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
- 4,935 views
- 4 citations
Type at least 3 characters
798 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
- 2,344 views
- 2 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
- 1,545 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
Frontiers in Genetics
doi 10.3389/fgene.2023.1304520
- 2,251 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
- 2,335 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
Frontiers in Genetics
doi 10.3389/fgene.2023.1292148
- 3,834 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
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2023.1282034
- 4,926 views
- 9 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
- 2,051 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
Frontiers in Genetics
doi 10.3389/fgene.2023.1254265
- 3,004 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
Frontiers in Genetics
doi 10.3389/fgene.2023.1297754
- 2,781 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
- 3,403 views
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
- 1,919 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
- 1,773 views
- 2 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
- 5,413 views
- 7 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
- 1,862 views
- 2 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
- 2,602 views