CASE REPORT
Published on 27 Sep 2022
Case Report: Progressive central conducting lymphatic abnormalities in the RASopathies. Two case reports, including successful treatment by MEK inhibition
doi 10.3389/fgene.2022.1001105
- 3,202 views
- 12 citations
- Frontiers in Genetics
- Human and Medical Genomics
- Research Topics
- Genomics from bench to bedside: the impact of rapidly evolving genomic technologies from gene discovery to patient management
Genomics from bench to bedside: the impact of rapidly evolving genomic technologies from gene discovery to patient management
8,537
Total Downloads
37k
Total Views and Downloads
Submit your idea
You will be redirected to our submission process.
Articles
REVIEW
Published on 01 Jul 2021
Splicing in the Diagnosis of Rare Disease: Advances and Challenges
doi 10.3389/fgene.2021.689892
- 16,175 views
- 59 citations
REVIEW
Published on 17 Jun 2021
Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes
doi 10.3389/fgene.2021.674295
- 7,433 views
- 30 citations
MINI REVIEW
Published on 20 May 2021
From Disease Description and Gene Discovery to Functional Cell Pathway: A Decade-Long Journey for TMCO1
doi 10.3389/fgene.2021.652400
- 2,953 views
- 5 citations
ORIGINAL RESEARCH
Published on 31 Dec 2020
Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update
doi 10.3389/fgene.2020.580484
- 4,039 views
- 15 citations
Published in
Frontiers in Genetics
- Human and Medical Genomics
Impact
- 37kTopic views
- 27kArticle views
- 8,537Article downloads