Frontiers in Genetics

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

in Human and Medical Genomics

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

1,719 views
1 citation

Original Research

Published on 11 Dec 2024

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

in Genomics of Plants and the Phytoecosystem

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

1,072 views
1 citation

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

1,741 views
1 citation

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

1,127 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

2,491 views
1 citation

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

1,744 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

1,497 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

1,848 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

1,333 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

1,649 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

1,213 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

1,071 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

1,288 views
1 citation

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

1,541 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

1,265 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

1,524 views