EDITORIAL
Published on 05 Apr 2022
Editorial: Emerging Technologies Powering Rare and Neglected Disease Diagnosis and Theraphy Development
doi 10.3389/fphar.2022.877401
- 1,230 views
- 4 citations
- Frontiers in Pharmacology
- Pharmacogenetics and Pharmacogenomics
- Research Topics
- Emerging Technologies Powering Rare and Neglected Disease Diagnosis and Therapy Development
Emerging Technologies Powering Rare and Neglected Disease Diagnosis and Therapy Development
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Articles
CASE REPORT
Published on 21 Oct 2021
Case Report: Identification of Polygenic Mutations by Exome Sequencing
doi 10.3389/fped.2021.689901
- 2,031 views
ORIGINAL RESEARCH
Published on 11 Oct 2021
Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism
doi 10.3389/fgene.2021.715437
- 3,649 views
- 1 citation
ORIGINAL RESEARCH
Published on 06 Oct 2021
Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers’ Syndrome Genotypes
doi 10.3389/fphar.2021.669516
- 4,352 views
- 5 citations
ORIGINAL RESEARCH
Published on 24 Aug 2021
Transmission of a Novel Imprinting Center Deletion Associated With Prader–Willi Syndrome Through Three Generations of a Chinese Family: Case Presentation, Differential Diagnosis, and a Lesson Worth Thinking About
doi 10.3389/fgene.2021.630650
- 5,036 views
- 2 citations
MINI REVIEW
Published on 23 Aug 2021
Therapeutics Development for Alagille Syndrome
doi 10.3389/fphar.2021.704586
- 7,080 views
- 11 citations
ORIGINAL RESEARCH
Published on 23 Jul 2021
A Novel Germline Compound Heterozygous Mutation of BRCA2 Gene Associated With Familial Peripheral Neuroblastic Tumors in Two Siblings
doi 10.3389/fgene.2021.652718
- 2,411 views
- 1 citation
ORIGINAL RESEARCH
Published on 16 Jul 2021
Mutational Characteristics of Causative Genes in Chinese Hereditary Spherocytosis Patients: a Report on Fourteen Cases and a Review of the Literature
doi 10.3389/fphar.2021.644352
- 2,935 views
- 23 citations
CASE REPORT
Published on 09 Jul 2021
Case Report: Diagnosis of Human Alveolar Echinococcosis via Next-Generation Sequencing Analysis
doi 10.3389/fgene.2021.666225
- 2,298 views
- 6 citations
CASE REPORT
Published on 08 Jul 2021
DNM1L-Related Mitochondrial Fission Defects Presenting as Encephalopathy: A Case Report and Literature Review
doi 10.3389/fped.2021.626657
- 6,467 views
- 24 citations
CASE REPORT
Published on 30 Jun 2021
Case Report: Causative De novo Variants of KCNT2 for Developmental and Epileptic Encephalopathy
doi 10.3389/fgene.2021.649556
- 4,653 views
- 12 citations
ORIGINAL RESEARCH
Published on 07 Jun 2021
Comparative Analysis for the Performance of Long-Read-Based Structural Variation Detection Pipelines in Tandem Repeat Regions
doi 10.3389/fphar.2021.658072
- 2,058 views
- 4 citations
Published in
Frontiers in Pharmacology
Pharmacogenetics and Pharmacogenomics
Translational Pharmacology
Participating Journals
Frontiers in Genetics
- 2.8 impact factor
- 5.5 citescore
Frontiers in Pediatrics
- 2.1 impact factor
- 3.6 citescore