Multi-omic approach identifies a novel non-coding deletion at Xq28 in a patient with X-linked primary immunodeficiency.
Application of RNA sequencing on transdifferentiated patient fibroblasts for genetic diagnosis of neurological disorders
The Multiple de novo Copy Number Variant (MdnCNV) phenomenon: peri-zygotic DNA mutational signatures and multilocus pathogenic variations
TCEAL1 loss-of-function results in an X-linked dominant neurological syndrome and drives the neurological disease trait in Xq22.2 deletion
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder with intellectual disability and variable marfanoid habitus
Saturation genome editing reveals 10% of missense SNV alleles in functional domains of PALB2 as functionally abnormal
Monoallelic variation in the DExH-box helicase DHX9, a product of the DHX9 gene paralog, perturbs neurodevelopment & causes peripheral nerve axon degeneration
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