Associated Papers
Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.
Tabassum I et al.
International Journal of Molecular Sciences, 2025
41516090 (PubMed )
Supplement: ijms-27-00206-s001.zip › Supplementary_Table_S2__Tabassum_et_al.xlsx › Table_S2A
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 2021
33717985 (PubMed )
Supplement: mmc1.xlsx › Table_S1
Design of efficacious somatic cell genome editing strategies for recessive and polygenic diseases.
Carlson-Stevermer J et al.
Nature Communications, 2020
33293555 (PubMed )
Supplement: 41467_2020_20065_MOESM1_ESM.pdf
Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.
Gupta N et al.
The Journal of Pediatrics, 2020
Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.
Bali DS et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
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