OGUZKANCAOGUZ KANCA10276KANCA, OGUZInstructorprns:coAuthorOfcoauthor ofFaculty Rankprns:fullNamefull nameprns:hasAuthorListauthor listprns:hasFacultyRankhas faculty rankprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns: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:similarTosimilar toprns:sortOrdersort orderprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed IdentifierAddressvivo:address1address line 1vivo:addressCitycityvivo:addressPostalCodepostal codevivo:addressStatestate or provincevivo:authorInAuthorshipselected publicationsvivo:authorRankauthor rank in publicationAuthorshipDepartmentDivisionvivo:hasResearchArearesearch areasvivo:hrJobTitleHR job titleInformation Resourcevivo:linkAnchorTextlink anchor textvivo:linkedAuthorlinked authorvivo:linkedInformationResourcelinked information resourcevivo:mailingAddressmailing addressvivo:personInPositionpositionsPositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titleURLLinkvivo:webpagewebpagerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPerson1250 MOURSUND STREETHouston, 77030TX2.896660.00775545214research areas7.274750.041199433coauthor of113.0185.1365660similar to1144selected publicationsAuthorship 2853882Authorship 2883461Authorship 2888792Authorship 2891091Authorship 2934082Authorship 2950562Authorship 2993912Authorship 303480211884440Mitchell JS, Kanca O, McIntyre BWJournal of immunology (Baltimore, Md. : 1950)Lipid microdomain clustering induces a redistribution of antigen recognition and adhesion molecules on human T lymphocytes. J Immunol. 2002 Mar 15; 168(6):2737-44.J Immunol2002-03-15T00:00:002002Lipid microdomain clustering induces a redistribution of antigen recognition and adhesion molecules on human T lymphocytes.22157958Caussinus E, Kanca O, Affolter MNature structural & molecular biologyFluorescent fusion protein knockout mediated by anti-GFP nanobody. Nat Struct Mol Biol. 2011 Dec 11; 19(1):117-21.Nat Struct Mol Biol2011-12-11T00:00:002011Fluorescent fusion protein knockout mediated by anti-GFP nanobody.24335257Kanca O, Caussinus E, Denes AS, Percival-Smith A, Affolter MDevelopment (Cambridge, England)Raeppli: a whole-tissue labeling tool for live imaging of Drosophila development. Development. 2014 Jan; 141(2):472-80.Development2013-12-11T00:00:002013Raeppli: a whole-tissue labeling tool for live imaging of Drosophila development.24510595Caussinus E, Kanca O, Affolter MCurrent protocols in protein scienceProtein knockouts in living eukaryotes using deGradFP and green fluorescent protein fusion targets. Curr Protoc Protein Sci. 2013 Sep 24; 73:30.2.1-30.2.13.Curr Protoc Protein Sci2013-09-24T00:00:002013Protein knockouts in living eukaryotes using deGradFP and green fluorescent protein fusion targets.24631575Kanca O, Ochoa-Espinosa A, Affolter MMethods (San Diego, Calif.)IV. Tools and methods for studying cell migration and cell rearrangement in tissue and organ development. Methods. 2014 Jun 15; 68(1):228-32.Methods2014-03-12T00:00:002014IV. Tools and methods for studying cell migration and cell rearrangement in tissue and organ development.25840432Bieli D, Kanca O, Gohl D, Denes A, Schedl P, Affolter M, M?ller MG3 (Bethesda, Md.)The Drosophila melanogaster Mutants apblot and apXasta Affect an Essential apterous Wing Enhancer. G3 (Bethesda). 2015 Apr 02; 5(6):1129-43.G3 (Bethesda)2015-04-02T00:00:002015The Drosophila melanogaster Mutants apblot and apXasta Affect an Essential apterous Wing Enhancer.25968315Denes AS, Kanca O, Affolter MDevelopment (Cambridge, England)A cellular process that includes asymmetric cytokinesis remodels the dorsal tracheal branches in Drosophila larvae. Development. 2015 May 15; 142(10):1794-805.Development2015-05-15T00:00:002015A cellular process that includes asymmetric cytokinesis remodels the dorsal tracheal branches in Drosophila larvae.26468882Bieli D, Kanca O, Requena D, Hamaratoglu F, Gohl D, Schedl P, Affolter M, Slattery M, M?ller M, Estella CPLoS geneticsEstablishment of a Developmental Compartment Requires Interactions between Three Synergistic Cis-regulatory Modules. PLoS Genet. 