Brief Research Report

Published on 04 Sep 2023

Establishing induced pluripotent stem cell lines from two dominant optic atrophy patients with distinct OPA1 mutations and clinical pathologies

in Genetics of Common and Rare Diseases

Katherine A. Pohl
Xiangmei Zhang
Anh H. Pham
Jane W. Chan
Alfredo A. Sadun
Xian-Jie Yang

Frontiers in Genetics

doi 10.3389/fgene.2023.1251216

1,867 views
1 citation

Systematic Review

Published on 01 Sep 2023

Association of Calpain10 polymorphisms with polycystic ovarian syndrome susceptibility: a systematic review and meta-analysis with trial sequential analysis

in Genetics of Common and Rare Diseases

Yamei Li
Ting Han
Yingxia Wang
Jie Gao
Jianglin Zhang
Yinglan Wu
Jiayou Luo

Frontiers in Genetics

doi 10.3389/fgene.2023.1153960

1,859 views

Original Research

Published on 31 Aug 2023

Chinese patients with 3M syndrome: clinical manifestations and two novel pathogenic variants

in Genetics of Common and Rare Diseases

Ningan Xu
Kangxiang Liu
Yongjia Yang
Xiaoming Li
Yan Zhong

Frontiers in Genetics

doi 10.3389/fgene.2023.1164936

1,950 views

Brief Research Report

Published on 31 Aug 2023

Variable clinical expression of a Belgian TGFB3 founder variant suggests the presence of a genetic modifier

in Genetics of Common and Rare Diseases

Melanie H. A. M. Perik
Emmanuela Govaerts
Steven Laga
Inge Goovaerts
Johan Saenen
Emeline Van Craenenbroeck
Josephina A. N. Meester
Ilse Luyckx
Inez Rodrigus
Aline Verstraeten

Frontiers in Genetics

doi 10.3389/fgene.2023.1251675

1,651 views

Case Report

Published on 31 Aug 2023

Case report: A case report and literature review of complete trisomy 9

in Genetics of Common and Rare Diseases

Chenxia Xu
Miaoyuan Li
Jianming Peng
Yanfang Zhang
Haijun Li
Guobing Zheng
Degang Wang

Frontiers in Genetics

doi 10.3389/fgene.2023.1241245

3,211 views

Original Research

Published on 30 Aug 2023

Clinical and molecular delineation of classical-like Ehlers–Danlos syndrome through a comprehensive next-generation sequencing-based screening system

in Genetics of Common and Rare Diseases

Tomomi Yamaguchi
Kazuo Yamada
So Nagai
Toshiya Nishikubo
Norimichi Koitabashi
Masako Minami-Hori
Masaaki Matsushima
Yuka Shibata
Hiroki Ishiguro
Hiromi Sanai

Frontiers in Genetics

doi 10.3389/fgene.2023.1234804

3,435 views

Brief Research Report

Published on 29 Aug 2023

A novel homozygous variant in PADI6 is associate with human cleavage-stage embryonic arrest

in Genetics of Common and Rare Diseases

Guangyi Cao
Xiangyu Zhu
Yuling Lin
Junshun Fang
Xiaoyue Shen
Shanshan Wang
Na Kong

Frontiers in Genetics

doi 10.3389/fgene.2023.1243230

1,141 views

Case Report

Published on 25 Aug 2023

A GATA3 gene mutation that causes incorrect splicing and HDR syndrome: a case study and literature review

in Genetics of Common and Rare Diseases

Yilun Tao
Lin Yang
Dong Han
Chen Zhao
Wenxia Song
Haiwei Wang
Xiaoze Li
Lihong Wang

Frontiers in Genetics

doi 10.3389/fgene.2023.1254556

2,003 views
3 citations

Original Research

Published on 24 Aug 2023

Prenatal diagnosis and outcomes in 320 fetuses with nasal bone anomalies

in Genetics of Common and Rare Diseases

Hui Li
Yanyi Yao
Chengcheng Zhang
Yayun Qin
Ling Zeng
Jieping Song
Li Lu
Wei Wang
Lijun Liu

Frontiers in Genetics

doi 10.3389/fgene.2023.1170720

7,063 views
2 citations

Original Research

Published on 22 Aug 2023

Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD

in Genetics of Common and Rare Diseases

Claudia Strafella
Valerio Caputo
Sara Bortolani
Eleonora Torchia
Domenica Megalizzi
Giulia Trastulli
Mauro Monforte
Luca Colantoni
Carlo Caltagirone
Enzo Ricci

