Frontiers in Genetics

Case Report

Published on 05 Jan 2024

Variable clinical presentation of split hand/foot malformation syndrome in a family with microduplication of 10q24.32: a case report

in Human and Medical Genomics

Daria Akimova
Tatiana Markova
Maria Ampleeva
Mikhail Skoblov

Frontiers in Genetics

doi 10.3389/fgene.2023.1303807

4,287 views
2 citations

Brief Research Report

Published on 05 Jan 2024

Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications

in Genetics of Common and Rare Diseases

Magdalena Krygier
Marta Pietruszka
Marta Zawadzka
Agnieszka Sawicka
Anna Lemska
Monika Limanówka
Jan Żurek
Weronika Talaśka-Liczbik
Maria Mazurkiewicz-Bełdzińska

Frontiers in Genetics

doi 10.3389/fgene.2023.1300952

5,984 views
6 citations

Original Research

Published on 05 Jan 2024

Comparative transcriptomic analysis of Illumina and MGI next-generation sequencing platforms using RUNX3- and ZBTB46-instructed embryonic stem cells

in Genomic Assay Technology

Szilárd Póliska
Chahra Fareh
Adél Lengyel
Loránd Göczi
József Tőzsér
Istvan Szatmari

Frontiers in Genetics

doi 10.3389/fgene.2023.1275383

6,106 views
7 citations

Original Research

Published on 05 Jan 2024

Phylogenetic conservation of Trop-2 across species—rodent and primate genomics model anti-Trop-2 therapy for pre-clinical benchmarks

in Pharmacogenetics and Pharmacogenomics

Emanuela Guerra
Marco Trerotola
Valeria Relli
Rossano Lattanzio
Khouloud Boujnah
Nicole Travali
Antonino Moschella
Paolo Todaro
Laura Pierdomenico
Roberta Di Pietro

Frontiers in Genetics

doi 10.3389/fgene.2023.1297367

5,984 views
2 citations

Original Research

Published on 05 Jan 2024

Causal association between colorectal cancer and Alzheimer’s disease: a bidirectional two-sample mendelian randomization study

in Applied Genetic Epidemiology

Chunsheng Yuan
Saisai Liu
Kezhen Yang
Feiyu Xie
Yinan Li
Yantong Guo
Wenjun Zhao
Jincheng Zhang
Zhiqiang Cheng

Frontiers in Genetics

doi 10.3389/fgene.2023.1180905

5,968 views
8 citations

Data Report

Published on 04 Jan 2024

Systematic comparison of variant calling pipelines of target genome sequencing cross multiple next-generation sequencers

in Genomic Assay Technology

Baosheng Feng
Juan Lai
Xue Fan
Yongfeng Liu
Miao Wang
Ping Wu
Zhiliang Zhou
Qin Yan
Lei Sun

Frontiers in Genetics

doi 10.3389/fgene.2023.1293974

8,717 views
5 citations

Original Research

Published on 04 Jan 2024

Association between gut microbiota and glioblastoma: a Mendelian randomization study

in Statistical Genetics and Methodology

Song Wang
Fangxu Yin
Zheng Guo
Rui Li
Wei Sun
Yuchao Wang
Yichen Geng
Chao Sun
Daqing Sun

Frontiers in Genetics

doi 10.3389/fgene.2023.1308263

8,875 views
23 citations

Original Research

Published on 04 Jan 2024

Integration of multi-omics technologies for molecular diagnosis in ataxia patients

in Neurogenomics

Sebastien Audet
Valerie Triassi
Myriam Gelinas
Nab Legault-Cadieux
Vincent Ferraro
Antoine Duquette
Martine Tetreault

Frontiers in Genetics

doi 10.3389/fgene.2023.1304711

5,833 views
5 citations

Brief Research Report

Published on 04 Jan 2024

Exploiting in silico structural analysis to introduce emerging genotype–phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study

in Genetics of Common and Rare Diseases

Dario Cocciadiferro
Tommaso Mazza
Davide Vecchio
Tommaso Biagini
Francesco Petrizzelli
Emanuele Agolini
Andrea Villani
Daniele Minervino
Diego Martinelli
Cristiano Rizzo

