Search Results - "Kosaji, Noor"
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Expanding deep phenotypic spectrum associated with atypical pathogenic structural variations overlapping 15q11–q13 imprinting region
Published in Brain and behavior (01-04-2024)“…Background The 15q11–q13 region is a genetic locus with genes subject to genomic imprinting, significantly influencing neurodevelopment. Genomic imprinting is…”
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Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development
Published in Human genetics (01-08-2023)“…Neurodevelopmental disorders (NDDs) and congenital anomalies (CAs) are rare disorders with complex etiology. In this study, we investigated the less understood…”
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Lack of ethnic diversity in single-cell transcriptomics hinders cell type detection and precision medicine inclusivity
Published in Med (New York, N.Y. : Online) (14-04-2023)“…Perhaps one of the most revolutionary next generation sequencing technologies is single-cell (SC) transcriptomics, which was recognized by Nature in 2013 as…”
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