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
ITGB8 is a candidate disease gene for autosomal dominant and recessive trait forms of muscular dystrophy and neurological disease Read more about ITGB8 is a candidate disease gene for autosomal dominant and recessive trait forms of muscular dystrophy and neurological disease
Integrating Genomic and Phenotypic Analyses of Autonomic Nervous System Dysfunction in a Rare Neurological Disease Cohort Read more about Integrating Genomic and Phenotypic Analyses of Autonomic Nervous System Dysfunction in a Rare Neurological Disease Cohort
Genome-wide investigation of potentially pathogenic copy number variants & mechanisms fomenting their origins Read more about Genome-wide investigation of potentially pathogenic copy number variants & mechanisms fomenting their origins
FOXI3 pathogenic variants cause one form of craniofacial microsomia Read more about FOXI3 pathogenic variants cause one form of craniofacial microsomia
Deleterious SNAPC4 Variants are Associated with a Neurodevelopmental Disorder Read more about Deleterious SNAPC4 Variants are Associated with a Neurodevelopmental Disorder