Molecular Genetics and Genomics

Papers
(The TQCC of Molecular Genetics and Genomics is 4. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-02-01 to 2025-02-01.)
ArticleCitations
A novel imprinted locus on bovine chromosome 18 homologous with human chromosome 16q24.150
Forensic efficiency and genetic polymorphisms of 12 X-chromosomal STR loci in Northeastern Thai populations45
Genomic characterization of a rare Carica papaya X chromosome mutant reveals a candidate monodehydroascorbate reductase 4 gene involved in all-hermaphrodite phenomenon40
Independent DSG4 frameshift variants in cats with hair shaft dystrophy38
A two-phase comprehensive NSCLC prognostic study identifies lncRNAs with significant main effect and interaction33
Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort26
A novel strategy to map a locus associated with flowering time in canola (Brassica napus L.)25
Mesenchymal stem cells-derived exosomes carrying microRNA-30b confer protection against pulmonary fibrosis by downregulating Runx1 via Spred224
Mapping of dynamic QTLs for resistance to Fusarium wilt (Fusarium oxysporum f. sp. vasinfectum) race 4 in a backcross inbred line population of Upland cotton22
Meiotic behavior, transmission and active genes of B chromosomes in the cichlid Astatotilapia latifasciata: new clues about nature, evolution and maintenance of accessory elements21
Amplicon genome fishing (AGF): a rapid and efficient method for sequencing target cis-regulatory regions in nonmodel organisms20
Deletions in GSN gene associated with growth traits of four Chinese cattle breeds19
Application of the prenatal BACs-on-Beads™ assay for rapid prenatal detection of sex chromosome mosaicism18
A homozygous missense variant in YTHDC2 induces azoospermia in two siblings18
The mechanism of INO80D involved in chromatin remodeling regulating spermatogenesis in Chinese mitten crab (Eriocheir sinensis)17
Revealing diverse alternative splicing variants of the highly homologous SMN1 and SMN2 genes by targeted long-read sequencing16
Single-cell RNA sequencing reveals surface markers of primordial germ cells in chicken and zebra finch16
A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle16
BS-Seq reveals major role of differential CHH methylation during leaf rust resistance in wheat (Triticum aestivum L.)14
A novel cancer-associated fibroblasts risk score model predict survival and immunotherapy in lung adenocarcinoma14
ARNSHL gene identification: past, present and future14
The first maternal genetic study of hunter-gatherers from Vietnam13
Characterization of hAT DNA transposon superfamily in the genome of Neotropical fish Apareiodon sp.13
RNA sequencing reveals a complete picture of a homozygous missense variant in a patient with VPS13D movement disorder: a case report and review of the literature13
Novel cataract-causing variant c.177dupC in c-MAF regulates the expression of crystallin genes for cell apoptosis via a mitochondria-dependent pathway12
Blood transcriptome analysis revealed the immune changes and immunological adaptation of wildness training giant pandas12
Differentially used codons among essential genes in bacteria identified by machine learning-based analysis12
The maternal ancestry of the Kavaratti islanders and the last glacial maximum aftermath12
Genomic region and origin for selected traits during differentiation of small-fruit cultivars in Japanese apricot (Prunus mume)12
A meta-analysis of different von Hippel Lindau mutations: are they related to retinal capillary hemangioblastoma?12
Genomics-based analysis of four porcine-derived lactic acid bacteria strains and their evaluation as potential probiotics11
Pps1, phosphatidylserine synthase, regulates the salt stress response in Schizosaccharomyces pombe11
Characterization and diversity of CRISPR/Cas systems in Klebsiella oxytoca11
Genetic analysis based on 15 autosomal short tandem repeats (STRs) in the Chaouia population, western center Morocco, and genetic relationships with worldwide populations11
Interaction network among factors involved in heterocyst-patterning in cyanobacteria11
Tomatidine activates autophagy to improve lung injury and inflammation in sepsis by inhibiting NF-κB and MAPK pathways11
Association investigations between ACE1 and ACE2 polymorphisms and severity of COVID-19 disease11
Transcriptome and metabolome profiling in different stages of infestation of Eucalyptus urophylla clones by Ralstonia solanacearum10
Analysis of TSC1 and TSC2 genes and evaluation of phenotypic correlations with tuberous sclerosis10
Causal associations of waist circumference and waist-to-hip ratio with type II diabetes mellitus: new evidence from Mendelian randomization10
Genetic analysis of patients with low-frequency non-syndromic hearing loss10
EMP1 correlated with cancer progression and immune characteristics in pan-cancer and ovarian cancer10
Different scales of gene duplications occurring at different times have jointly shaped the NBS-LRR genes in Prunus species10
Integrated analysis of miRNA and mRNA transcriptomic reveals antler growth regulatory network10
Dimorphic frataxin and its gene regulation by sex steroids in hamsters9
High level of somatic mutations detected in a diploid banana wild relative Musa basjoo9
Full-length transcriptome characterization and analysis of Carrizo Citrange and molecular insights into pathogen defense9
From cactus to crop: genomic insights of a beneficial and non-pathogenic Curtobacterium flaccumfaciens strain and the evolution of its pathosystem9
Improving the accuracy of genomic predictions in an outcrossing species with hybrid cultivars between heterozygote parents: a case study of oil palm (Elaeis guineensis Jacq.)9
