Original Research

Published on 15 Sep 2022

First report of paternal uniparental disomy of chromosome 8 with SLC52A2 mutation in Brown-vialetto-van laere syndrome type 2 and an analysis of genotype-phenotype correlations

in Genetics of Common and Rare Diseases

Siyu Zhao
Fengyu Che
Le Yang
Yanyan Zheng
Dong Wang
Ying Yang
Yan Wang

Frontiers in Genetics

doi 10.3389/fgene.2022.977914

2,602 views
5 citations

Brief Research Report

Published on 14 Sep 2022

Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes

in Genetics of Common and Rare Diseases

B. Molloy
E. R. Jones
N. D. Linhares
P. G. Buckley
T. R. Leahy
B. Lynch
I. Knerr
M. D. King
K. M. Gorman

Frontiers in Genetics

doi 10.3389/fgene.2022.945296

1,992 views
7 citations

Systematic Review

Published on 13 Sep 2022

A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum

in Genetics of Common and Rare Diseases

Bridget T. Kiely
Rebecca L. Koch
Leticia Flores
Danielle Burner
Samantha Kaplan
Priya S. Kishnani

Frontiers in Genetics

doi 10.3389/fgene.2022.992406

2,205 views
8 citations

Brief Research Report

Published on 12 Sep 2022

Identification and molecular analysis of 11 cases of the PTS gene variants associated with tetrahydrobiopterin deficiency

in Genetics of Common and Rare Diseases

Lulu Li
Haihe Yang
Jinqi Zhao
Nan Yang
Lifei Gong
Yue Tang
Yuanyuan Kong

Frontiers in Genetics

doi 10.3389/fgene.2022.919209

2,374 views
4 citations

Review

Published on 12 Sep 2022

Enhanced GIRK2 channel signaling in Down syndrome: A feasible role in the development of abnormal nascent neural circuits

in Genetics of Common and Rare Diseases

Alexander M. Kleschevnikov

Frontiers in Genetics

doi 10.3389/fgene.2022.1006068

2,180 views
2 citations

Original Research

Published on 12 Sep 2022

Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases

in Genetics of Common and Rare Diseases

Soojin Park
Se Song Jang
Seungbok Lee
Minsoo Kim
Hyungtai Sim
Hyeongseok Jeon
Sung Eun Hong
Jean Lee
Jeongeun Lee
Eun Young Jeon

Frontiers in Genetics

doi 10.3389/fgene.2022.990015

5,118 views
6 citations

Case Report

Published on 12 Sep 2022

Case Report: The third-generation sequencing confirmed a novel 7.2 Kb deletion at β-globin gene in a patient with rare β-thalassemia

in Genetics of Common and Rare Diseases

Guoxing Zhong
Zeyan Zhong
Zhiyang Guan
Dina Chen
Zhiyong Wu
Kunxiang Yang
Dan Chen
Yinyin Liu
Ruofan Xu
Jianhong Chen

Frontiers in Genetics

doi 10.3389/fgene.2022.984996

1,979 views
3 citations

Case Report

Published on 09 Sep 2022

Living birth following preimplantation genetic testing for monogenic disorders to prevent low-level germline mosaicism related Nicolaides–Baraitser syndrome

in Genetics of Common and Rare Diseases

Jiexue Pan
Jie Li
Songchang Chen
Chenming Xu
Hefeng Huang
Li Jin

Frontiers in Genetics

doi 10.3389/fgene.2022.989041

2,061 views
1 citation

Original Research

Published on 09 Sep 2022

Novel heterozygous mutation in COL4A4 responsible for Alport syndrome in a Chinese family

in Genetics of Common and Rare Diseases

Ran Du
Jishi Liu
Yiqiao Hu
Song Peng
Liangliang Fan
Rong Xiang
Hao Huang

Frontiers in Genetics

doi 10.3389/fgene.2022.899006

2,530 views
1 citation

Original Research

Published on 08 Sep 2022

LNC-ZNF33B-2:1 gene rs579501 polymorphism is associated with organ dysfunction and death risk in pediatric sepsis

in Genetics of Common and Rare Diseases

Zhaoliang Lu
Hongyan Yu
Yufen Xu
Kaining Chen
Yueling Lin
Kun Lin
Yishuai Wang
Kaixiong Xu
Lanyan Fu
Weizhan Li

