Original Research
Published on 18 Jun 2024
Prenatal diagnosis and family analysis of 17q12 microdeletion syndrome with fetal renal abnormalities
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1401315
- 913 views
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772 articles
Articles
Original Research
Published on 14 Jun 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1408952
- 910 views
Original Research
Published on 12 Jun 2024
Integrative transcriptomic profiling of ncRNAs and mRNAs in developing mouse lens
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1405715
- 913 views
Mini Review
Published on 12 Jun 2024
Management of pregnancy in women with monogenic diabetes due to mutations in GCK, HNF1A and HNF4A genes
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1362977
- 1,426 views
- 2 citations
Original Research
Published on 06 Jun 2024
Genetic Landscape of SH3TC2 variants in Russian patients with Charcot–Marie–Tooth disease
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1381915
- 750 views
Original Research
Published on 05 Jun 2024
Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1401705
- 1,411 views
- 1 citation
Review
Published on 04 Jun 2024
Molecular mechanisms of human overgrowth and use of omics in its diagnostics: chances and challenges
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1382371
- 1,340 views
Brief Research Report
Published on 23 May 2024
Retrospective study revealed integration of CNV-seq and karyotype analysis is an effective strategy for prenatal diagnosis of chromosomal abnormalities
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1387724
- 937 views
- 1 citation
Case Report
Published on 23 May 2024
Case report: Early use of whole exome sequencing unveils HNRNPU-related neurodevelopmental disorder and answers additional clinical questions through reanalysis
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1380552
- 1,402 views
Original Research
Published on 22 May 2024
Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1362469
- 1,386 views
Brief Research Report
Published on 17 May 2024
Comparative transcriptomics revealed neurodevelopmental impairments and ferroptosis induced by extremely small iron oxide nanoparticles
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1402771
- 1,127 views
- 1 citation
Data Report
Published on 16 May 2024
Assessing the impact of sequencing platforms and analytical pipelines on whole-exome sequencing
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1334075
- 1,549 views
Original Research
Published on 15 May 2024
Identifying potential drug targets for varicose veins through integration of GWAS and eQTL summary data
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1385293
- 2,525 views
- 1 citation
Original Research
Published on 10 May 2024
A novel NTRK1 splice site variant causing congenital insensitivity to pain with anhidrosis in a Chinese family
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1345081
- 1,346 views
Original Research
Published on 06 May 2024
Causal associations of birth body size and adult body size with systemic lupus erythematosus: a bidirectional mendelian randomization study
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1368497
- 1,031 views
Editorial
Published on 15 Apr 2024
Editorial: Current progress in genomic and genetic research on human viral diseases
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1407559
- 1,230 views