Frontiers in Genetics

Original Research

Published on 19 Jan 2022

Clinical Characteristics and Genetic Analysis of a Family With Birt-Hogg-Dubé Syndrome and Congenital Contractural Arachnodactyly

Jiayong Qiu
Yao Lou
Yingwei Zhu
Min Wang
Huifang Peng
Yingying Hao
Hongwei Jiang
Yimin Mao

Frontiers in Genetics

doi 10.3389/fgene.2021.768342

3,883 views
3 citations

Original Research

Published on 19 Jan 2022

Barriers to Therapeutic Use of Hydroxyurea for Sickle Cell Disease in Nigeria: A Cross-Sectional Survey

Emmanuel Chide Okocha
Joyce Gyamfi
Nessa Ryan
Oluwatoyin Babalola
Eno-Abasi Etuk
Reuben Chianumba
Maxwell Nwegbu
Hezekiah Isa
Anazoeze Jude Madu
Samuel Adegoke

Frontiers in Genetics

doi 10.3389/fgene.2021.765958

13,955 views
47 citations

Original Research

Published on 19 Jan 2022

The NGS Magic Pudding: A Nanopore-Led Long-Read Genome Assembly for the Commercial Australian Freshwater Crayfish, Cherax destructor

Christopher M. Austin
Laurence J. Croft
Frederic Grandjean
Han Ming Gan

Frontiers in Genetics

doi 10.3389/fgene.2021.695763

3,307 views
2 citations

Original Research

Published on 19 Jan 2022

Dynamic Expression and Gene Regulation of MicroRNAs During Bighead Carp (Hypophthalmichthys nobilis) Early Development

Jianjun Fu
Wenbin Zhu
Lanmei Wang
Mingkun Luo
Bingjie Jiang
Zaijie Dong

Frontiers in Genetics

doi 10.3389/fgene.2021.821403

2,854 views
3 citations

Original Research

Published on 19 Jan 2022

A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4)

G. Perez-Siles
M. Ellis
A. Ashe
B. Grosz
S. Vucic
M. C. Kiernan
K. A. Morris
S. W. Reddel
M. L. Kennerson

Frontiers in Genetics

doi 10.3389/fgene.2021.801253

7,051 views
4 citations

Original Research

Published on 19 Jan 2022

Analysis of Placental Arteriovenous Formation Reveals New Insights Into Embryos With Congenital Heart Defects

Jacinta I. Kalisch-Smith
Emily C. Morris
Mary A. A. Strevens
Andia N. Redpath
Kostantinos Klaourakis
Dorota Szumska
Jennifer E. Outhwaite
Xin Sun
Joaquim Miguel Vieira
Nicola Smart

Frontiers in Genetics

doi 10.3389/fgene.2021.806136

5,608 views
2 citations

Data Report

Published on 19 Jan 2022

Chromosome-Level Assembly of the Chinese Hooksnout Carp (Opsariichthys bidens) Genome Using PacBio Sequencing and Hi-C Technology

Xiaojun Xu
Wenzhi Guan
Baolong Niu
Dandan Guo
Qing-Ping Xie
Wei Zhan
Shaokui Yi
Bao Lou

Frontiers in Genetics

doi 10.3389/fgene.2021.788547

4,148 views
16 citations

Review

Published on 19 Jan 2022

Emerging Roles of Circular RNAs in Vascular Smooth Muscle Cell Dysfunction

Zuo Pu
Jingbo Lu
Xiaohan Yang

Frontiers in Genetics

doi 10.3389/fgene.2021.749296

4,658 views
16 citations

Original Research

Published on 19 Jan 2022

Computational System Level Approaches for Discerning Reciprocal Regulation of IL10 and IL12 in Leishmaniasis

Shweta Khandibharad
Shailza Singh

Frontiers in Genetics

doi 10.3389/fgene.2021.784664

3,493 views
20 citations

Methods

Published on 18 Jan 2022

MultiCapsNet: A General Framework for Data Integration and Interpretable Classification

Lifei Wang
Xuexia Miao
Rui Nie
Zhang Zhang
Jiang Zhang
Jun Cai

Frontiers in Genetics

doi 10.3389/fgene.2021.767602

4,318 views
6 citations

Original Research

Published on 18 Jan 2022

A Novel Heterozygous Pathogenic Variation in CYCS Gene Cause Autosomal Dominant Non-Syndromic Thrombocytopenia 4 in a Large Chinese Family

