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Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2021
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disordersAida M Bertoli-Avella, Krishna K Kandaswamy, Suliman Khan, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 15, 2020
The morbid genome of ciliopathies: an updateHanan E Shamseldin, Ranad Shaheen, Nour Ewida, et al.Med (New York, N.Y.)|November 6, 2024
Arab founder variants: Contributions to clinical genomics and precision medicineLama AlAbdi, Sateesh Maddirevula, Bayan Aljamal, et al.Human Mutation|November 19, 2011
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesisOlivier Gribouval, Vincent Morinière, Audrey Pawtowski, et al.Journal of Human Immunity|June 1, 2026
Human germline biallelic loss-of-function OSMR variants cause severe allergic diseaseSimran Samra, Mehul Sharma, Julia Körholz, et al.Pageof 5