Research Papers

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Integrative analysis of a novel super-enhancer-associated lncRNA prognostic signature and identifying LINC00945 in aggr…
Yang Z; Zheng Y; Wu H; Xie H; Zhao J; Chen Z; Li L; Yue X; Zhao B; Bian E.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels.
Einhorn Y; Einhorn M; Kurolap A; Steinberg D; Mory A; Bazak L; Paperna T; Grinshpun-Cohen J; Basel-Salmon L; Weiss K; Singer A; Yaron Y; Baris Feldman H.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Multiple founding paternal lineages inferred from the newly-developed 639-plex Y-SNP panel suggested the complex admixt…
He G; Wang M; Miao L; Chen J; Zhao J; Sun Q; Duan S; Wang Z; Xu X; Sun Y; Liu Y; Liu J; Wang Z; Wei L; Liu C; Ye J; Wang L.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Pharmacy students' attitudes and intentions of pursuing postgraduate studies and training in pharmacogenomics and perso…
Makrygianni D; Koufaki MI; Patrinos GP; Vasileiou KZ.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiop…
Guey S; Hervé D; Kossorotoff M; Ha G; Aloui C; Bergametti F; Arnould M; Guenou H; Hadjadj J; Dubois Teklali F; Riant F; Balligand JL; Uzan G; Villoutreix BO; Tournier-Lasserve E.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Comprehensive analysis of cuproptosis-related long noncoding RNA for predicting prognostic and diagnostic value and imm…
Liu S; Zhang S; Liu Y; Yang X; Zheng G.
Hum Genomics (Unknown)
Published: 2023
4/6 Transparent
Code Funding Declared
Localized assembly for long reads enables genome-wide analysis of repetitive regions at single-base resolution in human…
Ikemoto K; Fujimoto H; Fujimoto A.
Hum Genomics (Unknown)
Published: 2023
5/6 Transparent
Data Code Funding Declared
A crowdsourcing database for the copy-number variation of the Spanish population.
López-López D; Roldán G; Fernández-Rueda JL; Bostelmann G; Carmona R; Aquino V; Perez-Florido J; Ortuño F; Pita G; Núñez-Torres R; González-Neira A; CSVS Crowdsourcing Group; Peña-Chilet M; Dopazo J.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Association between interleukin-10 gene polymorphisms (rs1800871, rs1800872, and rs1800896) and severity of infection i…
Abbood SJA; Anvari E; Fateh A.
Hum Genomics (Unknown)
Published: 2023
2/6 Transparent
Regulon active landscape reveals cell development and functional state changes of human primary osteoblasts in vivo.
Wang S; Gong Y; Wang Z; Meng X; Luo Z; Papasian CJ; Greenbaum J; Li Y; Liang Q; Chen Y; Li X; Xiang Q; Zhang H; Liu Y; Cheng L; Hu Y; Tan L; Shen H; Xiao H; Deng H.
Hum Genomics (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a …
Vaisitti T; Bracciamà V; Faini AC; Brach Del Prever GM; Callegari M; Kalantari S; Mioli F; Romeo CM; Luca M; Camilla R; Mattozzi F; Gianoglio B; Peruzzi L; Amoroso A; Deaglio S.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Data-driven identification and classification of nonlinear aging patterns reveals the landscape of associations between…
Okada D; Cheng JH; Zheng C; Kumaki T; Yamada R.
Hum Genomics (Unknown)
Published: 2023
5/6 Transparent
Data Code Funding Declared
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.
de Sainte Agathe JM; Filser M; Isidor B; Besnard T; Gueguen P; Perrin A; Van Goethem C; Verebi C; Masingue M; Rendu J; Cossée M; Bergougnoux A; Frobert L; Buratti J; Lejeune É; Le Guern É; Pasquier F; Clot F; Kalatzis V; Roux AF; Cogné B; Baux D.
