29096607Thiffault I, Zuccarelli B, Welsh H, Yuan X, Farrow E, Zellmer L, Miller N, Soden S, Abdelmoity A, Brodsky RA, Saunders CBMC medical geneticsAbnormalities, Multiple; Developmental Disabilities; Genetic Predisposition to Disease; Muscle Hypotonia; Mutation; PhosphotransferasesChild, Preschool; DNA Mutational Analysis; Epilepsies, Partial; Exome; Humans; MaleThiffault I, Zuccarelli B, Welsh H, Yuan X, Farrow E, Zellmer L, Miller N, Soden S, Abdelmoity A, Brodsky RA, Saunders C. Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease. BMC Med Genet. 2017 11 02; 18(1):124.BMC Med Genet2017-11-02T00:00:002017Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.cmhprofilesont:personsuffixperson suffixprns: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:mainImagephotoprns: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:positionInDivisionposition in divisionprns:predicateNodepredicate nodeprns:publicationDatepublication dateprns:sortOrdersort orderprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed Identifiervivo:authorRankauthor rank in publicationAuthorshipDepartmentDivisionvivo:hasSubjectAreahas subject areavivo:hrJobTitleHR job titleInformation Resourcevivo:informationResourceInAuthorshipauthorsvivo:linkedAuthorlinked authorvivo:linkedInformationResourcelinked information resourcePositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titlerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPersonD008297Physiology11633280.54802MaleD009123Disorders770.992015Muscle HypotoniaD009154Physiology481990.908346MutationD010770Chemicals & Drugs330.997601PhosphotransferasesMDSarahSodenSarah E. Soden0.000000000000000.00000000000000111Soden, SarahDivision DirectorD020022Physiology382240.885426Genetic Predisposition to DiseaseAuthorship 266280.3210150.1605074authors10.2512has subject areaD000015Disorders16380.958765Abnormalities, MultiplePhD, CGCEmilyFarrowEmily G. Farrow0.000000000000000.00000000000000124Farrow, EmilyDirector of Lab OperationsAuthorship 38575D059472Genes & Molecular Sequences15410.98483ExomeAuthorship 56499MD, FAAP, FAESAhmedAbdelmoityAhmed T. Abdelmoity0.000000000000000.00000000000000147Abdelmoity, AhmedDivision Director, Child NeurologyPediatricsClinicalChildren's Mercy Kansas CityAuthorship 6657true1Division Director, Child NeurologyDivision Director, Child Neurologytrue1Division DirectorDivision Directortrue1Director of Lab OperationsDirector of Lab OperationsD002658Disorders16430.966711Developmental DisabilitiesD002675Living Beings10415030.693171Child, PreschoolD004252Procedures16390.986402DNA Mutational AnalysisD004828Disorders560.997476Epilepsies, PartialD006801Living Beings12067970.397999Humans