Frontiers in Pediatrics | Genetics of Common and Rare Diseases

Original Research

Published on 04 Jul 2024

Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey

in Genetics of Common and Rare Diseases

Bengisu Guner Yilmaz
Ozlem Akgun-Dogan
Ozkan Ozdemir
Bayram Yuksel
Ozden Hatirnaz Ng
Kaya Bilguvar
Beril Ay
Gulsah Sebnem Ozkose
Eylul Aydin
Ayca Yigit

Frontiers in Pediatrics

doi 10.3389/fped.2024.1412880

3,601 views
1 citation

Case Report

Published on 04 Jul 2024

Identification of a novel METTL23 gene variant in a patient with an intellectual development disorder: a literature review and case report

in Genetics of Common and Rare Diseases

Jian Zha
Yong Chen
Fangfang Cao
Yanghong Yu
Ruiyan Wang
Jianmin Zhong

Frontiers in Pediatrics

doi 10.3389/fped.2024.1328063

2,173 views

Original Research

Published on 26 Jun 2024

Identification of diagnostic biomarkers and potential therapeutic targets for biliary atresia via WGCNA and machine learning methods

in Genetics of Common and Rare Diseases

Lei Xu
Ting Xiao
Biao Zou
Zhihui Rong
Wei Yao

Frontiers in Pediatrics

doi 10.3389/fped.2024.1339925

2,048 views

Case Report

Published on 11 Jun 2024

Bardet-Biedl syndrome in a 19-year-old male: the first case report from Palestine

in Genetics of Common and Rare Diseases

Hamza B. Karmi
Yahya Abu Jwaid
Mohammad Hakam Shehadeh
Dareen Njoom
Aya Awwad
Hasan Eideh

Frontiers in Pediatrics

doi 10.3389/fped.2024.1420684

2,663 views

Original Research

Published on 31 May 2024

A mild phenotype associated with KCNQ1 p.V205M mediated long QT syndrome in First Nations children of Northern British Columbia: effect of additional variants and considerations for management

in Genetics of Common and Rare Diseases

Simona Bene Watts
Barbara Gauthier
Anders C. Erickson
Julie Morrison
Mavis Sebastian
Lawrence Gillman
Sarah McIntosh
Connie Ens
Elizabeth Sherwin
Rod McCormick

Frontiers in Pediatrics

doi 10.3389/fped.2024.1394105

1,786 views
2 citations

Case Report

Published on 30 May 2024

Case Report: New presentation of CLIFAHDD syndrome with a novel variant in the NALCN gene and a literature review

in Genetics of Common and Rare Diseases

Yi Chen
Xiaotong Xia
Yiwen Zhang
Li Gao
Chenyiyi He
Jianguo Cao

Frontiers in Pediatrics

doi 10.3389/fped.2024.1370790

3,370 views
2 citations

Case Report

Published on 30 May 2024

A novel mutation in GAS8 gene associated with chronic rhinosinusitis with nasal polyposis in a case of primary ciliary dyskinesia: a case report

in Genetics of Common and Rare Diseases

Maria Cristina Artesani
Sara Santarsiero
Emanuela Sitzia
Francesca Romana Lepri
Monia Magliozzi
Fabio Majo
Nicola Ullmann
Alessandra Stracuzzi
Antonio Novelli
Giovanni Cristalli

Frontiers in Pediatrics

doi 10.3389/fped.2024.1345265

1,797 views

Original Research

Published on 27 May 2024

Exploring the clinical complexity of cardio-facio-cutaneous syndrome: insights from a pediatric case series

in Genetics of Common and Rare Diseases

Yuexu Ou
Jie Cao
Yuanhui Duan
FengHua Chen
Jiwei Zhou
Jieling Li
Xiaoming Gan

Frontiers in Pediatrics

doi 10.3389/fped.2024.1355277

1,816 views

Original Research

Published on 09 May 2024

Genetic background of primary and familial HLH in Qatar: registry data and population study

in Genetics of Common and Rare Diseases

Elkhansa Elgaali
Massimo Mezzavilla
Ikhlak Ahmed
Mohammed Elanbari
Aesha Ali
Ghada Abdelaziz
Khalid A. Fakhro
Ayman Saleh
Tawfeg Ben-Omran
Naima Almulla

Frontiers in Pediatrics

doi 10.3389/fped.2024.1326489

1,929 views
1 citation

Case Report

Published on 09 May 2024

Case Report: Identification of a novel PRR12 variant in a Chinese boy with developmental delay and short stature

in Genetics of Common and Rare Diseases

Zhengxia Liu
Shuxia Ding
Guangwei Xu
Chunyan Fang

Frontiers in Pediatrics

doi 10.3389/fped.2024.1367131

2,445 views

Case Report

Published on 01 May 2024

Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report

in Genetics of Common and Rare Diseases

Federico Baltar
Camila Simoes
Francisco Garagorry
Martín Graña
Soledad Rodríguez
María Haydée Aunchayna
Alejandra Tapié
Alfredo Cerisola
Gabriel González
Hugo Naya

Frontiers in Pediatrics

doi 10.3389/fped.2024.1379254

1,931 views

Case Report

Published on 30 Apr 2024

Case Report: A rare treatable metabolic syndrome (Brown-Vialetto-Van Laere syndrome) masquerading as chronic inflammatory demyelinating polyneuropathy from Saudi Arabia

in Genetics of Common and Rare Diseases

Amal Y. Kentab
Yara Alsalloum
Mai Labani
Abrar Hudairi
Muddathir H. Hamad
Dima Z. Jamjoom
Ali H. Alwadei
Reem M. Alhammad
Fahad A. Bashiri

Frontiers in Pediatrics

doi 10.3389/fped.2024.1377515

2,639 views

Case Report

Published on 25 Apr 2024

Case Report: A novel RRM2B variant in a Chinese infant with mitochondrial DNA depletion syndrome and collective analyses of RRM2B variants for disease etiology

in Genetics of Common and Rare Diseases

Yanjun Wang
Ling Hang
Weihua Shou
Cuifen Li
Fangling Dong
Xingxing Feng
Ruohong Jin
Bin Li
Shufang Xiao

Frontiers in Pediatrics

doi 10.3389/fped.2024.1363728

1,762 views
1 citation

Original Research

Published on 22 Apr 2024

Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing

in Genetics of Common and Rare Diseases

Danya Salah Baz
Dareen Baz
Fawzah Alrwuili
Abdullah Aldowaish
Hanan E. Shamseldin
Ayman Elhomoudi
Fowzan S. Alkuraya

Frontiers in Pediatrics

doi 10.3389/fped.2024.1392444

1,693 views
1 citation

Case Report

Published on 03 Apr 2024

Case Report: A developmental and epileptic encephalopathy 45 due to de novo variant of GABRB1

in Genetics of Common and Rare Diseases

Lu Wang
Haiquan Xu
Jianbo Shu
Dandan Yan
Dong Li
Chunquan Cai

Frontiers in Pediatrics

doi 10.3389/fped.2024.1346987

1,622 views

Case Report

Published on 03 Apr 2024

Case Report: Novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome

in Genetics of Common and Rare Diseases

Takuya Hiraide
Taiju Hayashi
Yusuke Ito
Rei Urushibata
Hiroshi Uchida
Ryoichi Kitagata
Hidetoshi Ishigaki
Tsutomu Ogata
Hirotomo Saitsu
Tokiko Fukuda

Frontiers in Pediatrics

doi 10.3389/fped.2024.1360867

2,200 views
2 citations