Online first articles
Articles not assigned to an issue 33 articles
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Integrative regulation of hLMR1 by dietary and genetic factors in nonalcoholic fatty liver disease and hyperlipidemia
Authors (first, second and last of 4)
- Marcos E Jaso-Vera
- Shohei Takaoka
- Xiangbo Ruan
- Content type: Original Investigation
- Published: 17 March 2024
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Novel compound heterozygous variants in FANCI cause premature ovarian insufficiency
Authors (first, second and last of 10)
- Lili Cao
- Xinmiao He
- Yajuan Yang
- Content type: Original Investigation
- Published: 14 March 2024
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PdmIRD: missense variants pathogenicity prediction for inherited retinal diseases in a disease-specific manner
Authors (first, second and last of 5)
- Bing Zeng
- Dong Cheng Liu
- Bo Qin
- Content type: Original Investigation
- Published: 13 March 2024
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STEAP3 promotes colon cancer cell proliferation and migration via regulating histone acetylation
Authors (first, second and last of 9)
- Jinjuan Lv
- Xiaoqian Liu
- Yunfei Zuo
- Content type: Original Investigation
- Published: 13 March 2024
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PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss
Authors (first, second and last of 17)
- Shelby E. Redfield
- Pedro De-la-Torre
- Barbara Vona
- Content type: Original Investigation
- Open Access
- Published: 09 March 2024
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Trisomy silencing by XIST: translational prospects and challenges
Authors
- Khusali Gupta
- Jan T. Czerminski
- Jeanne B. Lawrence
- Content type: Review
- Open Access
- Published: 09 March 2024
This is part of 1 collection: -
Clinical and genetic architecture of a large cohort with auditory neuropathy
Authors (first, second and last of 21)
- Hongyang Wang
- Liping Guan
- Qiuju Wang
- Content type: Original Investigation
- Open Access
- Published: 08 March 2024
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Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects
Authors (first, second and last of 4)
- Elias Oxman
- Huili Li
- Irene E. Zohn
- Content type: Original Investigation
- Open Access
- Published: 07 March 2024
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Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies
Authors (first, second and last of 23)
- Daniel Brooks
- Elizabeth Burke
- Lindsay C. Burrage
- Content type: Original Investigation
- Published: 07 March 2024
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Functional categorization of gene regulatory variants that cause Mendelian conditions
Authors
- Y. H. Hank Cheng
- Stephanie C. Bohaczuk
- Andrew B. Stergachis
- Content type: Review
- Open Access
- Published: 04 March 2024
This is part of 2 collections: -
The relationship between extreme inter-individual variation in macrophage gene expression and genetic susceptibility to inflammatory bowel disease
Authors (first, second and last of 9)
- Claire L. O’Brien
- Kim M. Summers
- Paul Pavli
- Content type: Original Investigation
- Open Access
- Published: 29 February 2024
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Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37
Authors (first, second and last of 6)
- Marina Sanchez-Flores
- Marc Corral-Juan
- Antoni Matilla-Dueñas
- Content type: Original Investigation
- Open Access
- Published: 23 February 2024
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Bayesian network-based Mendelian randomization for variant prioritization and phenotypic causal inference
Authors (first, second and last of 8)
- Jianle Sun
- Jie Zhou
- Yue Zhang
- Content type: Original Investigation
- Published: 21 February 2024
This is part of 1 collection: -
Identification of TACSTD2 as novel therapeutic targets for cisplatin-induced acute kidney injury by multi-omics data integration
Authors (first, second and last of 6)
- Zebin Deng
- Zheng Dong
- Fei Deng
- Content type: Original Investigation
- Published: 18 February 2024
This is part of 1 collection: -
Bi-allelic missense variants in MEI4 cause preimplantation embryonic arrest and female infertility
Authors (first, second and last of 17)
- Zhiqi Pan
- Weijie Wang
- Biaobang Chen
- Content type: Original Investigation
- Published: 22 January 2024
This is part of 1 collection: -
Exploring the effects of missense mutations on protein thermodynamics through structure-based approaches: findings from the CAGI6 challenges
