Genome reference impacts RNA-seq interpretation and rare disease diagnosis Read more about Genome reference impacts RNA-seq interpretation and rare disease diagnosis
Multi-omic approach identifies a novel non-coding deletion at Xq28 in a patient with X-linked primary immunodeficiency. Read more about Multi-omic approach identifies a novel non-coding deletion at Xq28 in a patient with X-linked primary immunodeficiency.
Exome technology innovations advancing personalized medicine Read more about Exome technology innovations advancing personalized medicine
Application of RNA sequencing on transdifferentiated patient fibroblasts for genetic diagnosis of neurological disorders Read more about 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 Read more about 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 Read more about 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 Read more about 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 Read more about 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 Read more about Monoallelic variation in the DExH-box helicase DHX9, a product of the DHX9 gene paralog, perturbs neurodevelopment & causes peripheral nerve axon degeneration
Large-scale multimodal genomic analyses of 150 consanguineous kindreds from the Middle East and North Africa uncover novel neurodevelopmental disease mechanisms Read more about Large-scale multimodal genomic analyses of 150 consanguineous kindreds from the Middle East and North Africa uncover novel neurodevelopmental disease mechanisms
