Frontiers in Genetics | Genetics of Common and Rare Diseases

Original Research

Published on 07 Jun 2023

A multiethnic genome-wide analysis of 19,420 individuals identifies novel loci associated with axial length and shared genetic influences with refractive error and myopia

in Genetics of Common and Rare Diseases

Chen Jiang
Ronald B. Melles
Jie Yin
Qiao Fan
Xiaobo Guo
Ching-Yu Cheng
Mingguang He
David A. Mackey
Jeremy A. Guggenheim
Caroline Klaver

Frontiers in Genetics

doi 10.3389/fgene.2023.1113058

4,353 views
8 citations

Case Report

Published on 06 Jun 2023

Case report: Sex-specific characteristics of epilepsy phenotypes associated with Xp22.31 deletion: a case report and review

in Genetics of Common and Rare Diseases

Yi Wu
Dan Wu
Yulong Lan
Shaocong Lan
Duo Li
Zexin Zheng
Hongwu Wang
Lian Ma

Frontiers in Genetics

doi 10.3389/fgene.2023.1025390

4,063 views

Case Report

Published on 06 Jun 2023

Case report: The spectrum of SMPD1 pathogenic variants in Hungary

in Genetics of Common and Rare Diseases

Maria Judit Molnar
Tamas Szlepak
Ildikó Csürke
Szendile Loth
Rita Káposzta
Melinda Erdős
Antal Dezsőfi

Frontiers in Genetics

doi 10.3389/fgene.2023.1158108

3,002 views
1 citation

Case Report

Published on 06 Jun 2023

The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report

in Genetics of Common and Rare Diseases

Aleksandra Szczawińska-Popłonyk
Natalia Popłonyk
Magdalena Badura-Stronka
Jerome Juengling
Kerstin Huhn
Saskia Biskup
Bartłomiej Bancerz
Jarosław Walkowiak

Frontiers in Genetics

doi 10.3389/fgene.2023.1108852

3,017 views
4 citations

Case Report

Published on 06 Jun 2023

Case report: Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in COL11A2

in Genetics of Common and Rare Diseases

Ying Su
Chun-Qiong Ran
Zhe-Long Liu
Yan Yang
Gang Yuan
Shu-Hong Hu
Xue-Feng Yu
Wen-Tao He

Frontiers in Genetics

doi 10.3389/fgene.2023.1154087

3,201 views
1 citation

Case Report

Published on 05 Jun 2023

Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples

in Genetics of Common and Rare Diseases

Lingping Li
Xijing Liu
Qinqin Li
Lili Zhang
Yueyue Xiong
Shanling Liu
He Wang
Hongmei Zhu
Xuemei Zhang

Frontiers in Genetics

doi 10.3389/fgene.2023.1165019

2,782 views
1 citation

Case Report

Published on 05 Jun 2023

Uniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease

in Genetics of Common and Rare Diseases

Yi-Dan Liu
Dan-Dan Tan
Dan-Yu Song
Yan-Bin Fan
Xiao-Na Fu
Lin Ge
Wei Wei
Hui Xiong

Frontiers in Genetics

doi 10.3389/fgene.2023.1170089

2,283 views

Case Report

Published on 01 Jun 2023

Phenotyping of a novel COL4A4 and novel GLA variant in a patient presenting with microhematuria and mildly impaired kidney function: a case report

in Genetics of Common and Rare Diseases

Markus Ponleitner
Daniela Maria Allmer
Manfred Hecking
Constantin Gatterer
Senta Graf
Mateja Smogavec
Franco Laccone
Paulus Stefan Rommer
Gere Sunder-Plassmann

Frontiers in Genetics

doi 10.3389/fgene.2023.1211858

2,153 views

Original Research

Published on 31 May 2023

A partitioned 88-loci psoriasis genetic risk score reveals HLA and non-HLA contributions to clinical phenotypes in a Newfoundland psoriasis cohort

in Genetics of Common and Rare Diseases

Audrey Bui
Sugandh Kumar
Jared Liu
Faye Orcales
Susanne Gulliver
Lam C. Tsoi
Wayne Gulliver
Wilson Liao

Frontiers in Genetics

doi 10.3389/fgene.2023.1141010

3,694 views
5 citations

Original Research

Published on 31 May 2023

Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome

in Genetics of Common and Rare Diseases

C. Angwin
J. Zschocke
T. Kammin
E. Björck
J. Bowen
A. F. Brady
H. Burns
C. Cummings
R. Gardner
N. Ghali

Frontiers in Genetics

doi 10.3389/fgene.2023.1136339

6,876 views
3 citations

Original Research

Published on 31 May 2023

The same heterozygous Col4A4 mutation triggered different renal pathological changes in Chinese family members

in Genetics of Common and Rare Diseases

Fengming Zhu
Yueqiang Li
Yuxi Wang
Ying Yao
Rui Zeng

Frontiers in Genetics

doi 10.3389/fgene.2023.1180149

3,135 views

Editorial

Published on 30 May 2023

Editorial: Genetics of thyroid gland

in Genetics of Common and Rare Diseases

Tatijana Zemunik
Mirjana Babić Leko
Ivana Gunjača

Frontiers in Genetics

doi 10.3389/fgene.2023.1219472

1,969 views

Review

Published on 30 May 2023

From neurodevelopment to neurodegeneration: utilizing human stem cell models to gain insight into Down syndrome

in Genetics of Common and Rare Diseases

L. Ashley Watson
Hiruy S. Meharena

Frontiers in Genetics

doi 10.3389/fgene.2023.1198129

5,639 views
6 citations

Original Research

Published on 30 May 2023

A frameshift variant in the SIRPB1 gene confers susceptibility to Crohn’s disease in a Chinese population

in Genetics of Common and Rare Diseases

Jian Tang
Xingyang Wan
JunXiao Zhang
Na Diao
Caibin Zhang
Xiang Gao
Donglin Ren

Frontiers in Genetics

doi 10.3389/fgene.2023.1130529

3,612 views
4 citations

Case Report

Published on 26 May 2023

Case report: Frontotemporal dementia and amyotrophic lateral sclerosis caused by a missense variant (p.Arg89Trp) in the valosin-containing protein gene

in Genetics of Common and Rare Diseases

Shiroh Miura
Shigeyoshi Hiruki
Tomohisa Okada
Satoko Itani Takei
Kensuke Senzaki
Yoko Okada
Masayuki Ochi
Yuki Tanabe
Hirofumi Ochi
Michiya Igase

Frontiers in Genetics

doi 10.3389/fgene.2023.1155998

3,422 views
1 citation

Correction

Published on 26 May 2023

Corrigendum: Molecular characteristics of choledochal cysts in children: transcriptome sequencing

in Genetics of Common and Rare Diseases

Yong Lv
Xiaolong Xie
Lihui Pu
Qi Wang
Jiayin Yang
Siyu Pu
Chengbo Ai
Yi Liu
Jing Chen
Bo Xiang

Frontiers in Genetics

doi 10.3389/fgene.2023.1219849

1,985 views