Original Research

Published on 06 Nov 2024

A polygenic risk score model for psoriasis based on the protein interactions of psoriasis susceptibility loci

in Genetics of Common and Rare Diseases

Charalabos Antonatos
Fotios Koskeridis
Christiana M. Ralliou
Evangelos Evangelou
Katerina Grafanaki
Sophia Georgiou
Konstantinos K. Tsilidis
Ioanna Tzoulaki
Yiannis Vasilopoulos

Frontiers in Genetics

doi 10.3389/fgene.2024.1451679

409 views

Original Research

Published on 01 Nov 2024

An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype

in Genetics of Common and Rare Diseases

Cristina Lucia-Campos
Ilaria Parenti
Ana Latorre-Pellicer
Marta Gil-Salvador
Ilaria Bestetti
Palma Finelli
Lidia Larizza
María Arnedo
Ariadna Ayerza-Casas
Julia Del Rincón

Frontiers in Genetics

doi 10.3389/fgene.2024.1472543

426 views

Original Research

Published on 01 Nov 2024

Comparison of long-read sequencing and MLPA combined with long-PCR sequencing of CYP21A2 mutations in patients with 21-OHD

in Genetics of Common and Rare Diseases

Tian Lan
Jin Wang
Kaibi Chen
Jianru Zhang
Xiaohong Chen
Hui Yao

Frontiers in Genetics

doi 10.3389/fgene.2024.1472516

264 views

Original Research

Published on 01 Nov 2024

Prenatal detection of novel compound heterozygous variants of the PLD1 gene in a fetus with congenital heart disease

in Genetics of Common and Rare Diseases

Linyan Zhu
Mei Chen
Yubo Shi
Xiaxi Huang
Huiqing Ding

Frontiers in Genetics

doi 10.3389/fgene.2024.1498485

297 views

Original Research

Published on 01 Nov 2024

Bioinformatical analysis and experimental validation of endoplasmic reticulum stress-related biomarker genes in type 2 diabetes mellitus

in Genetics of Common and Rare Diseases

Lili Yao
Jie Xu
Xu Zhang
Zhuqi Tang
Yuqing Chen
Xiaoyu Liu
Xuchu Duan

Frontiers in Genetics

doi 10.3389/fgene.2024.1445033

407 views

Case Report

Accepted on 30 Oct 2024

Atypical motor development in a patient with the mosaic form of Down Syndrome and spinal muscular atrophy type 2-long-term observation

in Genetics of Common and Rare Diseases

Ewa Gajewska
Jędrzej Fliciński
Magdalena Sobieska
Joanna Michalska
Marcin Zarowski
Barbara Steinborn

Frontiers in Genetics

doi 10.3389/fgene.2024.1483903

Original Research

Published on 30 Oct 2024

Identification of m5C-Related gene diagnostic biomarkers for sepsis: a machine learning study

in Genetics of Common and Rare Diseases

Siming Lin
Kexin Cai
Shaodan Feng
Zhihong Lin

Frontiers in Genetics

doi 10.3389/fgene.2024.1444003

514 views

Original Research

Accepted on 28 Oct 2024

Novel Pathogenic ATM Mutation with Ataxia-Telangiectasia in a Chinese Family

in Genetics of Common and Rare Diseases

Qiaomin Zhou
Minling Chen
Enfu Tao

Frontiers in Genetics

doi 10.3389/fgene.2024.1491649

Original Research

Published on 28 Oct 2024

Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation

in Genetics of Common and Rare Diseases

Elena Kondratyeva
Yuliya Melyanovskaya
Victoriya Sherman
Anna Voronkova
Elena Zhekaite
Stanislav Krasovsky
Elena Amelina
Nataliya Kashirskaya
Vera Shadrina
Alexander Polyakov

Frontiers in Genetics

doi 10.3389/fgene.2024.1383033

390 views

Case Report

Published on 23 Oct 2024

Case report: Adult patient with WWOX developmental and epileptic encephalopathy: 40 years of observation

in Genetics of Common and Rare Diseases

Anna Teplyshova
Artem Sharkov

Frontiers in Genetics

doi 10.3389/fgene.2024.1477466

446 views

Correction

Published on 21 Oct 2024

Corrigendum: Chronic systemic capillary leak syndrome with lymphatic capillaries involvement and MYOF mutation: case report and literature review

in Genetics of Common and Rare Diseases

Dehua Gao
Wen Zhong
Weiru Zhang
Xuan Wang
Weiping Li
Jun Liu

Frontiers in Genetics

doi 10.3389/fgene.2024.1506453

280 views

Original Research

Published on 21 Oct 2024

Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families

in Genetics of Common and Rare Diseases

Larissa Nascimento Antunes
Alex Marcel Moreira Dias
Beatriz Cetalle Schiavo
Beatriz C. A. Mendes
Debora Romeo Bertola
Karina Lezirovitz
Regina Célia Mingroni-Netto

Frontiers in Genetics

doi 10.3389/fgene.2024.1409306

548 views

Case Report

Published on 18 Oct 2024

Case Report: An association of left ventricular outflow tract obstruction with 5p deletions

in Genetics of Common and Rare Diseases

Kira Mascho
Svetlana A. Yatsenko
Cecilia W. Lo
Xinxiu Xu
Jennifer Johnson
Lindsey R. Helvaty
Stephanie Burns Wechsler
Chaya N. Murali
Seema R. Lalani
Vidu Garg

Frontiers in Genetics

doi 10.3389/fgene.2024.1451746

335 views

Brief Research Report

Accepted on 16 Oct 2024

Case report: Novel CNGA3 compound heterozygous variants cause achromatopsia in three patients from a family

in Genetics of Common and Rare Diseases

Xiaoqiang Zhou
Yasi Zhou
Shuijuan Wu
Xiao Ling Guo
Liangfeng Yao
Xingkun Yang

Frontiers in Genetics

doi 10.3389/fgene.2024.1457569

Case Report

Published on 16 Oct 2024

Case report: Successful PGT-M based on the identification of a spliceogenic variant in the RPGRIP1L gene through Minigene assay

in Genetics of Common and Rare Diseases

Huiling Xu
Jiajie Pu
Zhengzhong Wu
Shuhan Guo
Xuemei Li

Frontiers in Genetics

doi 10.3389/fgene.2024.1456293

392 views

Original Research

Published on 15 Oct 2024

Preimplantation genetic testing for Cockayne syndrome with a novel ERCC6 variant in a Chinese family

in Genetics of Common and Rare Diseases

Xuemei He
Yiyuan Zhang
Xianjing Huang
Pingping Qiu
Hong Ji
Lu Ding
Yingying Shi
Yanru Huang
Ping Li
Libin Mei

Frontiers in Genetics

doi 10.3389/fgene.2024.1435622

510 views

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Articles

A polygenic risk score model for psoriasis based on the protein interactions of psoriasis susceptibility loci

An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype

Comparison of long-read sequencing and MLPA combined with long-PCR sequencing of CYP21A2 mutations in patients with 21-OHD

Prenatal detection of novel compound heterozygous variants of the PLD1 gene in a fetus with congenital heart disease

Bioinformatical analysis and experimental validation of endoplasmic reticulum stress-related biomarker genes in type 2 diabetes mellitus

Atypical motor development in a patient with the mosaic form of Down Syndrome and spinal muscular atrophy type 2-long-term observation

Identification of m5C-Related gene diagnostic biomarkers for sepsis: a machine learning study

Novel Pathogenic ATM Mutation with Ataxia-Telangiectasia in a Chinese Family

Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation

Case report: Adult patient with WWOX developmental and epileptic encephalopathy: 40 years of observation

Corrigendum: Chronic systemic capillary leak syndrome with lymphatic capillaries involvement and MYOF mutation: case report and literature review

Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families

Case Report: An association of left ventricular outflow tract obstruction with 5p deletions

Case report: Novel CNGA3 compound heterozygous variants cause achromatopsia in three patients from a family

Case report: Successful PGT-M based on the identification of a spliceogenic variant in the RPGRIP1L gene through Minigene assay

Preimplantation genetic testing for Cockayne syndrome with a novel ERCC6 variant in a Chinese family