Original Research

Published on 11 Jan 2024

Novel cis compound heterozygous variants in MYO6 causes early onset of non-syndromic hearing loss in a Chinese family

in Genetics of Common and Rare Diseases

Haiting Ji
Lichun Zhang
Hafiz Muhammad Jafar Hussain
Ayesha Aftab
Huiqian Yu
Min Xiao

Frontiers in Genetics

doi 10.3389/fgene.2023.1275633

1,609 views

Original Research

Published on 11 Jan 2024

Hereditary deafness carrier screening in 9,993 Chinese individuals

in Genetics of Common and Rare Diseases

Yanqiu Liu
Lei Wang
Lanlai Yuan
Yaqing Li
Zhengshi Chen
Bicheng Yang
Daqing Wang
Yu Sun

Frontiers in Genetics

doi 10.3389/fgene.2023.1327258

1,467 views
2 citations

Original Research

Published on 11 Jan 2024

Identification of gene mutations associated with type 1 diabetes by next-generation sequencing in affected Palestinian families

in Genetics of Common and Rare Diseases

Abrar Bawatneh
Alaa Darwish
Hasan Eideh
Hisham M. Darwish

Frontiers in Genetics

doi 10.3389/fgene.2023.1292073

3,383 views

Case Report

Published on 11 Jan 2024

Case Report: From epilepsy and uterus didelphys to Turner syndrome-associated dysgerminoma

in Genetics of Common and Rare Diseases

Jinghua Li
Haipeng Zhu
Xuelian Ma
Jia Li
Jing Xue
Limin Feng

Frontiers in Genetics

doi 10.3389/fgene.2023.1286515

1,562 views
1 citation

Review

Published on 10 Jan 2024

The burden of cystic fibrosis in North Africa

in Genetics of Common and Rare Diseases

Nada El Makhzen
Houria Daimi
Laila Bouguenouch
Hugues Abriel

Frontiers in Genetics

doi 10.3389/fgene.2023.1295008

3,028 views

Editorial

Published on 08 Jan 2024

Editorial: Genetics of inflammatory and immune diseases

in Genetics of Common and Rare Diseases

Tianyu Wang
Yunqing Ren
Xianyong Yin
Yonghu Sun

Frontiers in Genetics

doi 10.3389/fgene.2023.1355794

957 views

Original Research

Published on 08 Jan 2024

Characterization of cardiac involvement in patients with LMNA splice-site mutation–related dilated cardiomyopathy and sudden cardiac death

in Genetics of Common and Rare Diseases

Xuebin Ling
Yanjun Hou
Xingyu Jia
Youling Lan
Xiaoping Wu
Julan Wu
Wei Jie
Hui Liu
Shan Huang
Zhenling Wan

Frontiers in Genetics

doi 10.3389/fgene.2023.1291411

2,143 views
1 citation

Brief Research Report

Published on 05 Jan 2024

Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications

in Genetics of Common and Rare Diseases

Magdalena Krygier
Marta Pietruszka
Marta Zawadzka
Agnieszka Sawicka
Anna Lemska
Monika Limanówka
Jan Żurek
Weronika Talaśka-Liczbik
Maria Mazurkiewicz-Bełdzińska

Frontiers in Genetics

doi 10.3389/fgene.2023.1300952

3,482 views
3 citations

Brief Research Report

Published on 04 Jan 2024

Exploiting in silico structural analysis to introduce emerging genotype–phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study

in Genetics of Common and Rare Diseases

Dario Cocciadiferro
Tommaso Mazza
Davide Vecchio
Tommaso Biagini
Francesco Petrizzelli
Emanuele Agolini
Andrea Villani
Daniele Minervino
Diego Martinelli
Cristiano Rizzo

Frontiers in Genetics

doi 10.3389/fgene.2023.1307934

1,727 views
7 citations

General Commentary

Published on 22 Dec 2023

Commentary: 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

Filippo M. Panfili
Andrea Pietrobattista
Davide Vecchio
Michaela V. Gonfiantini
Andrea Bartuli
Marina Macchiaiolo

