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Nature Genetics, ISSN 1061-4036, 09/2011, Volume 43, Issue 9, pp. 879 - 882
Journal Article
Journal Article
Journal Article
Nature, ISSN 0028-0836, 01/2013, Volume 493, Issue 7432, pp. 406 - 410
Journal Article
Nature Genetics, ISSN 1061-4036, 07/2017, Volume 49, Issue 7, pp. 1148 - 1151
Through exome sequencing, we identified six individuals with biallelic loss-of-function mutations in TRIP13. All six developed Wilms tumor. Constitutional... 
Developmental Disabilities | M Phase Cell Cycle Checkpoints | Sertoli-Leydig Cell Tumor | Humans | Protein-Serine-Threonine Kinases | Child, Preschool | Aneuploidy | Neoplasms, Multiple Primary | Leukemia, Myeloid, Acute | Microcephaly | Journal Article | DNA, Neoplasm | Female | Ovarian Neoplasms | Carrier Proteins | Seizures | Kidney Neoplasms | ATPases Associated with Diverse Cellular Activities | Chromosome Segregation | Genetic Predisposition to Disease | Microtubule-Associated Proteins | RNA Stability | Nuclear Proteins | Mosaicism | Wilms Tumor | Mutation | Cell Cycle Proteins | CELLS | INSTABILITY | PROTEIN | GENETICS & HEREDITY | AAA-ATPASE | MITOTIC CHECKPOINT | MOSAIC VARIEGATED ANEUPLOIDY | Kidney Neoplasms - genetics | Microcephaly - genetics | Seizures - genetics | Microtubule-Associated Proteins - genetics | Wilms Tumor - genetics | M Phase Cell Cycle Checkpoints - genetics | Developmental Disabilities - genetics | Ovarian Neoplasms - genetics | Cell Cycle Proteins - genetics | Nuclear Proteins - genetics | Neoplasms, Multiple Primary - genetics | Sertoli-Leydig Cell Tumor - genetics | Protein-Serine-Threonine Kinases - genetics | RNA Stability - genetics | Carrier Proteins - genetics | DNA, Neoplasm - genetics | Chromosome Segregation - genetics | Leukemia, Myeloid, Acute - genetics | Sequences | Pipelines | Genes | Impairment | Cell division | Genomes | Carcinogenesis | Proteins | Carcinogens | Microencephaly | Chromosomes | Cancer | Tumors | Index Medicus
Journal Article
Scientific Reports, ISSN 2045-2322, 08/2016, Volume 6, Issue 1, p. 31029
We present an easy-to-use, open-source Optimised Exome analysis tool, OpEx (http://icr.ac.uk/opex) that accurately detects small-scale variation, including... 
VARIANTS | ANNOTATION | MULTIDISCIPLINARY SCIENCES | Datasets | Bioinformatics
Journal Article
Journal Article
Journal Article