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Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development.
Hum Genet. 2023 Aug;142(8):1201-1213. doi: 10.1007/s00439-022-02482-5. Epub 2022 Nov 16.
Hum Genet. 2023.
PMID: 36383254
Free PMC article.
Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genome.
Begum G, Albanna A, Bankapur A, Nassir N, Tambi R, Berdiev BK, Akter H, Karuvantevida N, Kellam B, Alhashmi D, Sung WWL, Thiruvahindrapuram B, Alsheikh-Ali A, Scherer SW, Uddin M.
Begum G, et al.
Int J Mol Sci. 2021 Feb 19;22(4):2060. doi: 10.3390/ijms22042060.
Int J Mol Sci. 2021.
PMID: 33669700
Free PMC article.
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