Frontiers in Genetics | Genetics of Common and Rare Diseases

Original Research

Published on 01 Nov 2024

Prenatal detection of novel compound heterozygous variants of the PLD1 gene in a fetus with congenital heart disease

in Genetics of Common and Rare Diseases

Linyan Zhu
Mei Chen
Yubo Shi
Xiaxi Huang
Huiqing Ding

Frontiers in Genetics

doi 10.3389/fgene.2024.1498485

885 views

Original Research

Published on 30 Oct 2024

Identification of m5C-Related gene diagnostic biomarkers for sepsis: a machine learning study

in Genetics of Common and Rare Diseases

Siming Lin
Kexin Cai
Shaodan Feng
Zhihong Lin

Frontiers in Genetics

doi 10.3389/fgene.2024.1444003

1,359 views

Original Research

Published on 28 Oct 2024

Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation

in Genetics of Common and Rare Diseases

Elena Kondratyeva
Yuliya Melyanovskaya
Victoriya Sherman
Anna Voronkova
Elena Zhekaite
Stanislav Krasovsky
Elena Amelina
Nataliya Kashirskaya
Vera Shadrina
Alexander Polyakov

Frontiers in Genetics

doi 10.3389/fgene.2024.1383033

1,218 views

Case Report

Published on 23 Oct 2024

Case report: Adult patient with WWOX developmental and epileptic encephalopathy: 40 years of observation

in Genetics of Common and Rare Diseases

Anna Teplyshova
Artem Sharkov

Frontiers in Genetics

doi 10.3389/fgene.2024.1477466

1,271 views

Correction

Published on 21 Oct 2024

Corrigendum: Chronic systemic capillary leak syndrome with lymphatic capillaries involvement and MYOF mutation: case report and literature review

in Genetics of Common and Rare Diseases

Dehua Gao
Wen Zhong
Weiru Zhang
Xuan Wang
Weiping Li
Jun Liu

Frontiers in Genetics

doi 10.3389/fgene.2024.1506453

521 views

Original Research

Published on 21 Oct 2024

Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families

in Genetics of Common and Rare Diseases

Larissa Nascimento Antunes
Alex Marcel Moreira Dias
Beatriz Cetalle Schiavo
Beatriz C. A. Mendes
Debora Romeo Bertola
Karina Lezirovitz
Regina Célia Mingroni-Netto

Frontiers in Genetics

doi 10.3389/fgene.2024.1409306

1,438 views
1 citation

Case Report

Published on 18 Oct 2024

Case Report: An association of left ventricular outflow tract obstruction with 5p deletions

in Genetics of Common and Rare Diseases

Kira Mascho
Svetlana A. Yatsenko
Cecilia W. Lo
Xinxiu Xu
Jennifer Johnson
Lindsey R. Helvaty
Stephanie Burns Wechsler
Chaya N. Murali
Seema R. Lalani
Vidu Garg

Frontiers in Genetics

doi 10.3389/fgene.2024.1451746

833 views

Case Report

Published on 16 Oct 2024

Case report: Successful PGT-M based on the identification of a spliceogenic variant in the RPGRIP1L gene through Minigene assay

in Genetics of Common and Rare Diseases

Huiling Xu
Jiajie Pu
Zhengzhong Wu
Shuhan Guo
Xuemei Li

Frontiers in Genetics

doi 10.3389/fgene.2024.1456293

919 views
1 citation

Original Research

Published on 15 Oct 2024

Preimplantation genetic testing for Cockayne syndrome with a novel ERCC6 variant in a Chinese family

in Genetics of Common and Rare Diseases

Xuemei He
Yiyuan Zhang
Xianjing Huang
Pingping Qiu
Hong Ji
Lu Ding
Yingying Shi
Yanru Huang
Ping Li
Libin Mei

Frontiers in Genetics

doi 10.3389/fgene.2024.1435622

1,012 views

Case Report

Published on 11 Oct 2024

Case Report: Charcot-marie-tooth disease caused by a de novo MORC2 gene mutation - novel insights into pathogenicity and treatment

in Genetics of Common and Rare Diseases

Feng Zhu
Chengcheng Gao
Xiangxiang Zhu
Huihua Jiang
Mingchun Huang
Yuanlin Zhou

Frontiers in Genetics

doi 10.3389/fgene.2024.1400906

1,431 views

Original Research

Published on 09 Oct 2024

Genetic investigation and diagnosis in adults with congenital heart disease with or without structural or neurodevelopmental comorbidity: a retrospective chart review

in Genetics of Common and Rare Diseases

Moriah Edwards
Xue Zhang
Alexander R. Opotowsky
Nicole Brown
Amy R. Shikany
Kathryn Nicole Weaver

Frontiers in Genetics

doi 10.3389/fgene.2024.1412806

1,183 views

Original Research

Published on 08 Oct 2024

TFE3 and TP53 were novel diagnostic biomarkers related to mitochondrial autophagy in chronic rhinosinusitis with nasal polyps

in Genetics of Common and Rare Diseases

Ning Wang
Ying Yuan
Yanjun Jia
Yue Han
Xuemin Yu
Ying Fu
Xiao Li

Frontiers in Genetics

doi 10.3389/fgene.2024.1423778

1,573 views

Case Report

Published on 07 Oct 2024

A new subtype of Lynch syndrome associated with MSH2 c.354T>A (p. Y118*) identified in a Chinese family: case report and literature review

in Genetics of Common and Rare Diseases

Lan Zhong
Wenxiang Wang
Yuanqiong Duan
Liang Song
Zhanghuan Li
Kaixuan Yang
Qintong Li
Rutie Yin

Frontiers in Genetics

doi 10.3389/fgene.2024.1440179

1,510 views

Original Research

Published on 02 Oct 2024

Molecular diagnosis of patients with syndromic short stature identified by trio whole-exome sequencing

in Genetics of Common and Rare Diseases

Huihui Sun
Geng Zhang
Na Li
Xiangfang Bu

Frontiers in Genetics

doi 10.3389/fgene.2024.1399186

1,614 views
1 citation

Brief Research Report

Published on 02 Oct 2024

Analysis of rare genetic variants in All of Us cohort patients with common variable immunodeficiency

in Genetics of Common and Rare Diseases

Troy von Beck
Meera Patel
Niraj C. Patel
Joshy Jacob

Frontiers in Genetics

doi 10.3389/fgene.2024.1409754

1,171 views

Original Research

Published on 27 Sep 2024

A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification

in Genetics of Common and Rare Diseases

Xiaoxue Shi
Xuelin Qi
Jinhua Zheng
Jianjun Ma
Dongsheng Li

Frontiers in Genetics

doi 10.3389/fgene.2024.1421122

873 views