EDITORIAL
Published on 23 Dec 2021
Editorial: Next Generation Sequencing (NGS) for Rare Diseases Diagnosis
doi 10.3389/fgene.2021.808042
- 3,890 views
- 2 citations
- Frontiers in Genetics
- Human and Medical Genomics
- Research Topics
- Next Generation Sequencing (NGS) for Rare Diseases Diagnosis
Next Generation Sequencing (NGS) for Rare Diseases Diagnosis
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Articles
CASE REPORT
Published on 05 Aug 2021
Case Report: Whole Exome Sequencing Revealed Two Novel Mutations of PIEZO1 Implicated in Nonimmune Hydrops Fetalis
doi 10.3389/fgene.2021.684555
- 2,575 views
- 7 citations
ORIGINAL RESEARCH
Published on 19 Jul 2021
Identification of Variants Associated With Rare Hematological Disorder Erythrocytosis Using Targeted Next-Generation Sequencing Analysis
doi 10.3389/fgene.2021.689868
- 4,266 views
- 11 citations
ORIGINAL RESEARCH
Published on 19 Jul 2021
Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants
doi 10.3389/fgene.2021.682050
- 4,168 views
- 5 citations
ORIGINAL RESEARCH
Published on 07 Jul 2021
Investigation of a Novel LRP6 Variant Causing Autosomal-Dominant Tooth Agenesis
doi 10.3389/fgene.2021.688241
- 2,317 views
- 11 citations
ORIGINAL RESEARCH
Published on 06 Jul 2021
Spectrum of Mutations in Pediatric Non-glomerular Chronic Kidney Disease Stages 2–5
doi 10.3389/fgene.2021.697085
- 2,167 views
- 1 citation
BRIEF RESEARCH REPORT
Published on 25 Jun 2021
Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics
doi 10.3389/fgene.2021.682565
- 2,642 views
- 2 citations
ORIGINAL RESEARCH
Published on 26 May 2021
Renal and Skeletal Anomalies in a Cohort of Individuals With Clinically Presumed Hereditary Nephropathy Analyzed by Molecular Genetic Testing
doi 10.3389/fgene.2021.642849
- 2,571 views
- 3 citations
CASE REPORT
Published on 08 Apr 2021
Case Report: Compound Heterozygous Variants in MOCS3 Identified in a Chinese Infant With Molybdenum Cofactor Deficiency
doi 10.3389/fgene.2021.651878
- 2,748 views
- 8 citations
CASE REPORT
Published on 05 Mar 2021
Case Report: Identification of a de novo Missense Mutation in the F8 Gene, p.(Phe690Leu)/c.2070C > A, Causing Hemophilia A: A Case Report
doi 10.3389/fgene.2020.589899
- 2,910 views
- 1 citation
ORIGINAL RESEARCH
Published on 26 Feb 2021
The Novel Key Genes of Non-obstructive Azoospermia Affect Spermatogenesis: Transcriptomic Analysis Based on RNA-Seq and scRNA-Seq Data
doi 10.3389/fgene.2021.608629
- 6,119 views
- 18 citations
Published in
Frontiers in Genetics
- Human and Medical Genomics
- Genomic MedicineOffline
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