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PLoS Genetics, ISSN 1553-7390, 06/2018, Volume 14, Issue 6, pp. e1007399 - e1007399
Wilms tumour is a childhood tumour that arises as a consequence of somatic and rare germline mutations, the characterisation of which has refined our... 
OVERGROWTH | PREDISPOSITION | SUSCEPTIBILITY | GENETICS & HEREDITY | GENE-EXPRESSION | KIDNEY DEVELOPMENT | MODEL | BIALLELIC MUTATIONS | CANCER | HETEROZYGOSITY | CHILDRENS ONCOLOGY GROUP | Kidney Neoplasms - genetics | Kidney Neoplasms - epidemiology | Loss of Function Mutation | Prognosis | Kidney - pathology | Wilms Tumor - genetics | Epigenesis, Genetic | Humans | Male | Gene Expression Profiling | Tripartite Motif-Containing Protein 28 - genetics | Urothelium - pathology | Whole Exome Sequencing | Wilms Tumor - pathology | Neoplasm Recurrence, Local - pathology | Young Adult | Wilms Tumor - epidemiology | Germ-Line Mutation | Adult | Female | Kidney Neoplasms - pathology | Neoplasm Recurrence, Local - genetics | Biomarkers, Tumor - genetics | Neoplasm Recurrence, Local - epidemiology | Immunohistochemistry | Epigenetic inheritance | Gene mutations | Genes | Genetic aspects | Gene expression | Tumors | Transcription factors | Oncology, Experimental | Genetic research | Development and progression | Research | Nephroblastoma | Health aspects | Cancer | Medical research | Data analysis | Transcription | Laboratories | Funding | Genomics | Histology | Biochemistry | Genomes | Retention | Carcinogenesis | Heterozygosity | Medicine | Pathology | Loss of heterozygosity | Epigenetics | Software | Mutation | Children | Bioinformatics | Index Medicus
Journal Article
Journal Article
by Di Gioia, Silvio Alessandro and Connors, Samantha and Matsunami, Norisada and Cannavino, Jessica and Rose, Matthew F and Gilette, Nicole M and Artoni, Pietro and De Macena Sobreira, Nara Lygia and Chan, Wai-Man and Webb, Bryn D and Robson, Caroline D and Cheng, Long and Van Ryzin, Carol and Ramirez-Martinez, Andres and Mohassel, Payam and Leppert, Mark and Scholand, Mary Beth and Grunseich, Christopher and Ferreira, Carlos R and Hartman, Tyler and Hayes, Ian M and Morgan, Tim and Markie, David M and Fagiolini, Michela and Swift, Amy and Chines, Peter S and Speck-Martins, Carlos E and Collins, Francis S and Jabs, Ethylin Wang and Bönnemann, Carsten G and Olson, Eric N and Carey, John C and Robertson, Stephen P and Manoli, Irini and Engle, Elizabeth C and Andrews, Caroline V and Barry, Brenda J and Hunter, David G and Mackinnon, Sarah E and Shaaban, Sherin and Erazo, Monica and Frempong, Tamiesha and Hao, Ke and Naidich, Thomas P and Rucker, Janet C and Zhang, Zhongyang and Biesecker, Barbara B and Bonnycastle, Lori L and Brewer, Carmen C and Brooks, Brian P and Butman, John A and Chien, Wade W and Farrell, Kathleen and FitzGibbon, Edmond J and Gropman, Andrea L and Hutchinson, Elizabeth B and Jain, Minal S and King, Kelly A and Lehky, Tanya J and Lee, Janice and Liberton, Denise K and Narisu, Narisu and Paul, Scott M and Sadeghi, Neda and Snow, Joseph and Solomon, Beth and Summers, Angela and Toro, Camilo and Thurm, Audrey and Zalewski, Christopher K and Moebius Syndrome Res Consortium and Moebius Syndrome Research Consortium
Nature Communications, ISSN 2041-1723, 07/2017, Volume 8, Issue 1, p. 16077
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2018, Volume 102, Issue 6, pp. 1115 - 1125
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2017, Volume 101, Issue 1, pp. 139 - 148
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2016, Volume 99, Issue 2, pp. 392 - 406
Journal Article
Cell Reports, ISSN 2211-1247, 12/2018, Volume 25, Issue 10, pp. 2729 - 2741.e6
The mammalian neocortex has undergone remarkable changes through evolution. A consequence of such rapid evolutionary events could be a trade-off that has... 
evolution | MyoGEF | cortical development | periventricular heterotopia | RhoA | PLEKHG6 | NEURAL PROGENITORS | NEOCORTEX | RADIAL GLIAL-CELLS | PERIVENTRICULAR NODULAR HETEROTOPIA | OUTER SUBVENTRICULAR ZONE | MOUSE | FRAMEWORK | GENERATION | MUTATIONS | CEREBRAL-CORTEX | CELL BIOLOGY
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 04/2015, Volume 96, Issue 4, pp. 623 - 630
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 04/2015, Volume 96, Issue 4, p. 623
  Robinow syndrome (RS) is a phenotypically and genetically heterogeneous condition that can be caused by mutations in genes encoding components of the... 
Genotype & phenotype | Signal transduction | Genetic disorders | Protein folding | Mutation | Biological assays
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, pp. 837 - 847
Journal Article