Associated Papers
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Marcogliese PC et al.
Cell Reports, 2022
35294868 (PubMed )
Supplement: NIHMS1789669-supplement-4.xlsx › S3
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Nassir N et al.
Human Genomics, 2021
34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbMS-non_synonymous_ex
Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach.
Kedar PS et al.
International Journal of Hematology, 2019
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