Original Research

Published on 02 Mar 2021

Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases

in Human and Medical Genomics

Xinye Qian
Jun Wang
Meng Wang
Austin D. Igelman
Kaylie D. Jones
Yumei Li
Keqing Wang
Kerry E. Goetz
David G. Birch
Paul Yang

Frontiers in Genetics

doi 10.3389/fgene.2021.647400

10,924 views
38 citations

Original Research

Published on 26 Feb 2021

A Rapid NGS-Based Preimplantation Genetic Testing for Chromosomal Abnormalities in Day-3 Blastomere Biopsy Allows Embryo Transfer Within the Same Treatment Cycle

in Human and Medical Genomics

Yinghui Ye
Jieliang Ma
Long Cui
Sijia Lu
Fan Jin

Frontiers in Genetics

doi 10.3389/fgene.2021.636370

6,938 views
5 citations

Original Research

Published on 24 Feb 2021

Association of Sleep Duration With Atrial Fibrillation and Heart Failure: A Mendelian Randomization Analysis

in Human and Medical Genomics

Jianqiang Zhao
Fangkun Yang
Chengui Zhuo
Qiyue Wang
Zihao Qu
Qiqi Wang
Liangrong Zheng

Frontiers in Genetics

doi 10.3389/fgene.2021.583658

6,210 views
19 citations

Original Research

Published on 22 Feb 2021

Evaluation of a Custom SNP Panel for Identifying and Rectifying of Misjudged Paternity in Deficiency Cases

in Human and Medical Genomics

Liao Chang
Huiyun Yu
Xinyao Miao
Siqi Wen
Bao Zhang
Shengbin Li

Frontiers in Genetics

doi 10.3389/fgene.2021.602429

2,929 views
5 citations

Original Research

Published on 18 Feb 2021

New Insights Into Mitochondrial DNA Reconstruction and Variant Detection in Ancient Samples

in Human and Medical Genomics

Maria Angela Diroma
Alessandra Modi
Martina Lari
Luca Sineo
David Caramelli
Stefania Vai

Frontiers in Genetics

doi 10.3389/fgene.2021.619950

12,942 views
7 citations

Original Research

Published on 18 Feb 2021

No Clinically Relevant Effect of Heart Rate Increase and Heart Rate Recovery During Exercise on Cardiovascular Disease: A Mendelian Randomization Analysis

in Human and Medical Genomics

Josephine Mensah-Kane
Amand F. Schmidt
Aroon D. Hingorani
Chris Finan
Yutang Chen
Stefan van Duijvenboden
Michele Orini
Pier D. Lambiase
Andrew Tinker
Eirini Marouli

Frontiers in Genetics

doi 10.3389/fgene.2021.569323

6,635 views
23 citations

Original Research

Published on 16 Feb 2021

Meiotic Heterogeneity of Trivalent Structure and Interchromosomal Effect in Blastocysts With Robertsonian Translocations

in Human and Medical Genomics

Shuo Zhang
Caixia Lei
Junping Wu
Jing Zhou
Min Xiao
Saijuan Zhu
Yanping Xi
Jing Fu
Yijuan Sun
Congjian Xu

Frontiers in Genetics

doi 10.3389/fgene.2021.609563

3,640 views
8 citations

Original Research

Published on 11 Feb 2021

Gene Size Matters: An Analysis of Gene Length in the Human Genome

in Human and Medical Genomics

Inês Lopes
Gulam Altab
Priyanka Raina
João Pedro de Magalhães

Frontiers in Genetics

doi 10.3389/fgene.2021.559998

59,720 views
105 citations

Original Research

Published on 10 Feb 2021

SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa

in Human and Medical Genomics

Chiara Chiereghin
Michela Robusto
Lucia Mauri
Paola Primignani
Pierangela Castorina
Umberto Ambrosetti
Stefano Duga
Rosanna Asselta
Giulia Soldà

