Frontiers in Genetics | Genetics of Common and Rare Diseases

Case Report

Published on 04 Sep 2024

Case report: A novel TLK2 variant with a neuropsychiatric phenotype from a Chinese family

in Genetics of Common and Rare Diseases

Hongmei Huang
Yue Qian
Chenlu Yang
Shijie Li

Frontiers in Genetics

doi 10.3389/fgene.2024.1419027

2,762 views

Case Report

Published on 02 Sep 2024

Case report: Second report of neuromuscular syndrome caused by biallelic variants in ASCC3

in Genetics of Common and Rare Diseases

Wang Li
Zhongliang Li
Junhui Fu
Kaili Xu
Daoqi Mei
Xiaona Wang
Taisong Li
Xilong Du

Frontiers in Genetics

doi 10.3389/fgene.2024.1382275

2,568 views
1 citation

Correction

Published on 30 Aug 2024

Corrigendum: Evidence for a genetic contribution to the ossification of spinal ligaments in ossification of posterior longitudinal ligament and diffuse idiopathic skeletal hyperostosis: a narrative review

in Genetics of Common and Rare Diseases

Ana Rita Couto
Bruna Parreira
Deborah M. Power
Luís Pinheiro
João Madruga Dias
Irina Novofastovski
Iris Eshed
Piercarlo Sarzi-Puttini
Nicola Pappone
Fabiola Atzeni

Frontiers in Genetics

doi 10.3389/fgene.2024.1477788

1,540 views

Original Research

Published on 30 Aug 2024

Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis

in Genetics of Common and Rare Diseases

Jamil Amjad Hashmi
Muhammad Latif
Reham M. Balahmar
Muhammad Zeeshan Ali
Fatima Alfadhli
Muzammil Ahmad Khan
Sulman Basit

Frontiers in Genetics

doi 10.3389/fgene.2024.1421943

2,873 views

Original Research

Published on 20 Aug 2024

Identification of biallelic mutations in MCM3AP and comprehensive literature analysis

in Genetics of Common and Rare Diseases

Chan Liu
Qingfeng Xie
Quan Hu
Bingwu Xiang
Kaiyi Zhao
Xiang Chen
Feixia Zheng

Frontiers in Genetics

doi 10.3389/fgene.2024.1405644

2,075 views

Original Research

Published on 20 Aug 2024

Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene

in Genetics of Common and Rare Diseases

Michela Di Nottia
Teresa Rizza
Enrico Baruffini
Claudia Nesti
Alessandra Torraco
Daria Diodato
Diego Martinelli
Flavio Dal Canto
Alexandru Ionut Gilea
Martina Zoccola

Frontiers in Genetics

doi 10.3389/fgene.2024.1437959

3,273 views

Systematic Review

Published on 20 Aug 2024

Association between vitamin D receptor gene polymorphisms and susceptibility to tuberculosis: a systematic review and meta-analysis

in Genetics of Common and Rare Diseases

Rongshan Tao
Shujuan Xiao
Lianping Wang
Chunjie Hu
Huiqin Suo
Ruiyu Long
Hangyu Liu
Wei Luo
Feng Hong
Jingming Zhao

Frontiers in Genetics

doi 10.3389/fgene.2024.1382957

2,986 views
3 citations

Case Report

Published on 16 Aug 2024

HNF1β, LHX1, and GGNBP2 deletion contributed to kidney and reproductive dysfunction in 17q12 deletion syndrome: evidence from a case report

in Genetics of Common and Rare Diseases

Chun-Yu Song
Jing Yang
Sheng Jiang
Guo-Li Du

Frontiers in Genetics

doi 10.3389/fgene.2024.1391804

2,441 views
2 citations

Case Report

Published on 16 Aug 2024

Clinical phenotype of the 16p.13.11 microdeletion: a case report with a mini review of the literature

in Genetics of Common and Rare Diseases

Roberto Palumbi
Emanuela Ponzi
Stefania Micella
Mara Pascali
Roberta Bucci
Mattia Gentile
Lucia Margari
Marta Simone

Frontiers in Genetics

doi 10.3389/fgene.2024.1429185

9,559 views
6 citations

Original Research

Published on 16 Aug 2024

Novel WFS1 variants are associated with different diabetes phenotypes

in Genetics of Common and Rare Diseases

Lei Wu
Juan Zhang
Danjie Li
Zhongyun Zhang
Qicheng Ni
Rulai Han
Lei Ye
Yifei Zhang
Jie Hong
Weiqing Wang

