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Unmasking Complex Chromosomal Rearrangement Impacting CHD2 by Genome Sequencing and Optical Genome Mapping in Developmental and Epileptic Encephalopathy-DEE94

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Abstract: Developmental and epileptic encephalopathy (DEE) is extremely heterogeneous and only 30 to 50% of affected individuals receive a diagnosis upon routine genetic diagnostics. We show that genome sequencing, complemented b... ...