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| Open AccessArtificial intelligence-based clustering and characterization of Parkinson's disease trajectories
- Colin Birkenbihl
- , Ashar Ahmad
- & Holger Fröhlich
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| Open AccessImpact of gene alterations on clinical outcome in young adults with myelodysplastic syndromes
- Tatsuya Konishi
- , Daichi Sadato
- & Noriko Doki
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| Open AccessGenetic predisposition to smoking in relation to the risk of frailty in ageing
- Wei Liu
- , Hong Yang
- & Yingying Mao
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| Open AccessEvaluation of the portability of computable phenotypes with natural language processing in the eMERGE network
- Jennifer A. Pacheco
- , Luke V. Rasmussen
- & WeiQi Wei
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| Open AccessInfluence of variability in the cyclooxygenase pathway on cardiovascular outcomes of nephrosclerosis patients
- Luz M. González
- , Nicolás R. Robles
- & Guillermo Gervasini
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| Open AccessSocial feedback enhances learning in Williams syndrome
- Johan Lundin Kleberg
- , Charlotte Willfors
- & Claes Strannegård
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| Open AccessIn situ transduction of cells in human corneal limbus using adeno-associated viruses: an ex vivo study
- Hyeck-Soo Son
- , Albert S. Jun
- & Madhuparna Roy
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| Open AccessMutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness
- Jing Zhao
- , Siqi Zhang
- & QingWen Zhu
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| Open AccessCRISPR-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
- , Jeffrey Y. Huang
- & Raymond Y. Wang
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| Open AccessExploration of the relationship between gut microbiota and fecal microRNAs in patients with major depressive disorder
- Hui-Mei Chen
- , Yu-Chu Ella Chung
- & Po-Hsiu Kuo
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| Open AccessOptogenetic restoration of high sensitivity vision with bReaChES, a red-shifted channelrhodopsin
- Lay Khoon Too
- , Weiyong Shen
- & Matthew P. Simunovic
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| Open AccessPolygenic Health Index, General Health, and Pleiotropy: Sibling Analysis and Disease Risk Reduction
- Erik Widen
- , Louis Lello
- & Stephen D. H. Hsu
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| Open AccessDifferences in stromal component of chordoma are associated with contrast enhancement in MRI and differential gene expression in RNA sequencing
- Mina Park
- , Inho Park
- & Yoon Jin Cha
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| Open AccessA resource for integrated genomic analysis of the human liver
- Yi-Hui Zhou
- , Paul J. Gallins
- & Federico Innocenti
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| Open AccessIntronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset
- Frances Theunissen
- , Ryan S. Anderton
- & P. Anthony Akkari
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| Open AccessWhole-exome analysis of 177 pediatric patients with undiagnosed diseases
- Kotaro Narita
- , Hideki Muramatsu
- & Yoshiyuki Takahashi
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| Open AccessThymocyte regulatory variant alters transcription factor binding and protects from type 1 diabetes in infants
- Niina Sandholm
- , Arcadio Rubio García
- & John A. Todd
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| Open AccessAssessing agreement between different polygenic risk scores in the UK Biobank
- Lei Clifton
- , Jennifer A. Collister
- & David J. Hunter
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| Open AccessGenetic polymorphisms in TLR3, IL10 and CD209 influence the risk of BK polyomavirus infection after kidney transplantation
- Natalia Redondo
- , Isabel Rodríguez-Goncer
- & Mario Fernández-Ruiz
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| Open AccessVariation of genes encoding nitric oxide synthases and antioxidant enzymes as potential risks of multiple sclerosis development: a preliminary study
- Paulina Wigner
- , Angela Dziedzic
- & Joanna Saluk-Bijak
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Article
| Open AccessAbsence of causal association between Vitamin D and bone mineral density across the lifespan: a Mendelian randomization study
- Yanchao Tang
- , Feng Wei
- & Xiaoguang Liu
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| Open AccessPresence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19
- Rosario López-Rodríguez
- , Marta Del Pozo-Valero
- & Carmen Ayuso
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| Open AccessGut mucosa dissociation protocols influence cell type proportions and single-cell gene expression levels
- Werna T. C. Uniken Venema
- , Aarón D. Ramírez-Sánchez
- & Monique G. P. van der Wijst
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| Open AccessA high-throughput study of visceral organs in CT-scanned pigs
- Øyvind Nordbø
- , Rune Sagevik
- & Eli Grindflek
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Article
| Open AccessUsing generative adversarial networks for genome variant calling from low depth ONT sequencing data
- Han Yang
- , Fei Gu
- & Xian-Sheng Hua
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| Open AccessDifferent DNA methylome, transcriptome and histological features in uterine fibroids with and without MED12 mutations
