Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
PMID:33083013
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
PMID:32979048
Workflow for the Implementation of Precision Genomics in Healthcare.
PMID:32695137
How will next generation sequencing (NGS) improve the diagnosis of congenital hemolytic anemia?
PMID:32355712
Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome.
PMID:32256298
Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.
PMID:32023956
The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci.
PMID:31920912
Novel clinical and genetic insight into CXorf56-associated intellectual disability.
PMID:31822863
Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test.
PMID:31635081
Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice.
PMID:31363758
Clinical research challenges in rare genetic diseases in Brazil.
PMID:31170279
Exploiting machine learning for end-to-end drug discovery and development.
PMID:31000803
A Novel De Novo Frameshift Mutation in KAT6A Identified by Whole Exome Sequencing.
PMID:30775047
Patient reported outcome measures in rare diseases: a narrative review.
PMID:29688860
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.
PMID:29449720
Applying Precision Public Health to Prevent Preterm Birth.
PMID:28421178