Associated Papers
Evaluation of Genetic Testing in a Cohort of Diverse Pediatric Patients in the United States with Congenital Cataracts.
Rossen JL et al.
Genes, 2023
36980880 (PubMed )
Supplement: genes-14-00608-s001.zip › genes-2190704-supplementary.pdf
Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.
Tran Mau-Them F et al.
Frontiers in Genetics, 2023
Two novel heterozygous truncating variants in NR4A2 identified in patients with neurodevelopmental disorder and brief literature review.
Song X et al.
Frontiers in Neuroscience, 2022
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.
Singh S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Copy number signatures and mutational processes in ovarian carcinoma.
Macintyre G et al.
Nature Genetics, 2018
30104763 (PubMed )
Supplement: NIHMS78219-supplement-3.xlsx › mutated_cases
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