Frontiers in Genetics

Original Research

Published on 08 Jan 2024

Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease

Abderrahim Marouane
Kornelia Neveling
A. Chantal Deden
Simone van den Heuvel
Dimitra Zafeiropoulou
Steven Castelein
Frank van de Veerdonk
David A. Koolen
Annet Simons
Richard Rodenburg

Frontiers in Genetics

doi 10.3389/fgene.2023.1304520

4,051 views
6 citations

Brief Research Report

Published on 05 Jan 2024

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

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

5,634 views
4 citations

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

Daria Akimova
Tatiana Markova
Maria Ampleeva
Mikhail Skoblov

Frontiers in Genetics

doi 10.3389/fgene.2023.1303807

3,938 views
2 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

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

Frontiers in Genetics

doi 10.3389/fgene.2023.1275383

5,828 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

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

5,557 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

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

5,723 views
8 citations

Original Research

Published on 04 Jan 2024

Association between gut microbiota and glioblastoma: a Mendelian randomization study

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

8,468 views
22 citations

Data Report

Published on 04 Jan 2024

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

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

7,973 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

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

3,495 views
9 citations

Original Research

Published on 04 Jan 2024

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

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

Frontiers in Genetics

doi 10.3389/fgene.2023.1304711

5,507 views
4 citations

Original Research

Published on 04 Jan 2024

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

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

3,435 views
4 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

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

7,378 views
18 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

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

5,046 views
4 citations

Original Research

Published on 03 Jan 2024

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

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

Frontiers in Genetics

doi 10.3389/fgene.2023.1331905

18,858 views
6 citations

Original Research

Published on 03 Jan 2024

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

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

2,484 views
5 citations

Mini Review

Published on 03 Jan 2024

Moving towards the implementation of pharmacogenetic testing in Quebec

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

Frontiers in Genetics

doi 10.3389/fgene.2023.1295963

4,414 views
4 citations

Original Research

Published on 03 Jan 2024

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

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

Frontiers in Genetics

doi 10.3389/fgene.2023.1246904

3,780 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

Qiankun Zhang
Hhuiling Wei
Gang Huang
Lie Jin

Frontiers in Genetics

doi 10.3389/fgene.2023.1267545

2,867 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

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

Frontiers in Genetics

doi 10.3389/fgene.2023.1255807

2,498 views

Original Research

Published on 22 Dec 2023

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

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

4,088 views
1 citation

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

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

3,846 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

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

Frontiers in Genetics

doi 10.3389/fgene.2023.1275247

3,606 views

Editorial

Published on 20 Dec 2023

Editorial: Solanaceae VIII: biodiversity, climate change and breeding

Péter Poczai
Nunzio D’Agostino
Rocio Deanna
Ezio Portis

Frontiers in Genetics

doi 10.3389/fgene.2023.1348372

2,705 views
2 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

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

4,773 views
1 citation

1,639 Publications

volumes

Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease

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

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

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

Association between gut microbiota and glioblastoma: a Mendelian randomization study

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

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

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

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

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

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

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