Frontiers in Genetics

doi 10.3389/fgene.2024.1433060

4,059 views

Case Report

Published on 14 Aug 2024

Case report: First diagnosis of Fabry disease in North Macedonia in a patient presenting with kidney failure on hemodialysis

in Genetics of Common and Rare Diseases

Nikola Gjorgjievski
Vlatko Karanfilovski
Todor Arsov
Pavlina Dzekova Vidimliski
Galisna Severeova Andreevska
Gjulshen Selim
Petar Dejanov
Vasilena Jordanova
Ivelina Marinova
Emil Paskalev

Frontiers in Genetics

doi 10.3389/fgene.2024.1415906

2,871 views

Original Research

Published on 14 Aug 2024

Genomic insights into prenatal diagnosis of congenital heart defects: value of CNV-seq and WES in clinical practice

in Genetics of Common and Rare Diseases

Shiyu Sun
Yizhen Ji
Di Shao
Yasong Xu
Xiaomei Yang
Li Sun
Nan Li
Hui Huang
Qichang Wu

Frontiers in Genetics

doi 10.3389/fgene.2024.1448383

4,571 views
7 citations

Case Report

Published on 13 Aug 2024

Cases report: Mosaic structural variants of the EXT1 gene in previously genetically unconfirmed multiple osteochondromas

in Genetics of Common and Rare Diseases

Artem Borovikov
Andrey Marakhonov
Aysylu Murtazina
Kseniya Davydenko
Alexandra Filatova
Nailya Galeeva
Varvara Kadnikova
Natalya Ogorodova
Daria Gorodilova
Ilya Kanivets

Frontiers in Genetics

doi 10.3389/fgene.2024.1435493

1,971 views
1 citation

Case Report

Published on 13 Aug 2024

Asymmetric scapuloperoneal phenotype of MATR3-related distal myopathy: case series

in Genetics of Common and Rare Diseases

Aysylu Murtazina
Dmitrii Subbotin
Anna Kuchina
Olga Gilvanova
Daniil Degterev
Olga Shchagina
Tatiana Cherevatova
Maria Bulakh
Darya Sherstyukova
Oksana Ryzhkova

Frontiers in Genetics

doi 10.3389/fgene.2024.1414928

2,578 views

Case Report

Published on 12 Aug 2024

Fahr’s syndrome as the initial imaging characteristics of MELAS syndrome with a possible seizure activity and cardiac arrest: a case report

in Genetics of Common and Rare Diseases

Yan Zheng
Haohao Wu
Meng Zhang
Baogang Huang
Junsu Yang
Chuan Liu
Hanmin Wang
Kang Du

Frontiers in Genetics

doi 10.3389/fgene.2024.1393158

2,586 views
2 citations

Case Report

Published on 12 Aug 2024

Case report: A novel mutation of the CAPN3 gene in a Chinese family with limb-girdle muscular dystrophy type 2A

in Genetics of Common and Rare Diseases

Wanjun Feng
Yanyan Cao
Ruolin Ren
Xiaohui Yang
Chunyan Cao
Hongwei Jiang
Ganqin Du

Frontiers in Genetics

doi 10.3389/fgene.2024.1410727

3,201 views

Brief Research Report

Published on 12 Aug 2024

Four novel variants identified in the ACADVL gene causing very-long-chain acyl-coenzyme A dehydrogenase deficiency in four unrelated Chinese families

in Genetics of Common and Rare Diseases

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

Frontiers in Genetics

doi 10.3389/fgene.2024.1433160

3,756 views
2 citations

Review

Published on 12 Aug 2024

Acute intermittent porphyria: a disease with low penetrance and high heterogeneity

in Genetics of Common and Rare Diseases

Jia-Jia Lei
Shuang Li
Bai-Xue Dong
Jing Yang
Yi Ren

Frontiers in Genetics

doi 10.3389/fgene.2024.1374965

5,367 views
3 citations

Original Research

Published on 09 Aug 2024

Analyzing three pedigrees in X-linked Alport syndrome with the presentation of nephrotic syndrome

in Genetics of Common and Rare Diseases

Jian-Hui Zhang
Jie Liu
Dan-Dan Ruan
Qian Chen
Jie Yang
Min Wu
Hong-Ping Yu
Li-Sheng Liao
Xiao-Ling Zheng
Jie-Wei Luo

