Molecular Genetics & Genomic Medicine
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Publication Venue For
- DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature. 8. 2020
- Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one-carbon metabolism networks.. 8:e1495. 2020
- Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.. 8:e1397. 2020
- 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