Frontiers in Genetics | Human and Medical Genomics

Brief Research Report

Published on 29 Jan 2024

Recurrent “outsider” intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb

in Human and Medical Genomics

Lamisse Mansour-Hendili
Cyril Gitiaux
Madeleine Harion
Céline Latouche
Bénédicte Heron
Tanya Stojkovic
Mélanie Rama
Thomas Smol
Anne Sophie Jourdain
Karine Mention

Frontiers in Genetics

doi 10.3389/fgene.2024.1352006

1,682 views
1 citation

Original Research

Published on 22 Jan 2024

Prenatal diagnosis of fetuses with ultrasound anomalies by whole-exome sequencing in Luoyang city, China

in Human and Medical Genomics

Yanan Wang
Fan Yin
Yuqiong Chai
Jiapei Jin
Pai Zhang
Qianqian Tan
Zhigang Chen

Frontiers in Genetics

doi 10.3389/fgene.2023.1301439

3,274 views
2 citations

Original Research

Published on 19 Jan 2024

Uncovering the clinical relevance of unclassified variants in DNA repair genes: a focus on BRCA negative Tunisian cancer families

in Human and Medical Genomics

Maroua Boujemaa
Fatma Nouira
Nouha Jandoubi
Nesrine Mejri
Hanen Bouaziz
Cherine Charfeddine
Sonia Ben Nasr
Soumaya Labidi
Houda El Benna
Yosra Berrazega

Frontiers in Genetics

doi 10.3389/fgene.2024.1327894

2,638 views

Review

Published on 18 Jan 2024

The expansion of liquid biopsies to vascular care: an overview of existing principles, techniques and potential applications to vascular malformation diagnostics

in Human and Medical Genomics

Ann Mansur
Ivan Radovanovic

Frontiers in Genetics

doi 10.3389/fgene.2024.1348096

2,292 views
3 citations

Case Report

Published on 18 Jan 2024

Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review

in Human and Medical Genomics

Umamaheswaran Gurusamy
Swetha Ramadesikan
Mohammad Marhabaie
Caitlyn M. Colwell
Jesse M. Hunter
Marco L. Leung
Elaine R. Mardis
Peter White
Murugu Manickam
Richard K. Wilson

Frontiers in Genetics

doi 10.3389/fgene.2023.1298574

2,009 views

Original Research

Published on 11 Jan 2024

Clinical and genetic risk factors associated with neonatal severe hyperbilirubinemia: a case–control study based on the China Neonatal Genomes Project

in Human and Medical Genomics

Xiao Wang
Tiantian Xiao
Jin Wang
Bingbing Wu
Huijun Wang
Yulan Lu
Yaqiong Wang
Bin Chen
Liyuan Hu
Yun Cao

Frontiers in Genetics

doi 10.3389/fgene.2023.1292921

1,987 views
1 citation

Original Research

Published on 08 Jan 2024

Piezo1 mutant zebrafish as a model of idiopathic scoliosis

in Human and Medical Genomics

Ramli
Toshihiro Aramaki
Masakatsu Watanabe
Shigeru Kondo

Frontiers in Genetics

doi 10.3389/fgene.2023.1321379

4,423 views
3 citations

Mini Review

Published on 08 Jan 2024

Navigating the genetic landscape of breast cancer in South Africa amidst a developing healthcare system

in Human and Medical Genomics

Jaco Oosthuizen
Nerina C. Van der Merwe
Maritha J. Kotze

Frontiers in Genetics

doi 10.3389/fgene.2023.1330946

2,108 views
1 citation

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

in Human and Medical Genomics

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

2,045 views
3 citations

Case Report

Published on 08 Jan 2024

Case report: A novel mutation in the EYA1 gene in a child with branchiootic syndrome with secretory otitis media and bilateral vestibular hypofunction

in Human and Medical Genomics

Jun He
Ahmad Mahmoudi
Yu Gu
Jinfeng Fu
Qiulin Yuan
Wei Liu

Frontiers in Genetics

doi 10.3389/fgene.2023.1292085

1,414 views
1 citation

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

2,110 views
1 citation

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

3,550 views
2 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

4,452 views
7 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

1,948 views
5 citations

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

2,804 views

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

2,641 views
1 citation

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Articles

Recurrent “outsider” intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb

Prenatal diagnosis of fetuses with ultrasound anomalies by whole-exome sequencing in Luoyang city, China

Uncovering the clinical relevance of unclassified variants in DNA repair genes: a focus on BRCA negative Tunisian cancer families

The expansion of liquid biopsies to vascular care: an overview of existing principles, techniques and potential applications to vascular malformation diagnostics

Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review

Clinical and genetic risk factors associated with neonatal severe hyperbilirubinemia: a case–control study based on the China Neonatal Genomes Project

Piezo1 mutant zebrafish as a model of idiopathic scoliosis

Navigating the genetic landscape of breast cancer in South Africa amidst a developing healthcare system

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

Case report: A novel mutation in the EYA1 gene in a child with branchiootic syndrome with secretory otitis media and bilateral vestibular hypofunction

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

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

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

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

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