Frontiers in Genetics

doi 10.3389/fgene.2023.1307934

3,776 views
9 citations

Original Research

Published on 04 Jan 2024

Dissecting cellular heterogeneity and intercellular communication in cholangiocarcinoma: implications for individualized therapeutic strategies

in Cancer Genetics and Oncogenomics

Zun-Qiang Zhou
Yi Zhang
Zi-Yang Xu
Xiao-Li Tang
Xiao-Hua Chen
Jiao Guan
Zheng-Yun Zhang

Frontiers in Genetics

doi 10.3389/fgene.2023.1241834

3,650 views
6 citations

Original Research

Published on 04 Jan 2024

“A very big challenge”: a qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in England

in Human and Medical Genomics

Bettina Friedrich
Cecilia Vindrola-Padros
Anneke M. Lucassen
Chris Patch
Angus Clarke
Monica Lakhanpaul
Celine Lewis

Frontiers in Genetics

doi 10.3389/fgene.2023.1282034

8,030 views
19 citations

Original Research

Published on 04 Jan 2024

Placental cytochrome P450 methylomes in infants exposed to prenatal opioids: exploring the effects of neonatal opioid withdrawal syndrome on health horizons

in Human and Medical Genomics

Uppala Radhakrishna
Senthilkumar Sadhasivam
Rupa Radhakrishnan
Ariadna Forray
Srinivas B. Muvvala
Raghu P. Metpally
Saumya Patel
Rakesh M. Rawal
Sangeetha Vishweswaraiah
Ray O. Bahado-Singh

Frontiers in Genetics

doi 10.3389/fgene.2023.1292148

5,267 views
4 citations

Original Research

Published on 03 Jan 2024

Estimation of genetic parameters for fertility traits in Chinese Holstein of south China

in Livestock Genomics

Kai Zhu
Tuowu Li
Dengying Liu
Shiyi Wang
Sihu Wang
Qishan Wang
Yuchun Pan
Linsen Zan
Peipei Ma

Frontiers in Genetics

doi 10.3389/fgene.2023.1288375

2,722 views
8 citations

Original Research

Published on 03 Jan 2024

Genetics in the X-Men film franchise: mutants as allegories of difference

in ELSI in Science and Genetics

Sonora R. Grimsted
Katerina G. Krizner
Cynthia D. Porter
Jay Clayton

Frontiers in Genetics

doi 10.3389/fgene.2023.1331905

20,479 views
6 citations

Mini Review

Published on 03 Jan 2024

Moving towards the implementation of pharmacogenetic testing in Quebec

in Pharmacogenetics and Pharmacogenomics

Ling Jing Li
Samuel Legeay
Ann-Lorie Gagnon
Marie-Pier Frigon
Laurence Tessier
Karine Tremblay

Frontiers in Genetics

doi 10.3389/fgene.2023.1295963

4,922 views
4 citations

Original Research

Published on 03 Jan 2024

Mapping yield and yield-related traits using diverse common bean germplasm

in Genomics of Plants and the Phytoecosystem

Yarmilla Reinprecht
Lyndsay Schram
Gregory E. Perry
Emily Morneau
Thomas H. Smith
K. Peter Pauls

Frontiers in Genetics

doi 10.3389/fgene.2023.1246904

4,055 views
4 citations

Original Research

Published on 03 Jan 2024

CCL7 and olfactory transduction pathway activation play an important role in the formation of CaOx and CaP kidney stones

in Human and Medical Genomics

Qiankun Zhang
Hhuiling Wei
Gang Huang
Lie Jin

Frontiers in Genetics

doi 10.3389/fgene.2023.1267545

3,089 views
7 citations

General Commentary

Published on 22 Dec 2023

Commentary: Case report: Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) presenting with liver cirrhosis and steroid-responsive interstitial pneumonia

in Genetics of Common and Rare Diseases

Filippo M. Panfili
Andrea Pietrobattista
Davide Vecchio
Michaela V. Gonfiantini
Andrea Bartuli
Marina Macchiaiolo

Frontiers in Genetics

doi 10.3389/fgene.2023.1255807

2,621 views

Original Research

Published on 22 Dec 2023

Variant spectrum of F8 and F9 in hemophilia patients from southern China and 26 novel variants

in Human and Medical Genomics

Fucheng Li
Liya He
Guilan Chen
Yan Lu
Ru Li
Yongling Zhang
Xiangyi Jing
Rujuan Ling
Dongzhi Li
Can Liao

