|
| 36967109 | Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies. | Mol Genet Genomic Med | 2023 |
| 35192731 | PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network. | Hum Mutat | 2022 |
| 36123428 | Implementing precision medicine in a regionally organized healthcare system in Sweden. | Nat Med | 2022 |
| 32827528 | Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain. | J Pediatr | 2021 |
| 33875766 | High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses. | J Hum Genet | 2021 |
| 33732874 | Novel Mutation m.10372A>G in <i>MT-ND3</i> Causing Sensorimotor Axonal Polyneuropathy. | Neurol Genet | 2021 |
| 33502047 | Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7. | Hum Mutat | 2021 |
| 33726816 | Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients. | Genome Med | 2021 |
| 32611382 | Loqusdb: added value of an observations database of local genomic variation. | BMC Bioinformatics | 2020 |
| 32964447 | Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study. | Epilepsia | 2020 |
| 32754646 | <i>SLC12A2</i> mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia. | Neurol Genet | 2020 |
| 30827875 | SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation. | Stem Cell Reports | 2019 |
| 31694722 | From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability. | Genome Med | 2019 |
| 30217939 | Chorea, psychosis, acanthocytosis, and prolonged survival associated with <i>ELAC2</i> mutations. | Neurology | 2018 |
| 28427446 | Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model. | Orphanet J Rare Dis | 2017 |
| 26975589 | Biotin and Thiamine Responsive Basal Ganglia Disease--A vital differential diagnosis in infants with severe encephalopathy. | Eur J Paediatr Neurol | 2016 |
| 26250718 | Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders. | J Intern Med | 2016 |
| 27545679 | Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy. | Am J Hum Genet | 2016 |
| 26084283 | Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid. | J Med Genet | 2015 |
| 26333769 | Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. | Nat Commun | 2015 |
| 26522469 | Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26. | Am J Hum Genet | 2015 |
| 24667040 | An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. | Genome Biol | 2014 |
| 25495354 | Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism. | BMC Genomics | 2014 |
| 22887891 | Stepping stones in DNA sequencing. | Biotechnol J | 2012 |
| 23029519 | Gene expression profiles in paired gingival biopsies from periodontitis-affected and healthy tissues revealed by massively parallel sequencing. | PLoS One | 2012 |
| 23110385 | Comparison of total and cytoplasmic mRNA reveals global regulation by nuclear retention and miRNAs. | BMC Genomics | 2012 |
| 20944651 | Sun-induced nonsynonymous p53 mutations are extensively accumulated and tolerated in normal appearing human skin. | J Invest Dermatol | 2011 |
| 21760920 | Scalable transcriptome preparation for massive parallel sequencing. | PLoS One | 2011 |
| 20386591 | Increased throughput by parallelization of library preparation for massive sequencing. | PLoS One | 2010 |
| 20472541 | Classification of DNA sequences using Bloom filters. | Bioinformatics | 2010 |
| 19636381 | Inheritance of acquired behaviour adaptations and brain gene expression in chickens. | PLoS One | 2009 |
| 19930641 | A comparison between protein profiles of B cell subpopulations and mantle cell lymphoma cells. | Proteome Sci | 2009 |