Frontiers in Genetics

Editorial

Published on 10 Dec 2024

Editorial: Multi-omic approaches decipher the pathogenesis of nervous system diseases and identify potential therapeutic drugs

in Neurogenomics

Robert Friedman
Yasin Mamatjan
Cuiping Pan
Patrícia Pelufo Silveira
Margarita Zachariou

Frontiers in Genetics

doi 10.3389/fgene.2024.1520148

763 views

Original Research

Published on 10 Dec 2024

Whole-exome sequencing identified a novel heterozygous variant in UBAP2L in a Chinese family with neurodevelopmental disorder characterized by impaired language, behavioral abnormalities, and dysmorphic facies

in Genetics of Common and Rare Diseases

Qi Yang
Qiang Zhang
Xunzhao Zhou
Juntan Feng
Shujie Zhang
Li Lin
Shang Yi
Zailong Qin
Jingsi Luo

Frontiers in Genetics

doi 10.3389/fgene.2024.1503048

1,161 views

Technology and Code

Published on 10 Dec 2024

MMPred: a tool to predict peptide mimicry events in MHC class II recognition

in Computational Genomics

Filippo Guerri
Valentin Junet
Judith Farrés
Xavier Daura

Frontiers in Genetics

doi 10.3389/fgene.2024.1500684

1,282 views

Original Research

Published on 10 Dec 2024

Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance

in Human and Medical Genomics

Amina Kurtovic-Kozaric
Lejla Delalic
Belma Mutapcic
Lejla Comor
Eric Siciliano
Mark J. Kiel

Frontiers in Genetics

doi 10.3389/fgene.2024.1487608

1,568 views

Case Report

Published on 10 Dec 2024

Insights into diagnostic difficulties in spinal muscular atrophy: a Case Report series

in Genetics of Common and Rare Diseases

Kakha Bregvadze
Luka Abashishvili
Nana Nino Tatishvili
Teona Shatirishvili
Ana Bedoshvili
Gocha Chikvinidze
Arndt Rolfs
Volha Skrahina
Tinatin Tkemaladze

Frontiers in Genetics

doi 10.3389/fgene.2024.1502444

1,116 views

Original Research

Published on 10 Dec 2024

DMOIT: denoised multi-omics integration approach based on transformer multi-head self-attention mechanism

in Computational Genomics

Zhe Liu
Taesung Park

Frontiers in Genetics

doi 10.3389/fgene.2024.1488683

1,215 views

Original Research

Published on 09 Dec 2024

Four new genome sequences of the Pallas’s cat (Otocolobus manul): an insight into the patterns of within-species variability

in Evolutionary and Population Genetics

Jana Bubenikova
Martin Plasil
Pamela A. Burger
Petr Horin

Frontiers in Genetics

doi 10.3389/fgene.2024.1463774

922 views

Original Research

Published on 09 Dec 2024

Validation of selection signatures for coat color in the Podolica Italiana gray cattle breed

in Evolutionary and Population Genetics

Silvia Bruno
Giacomo Rovelli
Vincenzo Landi
Fiorella Sbarra
Andrea Quaglia
Fabio Pilla
Emiliano Lasagna
Elena Ciani

Frontiers in Genetics

doi 10.3389/fgene.2024.1453295

1,156 views
1 citation

Original Research

Published on 09 Dec 2024

UDP-glucuronosyltransferases 2A3 as a biomarker for ulcerative colitis and colon cancer

in Genetics of Common and Rare Diseases

Hao Chen

Frontiers in Genetics

doi 10.3389/fgene.2024.1419755

836 views

Brief Research Report

Published on 09 Dec 2024

Gender-specific association of STON2 rs2371597 polymorphism in keratoconus patients of Saudi origin

in Genetics of Common and Rare Diseases

Altaf A. Kondkar
Tahira Sultan
Taif A. Azad
Tanvir Khatlani
Glenn P. Lobo
Hatem Kalantan
Saleh A. Al-Obeidan
Abdulrahman M. Al-Muammar

Frontiers in Genetics

doi 10.3389/fgene.2024.1505629

663 views

Original Research

Published on 09 Dec 2024

AnchorFCI: harnessing genetic anchors for enhanced causal discovery of cardiometabolic disease pathways

in Computational Genomics

Adèle H. Ribeiro
Milena Crnkovic
Jaqueline Lopes Pereira
Regina Mara Fisberg
Flavia Mori Sarti
Marcelo Macedo Rogero
Dominik Heider
Andressa Cerqueira

Frontiers in Genetics

doi 10.3389/fgene.2024.1436947

978 views

Original Research

Published on 09 Dec 2024

Integration of single-cell and bulk analysis reveals TBXAS1 as a key platelet-related gene causing poor prognosis in osteosarcoma

in Cancer Genetics and Oncogenomics

Han Liu
Wacili Da
Jianhua Mu
Xuanhong He
Zhuangzhuang Li
Taojun Gong
Jingjing Wang
Li Min
Minxun Lu
Chongqi Tu

Frontiers in Genetics

doi 10.3389/fgene.2024.1519529

1,077 views
1 citation

Original Research

Published on 09 Dec 2024

Identification of crucial drought-tolerant genes of barley through comparative transcriptomic analysis and yeast-based stress assay

in Genomics of Plants and the Phytoecosystem

Xiaoyan He
Congjun Su
Xinyi Zhang
Zhaoxia Shi
Yanjie Wang
Huandi Peng
Shuying Fang
Xinyu Chen
Huayan Yin
Jianbin Zeng

Frontiers in Genetics

doi 10.3389/fgene.2024.1524118

864 views

Case Report

Published on 06 Dec 2024

Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita

in Genetics of Common and Rare Diseases

Sabrina Lucchiari
Francesco Fortunato
Giovanni Meola
Andrea Mignarri
Serena Pagliarani
Stefania Corti
Giacomo P. Comi
Dario Ronchi

Frontiers in Genetics

doi 10.3389/fgene.2024.1486977

1,071 views

Original Research

Published on 06 Dec 2024

Real-world efficacy and safety of combined first-line treatment with PARP inhibitors and novel hormonal therapy in mCRPC patients with HRR gene mutations

in Cancer Genetics and Oncogenomics

Andong Guo
Chenrui Wu
Jishuang Cao
Kejia Zhu
Sentai Ding

Frontiers in Genetics

doi 10.3389/fgene.2024.1505163

899 views

Original Research

Published on 05 Dec 2024

Metabolic dysfunction-associated steatotic liver disease and gastroesophageal reflux disease: a mendelian randomization study in European and East Asian populations

in Statistical Genetics and Methodology

Chen’guang Su
Zheng Liao
Hewen Li
Yinxuan Pei
Zixiang Wang
Jian Li
Jinlong Liu

Frontiers in Genetics

doi 10.3389/fgene.2024.1428334

1,306 views