariana Rezende Bandeira;
Moura, Lais Rodrigues;
do Nascimento, Amanda Thamires Batista;
de Oliveira Pelegrino, Karla;
de Lima, Larissa Barbosa;
do Amaral Virmond, Luiza;
Moreno, Carolina Araujo;
Prota, Joana Rosa Marques;
de Araujo Espolaor, Jessica Grasiela

Publication type:

Article

Identification of genetic loci jointly influencing COVID-19 and coronary heart diseases.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00547-8

By:

Wang, Siyue;
Peng, Hexiang;
Chen, Feng;
Liu, Chunfang;
Zheng, Qiwen;
Wang, Mengying;
Wang, Jiating;
Yu, Huan;
Xue, Enci;
Chen, Xi;
Wang, Xueheng;
Fan, Meng;
Qin, Xueying;
Wu, Yiqun;
Li, Jin;
Ye, Ying;
Chen, Dafang;
Hu, Yonghua;
Wu, Tao

Publication type:

Article

Genetic evidence for the causal association between type 1 diabetes and the risk of polycystic ovary syndrome.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00550-z

By:

Chen, Shuwen;
Guo, Zaixin;
Yu, Qi

Publication type:

Article

The burden of rare variants in DPYS gene is a novel predictor of the risk of developing severe fluoropyrimidine-related toxicity.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00546-9

By:

De Mattia, Elena;
Polesel, Jerry;
Silvestri, Marco;
Roncato, Rossana;
Scarabel, Lucia;
Calza, Stefano;
Spina, Michele;
Puglisi, Fabio;
Toffoli, Giuseppe;
Cecchin, Erika

Publication type:

Article

The attitude and behaviors of the different spheres of the community of the United Arab Emirates toward the clinical utility and bioethics of secondary genetic findings: a cross-sectional study.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00548-7

By:

Rahma, Azhar T.;
Abdullahi, Aminu S.;
Graziano, Giulia;
Elbarazi, Iffat

Publication type:

Article

Comprehensive analysis of alternative splicing across multiple transcriptomic cohorts reveals prognostic signatures in prostate cancer.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00545-w

By:

Mou, Zhuofan;
Spencer, Jack;
McGrath, John S.;
Harries, Lorna W.

Publication type:

Article

Multidimensional fragmentomic profiling of cell-free DNA released from patient-derived organoids.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00533-0

By:

Kim, Jaeryuk;
Hong, Seung-Pyo;
Lee, Seyoon;
Lee, Woochan;
Lee, Dakyung;
Kim, Rokhyun;
Park, Young Jun;
Moon, Sungji;
Park, Kyunghyuk;
Cha, Bukyoung;
Kim, Jong-Il

Publication type:

Article

The complex impact of cancer-related missense mutations on the stability and on the biophysical and biochemical properties of MAPK1 and MAPK3 somatic variants.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00544-x

By:

Petrosino, Maria;
Novak, Leonore;
Pasquo, Alessandra;
Turina, Paola;
Capriotti, Emidio;
Minicozzi, Velia;
Consalvi, Valerio;
Chiaraluce, Roberta

Publication type:

Article

Transcriptome driven discovery of novel candidate genes for human neurological disorders in the telomer-to-telomer genome assembly era.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00543-y

By:

Falker-Gieske, Clemens

Publication type:

Article

FGFR1 variants contributed to families with tooth agenesis.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00539-8

By:

Yao, Siyue;
Zhou, Xi;
Gu, Min;
Zhang, Chengcheng;
Bartsch, Oliver;
Vona, Barbara;
Fan, Liwen;
Ma, Lan;
Pan, Yongchu

Publication type:

Article

Epigenomic signature of major congenital heart defects in newborns with Down syndrome.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00540-1

By:

Mouat, Julia S.;
Li, Shaobo;
Myint, Swe Swe;
Laufer, Benjamin I.;
Lupo, Philip J.;
Schraw, Jeremy M.;
Woodhouse, John P.;
de Smith, Adam J.;
LaSalle, Janine M.

Publication type:

Article

Decoding cell-type contributions to the cfRNA transcriptomic landscape of liver cancer.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00537-w

By:

Safrastyan, Aram;
zu Siederdissen, Christian Höner;
Wollny, Damian

Publication type:

Article

Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00535-y

By:

Lee, Mianne;
Lui, Adrian C. Y.;
Chan, Joshua C. K.;
Doong, Phoenix H. L.;
Kwong, Anna K. Y.;
Mak, Christopher C. Y.;
Li, Raymond H. W.;
Kan, Anita S. Y.;
Chung, Brian H. Y.