Fengyu Che
Jiangang Zhao
Yujuan Zhao
Zhi Wang
Liyu Zhang
Ying Yang

Frontiers in Genetics

doi 10.3389/fgene.2021.783455

4,265 views
11 citations

Correction

Published on 18 Jan 2022

Corrigendum: RNA m6A Methylation Regulators Multi-Omics Analysis in Prostate Cancer

Hao Su
Yutao Wang
Hongjun Li

Frontiers in Genetics

doi 10.3389/fgene.2021.845413

2,235 views
2 citations

Original Research

Published on 18 Jan 2022

Computational Prediction of the Pathogenic Status of Cancer-Specific Somatic Variants

Nikta Feizi
Qian Liu
Leigh Murphy
Pingzhao Hu

Frontiers in Genetics

doi 10.3389/fgene.2021.805656

4,870 views
8 citations

Case Report

Published on 18 Jan 2022

Case Report and Literature Review: Diagnosis, Tailored Genetic Counseling and Cancer Prevention for a Locally Advanced dMMR/MSI-H/TMB-H Lung Cancer Patient With Concurrent Lynch Syndrome Mediated by a Rare PMS2 Splicing Variant (c.1144+1G>A)

Quanli Han
Si Liu
Zhi Cui
Qi Wang
Tonghui Ma
Liwen Jiang
Xiaomo Li
Guanghai Dai

Frontiers in Genetics

doi 10.3389/fgene.2021.799807

6,496 views
9 citations

Review

Published on 18 Jan 2022

New Molecular and Organelle Alterations Linked to Down Syndrome Heart Disease

Leslye Venegas-Zamora
Francisco Bravo-Acuña
Francisco Sigcho
Wileidy Gomez
José Bustamante-Salazar
Zully Pedrozo
Valentina Parra

Frontiers in Genetics

doi 10.3389/fgene.2021.792231

9,026 views
17 citations

Case Report

Published on 18 Jan 2022

Fetal Congenital Heart Disease Caused by Compound Heterozygous Mutations in the DNAH9 Gene: A Case Report

Tao Zhang
Hua Yuan
Hongdan Zhu
Yuyi Ying
Jinlong Ding
Haigang Ding
Xiaoliang Shi
Yao He
Haitao Pan
Yongxing Zhong

Frontiers in Genetics

doi 10.3389/fgene.2021.771756

4,613 views
1 citation

Original Research

Published on 18 Jan 2022

Identifying Balanced Chromosomal Translocations in Human Embryos by Oxford Nanopore Sequencing and Breakpoints Region Analysis

Zhenle Pei
Ke Deng
Caixai Lei
Danfeng Du
Guoliang Yu
Xiaoxi Sun
Congjian Xu
Shuo Zhang

Frontiers in Genetics

doi 10.3389/fgene.2021.810900

15,589 views
26 citations

Review

Published on 18 Jan 2022

Emerging Role and Mechanism of circRNAs in Pediatric Malignant Solid Tumors

Qiyang Shen
Xingyu Liu
Wei Li
Xu Zhao
Tao Li
Kai Zhou
Jianfeng Zhou

Frontiers in Genetics

doi 10.3389/fgene.2021.820936

3,192 views
2 citations

Original Research

Published on 17 Jan 2022

Identification of Potential Prognostic Biomarkers Associated With Macrophage M2 Infiltration in Gastric Cancer

Baohong Liu
Xueting Ma
Wei Ha

Frontiers in Genetics

doi 10.3389/fgene.2021.827444

4,816 views
9 citations

Original Research

Published on 17 Jan 2022

Analysis of Autozygosity Using Whole-Genome Sequence Data of Full-Sib Families in Pikeperch (Sander lucioperca)

Lidia De los Ríos-Pérez
Tom Druet
Tom Goldammer
Dörte Wittenburg

Frontiers in Genetics

doi 10.3389/fgene.2021.786934

3,043 views
4 citations

Original Research

Published on 17 Jan 2022

Genome-Wide Investigation of the Zinc Finger-Homeodomain Family Genes Reveals Potential Roles in Apple Fruit Ripening

Xian-bo Zheng
Yao Wu
Hao Wang
Shang-wei Song
Tuan-hui Bai
Jian Jiao
Chun-hui Song
Hong-guang Pang
Miao-miao Wang

