| 34525349 | Transitions in lineage specification and gene regulatory networks in hematopoietic stem/progenitor cells over human development. | Cell Reports | 2021 |
| 32242051 | H3K79me2/3 controls enhancer-promoter interactions and activation of the pan-cancer stem cell marker PROM1/CD133 in MLL-AF4 leukemia cells. | Leukemia | 2021 |
| 33416891 | Heterogeneous disease-propagating stem cells in juvenile myelomonocytic leukemia. | Journal of Experimental Medicine | 2021 |
| 32647791 | Rapid Emergence of Chronic Lymphocytic Leukemia During JAK2 Inhibitor Therapy in a Patient With Myelofibrosis. | HemaSphere | 2020 |
| 31383639 | Discovery of a CD10-negative B-progenitor in human fetal life identifies unique ontogeny-related developmental programs. | Blood | 2019 |
| 30765193 | Unravelling Intratumoral Heterogeneity through High-Sensitivity Single-Cell Mutational Analysis and Parallel RNA Sequencing. | Molecular Cell | 2019 |
| 29360107 | Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. | Sci Data | 2018 |
| 29257133 | Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. | Sci Data | 2017 |
| 28341696 | A Low-Frequency Inactivating <i>AKT2</i> Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk. | Diabetes | 2017 |
| 26052927 | The landscape of copy number variations in Finnish families with autism spectrum disorders. | Autism Res | 2016 |
| 27398621 | The genetic architecture of type 2 diabetes. | Nature | 2016 |
| 25625282 | Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus. | PLoS Genet | 2015 |
| 23460800 | Genome-wide copy number variation analysis in extended families and unrelated individuals characterized for musical aptitude and creativity in music. | PLoS One | 2013 |
| 23591402 | The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population. | Eur J Hum Genet | 2013 |
| 23001122 | Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk. | Nat Genet | 2012 |
| 20054297 | Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes. | Nature | 2010 |
| 20164919 | Signatures of mutation and selection in the cancer genome. | Nature | 2010 |
| 19330029 | Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer. | Nat Genet | 2009 |
| 19377476 | A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. | Nat Genet | 2009 |
| 18469813 | X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. | Nat Genet | 2008 |
| 17236139 | Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. | Am J Hum Genet | 2007 |
| 17704778 | Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. | Nat Genet | 2007 |
| 17344846 | Patterns of somatic mutation in human cancer genomes. | Nature | 2007 |
| 17436253 | Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. | Am J Hum Genet | 2007 |
| 17668385 | Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. | Am J Hum Genet | 2007 |
| 17088437 | Mutation analysis of 24 known cancer genes in the NCI-60 cell line set. | Mol Cancer Ther | 2006 |
| 16618716 | A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy. | Cancer Res | 2006 |
| 17186471 | Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. | Am J Hum Genet | 2006 |
| 16175573 | Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults. | Genes Chromosomes Cancer | 2006 |
| 15908952 | A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer. | Nat Genet | 2005 |
| 16140923 | Somatic mutations of the protein kinase gene family in human lung cancer. | Cancer Res | 2005 |