Frontiers in Genetics | Genetics of Common and Rare Diseases

Case Report

Published on 12 May 2022

Case Report: Challenges of Non-Invasive Prenatal Testing (NIPT): A Case Report of Confined Placental Mosaicism and Clinical Considerations

in Genetics of Common and Rare Diseases

Giulia Bonanni
Valentina Trevisan
Marcella Zollino
Marco De Santis
Federica Romanzi
Antonio Lanzone
Elisa Bevilacqua

Frontiers in Genetics

doi 10.3389/fgene.2022.881284

5,543 views
7 citations

Original Research

Published on 11 May 2022

De Novo Large Deletion Leading to Fragile X Syndrome

in Genetics of Common and Rare Diseases

Poonnada Jiraanont
Esther Manor
Nazi Tabatadze
Marwa Zafarullah
Guadalupe Mendoza
Gia Melikishvili
Flora Tassone

Frontiers in Genetics

doi 10.3389/fgene.2022.884424

6,469 views
4 citations

Original Research

Published on 10 May 2022

The Spectrum of ACAN Gene Mutations in a Selected Chinese Cohort of Short Stature: Genotype-Phenotype Correlation

in Genetics of Common and Rare Diseases

Su Wu
Chunli Wang
Qing Cao
Ziyang Zhu
Qianqi Liu
Xinyan Gu
Bixia Zheng
Wei Zhou
Zhanjun Jia
Wei Gu

Frontiers in Genetics

doi 10.3389/fgene.2022.891040

3,841 views
6 citations

Brief Research Report

Published on 09 May 2022

Long-Read Sequencing Revealed Extragenic and Intragenic Duplications of Exons 56–61 in DMD in an Asymptomatic Male and a DMD Patient

in Genetics of Common and Rare Diseases

Ying Bai
Ju Liu
Jinghan Xu
Yue Sun
Jingjing Li
Yong Gao
Lina Liu
Cangcang Jia
Xiangdong Kong
Li Wang

Frontiers in Genetics

doi 10.3389/fgene.2022.878806

4,464 views
14 citations

Case Report

Published on 05 May 2022

Case Report: Hereditary Fibrosing Poikiloderma With Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) Presenting With Liver Cirrhosis and Steroid-Responsive Interstitial Pneumonia

in Genetics of Common and Rare Diseases

Michiko Takimoto-Sato
Toshinari Miyauchi
Masaru Suzuki
Hideyuki Ujiie
Toshifumi Nomura
Tomoo Ikari
Tomohiko Nakamura
Kei Takahashi
Machiko Matsumoto-Sasaki
Hirokazu Kimura

Frontiers in Genetics

doi 10.3389/fgene.2022.870192

4,095 views
10 citations

Review

Published on 03 May 2022

Genetic and Biological Effects of SLC12A3, a Sodium-Chloride Cotransporter, in Gitelman Syndrome and Diabetic Kidney Disease

in Genetics of Common and Rare Diseases

Nan Li
Harvest F. Gu

Frontiers in Genetics

doi 10.3389/fgene.2022.799224

7,224 views
9 citations

Original Research

Published on 02 May 2022

ILF2 Contributes to Hyperproliferation of Keratinocytes and Skin Inflammation in a KLHDC7B-DT-Dependent Manner in Psoriasis

in Genetics of Common and Rare Diseases

Xiran Yin
Zhenxian Yang
Mingsheng Zhu
Cheng Chen
Shan Huang
Xueqing Li
Hua Zhong
He Wen
Qing Sun
Xiaojing Yu

Frontiers in Genetics

doi 10.3389/fgene.2022.890624

5,153 views
17 citations

Case Report

Published on 29 Apr 2022

Case Report: Two Novel L1CAM Mutations in Two Unrelated Chinese Families With X-Linked Hydrocephalus

in Genetics of Common and Rare Diseases

Hang Zhou
Qiuxia Yu
Yingsi Li
Fang Fu
Ru Li
Guilan Chen
Dan Wang
Yan Lu
Xin Yang
Dongzhi Li

