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| 37612512 | The complete sequence of a human Y chromosome. | Nature | 2023 |
| 38076833 | Random forest classifiers trained on simulated data enable accurate short read-based genotyping of structural variants in the alpha globin region at Chr16p13.3. | bioRxiv | 2023 |
| 37612512 | The complete sequence of a human Y chromosome. | Nature | 2023 |
| 38076833 | Random forest classifiers trained on simulated data enable accurate short read-based genotyping of structural variants in the alpha globin region at Chr16p13.3. | bioRxiv | 2023 |
| 35081118 | KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas. | PLoS One | 2022 |
| 35365778 | Long-read mapping to repetitive reference sequences using Winnowmap2. | Nat Methods | 2022 |
| 35357935 | A complete reference genome improves analysis of human genetic variation. | Science | 2022 |
| 35081118 | KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas. | PLoS One | 2022 |
| 35365778 | Long-read mapping to repetitive reference sequences using Winnowmap2. | Nat Methods | 2022 |
| 35357935 | A complete reference genome improves analysis of human genetic variation. | Science | 2022 |
| 32315356 | Admixture mapping identifies genetic regions associated with blood pressure phenotypes in African Americans. | PLoS One | 2020 |
| 32315356 | Admixture mapping identifies genetic regions associated with blood pressure phenotypes in African Americans. | PLoS One | 2020 |
| 32541955 | A robust benchmark for detection of germline large deletions and insertions. | Nat Biotechnol | 2020 |
| 32699374 | Author Correction: A robust benchmark for detection of germline large deletions and insertions. | Nat Biotechnol | 2020 |
| 32724039 | Comparative clinical and genomic analysis of neurofibromatosis type 2-associated cranial and spinal meningiomas. | Sci Rep | 2020 |
| 32699374 | Author Correction: A robust benchmark for detection of germline large deletions and insertions. | Nat Biotechnol | 2020 |
| 32724039 | Comparative clinical and genomic analysis of neurofibromatosis type 2-associated cranial and spinal meningiomas. | Sci Rep | 2020 |
| 32541955 | A robust benchmark for detection of germline large deletions and insertions. | Nat Biotechnol | 2020 |
| 30722027 | Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define premalignant neurofibromatosis type 1-associated atypical neurofibromas. | Neuro Oncol | 2019 |
| 30722027 | Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define premalignant neurofibromatosis type 1-associated atypical neurofibromas. | Neuro Oncol | 2019 |
| 28940304 | The FOXA2 transcription factor is frequently somatically mutated in uterine carcinosarcomas and carcinomas. | Cancer | 2018 |
| 28940304 | The FOXA2 transcription factor is frequently somatically mutated in uterine carcinosarcomas and carcinomas. | Cancer | 2018 |
| 28322272 | Neuroanatomic, epigenetic and genetic differences in monozygotic twins discordant for attention deficit hyperactivity disorder. | Mol Psychiatry | 2018 |
| 29991508 | The Sleep Inbred Panel, a Collection of Inbred <i>Drosophila melanogaster</i> with Extreme Long and Short Sleep Duration. | G3 (Bethesda) | 2018 |
| 29991508 | The Sleep Inbred Panel, a Collection of Inbred <i>Drosophila melanogaster</i> with Extreme Long and Short Sleep Duration. | G3 (Bethesda) | 2018 |
| 28322272 | Neuroanatomic, epigenetic and genetic differences in monozygotic twins discordant for attention deficit hyperactivity disorder. | Mol Psychiatry | 2018 |
| 28068329 | The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas. | Oncogene | 2017 |
| 28485815 | Somatic mutation profiles of clear cell endometrial tumors revealed by whole exome and targeted gene sequencing. | Cancer | 2017 |
| 29240764 | Selection for long and short sleep duration in Drosophila melanogaster reveals the complex genetic network underlying natural variation in sleep. | PLoS Genet | 2017 |
| 28068329 | The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas. | Oncogene | 2017 |
| 28193203 | First insight into the somatic mutation burden of neurofibromatosis type 2-associated grade I and grade II meningiomas: a case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation. | BMC Cancer | 2017 |
| 28167771 | iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations. | Proc Natl Acad Sci U S A | 2017 |
| 28485815 | Somatic mutation profiles of clear cell endometrial tumors revealed by whole exome and targeted gene sequencing. | Cancer | 2017 |
| 28167771 | iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations. | Proc Natl Acad Sci U S A | 2017 |
| 28193203 | First insight into the somatic mutation burden of neurofibromatosis type 2-associated grade I and grade II meningiomas: a case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation. | BMC Cancer | 2017 |
| 29240764 | Selection for long and short sleep duration in Drosophila melanogaster reveals the complex genetic network underlying natural variation in sleep. | PLoS Genet | 2017 |
| 26139325 | Somatic mutational landscape of AML with inv(16) or t(8;21) identifies patterns of clonal evolution in relapse leukemia. | Leukemia | 2016 |
| 27008017 | Variant Calling From Next Generation Sequence Data. | Methods Mol Biol | 2016 |
| 26139325 | Somatic mutational landscape of AML with inv(16) or t(8;21) identifies patterns of clonal evolution in relapse leukemia. | Leukemia | 2016 |
| 27008017 | Variant Calling From Next Generation Sequence Data. | Methods Mol Biol | 2016 |
| 25912689 | The transcription factors Ets1 and Sox10 interact during murine melanocyte development. | Dev Biol | 2015 |
| 25912689 | The transcription factors Ets1 and Sox10 interact during murine melanocyte development. | Dev Biol | 2015 |
| 26220471 | Evaluation of variant detection software for pooled next-generation sequence data. | BMC Bioinformatics | 2015 |
| 26220471 | Evaluation of variant detection software for pooled next-generation sequence data. | BMC Bioinformatics | 2015 |
| 24603370 | Gene-based sequencing identifies lipid-influencing variants with ethnicity-specific effects in African Americans. | PLoS Genet | 2014 |
| 25427824 | Mutational analysis of the tyrosine kinome in serous and clear cell endometrial cancer uncovers rare somatic mutations in TNK2 and DDR1. | BMC Cancer | 2014 |
| 24857694 | An enhancer polymorphism at the cardiomyocyte intercalated disc protein NOS1AP locus is a major regulator of the QT interval. | Am J Hum Genet | 2014 |
| 24603370 | Gene-based sequencing identifies lipid-influencing variants with ethnicity-specific effects in African Americans. | PLoS Genet | 2014 |
| 25427824 | Mutational analysis of the tyrosine kinome in serous and clear cell endometrial cancer uncovers rare somatic mutations in TNK2 and DDR1. | BMC Cancer | 2014 |
| 24857694 | An enhancer polymorphism at the cardiomyocyte intercalated disc protein NOS1AP locus is a major regulator of the QT interval. | Am J Hum Genet | 2014 |