Research Papers

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Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy.
Ju Y; Chen T; Ruan L; Zhao Y; Chang Q; Huang X.
Hum Genomics (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
A broad wastewater screening and clinical data surveillance for virus-related diseases in the metropolitan Detroit area…
Li Y; Miyani B; Faust RA; David RE; Xagoraraki I.
Hum Genomics (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Solanidine is a sensitive and specific dietary biomarker for CYP2D6 activity.
Kiiski JI; Neuvonen M; Kurkela M; Hirvensalo P; Hämäläinen K; Tarkiainen EK; Sistonen J; Korhonen M; Khan S; Orpana A; Filppula AM; Lehtonen M; Niemi M.
Hum Genomics (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Wastewater-based epidemiology applied at the building-level reveals distinct virome profiles based on the age of the co…
Mejías-Molina C; Pico-Tomàs A; Martínez-Puchol S; Itarte M; Torrell H; Canela N; Borrego CM; Corominas L; Rusiñol M; Bofill-Mas S.
Hum Genomics (Unknown)
Published: 2024
4/6 Transparent
Data Funding Declared
A novel upregulated hsa_circ_0032746 regulates the oncogenesis of esophageal squamous cell carcinoma by regulating miR-…
Shrestha SM; Fang X; Ye H; Ren L; Ji Q; Shi R.
Hum Genomics (Unknown)
Published: 2024
4/6 Transparent
Data Funding Declared
SPP1 is associated with adverse prognosis and predicts immunotherapy efficacy in penile cancer.
Zou Y; Tan X; Yuan G; Tang Y; Wang Y; Yang C; Luo S; Wu Z; Yao K.
Hum Genomics (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
The Human Genome Organisation (HUGO) and a vision for Ecogenomics: the Ecological Genome Project.
Capps B; Chadwick R; Lederman Z; Lysaght T; Mills C; Mulvihill JJ; Oetting WS; Winship I; HUGO Committee on Ethics; Law and Society.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
What is the functional reach of wastewater surveillance for respiratory viruses, pathogenic viruses of concern, and bac…
Sokoloski KJ; Holm RH; Smith M; Ford EE; Rouchka EC; Smith T.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Mitochondrial DNA copy number variation across three generations: a possible biomarker for assessing perinatal outcomes.
Fukunaga H; Ikeda A.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Whole mitogenome sequencing uncovers a relation between mitochondrial heteroplasmy and leprosy severity.
de Souza FG; da Silva MB; de Araújo GS; Silva CS; Pinheiro AHG; Cáceres-Durán MÁ; Santana-da-Silva MN; Pinto P; Gobbo AR; da Costa PF; Salgado CG; Ribeiro-Dos-Santos Â; Cavalcante GC.
Hum Genomics (Unknown)
Published: 2023
5/6 Transparent
Data Code Funding Declared
Triangulating nutrigenomics, metabolomics and microbiomics toward personalized nutrition and healthy living.
Lagoumintzis G; Patrinos GP.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Targeted sequencing of high-density SNPs provides an enhanced tool for forensic applications and genetic landscape expl…
Lan Q; Lin Y; Wang X; Yuan X; Shen C; Zhu B.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Phenome-wide association study on miRNA-related sequence variants: the UK Biobank.
Mustafa R; Ghanbari M; Karhunen V; Evangelou M; Dehghan A.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Dispersed DNA variants underlie hearing loss in South Florida's minority population.
Peart L; Gonzalez J; Morel Swols D; Duman D; Saridogan T; Ramzan M; Zafeer MF; Liu XZ; Eshraghi AA; Hoffer ME; Angeli SI; Bademci G; Blanton S; Smith C; Telischi FF; Tekin M.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023.
Quaio CRDC; Ceroni JRM; Pereira MA; Teixeira ACB; Yamada RY; Cintra VP; Perrone E; De França M; Chen K; Minillo RM; Biondo CA; de Mello MRB; Moura LR; do Nascimento ATB; de Oliveira Pelegrino K; de Lima LB; do Amaral Virmond L; Moreno CA; Prota JRM; de Araujo Espolaor JG; Silva TYT; Moraes GHI; de Oliveira GS; Moura LMS; Caraciolo MP; Guedes RLM; Gretschischkin MC; Chazanas PLN; Nakamura CNI; de Souza Reis R; Toledo CM; Lage FSD; de Almeida GB; do Nascimento Júnior JB; Cardoso MA; de Paula Azevedo V; de Almeida TF; Cervato MC; de Oliveira Filho JB.
Hum Genomics (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
The burden of rare variants in DPYS gene is a novel predictor of the risk of developing severe fluoropyrimidine-related…
De Mattia E; Polesel J; Silvestri M; Roncato R; Scarabel L; Calza S; Spina M; Puglisi F; Toffoli G; Cecchin E.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
The attitude and behaviors of the different spheres of the community of the United Arab Emirates toward the clinical ut…
Rahma AT; Abdullahi AS; Graziano G; Elbarazi I.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Comprehensive analysis of alternative splicing across multiple transcriptomic cohorts reveals prognostic signatures in …
Mou Z; Spencer J; McGrath JS; Harries LW.
Hum Genomics (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
Multidimensional fragmentomic profiling of cell-free DNA released from patient-derived organoids.
Kim J; Hong SP; Lee S; Lee W; Lee D; Kim R; Park YJ; Moon S; Park K; Cha B; Kim JI.
Hum Genomics (Unknown)
Published: 2023
5/6 Transparent
Data Code Funding Declared
Transcriptome driven discovery of novel candidate genes for human neurological disorders in the telomer-to-telomer geno…
Falker-Gieske C.
Hum Genomics (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants.
Lee M; Lui ACY; Chan JCK; Doong PHL; Kwong AKY; Mak CCY; Li RHW; Kan ASY; Chung BHY.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Whole-exome sequencing reveals candidate high-risk susceptibility genes for endometriosis.
Nousiainen S; Kuismin O; Reinikka S; Manninen R; Khamaiseh S; Kuivalainen M; Terho A; Koivurova S; Niinimäki M; Salokas K; Varjosalo M; Ahtikoski A; Bützow R; Lindgren O; Uimari O; Vahteristo P.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
The causal relationship between COVID-19 and seventeen common digestive diseases: a two-sample, multivariable Mendelian…
Wang Z; Zhou H; Zhang S; Wang F; Huang H.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
ANXA1 is identified as a key gene associated with high risk and T cell infiltration in primary sclerosing cholangitis.
Zhang J; Wang H; Liu J; Fu L; Peng S.
Hum Genomics (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach.
Pascual-Alonso A; Xiol C; Smirnov D; Kopajtich R; Prokisch H; Armstrong J.
Hum Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared