Frontiers in Genetics

Case Report

Published on 12 Sep 2024

Case report: Early (molecular) diagnosis is the clue: report on ALDH7A1 deficiency in newborns

in Genetics of Common and Rare Diseases

Patryk Lipiński
Katarzyna Wójcicka-Kowalczyk
Anna Bogdańska
Ewa Ehmke
Magdalena Pajdowska
Katarzyna Skrzypek
Agnieszka Charzewska
Dorota Hoffman-Zacharska

Frontiers in Genetics

doi 10.3389/fgene.2024.1464556

1,524 views
1 citation

Retraction

Published on 11 Sep 2024

Retraction: Oncological effects and prognostic value of AMAP1 in gastric cancer

in Cancer Genetics

Frontiers Editorial Office

Frontiers in Genetics

doi 10.3389/fgene.2024.1491856

838 views

Case Report

Published on 11 Sep 2024

Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel GLRX5 variant

in Genetics of Common and Rare Diseases

Victor Marin
Louis Lebreton
Claire Guibet
Samir Mesli
Isabelle Redonnet-Vernhet
Mathurin Dexant
Delphine Lamireau
Sandrine Roche
Margaux Gaschignard
Jean Delmas

Frontiers in Genetics

doi 10.3389/fgene.2024.1432272

1,841 views
1 citation

Editorial

Published on 11 Sep 2024

Editorial: Diagnosis, animal models and therapeutic interventions for neuromuscular diseases

in Neurogenomics

Muthukumar Karuppasamy
Martine Tetreault
Jessica Rosati

Frontiers in Genetics

doi 10.3389/fgene.2024.1481705

867 views

Original Research

Published on 11 Sep 2024

Ninein, a candidate gene for ethanol anxiolysis, shows complex exon-specific expression and alternative splicing differences between C57BL/6J and DBA/2J mice

in Pharmacogenetics and Pharmacogenomics

E. R. Gnatowski
J. L. Jurmain
M. G. Dozmorov
J. T. Wolstenholme
M. F. Miles

Frontiers in Genetics

doi 10.3389/fgene.2024.1455616

1,291 views
1 citation

Systematic Review

Published on 11 Sep 2024

Association between haptoglobin polymorphism and coronary artery disease: a meta-analysis

in Applied Genetic Epidemiology

Jiao Wang
Xiaokai Zhou
Yue Su
Dongjian Chai
Yaoyao Ruan
Jinhua Wang

Frontiers in Genetics

doi 10.3389/fgene.2024.1434975

1,092 views

Original Research

Published on 10 Sep 2024

BLESS: bagged logistic regression for biomarker identification

in Statistical Genetics and Methodology

Kyle Gardiner
Xuekui Zhang
Li Xing

Frontiers in Genetics

doi 10.3389/fgene.2024.1336891

1,349 views

Editorial

Published on 10 Sep 2024

Editorial: Liquid biopsy and new omics technologies in vascular malformations

in Human and Medical Genomics

Massimo Vaghi
Elisa Frullanti
Maria Palmieri

Frontiers in Genetics

doi 10.3389/fgene.2024.1486606

827 views

Original Research

Published on 10 Sep 2024

Identification of two heterogeneous subtypes of hepatocellular carcinoma with distinct pathway activities and clinical outcomes based on gene set variation analysis

in Cancer Genetics and Oncogenomics

Zhipeng Jin
Xin Wang
Xue Zhang
Siqi Cheng
Yefu Liu

Frontiers in Genetics

doi 10.3389/fgene.2024.1441189

1,608 views

Case Report

Published on 09 Sep 2024

Case report: Whole exome sequencing reveals a novel splicing variant of ANKRD17 gene in a Chinese male juvenile with developmental delay and transient tic disorder

in Genetics of Common and Rare Diseases

Jing Chen
Shuo Yang
He Wang
Hongjing Wang
Yuanyuan Xiao
Shanling Liu

Frontiers in Genetics

doi 10.3389/fgene.2024.1422469

1,498 views

Brief Research Report

Published on 09 Sep 2024

De novo and inherited micro-CNV at 16p13.11 in 21 Chinese patients with defective cardiac left-right patterning

in Genetics of Common and Rare Diseases

Kun Yu
Weicheng Chen
Yan Chen
Libing Shen
Boxuan Wu
Yuan Zhang
Xiangyu Zhou

Frontiers in Genetics

doi 10.3389/fgene.2024.1458953

1,912 views
1 citation

Mini Review

Published on 09 Sep 2024

Harmonisation of the HLA tests for the diagnosis of coeliac disease: experiences from the Czech external proficiency testing program

in Immunogenetics

Milena Vrana
Jana Tajtlova
Frantisek Mrazek

Frontiers in Genetics

doi 10.3389/fgene.2024.1441769

1,229 views

Original Research

Published on 05 Sep 2024

Development and clinical validation of a novel detection kit for α-thalassemia in southern Chinese

in Genetics of Common and Rare Diseases

Yi-Yuan Ge
Jun Xie
Yu-Wei Liao
Long-Xu Xie
Li-Ye Yang

Frontiers in Genetics

doi 10.3389/fgene.2024.1457248

1,489 views

Original Research

Published on 05 Sep 2024

Meta-analysis of set-based multiple phenotype association test based on GWAS summary statistics from different cohorts

in Statistical Genetics and Methodology

Lirong Zhu
Shuanglin Zhang
Qiuying Sha

Frontiers in Genetics

doi 10.3389/fgene.2024.1359591

1,347 views
1 citation

Original Research

Published on 05 Sep 2024

Parental genetic knowledge and attitudes toward childhood with genetic disorders

in Human and Medical Genomics

Maha Alotaibi

Frontiers in Genetics

doi 10.3389/fgene.2024.1434322

1,948 views

Editorial

Published on 05 Sep 2024

Editorial: Methods in applied genetic epidemiology 2022

in Applied Genetic Epidemiology

Qi Guo
Christopher Neal Foley
Zhana Kuncheva

Frontiers in Genetics

doi 10.3389/fgene.2024.1469497

1,292 views
1 citation