NEPRO

Publications

Hashimoto M et al. Nepro is localized in the nucleolus and essential for preimplantation development in mice. Dev Growth Differ. 2015;57(7):529-38. PMID: 26178919.

Narayanan DL et al. An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO. Am J Med Genet. 2019; 179(9):1709-1717. PMID: 31250547.

Maddirevula S et al. Expanding the phenome and variome of skeletal dysplasia. Genet Med. 2018;20(12):1609-1616. PMID: 29620724.

Shaheen R et al. Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort. Genet Med. 2016;18(7):686-95. PMID: 26633546.

Wang T et al. Identification and characterization of essential genes in the human genome. Science. 2015;350(6264):1096-101. PMID: 26472758; PMCID: PMC4662922.