2015 Oct; 11(10):e1005376.PLoS Genet2015-10-15T00:00:002015Establishment of a Developmental Compartment Requires Interactions between Three Synergistic Cis-regulatory Modules.74Professor10Assistant Professor54Instructor14Associate Professor6Adjunct Professor47Distinguished Service ProfessorAuthorship 882353329565247Lee PT, Zirin J, Kanca O, Lin WW, Schulze KL, Li-Kroeger D, Tao R, Devereaux C, Hu Y, Chung V, Fang Y, He Y, Pan H, Ge M, Zuo Z, Housden BE, Mohr SE, Yamamoto S, Levis RW, Spradling AC, Perrimon N, Bellen HJeLifeA gene-specific T2A-GAL4 library for Drosophila. Elife. 2018 03 22; 7.Elife2018-03-22T00:00:002018A gene-specific T2A-GAL4 library for Drosophila.true1ProfessorProfessortrue1Assistant ProfessorAssistant ProfessorD008607Disorders24810220.566972Intellectual Disability30057031Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Mart?nez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K, Program for Undiagnosed Diseases (UD-PrOZA), Undiagnosed Diseases Network, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDMAmerican journal of human geneticsIRF2BPL Is Associated with Neurological Phenotypes. Am J Hum Genet. 2018 08 02; 103(2):245-260.Am J Hum Genet2018-07-26T00:00:002018IRF2BPL Is Associated with Neurological Phenotypes.D029721Chemicals & Drugs2288520.604788Drosophila ProteinsD009421Disorders751250.875604Nervous System MalformationsAuthorship 9227771Authorship 9300922Authorship 93641222Authorship 9396092228978772Kanca O, Bellen HJ, Schnorrer FGeneticsGene Tagging Strategies To Assess Protein Expression, Localization, and Function in Drosophila. Genetics. 2017 10; 207(2):389-412.Genetics2017-10-01T00:00:002017Gene Tagging Strategies To Assess Protein Expression, Localization, and Function in Drosophila.30193138Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Mart?nez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K, Program for Undiagnosed Diseases (UD-PrOZA), Undiagnosed Diseases Network, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDMAmerican journal of human geneticsIRF2BPL Is Associated with Neurological Phenotypes. Am J Hum Genet. 2018 09 06; 103(3):456.Am J Hum Genet2018-09-06T00:00:002018IRF2BPL Is Associated with Neurological Phenotypes.30091705Li-Kroeger D, Kanca O, Lee PT, Cowan S, Lee MT, Jaiswal M, Salazar JL, He Y, Zuo Z, Bellen HJeLifeAn expanded toolkit for gene tagging based on MiMIC and scarless CRISPR tagging in Drosophila. Elife. 2018 08 09; 7.Elife2018-08-09T00:00:002018An expanded toolkit for gene tagging based on MiMIC and scarless CRISPR tagging in Drosophila.D004330Living Beings2288180.663723DrosophilaDepartment of Molecular & Cellular BiologyDepartment of Molecular & Human GeneticsDepartment of Pathology & ImmunologyMolecular & Cellular BiologyMolecular & Human GeneticsPathologyBaylor College of MedicineJAMESLUPSKIJAMES LUPSKI29.71073630000000-95.396604500000003140LUPSKI, JAMESProfessorRONALDDAVISRONALD DAVIS0.000000000000000.000000000000003208DAVIS, RONALDAdjunct ProfessorGRAEMEMARDONGRAEME MARDON0.000000000000000.000000000000003439MARDON, GRAEMEProfessorHUGOBELLENHUGO BELLEN29.71010310000000-95.397396100000003292BELLEN, HUGODistinguished Service ProfessorMICHAELWANGLERMICHAEL WANGLER29.71009470000000-95.397401400000003839WANGLER, MICHAELAssociate ProfessorD064112Chemicals & DrugsGenes & Molecular Sequences65830.902486Clustered Regularly Interspaced Short Palindromic RepeatsAuthorship 952391131327508Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC, Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCVAmerican journal of human geneticsDe Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 08 01; 105(2):413-424.Am J Hum Genet2019-07-18T00:00:002019De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.Authorship 955045131491411Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC, Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCVAmerican journal of human geneticsDe Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 Sep 05; 105(3):672-674.Am J Hum Genet2019-09-05T00:00:002019De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.Authorship 957807131647888Kanca O, Bellen HJNeuronLa CaSSA da Drosophila: A Versatile Expansion of the Tool Box. Neuron. 