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Frontiers in Genetics

IF2.8
Papers1398
Citations44315
Journal Papers 1310
Publication Date
Rare missense variants in NECTIN1 alter local protein structure and may contribute to non-syndromic cleft lip with or without palate
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deleteAL Ana Luiza Meneguci Moreira Franco; DA Deborah Antunes; AC Ana Carolina Proença da Fonseca; AC Ana Clara Rodrigues Moreira Gomes; AC Ana Carolina Ramos Guimarães; IM Ieda Maria Orioli; FM Flavia Martinez de Carvalho
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Sex-dependent prediction of autism
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deleteCJ Catriona J. Miller; TP Theo Portlock; DM Denis M. Nyaga; JM Justin M. O’Sullivan
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Benchmarking of Oxford Nanopore whole genome sequencing for germline variant and CpG methylation detection across Canada’s national platform for genome sequencing and analysis
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deleteJH Jose Hector Galvez; SM Scott Mastromatteo; KO Kieran O’Neill; RE Robert Eveleigh; HD Haig Djambazian; BT Bhooma Thiruvahindrapuram; EC Eric Chuah; SC Shu-Huang Chen; AH Amirhossein Hajianpour; ZW Zhuozhi Wang; TA Tara A. Paton; SD Sachin Desai; SP Sanjeev Pullenayegum; LH Lan He; PP Pawan Pandoh; YZ Yongjun Zhao; KM Karen Mungall; AJ Andrew J. Mungall; RF Richard F. Wintle; GB Guillaume Bourque; SW Stephen W. Scherer; SJ Steven Jones; ML Mark Lathrop; MM Meredith McLaren; JR Jiannis Ragoussis
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PySimi: a unified framework for similarity measure evaluation in spectral clustering with applications to omics data
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deleteTS Tianyi Shi; XY Xiucai Ye; ZZ Zeng Zou; WX Wenyu Xi; TS Tetsuya Sakurai
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OtoVCE: a mechanism-aware language-model evidence layer for hereditary hearing-loss variant interpretation
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deleteSY Shaopei Ye † ‡; LW Lan Wang ‡; PC Peng Chen †
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SEPTIN9 R106W in a Chinese family with hereditary neuralgic amyotrophy: phenotypic heterogeneity and rehabilitation in a pediatric case
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deleteJC Jing Chen †; SC Shuang Chen †; XZ Xin-yi Zhu †; WS Wei Su; WZ Wen-Han Zhang; DG Dan Gao; ZL Zhi-sheng Liu; JL Jing-jing Li; HZ Hong-min Zhu
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Machine learning-based identification of hub genes and prognostic biomarkers in prostate cancer
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deleteGC Guquan Chen; JZ Jiefeng Zhang; LZ Linfu Zhao; JZ Jianyou Zhu
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Editorial: Cancer cell metabolism and tumor microenvironment remodel
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deleteKY Katsuhiro Yoshimura; DB Daniela B. Rodriguez-Perera; RD Rongzhang Dou; JF Johannes Fahrmann
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Clinical application of long-read sequencing in newborn genetic screening for congenital adrenal hyperplasia
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deletePZ Peiran Zhao †; XQ Xiaolong Qiu †; QL Qingying Lin; TH Ting Huang; YZ Yinglin Zeng; JZ Jinfu Zhou; LX Liangpu Xu
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A novel TRPC6 variant (c.131C>T; p.(Pro44Leu)) associated with focal segmental glomerulosclerosis: a case report
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deleteFY Fan Yang; XW Xiaoqi Wang; YL Yan Li; KS Kaijie Su; RD Ran Ding; LW Linlin Wu; GM Guorong Ma; JY Jianjie Yang; ZL Zhongxin Li
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Transcriptomic landscape of human circular RNAs: unveiling molecular mechanisms in high-altitude adaptation
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deleteBB Buhe Bao †; MY Mingxuan Yu †; WP Wei Pang †; RW Ruilin Wang; WD Wenbin Dong; YB Ying Bai; RS Rui Shi ‡; RW Renjie Wang ‡
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From markers to mechanisms: a comprehensive review of major genes and quantitative trait loci shaping the modern sheep (Ovis aries)
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deleteMG Mostafa Ghaderi-Zefrehei; EN Effat Nasre Esfahani; HA Hassan Amini Pozveh; MH Mohammadreza Hashemi; PD Parisa Dolati; SZ Sonia Zakizadeh; MM Maryam Montazeri; MM Mustafa Muhaghegh Dolatabady; IG Ikhide Godwin Imumorin; MH Mohammad Hossein Banabazi
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Preimplantation genetic testing and prenatal diagnosis of TANGO2 deficiency disorder with biallelic pathogenic variants using single-nucleotide polymorphism-based haplotyping and gap-polymerase chain reaction
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deleteWK Wanna Ke †; XW Xiaojun Wen †; ZO Zhanhui Ou; XF Xiaowu Fang; JH Junye Huo; XL Xiufeng Lin; XZ Xubin Zhang; ZL Zhiming Li
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NSF gene variants cause developmental and epileptic encephalopathy 96: expanding genotype and phenotypic spectrum with prenatal-onset features
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deleteQY Qi Yang; ZQ Zailong Qin; JL Jiao Li; QZ Qiang Zhang; XZ Xunzhao Zhou; SY Sheng Yi; SZ Shujie Zhang; WL Weiliang Lu; SY Shang Yi; SH Sheng He; JL Jingsi Luo
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