Review
Published on 28 Mar 2024
Review of childhood genetic nephrolithiasis and nephrocalcinosis
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1381174
- 7,953 views
- 4 citations
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722 articles
Original Research
Published on 15 Mar 2024
Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1347474
- 4,939 views
- 1 citation
Original Research
Published on 13 Mar 2024
Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1358334
- 3,665 views
- 3 citations
Systematic Review
Published on 11 Mar 2024
Salivary miRNAs as auxiliary liquid biopsy biomarkers for diagnosis in patients with oropharyngeal squamous cell carcinoma: a systematic review and meta-analysis
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1352838
- 2,365 views
- 3 citations
Case Report
Published on 11 Mar 2024
Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen–Kolk syndrome
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1354715
- 3,517 views
- 1 citation
Correction
Published on 11 Mar 2024
Corrigendum: Chromatin structure and context-dependent sequence features control prime editing efficiency
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1391923
- 1,758 views
Review
Published on 06 Mar 2024
Long read sequencing on its way to the routine diagnostics of genetic diseases
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1374860
- 11,380 views
- 24 citations
Original Research
Published on 21 Feb 2024
Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1352063
- 2,625 views
Original Research
Published on 19 Feb 2024
The role of microRNAs in defining LSECs cellular identity and in regulating F8 gene expression
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1302685
- 2,850 views
Case Report
Published on 15 Feb 2024
Diagnostic utility of DNA methylation episignature analysis for early diagnosis of KMT2B-related disorders: case report
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1346044
- 3,524 views
Original Research
Published on 15 Feb 2024
Identification of new variants in patients with mucopolysaccharidosis in consanguineous Iranian families
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1343094
- 2,477 views
- 2 citations
Systematic Review
Published on 14 Feb 2024
Circulating miRNAs as biomarkers for the diagnosis in patients with melanoma: systematic review and meta-analysis
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1339357
- 2,691 views
- 6 citations
Original Research
Published on 08 Feb 2024
Functional impact of multi-omic interactions in lung cancer
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1282241
- 3,342 views
Original Research
Published on 08 Feb 2024
A MYH7 variant in a five-generation-family with hypertrophic cardiomyopathy
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1306333
- 3,905 views
- 3 citations
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
Frontiers in Genetics
doi 10.3389/fgene.2024.1352006
- 2,177 views
- 5 citations
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
Frontiers in Genetics
doi 10.3389/fgene.2023.1301439
- 4,111 views
- 5 citations