24748105Mirzaa GM, Vitre B, Carpenter G, Abramowicz I, Gleeson JG, Paciorkowski AR, Cleveland DW, Dobyns WB, O'Driscoll MHuman geneticsCentromere; Centrosome; Chromosomal Proteins, Non-Histone; Dwarfism; Fetal Growth Retardation; Kinetochores; Microcephaly; Mutation; OsteochondrodysplasiasAdult; Amino Acid Sequence; Cell Cycle; Cells, Cultured; Child; Child, Preschool; Chromosome Segregation; Developmental Disabilities; Female; Humans; Lymphocytes; Male; Mitosis; Molecular Sequence Data; Phosphorylation; Protein Serine-Threonine Kinases; Sequence Homology, Amino AcidMutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. Hum Genet. 2014 Aug; 133(8):1023-39.Hum Genet2014-04-20T00:00:002014Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.prns:fullNamefull nameprns:hasAuthorListauthor listprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:hasSubjectAreaMajorTopicListhas major subject area listprns:hasSubjectAreaMinorTopicListhas minor subject area listprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns:latitudelatitudeprns:longitudelongitudeprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns:minWeightminimum weightprns:numberOfAuthorsnumber of authorsprns:numberOfConnectionsnumber of connectionsprns:numberOfPublicationsnumber of publicationsprns:personIdPerson IDprns:personInPrimaryPositionperson in primary positionprns:positionInDepartmentposition in departmentprns:predicateNodepredicate nodeprns:publicationDatepublication dateprns:sortOrdersort orderprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed Identifiervivo:authorRankauthor rank in publicationAuthorshipDepartmentvivo:hasSubjectAreahas subject areavivo:hrJobTitleHR job titleInformation Resourcevivo:informationResourceInAuthorshipauthorsvivo:linkedAuthorlinked authorvivo:linkedInformationResourcelinked information resourcePositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titlerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPersonD000595Genes & Molecular Sequences43920620.7368Amino Acid SequenceD000328Living Beings1578255770.254432AdultD002648Living Beings93969130.440034ChildD002503Anatomy21260.993685CentromereD002658Disorders631940.865811Developmental DisabilitiesD002453Physiology1905020.841822Cell CycleD002868Chemicals & Drugs38580.944761Chromosomal Proteins, Non-HistoneD002675Living Beings65236080.594942Child, PreschoolD004392Disorders12160.990762DwarfismD005317Disorders32660.953918Fetal Growth RetardationD008831Disorders19750.955447MicrocephalyD008938Concepts & IdeasPhysiology891510.939621MitosisD008969Concepts & IdeasGenes & Molecular Sequences56030290.690324Molecular Sequence DataD009154Physiology70239520.442648MutationD010009Disorders7110.988069OsteochondrodysplasiasD010766Phenomena34811010.802856PhosphorylationD005260Physiology1992444050.191167FemaleD006801Living Beings2262862810.130052HumansD017386Concepts & IdeasGenes & Molecular Sequences1834160.921853Sequence Homology, Amino AcidWilliamDobynsWilliam B. Dobyns0.000000000000000.000000000000002964Dobyns, WilliamPROFESSOR D008297Physiology1931408600.201617MaleD018386Anatomy770.994932KinetochoresD020090Physiology22320.982667Chromosome SegregationD018385Anatomy15220.988057CentrosomeD002478Anatomy60328100.667881Cells, CulturedD008214Anatomy1994610.840068LymphocytesHuman GeneticsUniversity of Chicagotrue1PROFESSOR PROFESSOR Authorship 7926680.1255350.1255351authors10.2525has subject area