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| 38057443 | Inferring compound heterozygosity from large-scale exome sequencing data. | Nat Genet | 2024 |
| 38057664 | A genomic mutational constraint map using variation in 76,156 human genomes. | Nature | 2024 |
| 37463579 | Phenotype and genetic analysis of data collected within the first year of NeuroDev. | Neuron | 2023 |
| 37595579 | Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies. | Am J Hum Genet | 2023 |
| 37652022 | The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings. | Am J Hum Genet | 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 |
| 37873196 | Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. | medRxiv | 2023 |
| 37085594 | Single-cell genomics meets human genetics. | Nat Rev Genet | 2023 |
| 37463579 | Phenotype and genetic analysis of data collected within the first year of NeuroDev. | Neuron | 2023 |
| 36945502 | Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data. | medRxiv | 2023 |
| 37253541 | Discordant calls across genotype discovery approaches elucidate variants with systematic errors. | Genome Res | 2023 |
| 37377076 | The moral and practical urgency of increasing diversity in genomics. | Eur Heart J | 2023 |
| 36993580 | Inferring compound heterozygosity from large-scale exome sequencing data. | bioRxiv | 2023 |
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| 37595579 | Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies. | Am J Hum Genet | 2023 |
| 37652022 | The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings. | Am J Hum Genet | 2023 |
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| 37085594 | Single-cell genomics meets human genetics. | Nat Rev Genet | 2023 |
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| 36945502 | Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data. | medRxiv | 2023 |
| 37377076 | The moral and practical urgency of increasing diversity in genomics. | Eur Heart J | 2023 |
| 34740920 | Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program. | J Med Genet | 2022 |
| 35922509 | Transcriptome variation in human tissues revealed by long-read sequencing. | Nature | 2022 |
| 36459978 | A minimal role for synonymous variation in human disease. | Am J Hum Genet | 2022 |
| 34740920 | Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program. | J Med Genet | 2022 |
| 35266241 | seqr: A web-based analysis and collaboration tool for rare disease genomics. | Hum Mutat | 2022 |
| 35074858 | Mitochondrial DNA variation across 56,434 individuals in gnomAD. | Genome Res | 2022 |
| 35176222 | Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation. | Cell Stem Cell | 2022 |
| 36459978 | A minimal role for synonymous variation in human disease. | Am J Hum Genet | 2022 |
| 35922509 | Transcriptome variation in human tissues revealed by long-read sequencing. | Nature | 2022 |
| 35074858 | Mitochondrial DNA variation across 56,434 individuals in gnomAD. | Genome Res | 2022 |
| 35176222 | Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation. | Cell Stem Cell | 2022 |
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| 32862205 | Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy. | Eur J Hum Genet | 2021 |
| 33536627 | Author Correction: A structural variation reference for medical and population genetics. | Nature | 2021 |
| 33536628 | Author Correction: Evaluating drug targets through human loss-of-function genetic variation. | Nature | 2021 |
| 33536625 | Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans. | Nature | 2021 |
| 33473207 | Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. | Genet Med | 2021 |
| 34054129 | Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies. | Genet Med | 2021 |
| 34108472 | Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. | Nat Commun | 2021 |
| 33977140 | WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine Kinase. | Neurol Genet | 2021 |
| 33649541 | Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. | Eur J Hum Genet | 2021 |
| 32862205 | Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy. | Eur J Hum Genet | 2021 |
| 34568833 | <i>ZBTB33</i> is mutated in clonal hematopoiesis and myelodysplastic syndromes and impacts RNA splicing. | Blood Cancer Discov | 2021 |
| 34554789 | From variant to function in human disease genetics. | Science | 2021 |
| 34373650 | Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans. | Nature | 2021 |
| 33649541 | Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. | Eur J Hum Genet | 2021 |