Case Report

Published on 16 Apr 2021

Case Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy

in Genetics of Common and Rare Diseases

Katarína Kušíková
René Günther Feichtinger
Bernhard Csillag
Ognian Kostadinov Kalev
Serge Weis
Hans-Christoph Duba
Johannes Adalbert Mayr
Denisa Weis

Frontiers in Pediatrics

doi 10.3389/fped.2021.660076

4,874 views
13 citations

Original Research

Published on 16 Apr 2021

Clinical and Genetic Characterization of Craniosynostosis in Saudi Arabia

in Genetics of Common and Rare Diseases

Malak Alghamdi
Taghreed R. Alhumsi
Ikhlass Altweijri
Waleed H. Alkhamis
Omar Barasain
Kelly J. Cardona-Londoño
Reshmi Ramakrishnan
Francisco J. Guzmán-Vega
Stefan T. Arold
Ghaida Ali

Frontiers in Pediatrics

doi 10.3389/fped.2021.582816

6,675 views
8 citations

Case Report

Published on 14 Apr 2021

Case Report: White Colored Stool: An Early Sign of Cystic Fibrosis in Infants

in Genetics of Common and Rare Diseases

Jing Guo
Rong He
Zhi-qin Mao

Frontiers in Pediatrics

doi 10.3389/fped.2021.656584

14,990 views
1 citation

Case Report

Published on 30 Mar 2021

Case Report: Novel Likely Pathogenic ACTN2 Variant Causing Heterogeneous Phenotype in a Korean Family With Left Ventricular Non-compaction

in Genetics of Common and Rare Diseases

Joonhong Park
Yong Gon Cho
Ha Wook Park
Jung Sun Cho

Frontiers in Pediatrics

doi 10.3389/fped.2021.609389

3,921 views
9 citations

Review

Published on 22 Mar 2021

Genetic and Non-genetic Workup for Pediatric Congenital Hearing Loss

in Genetics of Common and Rare Diseases

Ryan Belcher
Frank Virgin
Jessica Duis
Christopher Wootten

Frontiers in Pediatrics

doi 10.3389/fped.2021.536730

10,753 views
19 citations

Case Report

Published on 19 Mar 2021

Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome

in Genetics of Common and Rare Diseases

Pengjiang Kang
Weihua Zhang
Jinquan Wen
Jiming Zhang
Fei Li
Wuxia Sun

Frontiers in Pediatrics

doi 10.3389/fped.2021.630329

3,450 views
5 citations

Systematic Review

Published on 10 Mar 2021

Association Between MTHFR C677T Polymorphism and Susceptibility to Autism Spectrum Disorders: A Meta-Analysis in Chinese Han Population

in Genetics of Common and Rare Diseases

Chen-Xi Li
Yi-Guang Liu
Yue-Ping Che
Jian-Lin Ou
Wen-Cong Ruan
Yong-Lin Yu
Hai-Feng Li

Frontiers in Pediatrics

doi 10.3389/fped.2021.598805

6,182 views
8 citations

Brief Research Report

Published on 04 Mar 2021

Novel Gross Deletion Mutations in NTRK1 Gene Associated With Congenital Insensitivity to Pain With Anhidrosis

in Genetics of Common and Rare Diseases

Lulu Li
Chao Jia
Yue Tang
Yuanyuan Kong
Yaofang Xia
Li Ma

Frontiers in Pediatrics

doi 10.3389/fped.2021.638190

4,686 views
8 citations

Case Report

Published on 26 Feb 2021

Case Report: Co-occurrence of Duchenne Muscular Dystrophy and Frontometaphyseal Dysplasia 1

in Genetics of Common and Rare Diseases

Jaewon Kim
Dong-Woo Lee
Ja-Hyun Jang
Myungshin Kim
Jisook Yim
Dae-Hyun Jang

Frontiers in Pediatrics

doi 10.3389/fped.2021.628190

3,496 views
5 citations

Case Report

Published on 25 Feb 2021

Case Report: Clinical Description of a Patient Carrying a 12.48 Mb Microdeletion Involving the 10p13–15.3 Region