Authors
- Carlos H. M. Rodrigues
- Stephanie Portelli
- David B. Ascher
- Content type: Short Communication
- Open Access
- Published: 16 January 2024
This is part of 1 collection: -
Predicting the impact of rare variants on RNA splicing in CAGI6
Authors (first, second and last of 27)
- Jenny Lord
- Carolina Jaramillo Oquendo
- Diana Baralle
- Content type: Original Investigation
- Open Access
- Published: 03 January 2024
This is part of 1 collection: -
Impact of calmodulin missense variants associated with congenital arrhythmia on the thermal stability and the degree of unfolding
Authors (first, second and last of 4)
- Giuditta Dal Cortivo
- Valerio Marino
- Daniele Dell’Orco
- Content type: Short Communication
- Published: 28 December 2023
This is part of 1 collection: -
Regulation potential of transcribed simple repeated sequences in developing neurons
Authors
- Tek Hong Chung
- Anna Zhuravskaya
- Eugene V. Makeyev
- Content type: Original Investigation
- Open Access
- Published: 28 December 2023
This is part of 1 collection: -
Protein-centric omics integration analysis identifies candidate plasma proteins for multiple autoimmune diseases
Authors (first, second and last of 8)
- Yingxuan Chen
- Shuai Liu
- Zhongshang Yuan
- Content type: Original Investigation
- Open Access
- Published: 24 December 2023
This is part of 1 collection: -
An emerging link between lncRNAs and cancer sex dimorphism
Authors (first, second and last of 5)
- Ikrame Naciri
- Maria D. Andrade-Ludena
- Sha Sun
- Content type: Review
- Open Access
- Published: 14 December 2023
This is part of 1 collection: -
Plasma-derived exosomal miRNA profiles reveal potential epigenetic pathogenesis of premature ovarian failure
Authors (first, second and last of 8)
- Jiaqiong Lin
- Zhihong Wu
- Fu Xiong
- Content type: Original Investigation
- Published: 06 December 2023
This is part of 1 collection: -
Long noncoding RNAs as versatile molecular regulators of cellular stress response and homeostasis
Authors
- Julia Scholda
- Thi Thuy Anh Nguyen
- Florian Kopp
- Content type: Review
- Open Access
- Published: 02 October 2023
This is part of 1 collection: -
N6-methyladenosine modified lncRNAs signature for stratification of biochemical recurrence in prostate cancer
Authors (first, second and last of 14)
- Yingke Liang
- Wenjun Yin
- Jianming Lu
- Content type: Original Investigation
- Published: 27 September 2023
This is part of 1 collection: -
Non-coding RNAs as skin disease biomarkers, molecular signatures, and therapeutic targets
Authors (first, second and last of 4)
- Andrea Roso-Mares
- Isabel Andújar
- Bryan K. Sun
- Content type: Review
- Published: 14 August 2023
This is part of 1 collection: -
The omics era: a nexus of untapped potential for Mendelian chromatinopathies
Authors
- Aileen A. Nava
- Valerie A. Arboleda
- Content type: Review
- Open Access
- Published: 28 April 2023
This is part of 2 collections: -
H2A monoubiquitination: insights from human genetics and animal models
Authors (first, second and last of 5)
- Charles W. Ryan
- Emily R. Peirent
- Stephanie L. Bielas
- Content type: Review
- Published: 22 April 2023
This is part of 2 collections: -
DNA methylation signatures for chromatinopathies: current challenges and future applications
Authors (first, second and last of 4)
- Zain Awamleh
- Sarah Goodman
- Rosanna Weksberg
- Content type: Perspective
- Open Access
- Published: 06 April 2023
This is part of 2 collections: -
Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?
Authors (first, second and last of 6)
- Jacqueline R. Harris
- Christine W. Gao
- Jill A. Fahrner
- Content type: Original Investigation
- Published: 23 March 2023
This is part of 2 collections: -
Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteins
Authors
- Kelly E. Regan-Fendt
- Kosuke Izumi
- Content type: Review
- Published: 16 March 2023
This is part of 2 collections: -
Histone 3.3-related chromatinopathy: missense variants throughout H3-3A and H3-3B cause a range of functional consequences across species
Authors (first, second and last of 4)
- Laura Bryant
- Annabel Sangree
- Elizabeth Bhoj
- Content type: Review
- Published: 03 March 2023
This is part of 2 collections: -
Interpreting variants in genes affected by clonal hematopoiesis in population data
Authors
- Sanna Gudmundsson
- Colleen M. Carlston
- Anne O’Donnell-Luria
- Content type: Review
- Published: 04 February 2023
This is part of 2 collections:
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