Frontiers in Genetics | Genetics of Common and Rare Diseases

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

2,834 views
2 citations

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

2,024 views

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

1,901 views

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

2,564 views
2 citations

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

4,990 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

5,452 views
6 citations

Original Research

Published on 19 Jan 2024

Real-world outcomes from a series of patients with late onset Pompe disease who switched from alglucosidase alfa to avalglucosidase alfa

in Genetics of Common and Rare Diseases

Chris Carter
Tracy Boggs
Laura E. Case
Priya Kishnani

Frontiers in Genetics

doi 10.3389/fgene.2024.1309146

6,784 views
6 citations

Case Report

Published on 15 Jan 2024

Case report: The evolving phenotype of ESCO2 spectrum disorder in a 15-year-old Malaysian child

in Genetics of Common and Rare Diseases

Sok-Kun Tae
Mazlan RA
Meow-Keong Thong

Frontiers in Genetics

doi 10.3389/fgene.2023.1286489

1,837 views

Study Protocol

Published on 12 Jan 2024

Selective screening for inborn errors of metabolism using tandem mass spectrometry in West Kazakhstan children: study protocol

in Genetics of Common and Rare Diseases

Gulmira Zharmakhanova
Victoria Kononets
Saule Balmagambetova
Lyazzat Syrlybayeva
Eleonora Nurbaulina
Zhanna Zhussupova
Svetlana Sakhanova
Dinmukhamed Ayaganov
Svetlana Kim
Akmaral Zhumalina

Frontiers in Genetics

doi 10.3389/fgene.2023.1278750

4,032 views
3 citations

Original Research

Published on 12 Jan 2024

Loss-of-function variant in the LRR domain of SLITRK2 implicated in a neurodevelopmental disorder

in Genetics of Common and Rare Diseases

Tayyaba Afsar
Hongxia Fu
Hammal Khan
Zain Ali
Zamrud Zehri
Gohar Zaman
Safdar Abbas
Arif Mahmood
Qamre Alam
Junjian Hu

Frontiers in Genetics

doi 10.3389/fgene.2023.1308116

2,968 views
1 citation

Original Research

Published on 12 Jan 2024

Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing

in Genetics of Common and Rare Diseases

Ismail Gouiza
Meriem Hechmi
Abir Zioudi
Hamza Dallali
Nadia Kheriji
Majida Charif
Morgane Le Mao
Said Galai
Lilia Kraoua
Ilhem Ben Youssef-Turki

Frontiers in Genetics

doi 10.3389/fgene.2023.1259826

2,969 views
2 citations

Original Research

Published on 11 Jan 2024

Genetics and clinical phenotypes in common variable immunodeficiency

in Genetics of Common and Rare Diseases

Charlotte Cunningham-Rundles
Jean-Laurent Casanova
Bertrand Boisson

Frontiers in Genetics

doi 10.3389/fgene.2023.1272912

7,251 views
19 citations

Original Research

Published on 11 Jan 2024

Novel cis compound heterozygous variants in MYO6 causes early onset of non-syndromic hearing loss in a Chinese family

in Genetics of Common and Rare Diseases

Haiting Ji
Lichun Zhang
Hafiz Muhammad Jafar Hussain
Ayesha Aftab
Huiqian Yu
Min Xiao

Frontiers in Genetics

doi 10.3389/fgene.2023.1275633

2,293 views

Original Research

Published on 11 Jan 2024

Hereditary deafness carrier screening in 9,993 Chinese individuals

in Genetics of Common and Rare Diseases

Yanqiu Liu
Lei Wang
Lanlai Yuan
Yaqing Li
Zhengshi Chen
Bicheng Yang
Daqing Wang
Yu Sun

Frontiers in Genetics

doi 10.3389/fgene.2023.1327258

2,196 views
5 citations

Original Research

Published on 11 Jan 2024

Identification of gene mutations associated with type 1 diabetes by next-generation sequencing in affected Palestinian families

in Genetics of Common and Rare Diseases

Abrar Bawatneh
Alaa Darwish
Hasan Eideh
Hisham M. Darwish

Frontiers in Genetics

doi 10.3389/fgene.2023.1292073

6,896 views
2 citations

Case Report

Published on 11 Jan 2024

Case Report: From epilepsy and uterus didelphys to Turner syndrome-associated dysgerminoma

in Genetics of Common and Rare Diseases

Jinghua Li
Haipeng Zhu
Xuelian Ma
Jia Li
Jing Xue
Limin Feng

Frontiers in Genetics

doi 10.3389/fgene.2023.1286515

2,302 views
1 citation