Publication type:

Article

Whole-exome sequencing reveals candidate high-risk susceptibility genes for endometriosis.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00538-9

By:

Nousiainen, Susanna;
Kuismin, Outi;
Reinikka, Siiri;
Manninen, Roosa;
Khamaiseh, Sara;
Kuivalainen, Mari;
Terho, Anna;
Koivurova, Sari;
Niinimäki, Maarit;
Salokas, Kari;
Varjosalo, Markku;
Ahtikoski, Anne;
Bützow, Ralf;
Lindgren, Outi;
Uimari, Outi;
Vahteristo, Pia

Publication type:

Article

Mendelian randomization analysis reveals fresh fruit intake as a protective factor for urolithiasis.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00523-2

By:

Lin, Yiwei;
Zhou, Cheng;
Wu, Yuqing;
Chen, Hong;
Xie, Liping;
Zheng, Xiangyi

Publication type:

Article

The causal relationship between COVID-19 and seventeen common digestive diseases: a two-sample, multivariable Mendelian randomization study.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00536-x

By:

Wang, Zhiqi;
Zhou, Huanyu;
Zhang, Shurui;
Wang, Fei;
Huang, Haishan

Publication type:

Article

ANXA1 is identified as a key gene associated with high risk and T cell infiltration in primary sclerosing cholangitis.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00534-z

By:

Zhang, Jian;
Wang, Huiwen;
Liu, Jinqing;
Fu, Lei;
Peng, Shifang

Publication type:

Article

Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00532-1

By:

Pascual-Alonso, Ainhoa;
Xiol, Clara;
Smirnov, Dmitrii;
Kopajtich, Robert;
Prokisch, Holger;
Armstrong, Judith

Publication type:

Article

Generation and characterization of a zebrafish knockout model of abcb4, a homolog of the human multidrug efflux transporter P-glycoprotein.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00530-3

By:

Park, Jinhee;
Kim, Hyosung;
Alabdalla, Leen;
Mishra, Smriti;
Mchaourab, Hassane

Publication type:

Article

RUN(X) out of blood: emerging RUNX1 functions beyond hematopoiesis and links to Down syndrome.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00531-2

By:

Rozen, Esteban J.;
Ozeroff, Christopher D.;
Allen, Mary Ann

Publication type:

Article

Genetics in ophthalmology: molecular blueprints of retinoblastoma.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00529-w

By:

Marković, Leon;
Bukovac, Anja;
Varošanec, Ana Maria;
Šlaus, Nika;
Pećina-Šlaus, Nives

Publication type:

Article

A genome-wide cross-trait analysis identifies genomic correlation, pleiotropic loci, and causal relationship between sex hormone-binding globulin and rheumatoid arthritis.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00528-x

By:

Jiang, Yuan;
Liu, Qianwen;
Alfredsson, Lars;
Klareskog, Lars;
Kockum, Ingrid;
Jiang, Xia

Publication type:

Article

Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes.

Published in:

2023

By:

Silvaieh, Sara;
König, Theresa;
Wurm, Raphael;
Parvizi, Tandis;
Berger-Sieczkowski, Evelyn;
Goeschl, Stella;
Hotzy, Christoph;
Wagner, Matias;
Berutti, Riccardo;
Sammler, Esther;
Stögmann, Elisabeth;
Zimprich, Alexander

Publication type:

Correction Notice

The RNA m6A modification might participate in microglial activation during hypoxic–ischemic brain damage in neonatal mice.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00527-y

By:

Su, Xiaojuan;
Huang, Lingyi;
Li, Shiping;
Ying, Junjie;
Zhao, Fengyan;
Wang, Shaopu;
Liu, Qian;
Qu, Yi;
Mu, Dezhi

Publication type:

Article

Developing neural network diagnostic models and potential drugs based on novel identified immune-related biomarkers for celiac disease.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00526-z

By:

Shen, Tao;
Wang, Haiyang;
Hu, Rongkang;
Lv, Yanni

Publication type:

Article

Next-generation sequencing analysis of the molecular spectrum of thalassemia in Southern Jiangxi, China.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00520-5

By:

Yang, Tong;
Luo, Xuemei;
Liu, Yanqiu;
Lin, Min;
Zhao, Qinfei;
Zhang, Wenqian;
Chen, Zhigang;
Dong, Minghua;
Wang, Junli;
Wang, Qi;
Zhang, Xiaokang;
Zhong, Tianyu

Publication type:

Article

Determining the utility of diagnostic genomics: a conceptual framework.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00524-1

By:

Mallett, Andrew;
Stark, Zornitza;
Fehlberg, Zoe;
Best, Stephanie;
Goranitis, Ilias

Publication type:

Article

Correction: Landscape of germline pathogenic variants in patients with dual primary breast and lung cancer.

