Frontiers in Genetics | Genetics of Common and Rare Diseases

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

4,488 views
8 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

2,549 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

1,421 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

7,688 views
6 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

1,527 views
2 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

6,293 views
7 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

4,212 views
5 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

2,616 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

2,081 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

2,695 views
1 citation

Original Research

Published on 29 Jan 2024

Evaluation of genetic variants related to lipid levels among the North Indian population

in Genetics of Common and Rare Diseases

Gagandeep Kaur Walia
Jeemon Panniyammakal
Tripti Agarwal
Ruchita Jalal
Ruby Gupta
Lakshmy Ramakrishnan
Nikhil Tandon
Ambuj Roy
Anand Krishnan
Dorairaj Prabhakaran

Frontiers in Genetics

doi 10.3389/fgene.2023.1234693

1,944 views

Original Research

Published on 29 Jan 2024

Deciphering the molecular classification of pediatric sepsis: integrating WGCNA and machine learning-based classification with immune signatures for the development of an advanced diagnostic model

in Genetics of Common and Rare Diseases

Junming Huang
Jinji Chen
Chengbang Wang
Lichuan Lai
Hua Mi
Shaohua Chen

Frontiers in Genetics

doi 10.3389/fgene.2024.1294381

2,700 views
2 citations

Original Research

Published on 29 Jan 2024

Risk and protection of different rare protein-coding variants of complement component C4A in age-related macular degeneration

in Genetics of Common and Rare Diseases

Johanna M. Seddon
Dikha De
William Casazza
Shun-Yun Cheng
Claudio Punzo
Mark Daly
Danlei Zhou
Samantha L. Coss
John P. Atkinson
Chack-Yung Yu

Frontiers in Genetics

doi 10.3389/fgene.2023.1274743

2,430 views
2 citations

Original Research

Published on 29 Jan 2024

A novel CTBP1 variant in a Chinese pediatric patient with a phenotype distinct from hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome

in Genetics of Common and Rare Diseases

Qiang Zhang
Yusi Liu
Xuan Liu
Yue Zhao
Jihong Zhang

Frontiers in Genetics

doi 10.3389/fgene.2024.1344682

1,822 views

Original Research

Published on 24 Jan 2024

Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico

in Genetics of Common and Rare Diseases

Paula Leal-Anaya
Tamara N. Kimball
Ana Lucia Yanez-Felix
Moisés Ó. Fiesco-Roa
Benilde García-de Teresa
Angélica Monsiváis
Rocío Juárez-Velázquez
Esther Lieberman
Camilo Villarroel
Emiy Yokoyama

Frontiers in Genetics

doi 10.3389/fgene.2023.1293929

4,830 views
1 citation

Original Research

Published on 22 Jan 2024

The value of genome-wide analysis in craniosynostosis

in Genetics of Common and Rare Diseases

Alexandra Topa
Anna Rohlin
André Fehr
Lovisa Lovmar
Göran Stenman
Peter Tarnow
Giovanni Maltese
Madiha Bhatti-Søfteland
Lars Kölby

Frontiers in Genetics

doi 10.3389/fgene.2023.1322462

5,202 views
6 citations