Frontiers in Genetics

doi 10.3389/fgene.2021.783482

3,682 views
11 citations

Original Research

Published on 17 Jan 2022

A Computational Framework to Identify Biomarkers for Glioma Recurrence and Potential Drugs Targeting Them

Shuzhi Ma
Zhen Guo
Bo Wang
Min Yang
Xuelian Yuan
Binbin Ji
Yan Wu
Size Chen

Frontiers in Genetics

doi 10.3389/fgene.2021.832627

5,179 views
4 citations

Original Research

Published on 17 Jan 2022

A Family Segregating Lethal Primary Coenzyme Q10 Deficiency Due to Two Novel COQ6 Variants

Na Wang
Youmin Zheng
Lingzi Zhang
Xiong Tian
Yicheng Fang
Ming Qi
Juping Du
Shuaishuai Chen
Shiyong Chen
Jun Li

Frontiers in Genetics

doi 10.3389/fgene.2021.811833

3,490 views
10 citations

Original Research

Published on 17 Jan 2022

Prediction of Two Molecular Subtypes of Gastric Cancer Based on Immune Signature

Dan Wu
Mengyao Feng
Hongru Shen
Xilin Shen
Jiani Hu
Jilei Liu
Yichen Yang
Yang Li
Meng Yang
Wei Wang

Frontiers in Genetics

doi 10.3389/fgene.2021.793494

5,318 views
11 citations

2,901 Publications

volumes

Clinical Characteristics and Genetic Analysis of a Family With Birt-Hogg-Dubé Syndrome and Congenital Contractural Arachnodactyly

Barriers to Therapeutic Use of Hydroxyurea for Sickle Cell Disease in Nigeria: A Cross-Sectional Survey

The NGS Magic Pudding: A Nanopore-Led Long-Read Genome Assembly for the Commercial Australian Freshwater Crayfish, Cherax destructor

Dynamic Expression and Gene Regulation of MicroRNAs During Bighead Carp (Hypophthalmichthys nobilis) Early Development

A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4)

Analysis of Placental Arteriovenous Formation Reveals New Insights Into Embryos With Congenital Heart Defects

Chromosome-Level Assembly of the Chinese Hooksnout Carp (Opsariichthys bidens) Genome Using PacBio Sequencing and Hi-C Technology

Emerging Roles of Circular RNAs in Vascular Smooth Muscle Cell Dysfunction

Computational System Level Approaches for Discerning Reciprocal Regulation of IL10 and IL12 in Leishmaniasis

MultiCapsNet: A General Framework for Data Integration and Interpretable Classification

A Novel Heterozygous Pathogenic Variation in CYCS Gene Cause Autosomal Dominant Non-Syndromic Thrombocytopenia 4 in a Large Chinese Family

Corrigendum: RNA m6A Methylation Regulators Multi-Omics Analysis in Prostate Cancer

Computational Prediction of the Pathogenic Status of Cancer-Specific Somatic Variants

Case Report and Literature Review: Diagnosis, Tailored Genetic Counseling and Cancer Prevention for a Locally Advanced dMMR/MSI-H/TMB-H Lung Cancer Patient With Concurrent Lynch Syndrome Mediated by a Rare PMS2 Splicing Variant (c.1144+1G>A)

New Molecular and Organelle Alterations Linked to Down Syndrome Heart Disease

Fetal Congenital Heart Disease Caused by Compound Heterozygous Mutations in the DNAH9 Gene: A Case Report

Identifying Balanced Chromosomal Translocations in Human Embryos by Oxford Nanopore Sequencing and Breakpoints Region Analysis

Emerging Role and Mechanism of circRNAs in Pediatric Malignant Solid Tumors

Identification of Potential Prognostic Biomarkers Associated With Macrophage M2 Infiltration in Gastric Cancer

Analysis of Autozygosity Using Whole-Genome Sequence Data of Full-Sib Families in Pikeperch (Sander lucioperca)

Genome-Wide Investigation of the Zinc Finger-Homeodomain Family Genes Reveals Potential Roles in Apple Fruit Ripening

A Computational Framework to Identify Biomarkers for Glioma Recurrence and Potential Drugs Targeting Them

A Family Segregating Lethal Primary Coenzyme Q10 Deficiency Due to Two Novel COQ6 Variants

Prediction of Two Molecular Subtypes of Gastric Cancer Based on Immune Signature