Original Research
Published on 08 Jan 2024
Piezo1 mutant zebrafish as a model of idiopathic scoliosis
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2023.1321379
- 7,672 views
- 6 citations
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846 articles
articles
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
Frontiers in Genetics
doi 10.3389/fgene.2023.1330946
- 3,690 views
- 6 citations
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
Frontiers in Genetics
doi 10.3389/fgene.2023.1304520
- 4,431 views
- 8 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
Frontiers in Genetics
doi 10.3389/fgene.2023.1292085
- 2,807 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
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2023.1303807
- 4,277 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
Frontiers in Genetics
doi 10.3389/fgene.2023.1282034
- 8,016 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
Frontiers in Genetics
doi 10.3389/fgene.2023.1292148
- 5,258 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
Frontiers in Genetics
doi 10.3389/fgene.2023.1267545
- 3,080 views
- 7 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
Frontiers in Genetics
doi 10.3389/fgene.2023.1254265
- 4,300 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
Frontiers in Genetics
doi 10.3389/fgene.2023.1297754
- 4,081 views
- 1 citation
Mini Review
Published on 13 Dec 2023
Genetic contribution of breast cancer genes in women of black African origin
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2023.1302645
- 5,258 views
- 2 citations
Case Report
Published on 13 Dec 2023
The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2023.1322067
- 2,997 views
Case Report
Published on 04 Dec 2023
Case report: Genetic analysis of a novel intronic inversion variant in the SPTB gene associated with hereditary spherocytosis
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2023.1309040
- 2,632 views
- 3 citations
Original Research
Published on 16 Nov 2023
Lipid-lowering drugs affect lung cancer risk via sphingolipid metabolism: a drug-target Mendelian randomization study
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2023.1269291
- 6,747 views
- 8 citations
Case Report
Published on 09 Nov 2023
Case report: A frameshift mutation in CLCN2-related leukoencephalopathy and retinopathy
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2023.1278961
- 2,712 views
- 4 citations
Case Report
Published on 06 Nov 2023
Diffuse large B-cell lymphoma with continuously elevated immunoglobulin M following treatment: a case report with pathologic, immunophenotypic, and molecular analyses
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2023.1228372
- 4,146 views
Original Research
Published on 06 Nov 2023
A machine learning-based radiomics model for prediction of tumor mutation burden in gastric cancer
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2023.1283090
- 3,521 views
- 10 citations
Original Research
Published on 03 Nov 2023
Comparative analyses of salivary exosomal miRNAs for patients with or without lung cancer
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2023.1249678
- 3,405 views
- 11 citations
Original Research
Published on 01 Nov 2023
Construction of predictive model of interstitial fibrosis and tubular atrophy after kidney transplantation with machine learning algorithms
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2023.1276963
- 4,406 views
- 8 citations
Original Research
Published on 31 Oct 2023
ODAD1 variants resulting from splice-site mutations retain partial function and cause primary ciliary dyskinesia with outer dynein arm defects
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2023.1270278
- 3,324 views
- 1 citation
Opinion
Published on 26 Oct 2023
Absence of Association between a Long COVID and Severe COVID-19 Risk Variant of FOXP4 and Lung Cancer
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2023.1258829
- 4,602 views
- 9 citations
Case Report
Published on 20 Oct 2023
CEP55-associated lethal fetal syndrome: a case report of a Chinese family
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2023.1267241
- 3,757 views
- 3 citations
Brief Research Report
Published on 19 Oct 2023
Identification and functional characterization of de novo variant in the SYNGAP1 gene causing intellectual disability
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2023.1270175
- 3,773 views
- 2 citations
Case Report
Published on 17 Oct 2023
Case report: Paternal uniparental disomy on chromosome 7 and homozygous SUGCT mutation in a fetus with overweight after birth
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2023.1272028
- 3,582 views
- 4 citations