Frontiers in Genetics

doi 10.3389/fgene.2023.1235589

2,413 views
3 citations

Case Report

Published on 21 Aug 2023

Case report: A rare case of pyruvate kinase deficiency and Crigler-Najjar syndrome type II with a novel pathogenic variant of PKLR and UGT1A1 mutation

in Genetics of Common and Rare Diseases

Huan Wu
Long Wu
Quan Zhang
Bao-fang Zhang

Frontiers in Genetics

doi 10.3389/fgene.2023.1229271

1,703 views
1 citation

Brief Research Report

Published on 21 Aug 2023

Unraveling haplotype errors in the DFNA33 locus

in Genetics of Common and Rare Diseases

Barbara Vona
Sabrina Regele
Aboulfazl Rad
Nicola Strenzke
Justin A. Pater
Katrin Neumann
Marc Sturm
Tobias B. Haack
Antoinette G. Am Zehnhoff-Dinnesen

Frontiers in Genetics

doi 10.3389/fgene.2023.1214736

1,084 views

Original Research

Published on 17 Aug 2023

Fetal hyperechoic kidney cohort study and a meta-analysis

in Genetics of Common and Rare Diseases

Wei Yang
Shujing Zu
Qiu Jin
Yu Liu
Chao Wang
Huimin Shen
Ruijing Wang
Hui Zhang
Meimei Liu

Frontiers in Genetics

doi 10.3389/fgene.2023.1237912

2,574 views
1 citation

Original Research

Published on 16 Aug 2023

Clinical features and morphology of collagen fibrils in patients with vascular Ehlers–Danlos based on electron microscopy

in Genetics of Common and Rare Diseases

Satoko Ishikawa
Shujiro Hayashi
Toshimi Sairenchi
Manabu Miyamoto
Shigemi Yoshihara
Gen Kobashi
Tomomi Yamaguchi
Tomoki Kosho
Ken Igawa

Frontiers in Genetics

doi 10.3389/fgene.2023.1238209

2,137 views
1 citation

Correction

Published on 15 Aug 2023

Corrigendum: A heterozygous mutation in NOTCH3 in a Chinese family with CADASIL

in Genetics of Common and Rare Diseases

Juyi Li
Tao Luo
Xiufang Wang
Mengjie Wang
Tao Zheng
Xiao Dang
Aiping Deng
Youzhi Zhang
Sheng Ding
Ping Jing

Frontiers in Genetics

doi 10.3389/fgene.2023.1273023

921 views

Case Report

Published on 10 Aug 2023

Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation

in Genetics of Common and Rare Diseases

Roberta Zuntini
Chiara Cattani
Lucia Pedace
Evelina Miele
Stefano Giuseppe Caraffi
Stefano Gardini
Elena Ficarelli
Simone Pizzi
Francesca Clementina Radio
Angelica Barone

Frontiers in Genetics

doi 10.3389/fgene.2023.1231434

2,107 views

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Articles

Establishing induced pluripotent stem cell lines from two dominant optic atrophy patients with distinct OPA1 mutations and clinical pathologies

Association of Calpain10 polymorphisms with polycystic ovarian syndrome susceptibility: a systematic review and meta-analysis with trial sequential analysis

Chinese patients with 3M syndrome: clinical manifestations and two novel pathogenic variants

Variable clinical expression of a Belgian TGFB3 founder variant suggests the presence of a genetic modifier

Case report: A case report and literature review of complete trisomy 9

Clinical and molecular delineation of classical-like Ehlers–Danlos syndrome through a comprehensive next-generation sequencing-based screening system

A novel homozygous variant in PADI6 is associate with human cleavage-stage embryonic arrest

A GATA3 gene mutation that causes incorrect splicing and HDR syndrome: a case study and literature review

Prenatal diagnosis and outcomes in 320 fetuses with nasal bone anomalies

Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD

Case report: A rare case of pyruvate kinase deficiency and Crigler-Najjar syndrome type II with a novel pathogenic variant of PKLR and UGT1A1 mutation

Unraveling haplotype errors in the DFNA33 locus

Fetal hyperechoic kidney cohort study and a meta-analysis

Clinical features and morphology of collagen fibrils in patients with vascular Ehlers–Danlos based on electron microscopy

Corrigendum: A heterozygous mutation in NOTCH3 in a Chinese family with CADASIL

Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation