Original Research

Published on 20 Apr 2022

Novel Heterozygous Missense Variant in GRIA4 Gene Associated With Neurodevelopmental Disorder With or Without Seizures and Gait Abnormalities

in Human and Medical Genomics

Hua Wang
Jiatong Liu
Fuwei Li
Ziteng Teng
Mingyu Liu
Weiyue Gu

Frontiers in Genetics

doi 10.3389/fgene.2022.859140

2,880 views
6 citations

Perspective

Published on 14 Apr 2022

Individualized Medicine in Africa: Bringing the Practice Into the Realms of Population Heterogeneity

in Human and Medical Genomics

Ayman A. Hussein
Reem Hamad
Melanie J. Newport
Muntaser E. Ibrahim

Frontiers in Genetics

doi 10.3389/fgene.2022.853969

2,573 views
1 citation

Original Research

Published on 14 Apr 2022

Interest in Cancer Predisposition Testing and Carrier Screening Offered as Part of Routine Healthcare Among an Ethnically Diverse Sample of Young Women

in Human and Medical Genomics

Kimberly A. Kaphingst
Jemar R. Bather
Brianne M. Daly
Daniel Chavez-Yenter
Alexis Vega
Wendy K. Kohlmann

Frontiers in Genetics

doi 10.3389/fgene.2022.866062

3,022 views
8 citations

Original Research

Published on 14 Apr 2022

Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders

in Human and Medical Genomics

Ye Cao
Ho Ming Luk
Yanyan Zhang
Matthew Hoi Kin Chau
Shuwen Xue
Shirley S. W. Cheng
Albert Martin Li
Josephine S. C. Chong
Tak Yeung Leung
Zirui Dong

Frontiers in Genetics

doi 10.3389/fgene.2022.803088

3,578 views
1 citation

Perspective

Published on 14 Apr 2022

Hepatic Models in Precision Medicine: An African Perspective on Pharmacovigilance

in Human and Medical Genomics

Tracey Hurrell
Jerolen Naidoo
Janine Scholefield

Frontiers in Genetics

doi 10.3389/fgene.2022.864725

2,947 views
3 citations

Original Research

Published on 13 Apr 2022

Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases

in Human and Medical Genomics

Dinu Antony
Elif Gulec Yilmaz
Alper Gezdirici
Lennart Slagter
Zeineb Bakey
Helen Bornaun
Ibrahim Cansaran Tanidir
Tran Van Dinh
Han G. Brunner
Peter Walentek

Frontiers in Genetics

doi 10.3389/fgene.2022.861236

5,348 views
3 citations

Original Research

Published on 12 Apr 2022

Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes

in Human and Medical Genomics

Talita Aguiar
Anne Teixeira
Marília O. Scliar
Juliana Sobral de Barros
Renan B. Lemes
Silvia Souza
Giovanna Tolezano
Fernanda Santos
Israel Tojal
Monica Cypriano

Frontiers in Genetics

doi 10.3389/fgene.2022.858396

4,707 views
6 citations

Original Research

Published on 12 Apr 2022

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

in Human and Medical Genomics

Julián Nevado
Sixto García-Miñaúr
María Palomares-Bralo
Elena Vallespín
Encarna Guillén-Navarro
Jordi Rosell
Cristina Bel-Fenellós
María Ángeles Mori
Montserrat Milá
Miguel del Campo

Frontiers in Genetics

doi 10.3389/fgene.2022.652454

8,275 views
31 citations

Case Report

Published on 12 Apr 2022

Case Report: Omicron BA.2 Subvariant of SARS-CoV-2 Outcompetes BA.1 in Two Co-infection Cases

in Human and Medical Genomics

Marija Gjorgjievska
Sanja Mehandziska
Aleksandra Stajkovska
Slavica Pecioska-Dokuzovska
Anica Dimovska
Idriz Durmish
Sara Ismail
Teodora Pavlovska
Antonija Stojchevska
Haris Amedi

Frontiers in Genetics

doi 10.3389/fgene.2022.892682

2,953 views
7 citations

Original Research

Published on 11 Apr 2022

Neural Networks for Classification and Image Generation of Aging in Genetic Syndromes

in Human and Medical Genomics

Dat Duong
Ping Hu
Cedrik Tekendo-Ngongang
Suzanna E. Ledgister Hanchard
Simon Liu
Benjamin D. Solomon
Rebekah L. Waikel