- Ryo Maekawa
- , Shun Sato
- & Norihiro Sugino
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| Open AccessAlteration in DNA-binding affinity of Wilms tumor 1 protein due to WT1 genetic variants associated with steroid - resistant nephrotic syndrome in children
- Martin Bezdicka
- , Filip Kaufman
- & Ondrej Soucek
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| Open AccessThe T allele of TCF7L2 rs7903146 is associated with decreased glucose tolerance after bed rest in healthy older adults
- Jean L. Fry
- , Brooke D. Munson
- & Emily J. Arentson-Lantz
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| Open AccessClinical and genetic features of a cohort of patients with MFN2-related neuropathy
- Elena Abati
- , Arianna Manini
- & Stefania Corti
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| Open AccessUp-regulation of ST18 in pemphigus vulgaris drives a self-amplifying p53-dependent pathomechanism resulting in decreased desmoglein 3 expression
- Sari Assaf
- , Dan Vodo
- & Eli Sprecher
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| Open AccessMultivariate genomic and transcriptomic determinants of imaging-derived personalized therapeutic needs in Parkinson’s disease
- Christophe Lenglos
- , Sue-Jin Lin
- & Yasser Iturria-Medina
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| Open AccessCollective effects of human genomic variation on microbiome function
- Felicia N. New
- , Benjamin R. Baer
- & Ilana L. Brito
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| Open AccessUnveiling genetic variants for age-related sarcopenia by conducting a genome-wide association study on Korean cohorts
- Heejin Jin
- , Hyun Ju Yoo
- & Je Hyun Seo
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| Open AccessAllele-specific transcription factor binding in a cellular model of orofacial clefting
- Katharina L. M. Ruff
- , Ronja Hollstein
- & Kerstin U. Ludwig
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Article
| Open AccessEvaluation of epigenetic age calculators between preeclampsia and normotensive pregnancies in an Australian cohort
- Paulina Pruszkowska-Przybylska
- , Shaun Brennecke
- & Phillip E. Melton
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Article
| Open AccessGenome and transcriptome profiling of spontaneous preterm birth phenotypes
- Juhi K. Gupta
- , Angharad Care
- & Ana Alfirevic
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| Open AccessPhenotype–genotype correlation in patients with typical and atypical branchio-oto-renal syndrome
- Masatsugu Masuda
- , Ayako Kanno
- & Tatsuo Matsunaga
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| Open AccessSimple and rapid detection of common fetal aneuploidies using peptide nucleic acid probe-based real-time polymerase chain reaction
- Subeen Hong
- , Seung Mi Lee
- & Joong Shin Park
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| Open AccessThe minor T allele of the MUC5B promoter rs35705950 associated with susceptibility to idiopathic pulmonary fibrosis: a meta-analysis
- Xiaozheng Wu
- , Wen Li
- & Yunzhi Chen
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| Open AccessCircular RNA mediated gene regulation in chronic diabetic complications
- Nikhil S. Patil
- , Biao Feng
- & Subrata Chakrabarti
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| Open AccessMacular thickness varies with age-related macular degeneration genetic risk variants in the UK Biobank cohort
- Rebecca A. Kaye
- , Karina Patasova
- & Andrew J. Lotery
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| Open AccessThe strong correlation between ADAM33 expression and airway inflammation in chronic obstructive pulmonary disease and candidate for biomarker and treatment of COPD
- Muhammad Fachri
- , Mochammad Hatta
- & Muhammad Sabir
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| Open AccessComprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss
- Zuzana Pavlenkova
- , Lukas Varga
- & Daniela Gasperikova
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| Open AccessThe total and direct effects of systolic and diastolic blood pressure on cardiovascular disease and longevity using Mendelian randomisation
- Io Ieong Chan
- , Man Ki Kwok
- & C. Mary Schooling
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| Open AccessPrediction of primary venous thromboembolism based on clinical and genetic factors within the U.K. Biobank
- David A. Kolin
- , Scott Kulm
- & Olivier Elemento
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| Open AccessInsights into phenotypic differences between humans and mice with p.T721M and other C-terminal variants of the SLC26A4 gene
- Chin-Ju Hu
- , Ying-Chang Lu
- & Chen-Chi Wu
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| Open AccessNR4A2 expression is not altered in placentas from cases of growth restriction or preeclampsia, but is reduced in hypoxic cytotrophoblast
- Natasha de Alwis
- , Sally Beard
- & Natalie J. Hannan
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| Open AccessPolymorphism of the ITGAM gene (rs7193943) and bioelectric impedance analysis as potential predictors of cachexia in chronic heart failure
- Grzegorz Sobieszek
- , Radosław Mlak
- & Teresa Małecka-Massalska
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| Open AccessA genome-wide association study identifies a novel candidate locus at the DLGAP1 gene with susceptibility to resistant hypertension in the Japanese population
- Yasuo Takahashi
- , Keiko Yamazaki
- & Satoshi Asai