Frontiers in Genetics | Genetics of Common and Rare Diseases

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

1,633 views
1 citation

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

1,728 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

1,820 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

2,648 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

2,181 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

2,858 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

2,456 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

2,762 views
2 citations

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

2,142 views

Brief Research Report

Published on 27 Sep 2024

Inorganic pyrophosphate plasma levels in patients with GGCX-associated PXE-like phenotypes

in Genetics of Common and Rare Diseases

Qiaoli Li
Catherine Troutman
Mary Peckiconis
Tamara Wurst
Sharon F. Terry

Frontiers in Genetics

doi 10.3389/fgene.2024.1429320

1,588 views
2 citations

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

1,645 views

Review

Published on 26 Sep 2024

Genetic etiology of autism spectrum disorder in the African population: a scoping review

in Genetics of Common and Rare Diseases

Olivier Hakizimana
Janvier Hitayezu
Jeanne P. Uyisenga
Hope Onohuean
Leonor Palmeira
Vincent Bours
Abdullateef Isiaka Alagbonsi
Annette Uwineza

Frontiers in Genetics

doi 10.3389/fgene.2024.1431093

7,090 views

Case Report

Published on 26 Sep 2024

Case report: Two siblings with very late onset of holocarboxylase synthase deficiency and a mini-review

in Genetics of Common and Rare Diseases

Margaux Gaschignard
Louis Domenach
Delphine Lamireau
Claire Guibet
Sandrine Roche
Emmanuel Richard
Isabelle Redonnet-Vernhet
Samir Mesli
Louis Lebreton

Frontiers in Genetics

doi 10.3389/fgene.2024.1249480

1,426 views

Brief Research Report

Published on 25 Sep 2024

Whole-genome sequencing reveals rare variants associated with gout in Taiwanese males

in Genetics of Common and Rare Diseases

Yu-Ping Tseng
Ya-Sian Chang
Venugopala R. Mekala
Ting-Yuan Liu
Jan-Gowth Chang
Grace S. Shieh

Frontiers in Genetics

doi 10.3389/fgene.2024.1423714

2,219 views

Original Research

Published on 25 Sep 2024

Integrating transcriptomics, eQTL, and Mendelian randomization to dissect monocyte roles in severe COVID-19 and gout flare

in Genetics of Common and Rare Diseases

Jiajia Li
Guixian Yang
Junnan Liu
Guofeng Li
Huiling Zhou
Yuan He
Xinru Fei
Dongkai Zhao

Frontiers in Genetics

doi 10.3389/fgene.2024.1385316

3,450 views
1 citation

Original Research

Published on 18 Sep 2024

A combined transcriptomics and proteomics approach reveals S100A4 as a potential biomarker for Graves’ orbitopathy

in Genetics of Common and Rare Diseases

Chiaw-Ling Chng
Oi Fah Lai
Lay-Leng Seah
Kai-Ling Yong
Yvonne Hsi-Wei Chung
Rochelle Goh
Che Kang Lim

Frontiers in Genetics

doi 10.3389/fgene.2024.1342205

2,484 views
2 citations