Frontiers in Genetics

doi 10.3389/fgene.2022.864092

2,928 views
16 citations

Original Research

Published on 11 Apr 2022

DeepLION: Deep Multi-Instance Learning Improves the Prediction of Cancer-Associated T Cell Receptors for Accurate Cancer Detection

in Human and Medical Genomics

Ying Xu
Xinyang Qian
Xuanping Zhang
Xin Lai
Yuqian Liu
Jiayin Wang

Frontiers in Genetics

doi 10.3389/fgene.2022.860510

3,613 views
9 citations

Original Research

Published on 08 Apr 2022

Exploration of Reduced Mitochondrial Content–Associated Gene Signature and Immunocyte Infiltration in Colon Adenocarcinoma by an Integrated Bioinformatic Analysis

in Human and Medical Genomics

Jinlin Kang
Na li
Fen Wang
Yan Wei
Yangyang Zeng
Qifan Luo
Xuehua Sun
Hui Xu
Jin Peng
Fuxiang Zhou

Frontiers in Genetics

doi 10.3389/fgene.2022.832331

3,525 views
1 citation

Perspective

Published on 08 Apr 2022

The Development of Education of Public Health Nurses for Applying Genomics in Preventive Health Care

in Human and Medical Genomics

Mari Laaksonen
Elisa Airikkala
Arja Halkoaho

Frontiers in Genetics

doi 10.3389/fgene.2022.849232

3,238 views
5 citations

Original Research

Published on 08 Apr 2022

Prevalence of Clinically Relevant Germline BRCA Variants in a Large Unselected South African Breast and Ovarian Cancer Cohort: A Public Sector Experience

in Human and Medical Genomics

Nerina C. Van der Merwe
Herkulaas MvE Combrink
Kholiwe S. Ntaita
Jaco Oosthuizen

Frontiers in Genetics

doi 10.3389/fgene.2022.834265

8,165 views
15 citations

Original Research

Published on 06 Apr 2022

Characterization of Plasma Extrachromosomal Circular DNA in Gouty Arthritis

in Human and Medical Genomics

Jingyuan Pang
Xiaoguang Pan
Ling Lin
Lei Li
Shuai Yuan
Peng Han
Xiaopeng Ji
Hailong Li
Can Wang
Zhaobin Chu

Frontiers in Genetics

doi 10.3389/fgene.2022.859513

5,247 views
16 citations

Editorial

Published on 05 Apr 2022

Editorial: Copy Number Variation in Rare Disorders

in Human and Medical Genomics

Katalin Komlósi
Attila Gyenesei
Judit Bene

Frontiers in Genetics

doi 10.3389/fgene.2022.898059

4,253 views
6 citations

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Articles

Novel Heterozygous Missense Variant in GRIA4 Gene Associated With Neurodevelopmental Disorder With or Without Seizures and Gait Abnormalities

Individualized Medicine in Africa: Bringing the Practice Into the Realms of Population Heterogeneity

Interest in Cancer Predisposition Testing and Carrier Screening Offered as Part of Routine Healthcare Among an Ethnically Diverse Sample of Young Women

Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders

Hepatic Models in Precision Medicine: An African Perspective on Pharmacovigilance

Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases

Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

Case Report: Omicron BA.2 Subvariant of SARS-CoV-2 Outcompetes BA.1 in Two Co-infection Cases

Neural Networks for Classification and Image Generation of Aging in Genetic Syndromes

DeepLION: Deep Multi-Instance Learning Improves the Prediction of Cancer-Associated T Cell Receptors for Accurate Cancer Detection

Exploration of Reduced Mitochondrial Content–Associated Gene Signature and Immunocyte Infiltration in Colon Adenocarcinoma by an Integrated Bioinformatic Analysis

The Development of Education of Public Health Nurses for Applying Genomics in Preventive Health Care

Prevalence of Clinically Relevant Germline BRCA Variants in a Large Unselected South African Breast and Ovarian Cancer Cohort: A Public Sector Experience

Characterization of Plasma Extrachromosomal Circular DNA in Gouty Arthritis

Editorial: Copy Number Variation in Rare Disorders