Case Report

Published on 31 Aug 2023

Case report: identification of one frameshift variant and two in cis non-canonical splice variants of NEB gene in prenatal arthrogryposis

in Human and Medical Genomics

Yuefang Liu
Juan Xu
Qiaoyi Lv
Zhe Liang
Lingling Li
Qiong Pan

Frontiers in Genetics

doi 10.3389/fgene.2023.1220170

1,230 views

Original Research

Published on 31 Aug 2023

Transcriptome profiling of intact bowel wall reveals that PDE1A and SEMA3D are possible markers with roles in enteric smooth muscle apoptosis, proliferative disorders, and dysautonomia in Crohn’s disease

in Human and Medical Genomics

Yun Yang
Lin Xia
Wenming Yang
Ziqiang Wang
Wenjian Meng
Mingming Zhang
Qin Ma
Junhe Gou
Junjian Wang
Ye Shu

Frontiers in Genetics

doi 10.3389/fgene.2023.1194882

2,566 views

Original Research

Published on 29 Aug 2023

Identification of human genetic variants modulating the course of COVID-19 infection with importance in other viral infections

in Human and Medical Genomics

Lana Salihefendić
Ivana Čeko
Larisa Bešić
Naida Mulahuseinović
Selma Durgut
Dino Pećar
Lejla Prnjavorac
Enis Kandić
Neven Meseldžić
Tamer Bego

Frontiers in Genetics

doi 10.3389/fgene.2023.1240245

2,977 views
4 citations

Original Research

Published on 29 Aug 2023

Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin

in Human and Medical Genomics

Young Hoon Jung
Jay Jiyong Kwak
Kwangsic Joo
Hyuk Jun Lee
Kyu Hyung Park
Min Seok Kim
Eun Kyoung Lee
Suk Ho Byeon
Christopher Seungkyu Lee
Jinu Han

Frontiers in Genetics

doi 10.3389/fgene.2023.1240067

2,900 views
4 citations

Original Research

Published on 25 Aug 2023

Functional analysis of a novel nonsense variant c.91A>T of the TRAPPC2 gene in a Chinese family with X-linked recessive autosomal spondyloepiphyseal dysplasia tarda

in Human and Medical Genomics

Guiyu Lou
Yuanyin Zhao
Huiru Zhao
Yuwei Zhang
Bingtao Hao
Litao Qin
Hongyan Liu
Shixiu Liao

Frontiers in Genetics

doi 10.3389/fgene.2023.1216592

1,706 views

Case Report

Published on 25 Aug 2023

Another de novo mutation in the SOD1 gene: the first Turkish patient with SOD1-His47Arg, a case report

in Human and Medical Genomics

Elif Bayraktar
Vildan Çiftçi
Hilmi Uysal
A. Nazlı Başak

Frontiers in Genetics

doi 10.3389/fgene.2023.1208673

2,209 views

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

2,143 views
2 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

3,074 views
5 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

3,887 views
2 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

1,085 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

1,699 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

2,833 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

4,530 views
1 citation

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

5,442 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

1,859 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

4,280 views

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Articles

Case report: identification of one frameshift variant and two in cis non-canonical splice variants of NEB gene in prenatal arthrogryposis

Transcriptome profiling of intact bowel wall reveals that PDE1A and SEMA3D are possible markers with roles in enteric smooth muscle apoptosis, proliferative disorders, and dysautonomia in Crohn’s disease

Identification of human genetic variants modulating the course of COVID-19 infection with importance in other viral infections

Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin

Functional analysis of a novel nonsense variant c.91A>T of the TRAPPC2 gene in a Chinese family with X-linked recessive autosomal spondyloepiphyseal dysplasia tarda

Another de novo mutation in the SOD1 gene: the first Turkish patient with SOD1-His47Arg, a case report

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

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

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

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

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

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

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

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

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

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