Hum Genomics (Unknown)
Published: 2023
5/6 Transparent
Data Code Funding Declared
Predictors of the utility of clinical exome sequencing as a first-tier genetic test in patients with Mendelian phenotyp…
Alix T; Chéry C; Josse T; Bronowicki JP; Feillet F; Guéant-Rodriguez RM; Namour F; Guéant JL; Oussalah A.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Tsc2 mutation rather than Tsc1 mutation dominantly causes a social deficit in a mouse model of tuberous sclerosis compl…
Kashii H; Kasai S; Sato A; Hagino Y; Nishito Y; Kobayashi T; Hino O; Mizuguchi M; Ikeda K.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Genome-wide allele and haplotype-sharing patterns suggested one unique Hmong-Mein-related lineage and biological adapta…
He G; Wang J; Yang L; Duan S; Sun Q; Li Y; Wu J; Wu W; Wang Z; Liu Y; Tang R; Yang J; Liu C; Yuan B; Wang D; Xu J; Wang M.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J; Ma X; Lin K; Huang R; Bi X; Ming C; Li L; Li X; Li G; Zhao L; Yang T; Gao Y; Zhang T.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Circulating miR-320a-3p and miR-483-5p level associated with pharmacokinetic-pharmacodynamic profiles of rivaroxaban.
Zhang H; Zhang Z; Liu Z; Mu G; Xie Q; Zhou S; Wang Z; Cao Y; Tan Y; Wei X; Yuan D; Xiang Q; Cui Y.
Hum Genomics (Unknown)
Published: 2022
4/6 Transparent
Registered Funding Declared
Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.
Al Anazi AH; Ammar AS; Al-Hajj M; Cyrus C; Aljaafari D; Khoda I; Abdelfatah AK; Alsulaiman AA; Alanazi F; Alanazi R; Gandla D; Lad H; Barayan S; Keating BJ; Al-Ali AK.
Hum Genomics (Unknown)
Published: 2022
3/6 Transparent
Funding Declared
Preimplantation genetic testing for aneuploidy: challenges in clinical practice.
Yang H; DeWan AT; Desai MM; Vermund SH.
Hum Genomics (Unknown)
Published: 2022
3/6 Transparent
Funding Declared
Identification of a minimum number of genes to predict triple-negative breast cancer subgroups from gene expression pro…
Akhouayri L; Ostano P; Mello-Grand M; Gregnanin I; Crivelli F; Laurora S; Liscia D; Leone F; Santoro A; Mulè A; Guarino D; Maggiore C; Carlino A; Magno S; Scatolini M; Di Leone A; Masetti R; Chiorino G.
Hum Genomics (Unknown)
Published: 2022
4/6 Transparent
Data Funding Declared
The integration of large-scale public data and network analysis uncovers molecular characteristics of psoriasis.
Federico A; Pavel A; Möbus L; McKean D; Del Giudice G; Fortino V; Niehues H; Rastrick J; Eyerich K; Eyerich S; van den Bogaard E; Smith C; Weidinger S; de Rinaldis E; Greco D.
Hum Genomics (Unknown)
Published: 2022
5/6 Transparent
Data Code Funding Declared
Whole-exome sequencing of BRCA-negative breast cancer patients and case-control analyses identify variants associated w…
Lee NY; Hum M; Amali AA; Lim WK; Wong M; Myint MK; Tay RJ; Ong PY; Samol J; Lim CW; Ang P; Tan MH; Lee SC; Lee ASG.
Hum Genomics (Unknown)
Published: 2022
4/6 Transparent
Data Funding Declared
Increased risk of COVID-19 mortality rate in IFITM3 rs6598045 G allele carriers infected by SARS-CoV-2 delta variant.
Gholami M; Sakhaee F; Sotoodehnejadnematalahi F; Zamani MS; Ahmadi I; Anvari E; Fateh A.
Hum Genomics (Unknown)
Published: 2022
3/6 Transparent
Data
Differential upregulation of AU-rich element-containing mRNAs in COVID-19.
Bakheet T; Khabar KSA; Hitti EG.
Hum Genomics (Unknown)
Published: 2022
3/6 Transparent
Funding Declared