Research Papers

25 of 476 papers

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RUN(X) out of blood: emerging RUNX1 functions beyond hematopoiesis and links to Down syndrome.
Rozen EJ; Ozeroff CD; Allen MA.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Genetics in ophthalmology: molecular blueprints of retinoblastoma.
Marković L; Bukovac A; Varošanec AM; Šlaus N; Pećina-Šlaus N.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
A genome-wide cross-trait analysis identifies genomic correlation, pleiotropic loci, and causal relationship between se…
Jiang Y; Liu Q; Alfredsson L; Klareskog L; Kockum I; Jiang X.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Developing neural network diagnostic models and potential drugs based on novel identified immune-related biomarkers for…
Shen T; Wang H; Hu R; Lv Y.
Hum Genomics (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
Determining the utility of diagnostic genomics: a conceptual framework.
Mallett A; Stark Z; Fehlberg Z; Best S; Goranitis I.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Transcriptome and proteome analysis reveals the anti-cancer properties of Hypnea musciformis marine macroalga extract i…
Begolli R; Chatziangelou M; Samiotaki M; Goutas A; Barda S; Goutzourelas N; Kevrekidis DP; Malea P; Trachana V; Liu M; Lin X; Kollatos N; Stagos D; Giakountis A.
Hum Genomics (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
Mitochondrial genome study in blood of maternally inherited ALS cases.
Brockmann SJ; Buck E; Casoli T; Meirelles JL; Ruf WP; Fabbietti P; Holzmann K; Weishaupt JH; Ludolph AC; Conti F; Danzer KM.
Hum Genomics (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
CVD-associated SNPs with regulatory potential reveal novel non-coding disease genes.
Zhu C; Baumgarten N; Wu M; Wang Y; Das AP; Kaur J; Ardakani FB; Duong TT; Pham MD; Duda M; Dimmeler S; Yuan T; Schulz MH; Krishnan J.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Whole-genome sequencing and functional annotation of pathogenic Paraconiothyrium brasiliense causing human cellulitis.
Liu H; Zhang Y; Chen J.
Hum Genomics (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
The mutational landscape of a US Midwestern breast cancer cohort reveals subtype-specific cancer drivers and prognostic…
Vellichirammal NN; Tan YD; Xiao P; Eudy J; Shats O; Kelly D; Desler M; Cowan K; Guda C.
Hum Genomics (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
Pharmacovariome scanning using whole pharmacogene resequencing coupled with deep computational analysis and machine lea…
Tafazoli A; Mikros J; Khaghani F; Alimardani M; Rafigh M; Hemmati M; Siamoglou S; Golińska AK; Kamiński KA; Niemira M; Miltyk W; Patrinos GP.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Smoking-related dysregulation of plasma circulating microRNAs: the Rotterdam study.
Karabegović I; Maas SCE; Shuai Y; Ikram MA; Stricker B; Aerts J; Brusselle G; Lahousse L; Voortman T; Ghanbari M.
Hum Genomics (Unknown)
Published: 2023
4/6 Transparent
Registered Funding Declared
The impact of ABCB1, CYP3A4/5 and ABCG2 gene polymorphisms on rivaroxaban trough concentrations and bleeding events in …
Wu T; Wu S; Li L; Xiang J; Wang N; Chen W; Zhang J.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Alzheimer's disease: using gene/protein network machine learning for molecule discovery in olive oil.
Rita L; Neumann NR; Laponogov I; Gonzalez G; Veselkov D; Pratico D; Aalizadeh R; Thomaidis NS; Thompson DC; Vasiliou V; Veselkov K.
Hum Genomics (Unknown)
Published: 2023
4/6 Transparent
Code Funding Declared
Monitoring SARS-CoV-2 variants in wastewater of Dhaka City, Bangladesh: approach to complement public health surveillan…
Haque R; Hossain ME; Miah M; Rahman M; Amin N; Rahman Z; Islam MS; Rahman MZ.
Hum Genomics (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
Phenotypic variability to medication management: an update on fragile X syndrome.
Elhawary NA; AlJahdali IA; Abumansour IS; Azher ZA; Falemban AH; Madani WM; Alosaimi W; Alghamdi G; Sindi IA.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
The impact of ACE2 polymorphisms (rs1978124, rs2285666, and rs2074192) and ACE1 rs1799752 in the mortality rate of COVI…
Sheikhian F; Sadeghi Mofrad S; Tarashi S; Ghazanfari Jajin M; Sakhaee F; Ahmadi I; Anvari E; Sheikhpour M; Fateh A.
Hum Genomics (Unknown)
Published: 2023
2/6 Transparent
Evaluation of a genetic risk score computed using human chromosomal-scale length variation to predict breast cancer.
Ko C; Brody JP.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Systems genetics identifies miRNA-mediated regulation of host response in COVID-19.
Gjorgjieva T; Chaloemtoem A; Shahin T; Bayaraa O; Dieng MM; Alshaikh M; Abdalbaqi M; Del Monte J; Begum G; Leonor C; Manikandan V; Drou N; Arshad M; Arnoux M; Kumar N; Jabari A; Abdulle A; ElGhazali G; Ali R; Shaheen SY; Abdalla J; Piano F; Gunsalus KC; Daggag H; Al Nahdi H; Abuzeid H; Idaghdour Y.
Hum Genomics (Unknown)
Published: 2023
5/6 Transparent
Data Code Funding Declared
Analyzing the role of ACE2, AR, MX1 and TMPRSS2 genetic markers for COVID-19 severity.
Martinez-Diz S; Morales-Álvarez CM; Garcia-Iglesias Y; Guerrero-González JM; Romero-Cachinero C; González-Cabezuelo JM; Fernandez-Rosado FJ; Arenas-Rodríguez V; Lopez-Cintas R; Alvarez-Cubero MJ; Martinez-Gonzalez LJ.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Genomic approaches to identify and investigate genes associated with atrial fibrillation and heart failure susceptibili…
Patel KK; Venkatesan C; Abdelhalim H; Zeeshan S; Arima Y; Linna-Kuosmanen S; Ahmed Z.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
A heterozygous mutation in UBE2H in a patient with developmental delay leads to an aberrant brain development in zebraf…
Shin U; Choi Y; Ko HS; Myung K; Lee S; Cheon CK; Lee Y.
Hum Genomics (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families.
Asaad M; Mahfood M; Al Mutery A; Tlili A.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Autosomal recessive congenital cataract is associated with a novel 4-bp splicing deletion mutation in a novel C10orf71 …
Chograni M; Alahdal HM; Rejili M.
Hum Genomics (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
Genome-wide analysis toward the epigenetic aetiology of myelodysplastic syndrome disease progression and pharmacoepigen…
Siamoglou S; Boers R; Koromina M; Boers J; Tsironi A; Chatzilygeroudi T; Lazaris V; Verigou E; Kourakli A; van IJcken WFJ; Gribnau J; Symeonidis A; Patrinos GP.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared