Frontiers in Genetics | Genetics of Common and Rare Diseases

Original Research

Published on 26 Mar 2024

Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype

in Genetics of Common and Rare Diseases

Maria Mabyalwa Mudau
Bronwyn Dillon
Clarice Smal
Candice Feben
Engela Honey
Nadia Carstens
Amanda Krause

Frontiers in Genetics

doi 10.3389/fgene.2024.1331278

2,622 views
1 citation

Review

Published on 26 Mar 2024

The complex landscape of DMD mutations: moving towards personalized medicine

in Genetics of Common and Rare Diseases

Francesca Gatto
Silvia Benemei
Giulio Piluso
Luca Bello

Frontiers in Genetics

doi 10.3389/fgene.2024.1360224

6,118 views
6 citations

Original Research

Published on 20 Mar 2024

The genetic landscape of autism spectrum disorder in the Middle Eastern population

in Genetics of Common and Rare Diseases

Yasser Al-Sarraj
Rowaida Z. Taha
Eman Al-Dous
Dina Ahram
Somayyeh Abbasi
Eman Abuazab
Hibah Shaath
Wesal Habbab
Khaoula Errafii‬
Yosra Bejaoui

Frontiers in Genetics

doi 10.3389/fgene.2024.1363849

7,174 views
3 citations

Original Research

Published on 18 Mar 2024

Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis

in Genetics of Common and Rare Diseases

Florencia Brito
Catalina Lagos
Jessica Cubillos
Joan Orellana
Mallen Gajardo
Daniela Böhme
Gonzalo Encina
Gabriela M. Repetto

Frontiers in Genetics

doi 10.3389/fgene.2024.1278198

3,031 views

Original Research

Published on 06 Mar 2024

Elucidating the role of TWIST1 in ulcerative colitis: a comprehensive bioinformatics and machine learning approach

in Genetics of Common and Rare Diseases

Wenjie Ou
Zhaoxue Qi
Ning Liu
Junzi Zhang
Xuguang Mi
Yuan Song
Yanqiu Fang
Baiying Cui
Junjie Hou
Zhixin Yuan

Frontiers in Genetics

doi 10.3389/fgene.2024.1296570

3,021 views
1 citation

Review

Published on 04 Mar 2024

Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus

in Genetics of Common and Rare Diseases

Nicholas Kim-Wah Yeo
Che Kang Lim
Katherine Nay Yaung
Nicholas Kim Huat Khoo
Thaschawee Arkachaisri
Salvatore Albani
Joo Guan Yeo

Frontiers in Genetics

doi 10.3389/fgene.2024.1341272

3,190 views
1 citation

Original Research

Published on 29 Feb 2024

Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature

in Genetics of Common and Rare Diseases

Emma M. J. Passchier
Quinty Bisseling
Guy Helman
Rosalina M. L. van Spaendonk
Cas Simons
René C. L. Olsthoorn
Hieke van der Veen
Truus E. M. Abbink
Marjo S. van der Knaap
Rogier Min

Frontiers in Genetics

doi 10.3389/fgene.2024.1352947

3,944 views
7 citations

Brief Research Report

Published on 26 Feb 2024

Functional polymorphisms of NOS3 and GUCY1A3 affect both nitric oxide formation and association with hypertensive disorders of pregnancy

in Genetics of Common and Rare Diseases

Daniela A. Pereira
Marcelo R. Luizon
Ana C. Palei
José E. Tanus-Santos
Ricardo C. Cavalli
Valeria C. Sandrim

Frontiers in Genetics

doi 10.3389/fgene.2024.1293082

2,367 views
2 citations

Correction

Published on 15 Feb 2024

Corrigendum: Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson–Fabry disease

in Genetics of Common and Rare Diseases

Irene Simonetta
Renata Riolo
Federica Todaro
Vincenzo Donadio
Alex Incensi
Salvatore Miceli
Paolo Colomba
Giovanni Duro
Antonino Tuttolomondo

Frontiers in Genetics

doi 10.3389/fgene.2024.1368953

1,365 views

Mini Review

Published on 15 Feb 2024

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

in Genetics of Common and Rare Diseases

Bianca Panis
E. Naomi Vos
Ivo Barić
Annet M. Bosch
Martijn C. G. J. Brouwers
Alberto Burlina
David Cassiman
David J. Coman
María L. Couce
Anibh M. Das

Frontiers in Genetics

doi 10.3389/fgene.2024.1355962

6,900 views
6 citations

Review

Published on 12 Feb 2024

MECP2-related disorders while gene-based therapies are on the horizon

in Genetics of Common and Rare Diseases

Katherine Allison
Mirjana Maletic-Savatic
Davut Pehlivan

Frontiers in Genetics

doi 10.3389/fgene.2024.1332469

5,531 views
5 citations

Original Research

Published on 12 Feb 2024

Novel FOXL2 variants in two Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome

in Genetics of Common and Rare Diseases

Mingyu Zhao
Xiaolu Meng
Jiaqi Wang
Tailing Wang

Frontiers in Genetics

doi 10.3389/fgene.2024.1343411

1,414 views
2 citations

Original Research

Published on 12 Feb 2024

Spectrum of genetic variants in bilateral sensorineural hearing loss

in Genetics of Common and Rare Diseases

Amanat Ali
Mohammed Tabouni
Praseetha Kizhakkedath
Ibrahim Baydoun
Mushal Allam
Anne John
Faiza Busafared
Ayesha Alnuaimi
Fatma Al-Jasmi
Hiba Alblooshi

Frontiers in Genetics

doi 10.3389/fgene.2024.1314535

3,721 views
4 citations

Case Report

Published on 09 Feb 2024

Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis

in Genetics of Common and Rare Diseases

Valeria A. Zagaynova
Yulia A. Nasykhova
Ziravard N. Tonyan
Maria M. Danilova
Natalya M. Dvoynova
Tatyana E. Lazareva
Tatyana E. Ivashchenko
Elena S. Shabanova
Inna O. Krikheli
Elena A. Lesik

Frontiers in Genetics

doi 10.3389/fgene.2024.1344051

2,496 views

Original Research

Published on 06 Feb 2024

Prevalence of inherited metabolic disorders among newborns in Zhuzhou, a southern city in China

in Genetics of Common and Rare Diseases

Hunjin Luo
Jiqing Wang
Junfeng Chen
Huijian Yi
Xiaodong Yang
Yao Peng
Liu Ni
Yi-Qiong Yang
Xiao-Min Zhang
Hongping Huang

Frontiers in Genetics

doi 10.3389/fgene.2024.1197151

1,864 views
1 citation

Case Report

Published on 31 Jan 2024

Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome

in Genetics of Common and Rare Diseases

Carmen Manso-Bazús
Nino Spataro
Elisabeth Gabau
Viviana P. Beltrán-Salazar
Juan Pablo Trujillo-Quintero
Nuria Capdevila
Anna Brunet-Vega
Neus Baena
A Arockia Jeyaprakash
Victor Martinez-Glez

Frontiers in Genetics

doi 10.3389/fgene.2024.1291063

2,562 views
1 citation