Frontiers in Genetics | Genetics of Common and Rare Diseases

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

898 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

3,204 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

805 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

1,240 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

2,114 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

1,276 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

1,114 views
1 citation

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

1,535 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

1,296 views

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

1,209 views
1 citation

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

1,497 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

1,122 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

1,336 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

1,154 views

Case Report

Published on 04 Sep 2024

Case report: A novel TLK2 variant with a neuropsychiatric phenotype from a Chinese family

in Genetics of Common and Rare Diseases

Hongmei Huang
Yue Qian
Chenlu Yang
Shijie Li

Frontiers in Genetics

doi 10.3389/fgene.2024.1419027

1,172 views

Case Report

Published on 02 Sep 2024

Case report: Second report of neuromuscular syndrome caused by biallelic variants in ASCC3

in Genetics of Common and Rare Diseases

Wang Li
Zhongliang Li
Junhui Fu
Kaili Xu
Daoqi Mei
Xiaona Wang
Taisong Li
Xilong Du

Frontiers in Genetics

doi 10.3389/fgene.2024.1382275

1,307 views