{ "items": [ "\n\n
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\n Sequence data and association statistics from 12,940 type 2 diabetes cases and controls\n

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Jason F. et al, (2017), Scientific Data, 4, 170179 - 170179

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\n Mature Analysis of the Prospective Oxford Down Syndrome (DS) Cohort Study: Timing and Clinical Impact of Preleukemic GATA1 Mutations and Lessons for Management of Newborns with DS\n

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Roberts I. et al, (2017), BLOOD, 130

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\n Molecular and Functional Characterization of Disease-Propagating Stem Cells in Juvenile Myelomonocytic Leukemia\n

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Louka E. et al, (2017), BLOOD, 130

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\n A Low-Frequency Inactivating\n AKT2\n Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk\n

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Manning A. et al, (2017), Diabetes, 66, 2019 - 2032

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\n COMBINATION OF DEEP PHENOTYPING AND TARGETED NEXT GENERATION SEQUENCING AS A DIAGNOSTIC TOOL IN CHILDREN WITH SUSPECTED MDS\n

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Louka E. et al, (2017), HAEMATOLOGICA, 102, 265 - 265

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\n RE-ORDERING THE B CELL DEVELOPMENT HIERARCHY IN HUMAN FETAL BONE MARROW: CHARACTERISATION OF A NOVEL HUMAN FETAL B PROGENITOR\n

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O'Byrne S. et al, (2017), HAEMATOLOGICA, 102, 80 - 80

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\n The genetic architecture of type 2 diabetes\n

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Fuchsberger C. et al, (2016), Nature, 536, 41 - 47

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\n The landscape of copy number variations in Finnish families with autism spectrum disorders\n

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Kanduri C. et al, (2016), Autism Research, 9, 9 - 16

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\n Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus\n

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Mahajan A. et al, (2015), PLOS Genetics, 11, e1004876 - e1004876

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\n The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population\n

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Kanduri C. et al, (2013), European Journal of Human Genetics, 21, 1411 - 1416

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\n The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population\n

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Kanduri C. et al, (2013), European Journal of Human Genetics, 21, 1411 - 1416

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\n Genome-Wide Copy Number Variation Analysis in Extended Families and Unrelated Individuals Characterized for Musical Aptitude and Creativity in Music\n

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Ukkola-Vuoti L. et al, (2013), PLoS ONE, 8, e56356 - e56356

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\n Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk\n

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Orr N. et al, (2012), Nature Genetics, 44, 1182 - 1184

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\n Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk\n

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Orr N. et al, (2012), Nature Genetics, 44, 1182 - 1184

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\n Signatures of mutation and selection in the cancer genome.\n

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Bignell GR. et al, (2010), Nature, 463, 893 - 898

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\n Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.\n

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Dalgliesh GL. et al, (2010), Nature, 463, 360 - 363

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\n A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.\n

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Tarpey PS. et al, (2009), Nature genetics, 41, 535 - 543

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\n Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.\n

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van Haaften G. et al, (2009), Nature genetics, 41, 521 - 523

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\n X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.\n

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Dibbens LM. et al, (2008), Nature genetics, 40, 776 - 781

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\n Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation\n

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Tarpey PS. et al, (2007), Nature Genetics, 39, 1127 - 1133

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