Frontiers in Genetics | Genetics of Common and Rare Diseases

Case Report

Published on 09 Sep 2024

Case report: Whole exome sequencing reveals a novel splicing variant of ANKRD17 gene in a Chinese male juvenile with developmental delay and transient tic disorder

in Genetics of Common and Rare Diseases

Jing Chen
Shuo Yang
He Wang
Hongjing Wang
Yuanyuan Xiao
Shanling Liu

Frontiers in Genetics

doi 10.3389/fgene.2024.1422469

1,496 views

Brief Research Report

Published on 09 Sep 2024

De novo and inherited micro-CNV at 16p13.11 in 21 Chinese patients with defective cardiac left-right patterning

in Genetics of Common and Rare Diseases

Kun Yu
Weicheng Chen
Yan Chen
Libing Shen
Boxuan Wu
Yuan Zhang
Xiangyu Zhou

Frontiers in Genetics

doi 10.3389/fgene.2024.1458953

1,908 views
1 citation

Original Research

Published on 05 Sep 2024

Development and clinical validation of a novel detection kit for α-thalassemia in southern Chinese

in Genetics of Common and Rare Diseases

Yi-Yuan Ge
Jun Xie
Yu-Wei Liao
Long-Xu Xie
Li-Ye Yang

Frontiers in Genetics

doi 10.3389/fgene.2024.1457248

1,489 views

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

1,842 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

1,694 views

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

1,061 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

1,961 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

1,266 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

1,951 views
3 citations

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

2,302 views

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

1,596 views

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

5,306 views
1 citation

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

2,343 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

1,999 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

2,961 views
3 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

1,339 views
1 citation