Associated Papers
Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management.
Nakhleh Francis Y et al.
Genetics in Medicine Open, 2023
39669259 (PubMed )
Supplement: mmc1.xlsx › ______1
Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders.
Brea-Fernández A et al.
American Journal of Medical Genetics. Part A, 2019
KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup).
Hamaguchi Y et al.
Human Genome Variation, 2019
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Grozeva D et al.
Human Mutation, 2015
26350204 (PubMed )
Supplement: HUMU-36-1197-s001.pdf
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