Frontiers in Genetics

doi 10.3389/fgene.2022.810853

3,042 views
2 citations

Original Research

Published on 28 Apr 2022

The Genetic and Clinical Outcomes in Fetuses With Isolated Fetal Growth Restriction: A Chinese Single-Center Retrospective Study

in Genetics of Common and Rare Diseases

Hang Zhou
Ken Cheng
Yingsi Li
Fang Fu
Ru Li
Yongling Zhang
Xin Yang
Xiangyi Jing
Fucheng Li
Jin Han

Frontiers in Genetics

doi 10.3389/fgene.2022.856522

4,034 views
10 citations

Original Research

Published on 28 Apr 2022

Transcriptome Analysis of Monocytes and Fibroblasts Provides Insights Into the Molecular Features of Periodontal Ehlers-Danlos Syndrome

in Genetics of Common and Rare Diseases

Zhuoyi Liao
Tian Zhao
Ningxiang Wang
Jiaqi Chen
Weibin Sun
Juan Wu

Frontiers in Genetics

doi 10.3389/fgene.2022.834928

3,647 views
1 citation

Case Report

Published on 28 Apr 2022

Case Report: Biallelic Variant in the tRNA Methyltransferase Domain of the AlkB Homolog 8 Causes Syndromic Intellectual Disability

in Genetics of Common and Rare Diseases

Ahmed Waqas
Anam Nayab
Shabnam Shaheen
Safdar Abbas
Muhammad Latif
Misbahuddin M. Rafeeq
Ibtesam S. Al-Dhuayan
Amany I. Alqosaibi
Mashael M. Alnamshan
Ziaullah M. Sain

Frontiers in Genetics

doi 10.3389/fgene.2022.878274

2,948 views
18 citations

Original Research

Published on 28 Apr 2022

Genetic Landscape of Nephropathic Cystinosis in Russian Children

in Genetics of Common and Rare Diseases

K. V. Savostyanov
A. A. Pushkov
O. A. Shchagina
V. V. Maltseva
E. A. Suleymanov
I. S. Zhanin
N. N. Mazanova
A. P. Fisenko
P. S. Mishakova
A. V. Polyakov

Frontiers in Genetics

doi 10.3389/fgene.2022.863157

2,992 views
6 citations

Original Research

Published on 27 Apr 2022

DNA Methylation Analysis of Ribosomal DNA in Adults With Down Syndrome

in Genetics of Common and Rare Diseases

Francesco Ravaioli
Michele Zampieri
Luca Morandi
Chiara Pirazzini
Camilla Pellegrini
Sara De Fanti
Noémie Gensous
Gian Luca Pirazzoli
Luisa Sambati
Alessandro Ghezzo

Frontiers in Genetics

doi 10.3389/fgene.2022.792165

3,768 views
13 citations

Editorial

Published on 27 Apr 2022

Editorial: Molecular Mechanisms of Heritable Connective Tissue Disorders

in Genetics of Common and Rare Diseases

Fransiska Malfait
Antonella Forlino
Gerhard Sengle
Tom Van Agtmael

Frontiers in Genetics

doi 10.3389/fgene.2022.866665

2,038 views

Original Research

Published on 27 Apr 2022

SARS-CoV-2 Susceptibility and ACE2 Gene Variations Within Diverse Ethnic Backgrounds

in Genetics of Common and Rare Diseases

Nirmal Vadgama
Alexander Kreymerman
Jackie Campbell
Olga Shamardina
Christiane Brugger
Genomics England Research Consortium
Alexandra M. Deaconescu
Richard T. Lee
Christopher J. Penkett
Casey A. Gifford

Frontiers in Genetics

doi 10.3389/fgene.2022.888025

13,332 views
22 citations

Review

Published on 27 Apr 2022

Familial Hypercholesterolemia and Elevated Lipoprotein(a): Cascade Testing and Other Implications for Contextual Models of Care

in Genetics of Common and Rare Diseases

Wann Jia Loh
Dick C. Chan
Pedro Mata
Gerald F. Watts

Frontiers in Genetics

doi 10.3389/fgene.2022.905941

8,980 views
15 citations