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Author Details

Gemma Buck
2005
31
25
PMIDPaper TitleJournal TitlePublished Year
34525349Transitions in lineage specification and gene regulatory networks in hematopoietic stem/progenitor cells over human development.Cell Reports2021
32242051H3K79me2/3 controls enhancer-promoter interactions and activation of the pan-cancer stem cell marker PROM1/CD133 in MLL-AF4 leukemia cells.Leukemia2021
33416891Heterogeneous disease-propagating stem cells in juvenile myelomonocytic leukemia.Journal of Experimental Medicine2021
32647791Rapid Emergence of Chronic Lymphocytic Leukemia During JAK2 Inhibitor Therapy in a Patient With Myelofibrosis.HemaSphere2020
31383639Discovery of a CD10-negative B-progenitor in human fetal life identifies unique ontogeny-related developmental programs.Blood2019
30765193Unravelling Intratumoral Heterogeneity through High-Sensitivity Single-Cell Mutational Analysis and Parallel RNA Sequencing.Molecular Cell2019
29360107Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.Sci Data2018
29257133Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.Sci Data2017
28341696A Low-Frequency Inactivating <i>AKT2</i> Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk.Diabetes2017
26052927The landscape of copy number variations in Finnish families with autism spectrum disorders.Autism Res2016
27398621The genetic architecture of type 2 diabetes.Nature2016
25625282Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.PLoS Genet2015
23460800Genome-wide copy number variation analysis in extended families and unrelated individuals characterized for musical aptitude and creativity in music.PLoS One2013
23591402The 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 Genet2013
23001122Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk.Nat Genet2012
20054297Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.Nature2010
20164919Signatures of mutation and selection in the cancer genome.Nature2010
19330029Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.Nat Genet2009
19377476A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.Nat Genet2009
18469813X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.Nat Genet2008
17236139Mutations 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 Genet2007
17704778Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.Nat Genet2007
17344846Patterns of somatic mutation in human cancer genomes.Nature2007
17436253Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.Am J Hum Genet2007
17668385Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.Am J Hum Genet2007
17088437Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.Mol Cancer Ther2006
16618716A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy.Cancer Res2006
17186471Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation.Am J Hum Genet2006
16175573Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults.Genes Chromosomes Cancer2006
15908952A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer.Nat Genet2005
16140923Somatic mutations of the protein kinase gene family in human lung cancer.Cancer Res2005
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Co-authored papers 16
The University of Texas MD Anderson Cancer Center
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Wellcome Sanger Institute
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Clinical Research Facility, Mercy University Hospital
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Wellcome Sanger Institute
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Murdoch Children's Research Institute, Royal Children's Hospital
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Wellcome Sanger Institute
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Wellcome Sanger Institute
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Wellcome Sanger Institute
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Wellcome Sanger Institute
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Inivata Ltd
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Wellcome Trust Sanger Institute
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University of East Anglia
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University of Cambridge
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European Bioinformatics Institute
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University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
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BGI Hong Kong Tech Co Ltd.
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Vanderbilt University Medical Center
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