Published in:

2023

By:

Lee, Ning-Yuan;
Hum, Melissa;
Zihara, Sabna;
Wang, Lanying;
Myint, Matthew K.;
Lim, Darren Wan-Teck;
Toh, Chee-Keong;
Skanderup, Anders;
Samol, Jens;
Tan, Min-Han;
Ang, Peter;
Lee, Soo-Chin;
Tan, Eng-Huat;
Lai, Gillianne G. Y.;
Tan, Daniel S. W.;
Yap, Yoon-Sim;
Lee, Ann S. G.

Publication type:

Correction Notice

The application of long-read sequencing in clinical settings.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00522-3

By:

Oehler, Josephine B.;
Wright, Helen;
Stark, Zornitza;
Mallett, Andrew J.;
Schmitz, Ulf

Publication type:

Article

Total RNA sequencing reveals gene expression and microbial alterations shared by oral pre-malignant lesions and cancer.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00519-y

By:

Khan, Mohammed Muzamil;
Frustino, Jennifer;
Villa, Alessandro;
Nguyen, Bach-Cuc;
Woo, Sook-Bin;
Johnson, William Evan;
Varelas, Xaralabos;
Kukuruzinska, Maria;
Monti, Stefano

Publication type:

Article

Transcriptome and proteome analysis reveals the anti-cancer properties of Hypnea musciformis marine macroalga extract in liver and intestinal cancer cells.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00517-0

By:

Begolli, Rodiola;
Chatziangelou, Myrto;
Samiotaki, Martina;
Goutas, Andreas;
Barda, Sofia;
Goutzourelas, Nikolaos;
Kevrekidis, Dimitrios Phaedon;
Malea, Paraskevi;
Trachana, Varvara;
Liu, Ming;
Lin, Xiukun;
Kollatos, Nikolaos;
Stagos, Dimitrios;
Giakountis, Antonis

Publication type:

Article

Mitochondrial genome study in blood of maternally inherited ALS cases.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00516-1

By:

Brockmann, Sarah J.;
Buck, Eva;
Casoli, Tiziana;
Meirelles, João L.;
Ruf, Wolfgang P.;
Fabbietti, Paolo;
Holzmann, Karlheinz;
Weishaupt, Jochen H.;
Ludolph, Albert C.;
Conti, Fiorenzo;
Danzer, Karin M.

Publication type:

Article

CVD-associated SNPs with regulatory potential reveal novel non-coding disease genes.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00513-4

By:

Zhu, Chaonan;
Baumgarten, Nina;
Wu, Meiqian;
Wang, Yue;
Das, Arka Provo;
Kaur, Jaskiran;
Ardakani, Fatemeh Behjati;
Duong, Thanh Thuy;
Pham, Minh Duc;
Duda, Maria;
Dimmeler, Stefanie;
Yuan, Ting;
Schulz, Marcel H.;
Krishnan, Jaya

Publication type:

Article

Knowledge, attitudes, and perceptions of the multi-ethnic population of the United Arab Emirates on genomic medicine and genetic testing.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00509-0

By:

Rahma, Azhar T.;
Ali, Bassam R.;
Patrinos, George P.;
Ahmed, Luai A.;
Elbarazi, Iffat;
Abdullahi, Aminu S.;
Elsheik, Mahanna;
Abbas, Maram;
Afandi, Farah;
Alnaqbi, Aisha;
Al Maskari, Fatma

Publication type:

Article

Characterizing the polygenic architecture of complex traits in populations of East Asian and European descent.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00514-3

By:

De Lillo, Antonella;
Wendt, Frank R.;
Pathak, Gita A.;
Polimanti, Renato

Publication type:

Article

Whole-genome sequencing and functional annotation of pathogenic Paraconiothyrium brasiliense causing human cellulitis.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00512-5

By:

Liu, Haibing;
Zhang, Yue;
Chen, Jianguo

Publication type:

Article