Frontiers in Genetics

doi 10.3389/fgene.2024.1419154

2,409 views

Case Report

Published on 09 Aug 2024

Case Report: Whole exome sequencing identifies compound heterozygous variants in the TRAPPC9 gene in a child with developmental delay

in Genetics of Common and Rare Diseases

Bingxuan Yu
Jing Chen
Shuo Yang
He Wang
Yuanyuan Xiao
Shanling Liu

Frontiers in Genetics

doi 10.3389/fgene.2024.1415194

2,295 views
2 citations

Original Research

Published on 08 Aug 2024

Using preimplantation genetic testing for monogenic disease for preventing citrullinemia type 1 transmission

in Genetics of Common and Rare Diseases

Zubo Wu
Tao Liang
Yi Liu
Xiaofang Ding
Defeng Shu

Frontiers in Genetics

doi 10.3389/fgene.2024.1389461

2,172 views
1 citation

Mini Review

Published on 08 Aug 2024

The role of primary cilia in congenital heart defect-associated neurological impairments

in Genetics of Common and Rare Diseases

Nemanja Sarić
Nobuyuki Ishibashi

Frontiers in Genetics

doi 10.3389/fgene.2024.1460228

2,840 views
1 citation

Original Research

Published on 06 Aug 2024

Genetic testing and human leukocyte antigen in patients with hypertrophic cardiomyopathy and connective tissue diseases

in Genetics of Common and Rare Diseases

Daigo Hiraya
Nobuyuki Murakoshi
Miyako Igarashi
DongZhu Xu
Tomoko Ishizu

Frontiers in Genetics

doi 10.3389/fgene.2024.1432670

2,309 views

Review

Published on 02 Aug 2024

Molecular mechanisms and genetic factors contributing to the developmental dysplasia of the hip

in Genetics of Common and Rare Diseases

Xiaoming Zhao
Shuai Liu
Zhonghua Yang
Yong Li

Frontiers in Genetics

doi 10.3389/fgene.2024.1413500

4,958 views
3 citations

1,993 articles

articles

Case report: A novel TLK2 variant with a neuropsychiatric phenotype from a Chinese family

Case report: Second report of neuromuscular syndrome caused by biallelic variants in ASCC3

Corrigendum: Evidence for a genetic contribution to the ossification of spinal ligaments in ossification of posterior longitudinal ligament and diffuse idiopathic skeletal hyperostosis: a narrative review

Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis

Identification of biallelic mutations in MCM3AP and comprehensive literature analysis

Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene

Association between vitamin D receptor gene polymorphisms and susceptibility to tuberculosis: a systematic review and meta-analysis

HNF1β, LHX1, and GGNBP2 deletion contributed to kidney and reproductive dysfunction in 17q12 deletion syndrome: evidence from a case report

Clinical phenotype of the 16p.13.11 microdeletion: a case report with a mini review of the literature

Novel WFS1 variants are associated with different diabetes phenotypes

Case report: First diagnosis of Fabry disease in North Macedonia in a patient presenting with kidney failure on hemodialysis

Genomic insights into prenatal diagnosis of congenital heart defects: value of CNV-seq and WES in clinical practice

Cases report: Mosaic structural variants of the EXT1 gene in previously genetically unconfirmed multiple osteochondromas

Asymmetric scapuloperoneal phenotype of MATR3-related distal myopathy: case series

Fahr’s syndrome as the initial imaging characteristics of MELAS syndrome with a possible seizure activity and cardiac arrest: a case report

Case report: A novel mutation of the CAPN3 gene in a Chinese family with limb-girdle muscular dystrophy type 2A

Four novel variants identified in the ACADVL gene causing very-long-chain acyl-coenzyme A dehydrogenase deficiency in four unrelated Chinese families

Acute intermittent porphyria: a disease with low penetrance and high heterogeneity

Analyzing three pedigrees in X-linked Alport syndrome with the presentation of nephrotic syndrome

Case Report: Whole exome sequencing identifies compound heterozygous variants in the TRAPPC9 gene in a child with developmental delay

Using preimplantation genetic testing for monogenic disease for preventing citrullinemia type 1 transmission

The role of primary cilia in congenital heart defect-associated neurological impairments

Genetic testing and human leukocyte antigen in patients with hypertrophic cardiomyopathy and connective tissue diseases

Molecular mechanisms and genetic factors contributing to the developmental dysplasia of the hip