A survey of transcriptome complexity using full-length isoform sequencing in the tea plant Camellia sinensis9
Sequence and functional analysis of MIR319 promoter homologs from Brassica juncea reveals regulatory diversification and altered expression under stress9
Comprehensive bioinformatics analyses reveal immune genes responsible for altered immune microenvironment in intervertebral disc degeneration9
The influence of VDR polymorphisms on the type 2 diabetes susceptibility in Chinese: an interaction with hypertriglyceridemia9
Natural variation and genetic loci underlying resistance to grain shattering in standing crop of modern wheat9
Whole-genome sequence and mass spectrometry study of the snow blight fungus Phacidium infestans (Karsten) DSM 5139 growing at freezing temperatures8
The genomic history of southwestern Chinese populations demonstrated massive population migration and admixture among proto-Hmong–Mien speakers and incoming migrants8
Phenotypic simulation for fruit-related traits in F1 progenies of chili peppers (Capsicum annuum) using genomic prediction based solely on parental information8
Distinct role of HAMP and HAMP-like linker domains in regulating the activity of Hik1p, a hybrid histidine kinase 3 from Magnaporthe oryzae8
Selection signatures for heat tolerance in Brazilian horse breeds8
Correction: Genetic evidence for a single founding population of the Lakshadweep Islands8
Characterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk8
Regulation of PPARγ/CPT-1 expression ameliorates cochlear hair cell injury by regulating cellular lipid metabolism and oxidative stress8
Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations8
Genetic evidence for a single founding population of the Lakshadweep Islands8
Correction to: XG-PseU: an eXtreme Gradient Boosting based method for identifying pseudouridine sites8
CACNA1H restrains chemotherapy resistance in ovarian clear cell carcinoma cells by repressing autophagy7
Genetic diversity and population genetic structure analysis of an extensive collection of wild and cultivated Vigna accessions7
NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes7
Mutational investigation of 17 causative genes in a cohort of 113 families with nonsyndromic early-onset high myopia in northwestern China7
Construction of a high-density genetic map using specific-length amplified fragment markers and identification of QTLs for branching angle in poplar7
The heat stress transcription factor family in Aegilops tauschii: genome-wide identification and expression analysis under various abiotic stresses and light conditions7
Whole-genome sequencing unravels novel genetic determinants and regulatory pathways associated with triamcinolone acetonide-induced ocular hypertension7
Genetic dissection of flowering time in flax (Linum usitatissimum L.) through single- and multi-locus genome-wide association studies7
Identification of potential microRNAs regulating metabolic plasticity and cellular phenotypes in glioblastoma7
Characterization and clinical relevance of PDGFRA pathway copy number variation gains across human cancers7
A new linear combination method of haplogroup distribution central vectors to model population admixtures6
Identification and functional analysis of two GJA8 variants in Chinese families with eye anomalies6
Identification and mechanism determination of the efflux pump subunit amrB gene mutations linked to gentamicin susceptibility in clinical Burkholderia pseudomallei from Malaysian Borneo6
Evaluation and genome-wide association study of resistance to bacterial blight race 18 in U.S. Upland cotton germplasm6
Genome-wide association study reveals novel loci and a candidate gene for resistance to frogeye leaf spot (Cercospora sojina) in soybean6
Identification of potential MTAs and candidate genes for juice quality- and yield-related traits in Saccharum clones: a genome-wide association and comparative genomic study6
Enhanced SA and Ca2+ signaling results in PCD-mediated spontaneous leaf necrosis in wheat mutant wsl6
Novel MEI1 mutations cause chromosomal and DNA methylation abnormalities leading to embryonic arrest and implantation failure6
De novo assembly of the complete mitochondrial genome of Mycetophylax simplex Emery, 1888 through organelle targeting revels no substantial expansion of gene spacers, but rather some slightly shorter 6
Predisposition to atrioventricular septal defects may be caused by SOX7 variants that impair interaction with GATA46
Construction of circRNA-related ceRNA networks in longissimus dorsi muscle of Queshan Black and Large White pigs6
The formation of proto-austronesians: insights from a revised phylogeography of the paternal founder lineage6
Super enhancer loci of EGFR regulate EGFR variant 8 through enhancer RNA and strongly associate with survival in HNSCCs6
Diagnostic, grading and prognostic role of a restricted miRNAs signature in primary and metastatic brain tumours. Discussion on their therapeutic perspectives5
Genome-wide identification of the key kinesin genes during fiber and boll development in upland cotton (Gossypium hirsutum L.)5
Small RNA sequencing and identification of papaya (Carica papaya L.) miRNAs with potential cross-kingdom human gene targets5
Potential molecular patterns for tuberculosis susceptibility in diabetic patients with poor glycaemic control: a pilot study5
Characterizing identity by descent segments in Chinese interpopulation unrelated individual pairs5
Dynamic physiological and transcriptome changes reveal a potential relationship between the circadian clock and salt stress response in Ulmus pumila5
