Genome Sequencing Program

Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep dlvr.it/T16j46

Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7) dlvr.it/T15DbV

Lack of association between HLA and asymptomatic SARS-CoV-2 infection dlvr.it/T13zWj

Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile dlvr.it/T0zZrf

Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort dlvr.it/T0zBcV

HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data dlvr.it/T0j8HX

LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility dlvr.it/T0DrKY

De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex dlvr.it/T02N65

Anxiety and dysautonomia symptoms in patients with a NaV1.7 mutation and the potential benefits of low-dose short-acting guanfacine dlvr.it/Sztgmc

Inferring compound heterozygosity from large-scale exome sequencing data dlvr.it/SzpmnJ

Characterization of CYP2C19 pharmacogenetic variation in African populations and comparison with other global populations dlvr.it/Sznnfz

Accurate and efficient estimation of local heritability using summary statistics and the linkage disequilibrium matrix dlvr.it/Szhwfr

SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome dlvr.it/SzcgBx

Improved sequence mapping using a complete reference genome and lift-over dlvr.it/SzYS3w

Identification of Neurotransmission and Synaptic Biological Processes Disrupted in Autism Spectrum Disorder Using Interaction Networks and Community Detection Analysis dlvr.it/SzTfhN

Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites dlvr.it/SzTfh1

Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency dlvr.it/SzTfd7

Association of genetic and sulcal traits with executive function in congenital heart disease dlvr.it/SzN3cT

Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder dlvr.it/SzLGfR

Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations dlvr.it/Sz78Ml