Molecular Genetics & Genomic Medicine
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Publication Venue For
- IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells.. 7:e686. 2019
- Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation.. 7:e593. 2019
- Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms.. 7:e00676. 2019
- IGNITE network: Response of patients to genomic medicine interventions.. 7:e636. 2019
- Association of common candidate variants with vascular malformations and intracranial hemorrhage in hereditary hemorrhagic telangiectasia.. 6:350-356. 2018