Frontiers in Genetics

doi 10.3389/fgene.2023.1254265

4,314 views
2 citations

Case Report

Published on 21 Dec 2023

Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in PARD6G-AS1 promotor in a case with arthrogryposis

in Human and Medical Genomics

Johanna Moch
Maximilian Radtke
Janina Gburek-Augustat
Maike Karnstedt
Senta Schönnagel
Stephan H. Drukewitz
Laura Pilgram
Julia Hentschel
Isabell Schumann

Frontiers in Genetics

doi 10.3389/fgene.2023.1297754

4,092 views
1 citation

Original Research

Published on 21 Dec 2023

Two-sample Mendelian randomization study reveals no causal relationship between inflammatory bowel disease and urological cancers

in Cancer Genetics and Oncogenomics

Haoyang Zhang
Can Hu
Zhiyu Zhang
Peng Li
Gang Shen
Jiale Sun

Frontiers in Genetics

doi 10.3389/fgene.2023.1275247

3,716 views

Editorial

Published on 20 Dec 2023

Editorial: Solanaceae VIII: biodiversity, climate change and breeding

in Genetics and Genomics of Plants and Plant-Associated Organisms

Péter Poczai
Nunzio D’Agostino
Rocio Deanna
Ezio Portis

Frontiers in Genetics

doi 10.3389/fgene.2023.1348372

2,833 views
3 citations

Case Report

Published on 20 Dec 2023

Importance of comprehensive genetic testing for patients with suspected vascular Ehlers–Danlos syndrome: a family case report and literature review

in Genetics of Common and Rare Diseases

Xianda Wei
Xu Zhou
BoBo Xie
Meizhen Shi
Chunrong Gui
Bo Liu
Caiyan Li
Chi Zhang
Jiefeng Luo
Cundong Mi

Frontiers in Genetics

doi 10.3389/fgene.2023.1246712

5,131 views
1 citation

Original Research

Published on 20 Dec 2023

Association between glycemic traits and melanoma: a mendelian randomization analysis

in Applied Genetic Epidemiology

Yun-Chao Zhang
Cen-Di Lu
Quan-Yao Li
Jin-Na Shi
Jun Shi
Min Yang

Frontiers in Genetics

doi 10.3389/fgene.2023.1260367

4,038 views
1 citation

16,588 articles

articles

Variable clinical presentation of split hand/foot malformation syndrome in a family with microduplication of 10q24.32: a case report

Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications

Comparative transcriptomic analysis of Illumina and MGI next-generation sequencing platforms using RUNX3- and ZBTB46-instructed embryonic stem cells

Phylogenetic conservation of Trop-2 across species—rodent and primate genomics model anti-Trop-2 therapy for pre-clinical benchmarks

Causal association between colorectal cancer and Alzheimer’s disease: a bidirectional two-sample mendelian randomization study

Systematic comparison of variant calling pipelines of target genome sequencing cross multiple next-generation sequencers

Association between gut microbiota and glioblastoma: a Mendelian randomization study

Integration of multi-omics technologies for molecular diagnosis in ataxia patients

Exploiting in silico structural analysis to introduce emerging genotype–phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study

Dissecting cellular heterogeneity and intercellular communication in cholangiocarcinoma: implications for individualized therapeutic strategies

“A very big challenge”: a qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in England

Placental cytochrome P450 methylomes in infants exposed to prenatal opioids: exploring the effects of neonatal opioid withdrawal syndrome on health horizons

Estimation of genetic parameters for fertility traits in Chinese Holstein of south China

Genetics in the X-Men film franchise: mutants as allegories of difference

Moving towards the implementation of pharmacogenetic testing in Quebec

Mapping yield and yield-related traits using diverse common bean germplasm

CCL7 and olfactory transduction pathway activation play an important role in the formation of CaOx and CaP kidney stones

Commentary: Case report: Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) presenting with liver cirrhosis and steroid-responsive interstitial pneumonia

Variant spectrum of F8 and F9 in hemophilia patients from southern China and 26 novel variants

Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in PARD6G-AS1 promotor in a case with arthrogryposis

Two-sample Mendelian randomization study reveals no causal relationship between inflammatory bowel disease and urological cancers

Editorial: Solanaceae VIII: biodiversity, climate change and breeding

Importance of comprehensive genetic testing for patients with suspected vascular Ehlers–Danlos syndrome: a family case report and literature review

Association between glycemic traits and melanoma: a mendelian randomization analysis