Introduction of a diverse genetic background of Pyrus into Malus through intergeneric hybridization5
Inheritance and molecular mapping of solitary/cluster fruit-bearing habit in Luffa5
Four classic “de novo” genes all have plausible homologs and likely evolved from retro-duplicated or pseudogenic sequences5
RWSF-BLP: a novel lncRNA-disease association prediction model using random walk-based multi-similarity fusion and bidirectional label propagation5
Unravelling epigenetic mechanisms in Cerastoderma edule genome: a comparison of healthy and neoplastic cockles5
Diversity and potential functional role of phyllosphere-associated actinomycetota isolated from cupuassu (Theobroma grandiflorum) leaves: implications for ecosystem dynamics and plant defense strategi5
Functional testing for variant prioritization in a family with long QT syndrome5
CircSSBP2 acts as a MiR-2400 sponge to promote intramuscular preadipocyte proliferation by regulating NDRG15
The signaling pathway of levamisole-sensitive-acetylcholine receptors involved in short-term forgetting of Caenorhabditis elegans5
GWAS scans of cereal cyst nematode (Heterodera avenae) resistance in Indian wheat germplasm5
The comparative studies of complete chloroplast genomes in Actinidia (Actinidiaceae): novel insights into heterogenous variation, clpP gene annotation and phylogenetic relationships5
In vitro characterization of the site-specific recombination system based on genus Habenivirus ϕRSM small serine integrase5
The SWI/SNF subunit BRG1 affects alternative splicing by changing RNA binding factor interactions with nascent RNA5
A computational approach to biological pathogenicity5
Prenatal trio-based whole exome sequencing in fetuses with abnormalities of the skeletal system4
SLC10A1 rs2296651 variant (S267F mutation) predicts biochemical traits, hepatitis B virus infection susceptibility and the risk of gallstone disease4
Identification of soybean mosaic virus strain SC7 resistance loci and candidate genes in soybean [Glycine max (L.) Merr.]4
Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype4
SoxB family genes delay regeneration and cause abnormal movement in Dugesia japonica4
Cloning and in silico characterization of cinnamyl alcohol dehydrogenase gene involved in lignification of Tall fescue (Festuca arundinacea Schreb.)4
Microbial community structure and exploration of bioremediation enzymes: functional metagenomics insight into Arabian Sea sediments4
Single- and multi-trait genomic prediction and genome-wide association analysis of grain yield and micronutrient-related traits in ICARDA wheat under drought environment4
Epigenetic inactivation of DNA repair genes as promising prognostic and predictive biomarkers in urothelial bladder carcinoma patients4
Novel mutation in LRP5 gene cause rare osteosclerosis: cases studies and literature review4
Phylogenomics, CAZyome and core secondary metabolome of Streptomyces albus species4
Genetic variability of 23 autosomal STRs in Austroasiatic-speaking populations from Thailand4
A female carrier of a novel DMD mutation with slightly skewed X-chromosome inactivation shows a suspected case of Becker muscular dystrophy in a Chinese family4
A comparative study of population genetic structure reveals patterns consistent with selection at functional microsatellites in common sunflower4
Using whole exome sequencing to identify susceptibility genes associated with nonsyndromic cleft lip with or without cleft palate4
Understanding the genomic selection for crop improvement: current progress and future prospects4
Correction to: Profiling transcriptomic changes and signaling pathways in atopic dermatitis 2 by integrative analyses on multiple databases4
QTL mapping and candidate gene prediction for fiber yield and quality traits in a high-generation cotton chromosome substitution line with Gossypium barbadense segments4
Development and validation of allele-specific PCR-based SNP typing in a gene on chromosome D03 conferring resistance to Fusarium wilt race 4 in Upland cotton (Gossypium hirsutum)4
Genome resequencing-based high-density genetic map and QTL detection for yield and fiber quality traits in diploid Asiatic cotton (Gossypium arboreum)4
Robust regression based genome-wide multi-trait QTL analysis4
Clinical significance of SPOP and APC gene alterations in colorectal cancer in Indian population4
Genome sequence analysis and characterization of Bacillus altitudinis B12, a polylactic acid- and keratin-degrading bacterium4
Construction of immune-related gene pairs signature to predict the overall survival of multiple myeloma patients based on whole bone marrow gene expression profiling4
Genomic insights into the molecular mechanisms of a Pseudomonas strain significant in its survival in Kongsfjorden, an Arctic fjord4
Population genetic analyses of Eastern Chinese Han nationality using ForenSeq™ DNA Signature Prep Kit4
Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants4
Microbial community composition associated with early developmental stages of the Indian white shrimp, Penaeus indicus4
Genome mining, antimicrobial and plant growth-promoting potentials of halotolerant Bacillus paralicheniformis ES-1 isolated from salt mine4
Phylogenomic analysis of the Erwiniaceae supports reclassification of Kalamiella piersonii to Pantoea piersonii comb. nov. and Erwinia gerundensis to the new genus Duffyella gen. nov. as Duffyella ger4
In silico analysis of a novel pathogenic variant c.7G > A in C14orf39 gene identified by WES in a Pakistani family with azoospermia4
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