Frontiers in Genetics

doi 10.3389/fgene.2022.947317

1,451 views
1 citation

Editorial

Published on 08 Sep 2022

Editorial: Developmental delay and intellectual disability

in Genetics of Common and Rare Diseases

Santasree Banerjee
Anjana Munshi
Chen Li
Muhammad Ayub

Frontiers in Genetics

doi 10.3389/fgene.2022.934815

5,822 views
1 citation

Original Research

Published on 07 Sep 2022

Haplotype-specific chromatin looping reveals genetic interactions of regulatory regions modulating gene expression in 8p23.1

in Genetics of Common and Rare Diseases

Mariana Saint Just Ribeiro
Pulak Tripathi
Bahram Namjou
John B. Harley
Iouri Chepelev

Frontiers in Genetics

doi 10.3389/fgene.2022.1008582

3,385 views
4 citations

Case Report

Published on 07 Sep 2022

Case report: A novel CASK mutation in a Chinese female child with microcephaly with pontine and cerebellar hypoplasia

in Genetics of Common and Rare Diseases

Guilan Xie
Yan Zhang
Wenfang Yang
Liren Yang
Ruiqi Wang
Mengmeng Xu
Landi Sun
Boxing Zhang
Xiaoyi Cui

Frontiers in Genetics

doi 10.3389/fgene.2022.856636

1,932 views
2 citations

Perspective

Published on 06 Sep 2022

Ectodermal dysplasias: New perspectives on the treatment of so far immedicable genetic disorders

in Genetics of Common and Rare Diseases

Holm Schneider

Frontiers in Genetics

doi 10.3389/fgene.2022.1000744

6,926 views
9 citations

Editorial

Published on 06 Sep 2022

Editorial: Improving medical diagnosis in rare diseases

in Genetics of Common and Rare Diseases

Natália Duarte Linhares
Kathleen M Gorman
Alfredo Brusco

Frontiers in Genetics

doi 10.3389/fgene.2022.974129

1,759 views

Original Research

Published on 06 Sep 2022

Comprehensive analysis and validation of novel immune and vascular remodeling related genes signature associated with drug interactions in pulmonary arterial hypertension

in Genetics of Common and Rare Diseases

Jie Wang
Md. Nazim Uddin
Rui Wang
Yue-hong Gong
Yun Wu

Frontiers in Genetics

doi 10.3389/fgene.2022.922213

2,882 views
8 citations

Navigation group

Articles

First report of paternal uniparental disomy of chromosome 8 with SLC52A2 mutation in Brown-vialetto-van laere syndrome type 2 and an analysis of genotype-phenotype correlations

Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes

A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum

Identification and molecular analysis of 11 cases of the PTS gene variants associated with tetrahydrobiopterin deficiency

Enhanced GIRK2 channel signaling in Down syndrome: A feasible role in the development of abnormal nascent neural circuits

Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases

Case Report: The third-generation sequencing confirmed a novel 7.2 Kb deletion at β-globin gene in a patient with rare β-thalassemia

Living birth following preimplantation genetic testing for monogenic disorders to prevent low-level germline mosaicism related Nicolaides–Baraitser syndrome

Novel heterozygous mutation in COL4A4 responsible for Alport syndrome in a Chinese family

LNC-ZNF33B-2:1 gene rs579501 polymorphism is associated with organ dysfunction and death risk in pediatric sepsis

Editorial: Developmental delay and intellectual disability

Haplotype-specific chromatin looping reveals genetic interactions of regulatory regions modulating gene expression in 8p23.1

Case report: A novel CASK mutation in a Chinese female child with microcephaly with pontine and cerebellar hypoplasia

Ectodermal dysplasias: New perspectives on the treatment of so far immedicable genetic disorders

Editorial: Improving medical diagnosis in rare diseases

Comprehensive analysis and validation of novel immune and vascular remodeling related genes signature associated with drug interactions in pulmonary arterial hypertension