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

594 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

646 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

791 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

643 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

543 views

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

619 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

458 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

430 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

1,073 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

500 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

507 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

1,076 views

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

600 views

Brief Research Report

Published on 18 Sep 2024

Monozygotic triplets with juvenile-onset autoimmunity and 18p microdeletion involving PTPRM

in Genetics of Common and Rare Diseases

Morten Krogh Herlin
Jens Magnus Bernth Jensen
Lotte Andreasen
Mikkel Steen Petersen
Jonas Lønskov
Mette Bendixen Thorup
Niels Birkebæk
Trine H. Mogensen
Troels Herlin
Bent Deleuran

Frontiers in Genetics

doi 10.3389/fgene.2024.1437566

602 views

Original Research

Published on 16 Sep 2024

Association study reveals a susceptibility locus with male pattern baldness in the Han Chinese population

in Genetics of Common and Rare Diseases

Yang Li
He Huang
Bo Liang
Feng-Li Xiao
Fu-Sheng Zhou
Xiao-Dong Zheng
Sen Yang
Xue-Jun Zhang

Frontiers in Genetics

doi 10.3389/fgene.2024.1438375

836 views

Original Research

Published on 13 Sep 2024

Low prevalence of HIV in the northern Cameroon: contribution of some AIDS restriction genes and potential implications for gene therapy

in Genetics of Common and Rare Diseases

Patrice Djataou
Marceline Djuidje Ngounoue
Carine Nguefeu Nkenfou-Tchinda
Marie Nicole Ngoufack
Elise Elong
Aline Tiga
Clifford Muluh
Joelle Kadji Kameni
Moussa Djaouda
Alexis Ndjolo

Frontiers in Genetics

doi 10.3389/fgene.2024.1447971

723 views

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Articles

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

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

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

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

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

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

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

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

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

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

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

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

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

Monozygotic triplets with juvenile-onset autoimmunity and 18p microdeletion involving PTPRM

Association study reveals a susceptibility locus with male pattern baldness in the Han Chinese population

Low prevalence of HIV in the northern Cameroon: contribution of some AIDS restriction genes and potential implications for gene therapy