in Genetics of Common and Rare Diseases

Yu-qing Pan
Jian-hua Fu

Frontiers in Pediatrics

doi 10.3389/fped.2021.603666

4,333 views
2 citations

Review

Published on 19 Feb 2021

Genetic Testing in Neurodevelopmental Disorders

in Genetics of Common and Rare Diseases

Juliann M. Savatt
Scott M. Myers

Frontiers in Pediatrics

doi 10.3389/fped.2021.526779

62,393 views
121 citations

Mini Review

Published on 19 Feb 2021

Liver Transplantation for Glycogen Storage Disease Type IV

in Genetics of Common and Rare Diseases

Min Liu
Li-Ying Sun

Frontiers in Pediatrics

doi 10.3389/fped.2021.633822

5,341 views
14 citations

Original Research

Published on 11 Feb 2021

Whole Exome Sequencing Identifies Three Novel Mutations in the ASPM Gene From Saudi Families Leading to Primary Microcephaly

in Genetics of Common and Rare Diseases

Muhammad Imran Naseer
Angham Abdulrahman Abdulkareem
Osama Yousef Muthaffar
Sameera Sogaty
Hiba Alkhatabi
Sarah Almaghrabi
Adeel G. Chaudhary

Frontiers in Pediatrics

doi 10.3389/fped.2020.627122

4,392 views
19 citations

Case Report

Published on 10 Feb 2021

Case Report: A Case Report and Literature Review of 3p Deletion Syndrome

in Genetics of Common and Rare Diseases

Junxian Fu
Ting Wang
Zhuo Fu
Tianxia Li
Xiaomeng Zhang
Jingjing Zhao
Guanglu Yang

Frontiers in Pediatrics

doi 10.3389/fped.2021.618059

40,211 views
10 citations

Original Research

Published on 21 Jan 2021

An Easily Overlooked Contamination of Syringes in Newborn Screening by Tandem Mass Spectrometry

in Genetics of Common and Rare Diseases

Yanyun Wang
Yun Sun
Tao Jiang

Frontiers in Pediatrics

doi 10.3389/fped.2020.596321

2,077 views

Brief Research Report

Published on 20 Jan 2021

Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance

in Genetics of Common and Rare Diseases

Gang Peng
Yishuo Tang
Tina M. Cowan
Hongyu Zhao
Curt Scharfe

Frontiers in Pediatrics

doi 10.3389/fped.2020.623184

7,135 views
15 citations

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Articles

Case Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy

Clinical and Genetic Characterization of Craniosynostosis in Saudi Arabia

Case Report: White Colored Stool: An Early Sign of Cystic Fibrosis in Infants

Case Report: Novel Likely Pathogenic ACTN2 Variant Causing Heterogeneous Phenotype in a Korean Family With Left Ventricular Non-compaction

Genetic and Non-genetic Workup for Pediatric Congenital Hearing Loss

Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome

Association Between MTHFR C677T Polymorphism and Susceptibility to Autism Spectrum Disorders: A Meta-Analysis in Chinese Han Population

Novel Gross Deletion Mutations in NTRK1 Gene Associated With Congenital Insensitivity to Pain With Anhidrosis

Case Report: Co-occurrence of Duchenne Muscular Dystrophy and Frontometaphyseal Dysplasia 1

Case Report: Clinical Description of a Patient Carrying a 12.48 Mb Microdeletion Involving the 10p13–15.3 Region

Genetic Testing in Neurodevelopmental Disorders

Liver Transplantation for Glycogen Storage Disease Type IV

Whole Exome Sequencing Identifies Three Novel Mutations in the ASPM Gene From Saudi Families Leading to Primary Microcephaly

Case Report: A Case Report and Literature Review of 3p Deletion Syndrome

An Easily Overlooked Contamination of Syringes in Newborn Screening by Tandem Mass Spectrometry

Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance