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
- 3,499 views
- 16 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
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Articles
REVIEW
Published on 01 Jul 2021
Splicing in the Diagnosis of Rare Disease: Advances and Challenges
doi 10.3389/fgene.2021.689892
- 16,911 views
- 63 citations
REVIEW
Published on 17 Jun 2021
Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes
doi 10.3389/fgene.2021.674295
- 7,826 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
- 3,164 views
- 6 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
- 4,286 views
- 20 citations
