Frontiers in Genetics

Original Research

Published on 13 Dec 2024

Prenatal diagnosis of a silver-russell syndrome caused by 11p15 duplication and pedigree analysis

Shurong Hong
Hua Wei
Xueyi Zhuang
Weirong Huang
Yu Zhang

Frontiers in Genetics

doi 10.3389/fgene.2024.1465521

2,036 views

Brief Research Report

Published on 12 Dec 2024

Behind the scenes with genomics researchers

Renata Mont’Alverne
Lori Bradford
Cheryl Buckmaster
Graham Strickert
Jason MacLean
Diane Dupont

Frontiers in Genetics

doi 10.3389/fgene.2024.1467404

1,905 views
1 citation

Systematic Review

Published on 12 Dec 2024

Mapping the current status and outlook of research on noonan syndrome over the last 26 years: a bibliometric and visual analysis

Zhengjiu Cui
Yuanyuan Wang
Fei Luo
Juanjuan Diao
Bin Yuan

Frontiers in Genetics

doi 10.3389/fgene.2024.1488425

3,205 views
2 citations

Correction

Published on 12 Dec 2024

Corrigendum: Advances in stem cell therapy for diabetic foot

Yinfeng Xia
Ping Wu
Hong Chen
Zhiyong Chen

Frontiers in Genetics

doi 10.3389/fgene.2024.1520519

1,831 views
1 citation

Review

Published on 11 Dec 2024

Pathogenesis and management of TRPV3-related Olmsted syndrome

Antong Lu
Kezhen Li
Cong Huang
Bo Yu
Weilong Zhong

Frontiers in Genetics

doi 10.3389/fgene.2024.1459109

3,442 views
4 citations

Original Research

Published on 11 Dec 2024

Selection signature analysis reveals genes associated with tail phenotype in sheep

Yunxia Qi
Xiaolong He
Biao Wang
Chaoyun Yang
Lai Da
Bin Liu
Wenguang Zhang
Shaoyin Fu
Yongbin Liu

Frontiers in Genetics

doi 10.3389/fgene.2024.1509177

2,449 views
2 citations

Original Research

Published on 11 Dec 2024

The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin

Dmitrii Subbotin
Sofya Ionova
Andrey Marakhonov
Elena Saifullina
Artem Borovikov
Leila Akhmadeeva
Polina Chausova
Oksana Ryzhkova
Rena Zinchenko
Sergey Kutsev

Frontiers in Genetics

doi 10.3389/fgene.2024.1511304

1,705 views
1 citation

Original Research

Published on 11 Dec 2024

Association between arthropathies and postpartum hemorrhage: a bidirectional Mendelian randomization study

Zhao Wu
Chengyu Yuan
Xue Peng

Frontiers in Genetics

doi 10.3389/fgene.2024.1448754

1,903 views

Original Research

Published on 11 Dec 2024

Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome’s clinical and molecular spectrum through NALCN in-silico structural analysis

Davide Vecchio
Marina Macchiaiolo
Michaela V. Gonfiantini
Filippo M. Panfili
Francesco Petrizzelli
Niccolò Liorni
Fabiana Cortellessa
Lorenzo Sinibaldi
Ippolita Rana
Emanuele Agolini

Frontiers in Genetics

doi 10.3389/fgene.2024.1477940

3,258 views
2 citations

Original Research

Published on 11 Dec 2024

The complete chloroplast genome of Illicium verum and comparative analysis with related species from Magnoliaceae and Illiciaceae

Yingying Cao
Yongxing Lai
Zhuxin Li
Shanshan Zhai
Yinghan Dai
Junyu Tao
Qing Wang
Ziheng Xu
Minjie Jiang
Li Yu

Frontiers in Genetics

doi 10.3389/fgene.2024.1452680

1,854 views
2 citations

Editorial

Published on 10 Dec 2024

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

Robert Friedman
Yasin Mamatjan
Cuiping Pan
Patrícia Pelufo Silveira
Margarita Zachariou

Frontiers in Genetics

doi 10.3389/fgene.2024.1520148

1,822 views

Technology and Code

Published on 10 Dec 2024

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

Filippo Guerri
Valentin Junet
Judith Farrés
Xavier Daura

Frontiers in Genetics

doi 10.3389/fgene.2024.1500684

2,819 views
1 citation

Original Research

Published on 10 Dec 2024

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

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

Frontiers in Genetics

doi 10.3389/fgene.2024.1487608

4,781 views
3 citations

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

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

2,669 views
2 citations

Case Report

Published on 10 Dec 2024

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

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

2,390 views
1 citation

Original Research

Published on 10 Dec 2024

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

Zhe Liu
Taesung Park

Frontiers in Genetics

doi 10.3389/fgene.2024.1488683

3,125 views
10 citations

Original Research

Published on 09 Dec 2024

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

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

2,789 views
1 citation

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

Jana Bubenikova
Martin Plasil
Pamela A. Burger
Petr Horin

Frontiers in Genetics

doi 10.3389/fgene.2024.1463774

2,448 views

Original Research

Published on 09 Dec 2024

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

Hao Chen

Frontiers in Genetics

doi 10.3389/fgene.2024.1419755

1,914 views
1 citation

Original Research

Published on 09 Dec 2024

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

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

2,052 views
2 citations

Original Research

Published on 09 Dec 2024

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

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

2,336 views
1 citation

Brief Research Report

Published on 09 Dec 2024

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

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

1,841 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

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

2,467 views
2 citations

Case Report

Published on 06 Dec 2024

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

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

2,296 views

1,121 Publications

volumes

Prenatal diagnosis of a silver-russell syndrome caused by 11p15 duplication and pedigree analysis

Behind the scenes with genomics researchers

Mapping the current status and outlook of research on noonan syndrome over the last 26 years: a bibliometric and visual analysis

Corrigendum: Advances in stem cell therapy for diabetic foot

Pathogenesis and management of TRPV3-related Olmsted syndrome

Selection signature analysis reveals genes associated with tail phenotype in sheep

The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin

Association between arthropathies and postpartum hemorrhage: a bidirectional Mendelian randomization study

Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome’s clinical and molecular spectrum through NALCN in-silico structural analysis

The complete chloroplast genome of Illicium verum and comparative analysis with related species from Magnoliaceae and Illiciaceae

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

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

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

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

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

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

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

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

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

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

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

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

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

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