Frontiers in Genetics

doi 10.3389/fgene.2021.606630

2,913 views
8 citations

Original Research

Published on 28 Jan 2021

A Review of Genetic and Physiological Disease Mechanisms Associated With Cav1 Channels: Implications for Incomplete Congenital Stationary Night Blindness Treatment

in Human and Medical Genomics

Tal T. Sadeh
Graeme C. Black
Forbes Manson

Frontiers in Genetics

doi 10.3389/fgene.2021.637780

3,479 views
2 citations

Review

Published on 28 Jan 2021

The Role of the U5 snRNP in Genetic Disorders and Cancer

in Human and Medical Genomics

Katherine A. Wood
Megan A. Eadsforth
William G. Newman
Raymond T. O’Keefe

Frontiers in Genetics

doi 10.3389/fgene.2021.636620

9,917 views
30 citations

Original Research

Published on 22 Jan 2021

Candidate Genes for Age at Menarche Are Associated With Uterine Leiomyoma

in Human and Medical Genomics

Irina Ponomarenko
Evgeny Reshetnikov
Alexey Polonikov
Irina Verzilina
Inna Sorokina
Anna Yermachenko
Volodymyr Dvornyk
Mikhail Churnosov

Frontiers in Genetics

doi 10.3389/fgene.2020.512940

4,151 views
49 citations

Original Research

Published on 18 Jan 2021

SNP-Density Crossover Maps of Polymorphic Transposable Elements and HLA Genes Within MHC Class I Haplotype Blocks and Junction

in Human and Medical Genomics

Jerzy K. Kulski
Shingo Suzuki
Takashi Shiina

Frontiers in Genetics

doi 10.3389/fgene.2020.594318

6,022 views
14 citations

Original Research

Published on 07 Jan 2021

Pan-Cancer Analysis of Head-to-Head Gene Pairs in Terms of Transcriptional Activity, Co-expression and Regulation

in Human and Medical Genomics

Yunqin Chen
Hong Li
Yuan-Yuan Li
Yixue Li

Frontiers in Genetics

doi 10.3389/fgene.2020.560997

4,147 views
9 citations

Review

Published on 23 Dec 2020

DNA-PKcs: A Multi-Faceted Player in DNA Damage Response

in Human and Medical Genomics

Xiaoqiao Yue
Chenjun Bai
Dafei Xie
Teng Ma
Ping-Kun Zhou

Frontiers in Genetics

doi 10.3389/fgene.2020.607428

30,506 views
108 citations

Original Research

Published on 08 Dec 2020

The Usage of Human IGHJ Genes Follows a Particular Non-random Selection: The Recombination Signal Sequence May Affect the Usage of Human IGHJ Genes

in Human and Medical Genomics

Bin Shi
Xiaoheng Dong
Qingqing Ma
Suhong Sun
Long Ma
Jiang Yu
Xiaomei Wang
Juan Pan
Xiaoyan He
Danhua Su

Frontiers in Genetics

doi 10.3389/fgene.2020.524413

4,486 views
19 citations

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Articles

Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases

A Rapid NGS-Based Preimplantation Genetic Testing for Chromosomal Abnormalities in Day-3 Blastomere Biopsy Allows Embryo Transfer Within the Same Treatment Cycle

Association of Sleep Duration With Atrial Fibrillation and Heart Failure: A Mendelian Randomization Analysis

Evaluation of a Custom SNP Panel for Identifying and Rectifying of Misjudged Paternity in Deficiency Cases

New Insights Into Mitochondrial DNA Reconstruction and Variant Detection in Ancient Samples

No Clinically Relevant Effect of Heart Rate Increase and Heart Rate Recovery During Exercise on Cardiovascular Disease: A Mendelian Randomization Analysis

Meiotic Heterogeneity of Trivalent Structure and Interchromosomal Effect in Blastocysts With Robertsonian Translocations

Gene Size Matters: An Analysis of Gene Length in the Human Genome

SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa

A Review of Genetic and Physiological Disease Mechanisms Associated With Cav1 Channels: Implications for Incomplete Congenital Stationary Night Blindness Treatment

The Role of the U5 snRNP in Genetic Disorders and Cancer

Candidate Genes for Age at Menarche Are Associated With Uterine Leiomyoma

SNP-Density Crossover Maps of Polymorphic Transposable Elements and HLA Genes Within MHC Class I Haplotype Blocks and Junction

Pan-Cancer Analysis of Head-to-Head Gene Pairs in Terms of Transcriptional Activity, Co-expression and Regulation

DNA-PKcs: A Multi-Faceted Player in DNA Damage Response

The Usage of Human IGHJ Genes Follows a Particular Non-random Selection: The Recombination Signal Sequence May Affect the Usage of Human IGHJ Genes