Associated Papers
Desmoplakin Cardiomyopathy Presenting With Recurrent Myopericarditis Responsive to Interleukin-1 Blockade.
Lopez RI et al.
Jacc. Case Reports, 2025
Activated PI3K Delta Syndrome: A Case Presentation and Literature Review.
López Méndez A et al.
Cureus, 2025
The known genetic variants of BRCA1, BRCA2 and NOD2 in pancreatitis and pancreatic cancer risk assessment.
Matykiewicz J et al.
Scientific Reports, 2025
Low-Penetrance Susceptibility Variants in Colorectal Cancer-Current Outlook in the Field.
Szuman M et al.
International Journal of Molecular Sciences, 2024
Unraveling the Natural History of Good's Syndrome: A Progressive Adult Combined Immunodeficiency.
Kabir A et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2024
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3
Multiple Cranial Neuropathies and Pachymeningitis in a Patient With a Pathogenic Nucleotide-Binding Oligomerization Domain 2 Polymorphism.
Vegunta S et al.
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2021
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.
Lincoln SE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
34007000 (PubMed )
Supplement: 41436_2021_1187_MOESM2_ESM.xlsx › Table_S9
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