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SCYL1 disease and liver transplantation diagnosed by reanalysis of exome sequencing and deletion/duplication analysis ofSCYL1 Journal Articles - A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy Journal Articles
- Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling Journal Articles
- Assessing non-Mendelian inheritance in inherited axonopathies Journal Articles
- Biallelic variants inWARS2encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy Journal Articles
- Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data Journal Articles
- Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories Journal Articles
- Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders Journal Articles
- Cost-effectiveness of Genome and Exome Sequencing in Children Diagnosed with Autism Spectrum Disorder Conferences
- De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy Journal Articles
- Dual molecular diagnoses in a neurometabolic specialty clinic Journal Articles
- Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study Journal Articles
- Exome sequencing of Saudi Arabian patients with ADPKD Journal Articles
- Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer Journal Articles
- GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia Journal Articles
- Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies Journal Articles
- IDH1 R132C and ERC2 L309I Mutations Contribute to the Development of Maffucci’s Syndrome Journal Articles
- Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations Journal Articles
- MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis Journal Articles
- Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies Journal Articles
- Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing Journal Articles
- Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction Journal Articles
- The DNA methylation landscape of advanced prostate cancer Journal Articles
- Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia Journal Articles
- Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon Journal Articles
- Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families Journal Articles