Frontiers in Genetics | Human and Medical Genomics

Case Report

Published on 17 Aug 2023

Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors

in Human and Medical Genomics

Viola Bianca Serio
Maria Palmieri
Simona Innamorato
Lorenzo Loberti
Chiara Fallerini
Francesca Ariani
Enrica Antolini
Jasmine Covarelli
Massimo Vaghi
Elisa Frullanti

Frontiers in Genetics

doi 10.3389/fgene.2023.1213283

2,656 views
3 citations

Review

Published on 17 Aug 2023

Delineating intra-tumoral heterogeneity and tumor evolution in breast cancer using precision-based approaches

in Human and Medical Genomics

Kutlwano Rekgopetswe Xulu
Ekene Emmanuel Nweke
Tanya Nadine Augustine

Frontiers in Genetics

doi 10.3389/fgene.2023.1087432

4,399 views
7 citations

Systematic Review

Published on 09 Aug 2023

Genetics and athletic performance: a systematic SWOT analysis of non-systematic reviews

in Human and Medical Genomics

Magdalena Johanna Konopka
Billy Sperlich
Gerard Rietjens
Maurice Petrus Zeegers

Frontiers in Genetics

doi 10.3389/fgene.2023.1232987

5,318 views
7 citations

Editorial

Published on 09 Aug 2023

Editorial: Elucidation of the causes of human disease by multi-omics integration

in Human and Medical Genomics

Marta Rusmini
Francesca Lantieri

Frontiers in Genetics

doi 10.3389/fgene.2023.1271406

1,254 views

Case Report

Published on 08 Aug 2023

Case report: Progressive pulmonary artery hypertension in a case of megalencephaly-capillary malformation syndrome

in Human and Medical Genomics

Yuri Yoh
Tadashi Shiohama
Tomoko Uchida
Ryota Ebata
Hironobu Kobayashi
Kentaro Okunushi
Mitsuhiro Kato
Kazuki Watanabe
Mitsuko Nakashima
Hirotomo Saitsu

Frontiers in Genetics

doi 10.3389/fgene.2023.1221745

1,943 views
2 citations

Mini Review

Published on 03 Aug 2023

The growing needs of genetic counselling—Feasibility in utilization of tele-genetic counselling in Asia and Hong Kong

in Human and Medical Genomics

Annie Tsz Wai Chu
Claudia Ching Yan Chung
Shirley Pik Ying Hue
Brian Hon Yin Chung

Frontiers in Genetics

doi 10.3389/fgene.2023.1239817

3,428 views
3 citations

Original Research

Published on 27 Jul 2023

Transcriptomic analysis of paired healthy human skeletal muscles to identify modulators of disease severity in DMD

in Human and Medical Genomics

Shirley Nieves-Rodriguez
Florian Barthélémy
Jeremy D. Woods
Emilie D. Douine
Richard T. Wang
Deirdre D. Scripture-Adams
Kevin N. Chesmore
Francesca Galasso
M. Carrie Miceli
Stanley F. Nelson

Frontiers in Genetics

doi 10.3389/fgene.2023.1216066

5,449 views
3 citations

Case Report

Published on 17 Jul 2023

Case report: A case report of Alport syndrome caused by a novel mutation of COL4A5

in Human and Medical Genomics

Shujun Pan
Rizhen Yu
Shikai Liang

Frontiers in Genetics

doi 10.3389/fgene.2023.1216809

6,799 views

Original Research

Published on 12 Jul 2023

graph-GPA 2.0: improving multi-disease genetic analysis with integration of functional annotation data

in Human and Medical Genomics

Qiaolan Deng
Arkobrato Gupta
Hyeongseon Jeon
Jin Hyun Nam
Ayse Selen Yilmaz
Won Chang
Maciej Pietrzak
Lang Li
Hang J. Kim
Dongjun Chung

Frontiers in Genetics

doi 10.3389/fgene.2023.1079198

2,211 views
2 citations

Case Report

Published on 12 Jul 2023

Prenatal diagnosis in a fetuses with a clenched hands, overlapping fingers, and clubfoot due to MED12 deficiency in three affected siblings: A case report

in Human and Medical Genomics

Huiqin Xue
Qiaoyin Tang
Yu Feng
Chenyue Zhao
Ke Xu
Weiyue Gu
Zhaoyu Xue
Xinyan Li
Jinsong Jiang
Hongyong Lu

Frontiers in Genetics

doi 10.3389/fgene.2023.1037345

5,499 views

Editorial

Published on 10 Jul 2023

Editorial: Next generation sequencing (NGS) for rare diseases diagnosis ‐ Volume II

in Human and Medical Genomics

Xiu-An Yang
Hu Hao
Can Liao

Frontiers in Genetics

doi 10.3389/fgene.2023.1249585

2,857 views
3 citations

Correction

Published on 10 Jul 2023

Corrigendum: Identifying key m6A-methylated lncRNAs and genes associated with neural tube defects via integrative MeRIP and RNA sequencing analyses

in Human and Medical Genomics

Jing Yang
Jing Xu
Luting Zhang
Yingting Li
Min Chen

Frontiers in Genetics

doi 10.3389/fgene.2023.1198975

1,430 views

Case Report

Published on 06 Jul 2023

Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report

in Human and Medical Genomics

Olga Levchenko
Alexandra Filatova
Irina Mishina
Aleksey Antonenko
Mikhail Skoblov

Frontiers in Genetics

doi 10.3389/fgene.2023.1197681

3,115 views
1 citation

Original Research

Published on 05 Jul 2023

Integrative profiling of extrachromosomal circular DNA in placenta and maternal plasma provides insights into the biology of fetal growth restriction and reveals potential biomarkers

in Human and Medical Genomics

Minhuan Lin
Yiqing Chen
Shuting Xia
Zhiming He
Xuegao Yu
Linhuan Huang
Shaobin Lin
Binrun Liang
Ziliang Huang
Shiqiang Mei

Frontiers in Genetics

doi 10.3389/fgene.2023.1128082

5,485 views
1 citation

Case Report

Published on 05 Jul 2023

Case report: A novel SON mutation in a Colombian patient with ZTTK syndrome

in Human and Medical Genomics

Diana Marcela Vasquez-Forero
Barbara Masotto
Rosario Ferrer-Avargues
Christian Martin Moya
Harry Pachajoa

Frontiers in Genetics

doi 10.3389/fgene.2023.1183362

4,784 views
3 citations

Original Research

Published on 04 Jul 2023

Gene set variation analysis-based aging and senescence score as a prognostic indicator and therapeutic guide in lung adenocarcinoma

in Human and Medical Genomics

Tao Lin
Hong Wang
Ying Liu
Fangchao Zhao
Xi He

Frontiers in Genetics

doi 10.3389/fgene.2023.1176292

2,807 views
2 citations