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Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders
- Emilie M. Wigdor
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Novel genetic association of the Furin gene polymorphism rs1981458 with COVID-19 severity among Indian populations
- Rudra Kumar Pandey
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| Open AccessUnexpected identification of obesity-associated mutations in LEP and MC4R genes in patients with anorexia nervosa
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Investigating the potential roles of intra-colonial genetic variability in Pocillopora corals using genomics
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Loss-of-function variant in spermidine/spermine N1-acetyl transferase like 1 (SATL1) gene as an underlying cause of autism spectrum disorder
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Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing
- François Lecoquierre
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Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant
- Roberto Ricciardiello
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Validated assays for the quantification of C9orf72 human pathology
- S. E. Salomonsson
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A novel method for detecting nine hotspot mutations of deafness genes in one tube
- Yang Yu
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Effect of Melissa officinalis L. leaf extract on manganese-induced cyto-genotoxicity on Allium cepa L.
- Ünal Üstündağ
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Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population
- Shaoli Sarker
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A missense mutation in Lama3 causes androgen alopecia
- Zhong-Hao Ji
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Genetic determinants of severe COVID-19 in young Asian and Middle Eastern patients: a case series
- Beshr Abdulaziz Badla
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GeneToCN: an alignment-free method for gene copy number estimation directly from next-generation sequencing reads
- Fanny-Dhelia Pajuste
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The epidemiological and genetic characteristics of human parvovirus B19 in patients with febrile rash illnesses in China
- Haoran Jiang
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Remdesivir increases mtDNA copy number causing mild alterations to oxidative phosphorylation
- Nicole DeFoor
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Integrative blood-based characterization of oxidative mitochondrial DNA damage variants implicates Mexican American’s metabolic risk for developing Alzheimer’s disease
- Danielle Marie Reid
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Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria
- Zeinab S. Abdelkhalek
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Mutational landscape of cancer-driver genes across human cancers
- Musalula Sinkala
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| Open AccessThe sequence of the repetitive motif influences the frequency of multistep mutations in Short Tandem Repeats
- Sofia Antão-Sousa
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Revisiting and updating molecular epidemiology of α-thalassemia mutations in Thailand using MLPA and new multiplex gap-PCR for nine α-thalassemia deletion
- Wittaya Jomoui
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Proton and alpha radiation-induced mutational profiles in human cells
- Tiffany M. Delhomme
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| Open AccessThe genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes
- Yating Li
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Mutation analysis of pathogenic non-synonymous single nucleotide polymorphisms (nsSNPs) in WFS1 gene through computational approaches
- Jing Zhao
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Evaluation of autoantibodies to desmoglein-2 in dogs with and without cardiac disease
- Ashley L. Walker
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Germline VWF/MPRIP and somatoplasm FGA variants synergically confer susceptibility to non-traumatic osteonecrosis of the femoral head
- Dawei Wang
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Mutation in Smek2 regulating hepatic glucose metabolism causes hypersarcosinemia and hyperhomocysteinemia in rats
- Yasutake Tanaka
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Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing
- Peggy Reuter
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Single-nuclei transcriptomics enable detection of somatic variants in patient brain tissue
- Sydney E. Townsend
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Quantitative magnetic resonance imaging assessment of muscle composition in myotonic dystrophy mice
- Ariadna Bargiela
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Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness
- Jing Zhao
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CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease
- Shih-hsin Kan
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Echoed induction of nucleotide variants and chromosomal structural variants in cancer cells
- Yusuke Matsuno
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A robust bacterial high-throughput screening system to evaluate single nucleotide polymorphisms of human homogentisate 1,2-dioxygenase in the context of alkaptonuria
- Sien Lequeue
- , Jessie Neuckermans
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Massive expansion of multiple clones in the mouse hematopoietic system long after whole-body X-irradiation
- Kengo Yoshida
- , Yasunari Satoh
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Understanding the genetics of viral drug resistance by integrating clinical data and mining of the scientific literature
- An Goto
- , Raul Rodriguez-Esteban
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Considering epitopes conservity in targeting SARS-CoV-2 mutations in variants: a novel immunoinformatics approach to vaccine design
- Mohammad Aref Bagherzadeh
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PTPRD and CNTNAP2 as markers of tumor aggressiveness in oligodendrogliomas
- Kirsi J. Rautajoki
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Evidence for correlations between BMI-associated SNPs and circRNAs
- Luisa Sophie Rajcsanyi
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No evidence of increased mutations in the germline of a group of British nuclear test veterans
- Alexander J. Moorhouse
- , Martin Scholze
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Mutations in the miR-142 gene are not common in myeloproliferative neoplasms
- Paulina Galka-Marciniak
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Correlations of FRMD7 gene mutations with ocular oscillations
- Lijuan Huang
- , Yunyu Zhou
- & Ningdong Li
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Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases
- Caio Robledo D.’Angioli Costa Quaio
- , Jose Ricardo Magliocco Ceroni
- & Chong Ae Kim
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Pedigree derived mutation rate across the entire mitochondrial genome of the Norfolk Island population
- J. R. Connell
- , M. C. Benton
- & L. R. Griffiths
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VKORC1 mutations in rodent populations of a tropical city-state as an indicator of anticoagulant rodenticide resistance
- Cliff Chua
- , Mahathir Humaidi
- & Joel Aik
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Sunlight, dietary habits, genetic polymorphisms and vitamin D deficiency in urban and rural infants of Bangladesh
- Subhasish Das
- , Md. Mehedi Hasan
- & Tahmeed Ahmed
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Accurate and rapid prediction of tuberculosis drug resistance from genome sequence data using traditional machine learning algorithms and CNN
- Xingyan Kuang
- , Fan Wang
- & Robert L. Grossman
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Spontaneous mutation rate estimates for the principal malaria vectors Anopheles coluzzii and Anopheles stephensi
- Iliyas Rashid
- , Melina Campos
- & Gregory C. Lanzaro
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Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss
- Zuzana Pavlenkova
- , Lukas Varga
- & Daniela Gasperikova
Molecular epidemiology and hematological profiles of hemoglobin variants in southern Thailand