Frontiers in Genetics

doi 10.3389/fgene.2023.1255807

1,865 views

Case Report

Published on 20 Dec 2023

Importance of comprehensive genetic testing for patients with suspected vascular Ehlers–Danlos syndrome: a family case report and literature review

in Genetics of Common and Rare Diseases

Xianda Wei
Xu Zhou
BoBo Xie
Meizhen Shi
Chunrong Gui
Bo Liu
Caiyan Li
Chi Zhang
Jiefeng Luo
Cundong Mi

Frontiers in Genetics

doi 10.3389/fgene.2023.1246712

2,608 views
1 citation

Original Research

Published on 20 Dec 2023

Identification of two novel and one rare mutation in DYRK1A and prenatal diagnoses in three Chinese families with intellectual Disability-7

in Genetics of Common and Rare Diseases

Cheng Huang
Haiyan Luo
Baitao Zeng
Chuanxin Feng
Jia Chen
Huizhen Yuan
Shuhui Huang
Bicheng Yang
Yongyi Zou
Yanqiu Liu

Frontiers in Genetics

doi 10.3389/fgene.2023.1290949

2,304 views
3 citations

Case Report

Published on 18 Dec 2023

Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls

in Genetics of Common and Rare Diseases

Matthew M. Gayed
Paulo Sgobbi
Wladimir Bocca Viera De Rezende Pinto
Priya S. Kishnani
Rebecca L. Koch

Frontiers in Genetics

doi 10.3389/fgene.2023.1282790

2,453 views
2 citations

Original Research

Published on 18 Dec 2023

Whole exome sequencing reveals genetic landscape associated with left ventricular outflow tract obstruction in Chinese Han population

in Genetics of Common and Rare Diseases

Zilong Geng
Wenjuan Li
Ping Yang
Shasha Zhang
Shuo Wu
Junhao Xiong
Kun Sun
Dan Zhu
Sun Chen
Bing Zhang

Frontiers in Genetics

doi 10.3389/fgene.2023.1267368

2,322 views

Mini Review

Published on 14 Dec 2023

Incorporating CNV analysis improves the yield of exome sequencing for rare monogenic disorders—an important consideration for resource-constrained settings

in Genetics of Common and Rare Diseases

Nadja Louw
Nadia Carstens
Zané Lombard
for DDD-Africa as members of the H3Africa Consortium

Frontiers in Genetics

doi 10.3389/fgene.2023.1277784

3,219 views
5 citations

Original Research

Published on 14 Dec 2023

Whole-exome sequencing reveals novel variants of monogenic diabetes in Tunisia: impact on diagnosis and healthcare management

in Genetics of Common and Rare Diseases

Nadia Kheriji
Hamza Dallali
Ismail Gouiza
Meriem Hechmi
Faten Mahjoub
Mehdi Mrad
Asma Krir
Manel Soltani
Hajer Trabelsi
Walid Hamdi

Frontiers in Genetics

doi 10.3389/fgene.2023.1224284

2,203 views
1 citation

Navigation group

Articles

Novel cis compound heterozygous variants in MYO6 causes early onset of non-syndromic hearing loss in a Chinese family

Hereditary deafness carrier screening in 9,993 Chinese individuals

Identification of gene mutations associated with type 1 diabetes by next-generation sequencing in affected Palestinian families

Case Report: From epilepsy and uterus didelphys to Turner syndrome-associated dysgerminoma

The burden of cystic fibrosis in North Africa

Editorial: Genetics of inflammatory and immune diseases

Characterization of cardiac involvement in patients with LMNA splice-site mutation–related dilated cardiomyopathy and sudden cardiac death

Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications

Exploiting in silico structural analysis to introduce emerging genotype–phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study

Commentary: Case report: Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) presenting with liver cirrhosis and steroid-responsive interstitial pneumonia

Importance of comprehensive genetic testing for patients with suspected vascular Ehlers–Danlos syndrome: a family case report and literature review

Identification of two novel and one rare mutation in DYRK1A and prenatal diagnoses in three Chinese families with intellectual Disability-7

Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls

Whole exome sequencing reveals genetic landscape associated with left ventricular outflow tract obstruction in Chinese Han population

Incorporating CNV analysis improves the yield of exome sequencing for rare monogenic disorders—an important consideration for resource-constrained settings

Whole-exome sequencing reveals novel variants of monogenic diabetes in Tunisia: impact on diagnosis and healthcare management