|
| 36739343 | Interpreting variants in genes affected by clonal hematopoiesis in population data. | Hum Genet | 2024 |
| 38057664 | A genomic mutational constraint map using variation in 76,156 human genomes. | Nature | 2024 |
| 38057443 | Inferring compound heterozygosity from large-scale exome sequencing data. | Nat Genet | 2024 |
| 36739343 | Interpreting variants in genes affected by clonal hematopoiesis in population data. | Hum Genet | 2024 |
| 38057664 | A genomic mutational constraint map using variation in 76,156 human genomes. | Nature | 2024 |
| 38057443 | Inferring compound heterozygosity from large-scale exome sequencing data. | Nat Genet | 2024 |
| 36799992 | Variants in DTNA cause a mild, dominantly inherited muscular dystrophy. | Acta Neuropathol | 2023 |
| 37595579 | Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies. | Am J Hum Genet | 2023 |
| 37662408 | Identification of a <i>de novo</i> mutation in <i>TLK1</i> associated with a neurodevelopmental disorder and immunodeficiency. | medRxiv | 2023 |
| 37808847 | Heterozygous loss-of-function <i>SMC3</i> variants are associated with variable and incompletely penetrant growth and developmental features. | medRxiv | 2023 |
| 37633279 | Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data. | Am J Hum Genet | 2023 |
| 37701331 | Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman. | JIMD Rep | 2023 |
| 37873196 | Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. | medRxiv | 2023 |
| 36778464 | A panel-agnostic strategy 'HiPPo' improves diagnostic efficiency in the UK Genome Medicine Service. | medRxiv | 2023 |
| 37090938 | Transcriptome and Genome Analysis Uncovers a <i>DMD</i> Structural Variant: A Case Report. | Neurol Genet | 2023 |
| 37034593 | Advancing Understanding of Inequities in Rare Disease Genomics. | medRxiv | 2023 |
| 36713248 | Beyond the exome: what's next in diagnostic testing for Mendelian conditions. | ArXiv | 2023 |
| 37463579 | Phenotype and genetic analysis of data collected within the first year of NeuroDev. | Neuron | 2023 |
| 37205493 | Rare penetrant mutations confer severe risk of common diseases. | medRxiv | 2023 |
| 37013830 | National Human Genome Research Institute Genomic Data Science Analysis, Visualization, and Informatics Lab-Space: Reaching out to Clinicians. | Circ Genom Precis Med | 2023 |
| 37262156 | The landscape of tolerated genetic variation in humans and primates. | Science | 2023 |
| 37262146 | Rare penetrant mutations confer severe risk of common diseases. | Science | 2023 |
| 36945502 | Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data. | medRxiv | 2023 |
| 37057675 | LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. | Genet Med | 2023 |
| 36799992 | Variants in DTNA cause a mild, dominantly inherited muscular dystrophy. | Acta Neuropathol | 2023 |
| 36993580 | Inferring compound heterozygosity from large-scale exome sequencing data. | bioRxiv | 2023 |
| 36724785 | Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly. | Am J Hum Genet | 2023 |
| 37541186 | Beyond the exome: What's next in diagnostic testing for Mendelian conditions. | Am J Hum Genet | 2023 |
| 37517917 | Advancing Understanding of Inequities in Rare Disease Genomics. | Clin Ther | 2023 |
| 37034709 | Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy. | medRxiv | 2023 |
| 37633279 | Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data. | Am J Hum Genet | 2023 |
| 37595579 | Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies. | Am J Hum Genet | 2023 |
| 37662408 | Identification of a <i>de novo</i> mutation in <i>TLK1</i> associated with a neurodevelopmental disorder and immunodeficiency. | medRxiv | 2023 |
| 37517917 | Advancing Understanding of Inequities in Rare Disease Genomics. | Clin Ther | 2023 |
| 37701331 | Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman. | JIMD Rep | 2023 |
| 37541186 | Beyond the exome: What's next in diagnostic testing for Mendelian conditions. | Am J Hum Genet | 2023 |
| 37873196 | Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. | medRxiv | 2023 |
| 37808847 | Heterozygous loss-of-function <i>SMC3</i> variants are associated with variable and incompletely penetrant growth and developmental features. | medRxiv | 2023 |
| 36993580 | Inferring compound heterozygosity from large-scale exome sequencing data. | bioRxiv | 2023 |
| 37057675 | LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. | Genet Med | 2023 |
| 36945502 | Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data. | medRxiv | 2023 |
| 37013830 | National Human Genome Research Institute Genomic Data Science Analysis, Visualization, and Informatics Lab-Space: Reaching out to Clinicians. | Circ Genom Precis Med | 2023 |
| 37205493 | Rare penetrant mutations confer severe risk of common diseases. | medRxiv | 2023 |
| 37463579 | Phenotype and genetic analysis of data collected within the first year of NeuroDev. | Neuron | 2023 |
| 37034709 | Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy. | medRxiv | 2023 |
| 37034593 | Advancing Understanding of Inequities in Rare Disease Genomics. | medRxiv | 2023 |
| 37262156 | The landscape of tolerated genetic variation in humans and primates. | Science | 2023 |
| 37262146 | Rare penetrant mutations confer severe risk of common diseases. | Science | 2023 |
| 37090938 | Transcriptome and Genome Analysis Uncovers a <i>DMD</i> Structural Variant: A Case Report. | Neurol Genet | 2023 |
| 36724785 | Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly. | Am J Hum Genet | 2023 |