2019 10 23; 104(2):177-179.Neuron2019-10-23T00:00:002019La CaSSA da Drosophila: A Versatile Expansion of the Tool Box.Authorship 958241131674908Kanca O, Zirin J, Garcia-Marques J, Knight SM, Yang-Zhou D, Amador G, Chung H, Zuo Z, Ma L, He Y, Lin WW, Fang Y, Ge M, Yamamoto S, Schulze KL, Hu Y, Spradling AC, Mohr SE, Perrimon N, Bellen HJeLifeAn efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms. Elife. 2019 11 01; 8.Elife2019-11-01T00:00:002019An efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms.true1Adjunct ProfessorAdjunct Professortrue1ProfessorProfessortrue1Postdoc Fellows and AssociatesPostdoc Fellows and AssociatesDebdeepDuttaDebdeep Dutta14905Dutta, DebdeepPostdoc Fellows and AssociatesAuthorship 974603331869524Bosch JA, Knight S, Kanca O, Zirin J, Yang-Zhou D, Hu Y, Rodiger J, Amador G, Bellen HJ, Perrimon N, Mohr SECurrent protocols in molecular biologyUse of the CRISPR-Cas9 System in Drosophila Cultured Cells to Introduce Fluorescent Tags into Endogenous Genes. Curr Protoc Mol Biol. 2020 Mar; 130(1):e112.Curr Protoc Mol Biol2020-03-01T00:00:002020Use of the CRISPR-Cas9 System in Drosophila Cultured Cells to Introduce Fluorescent Tags into Endogenous Genes.71Postdoc Fellows and AssociatesPostDocSHINYAYAMAMOTOSHINYA YAMAMOTO0.000000000000000.000000000000005831YAMAMOTO, SHINYAAssistant ProfessorAuthorship 988448332356556Dutta D, Briere LC, Kanca O, Marcogliese PC, Walker MA, High FA, Vanderver A, Krier J, Carmichael N, Callahan C, Taft RJ, Simons C, Helman G, Network UD, Wangler MF, Yamamoto S, Sweetser DA, Bellen HJHuman molecular geneticsDe novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Hum Mol Genet. 2020 06 03; 29(9):1568-1579.Hum Mol Genet2020-06-03T00:00:002020De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.true1Postdoc Fellows and AssociatesPostdoc Fellows and AssociatesXueyangPanXueyang Pan15970Pan, XueyangPostdoc Fellows and Associateshttp://flypush.imgen.bcm.tmc.eduBellen Lab Websitetrue1InstructorInstructorAuthorship 10208271234113007Ravenscroft TA, Phillips JB, Fieg E, Bajikar SS, Peirce J, Wegner J, Luna AA, Fox EJ, Yan YL, Rosenfeld JA, Zirin J, Kanca O, Undiagnosed Diseases Network, Benke PJ, Cameron ES, Strehlow V, Platzer K, Jamra RA, Kl?ckner C, Osmond M, Licata T, Rojas S, Dyment D, Chong JSC, Lincoln S, Stoler JM, Postlethwait JH, Wangler MF, Yamamoto S, Krier J, Westerfield M, Bellen HJGenetics in medicine : official journal of the American College of Medical GeneticsHeterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genet Med. 2021 10; 23(10):1889-1900.Genet Med2021-06-10T00:00:002021Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.Authorship 10262814134314705Goodman LD, Cope H, Nil Z, Ravenscroft TA, Charng WL, Lu S, Tien AC, Pfundt R, Koolen DA, Haaxma CA, Veenstra-Knol HE, Wassink-Ruiter JSK, Wevers MR, Jones M, Walsh LE, Klee VH, Theunis M, Legius E, Steel D, Barwick KES, Kurian MA, Mohammad SS, Dale RC, Terhal PA, van Binsbergen E, Kirmse B, Robinette B, Cogn? B, Isidor B, Grebe TA, Kulch P, Hainline BE, Sapp K, Morava E, Klee EW, Macke EL, Trapane P, Spencer C, Si Y, Begtrup A, Moulton MJ, Dutta D, Kanca O, Undiagnosed Diseases Network, Wangler MF, Yamamoto S, Bellen HJ, Tan QKAmerican journal of human geneticsTNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. Am J Hum Genet. 2021 09 02; 108(9):1669-1691.Am J Hum Genet2021-07-26T00:00:002021TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.true1Distinguished Service ProfessorDistinguished Service ProfessorAuthorship 1034282734788397Manivannan SN, Roovers J, Smal N, Myers CT, Turkdogan D, Roelens F, Kanca O, Chung HL, Scholz T, Hermann K, Bierhals T, Caglayan HS, Stamberger H, MAE Working Group of EuroEPINOMICS RES Consortium, Mefford H, de Jonghe P, Yamamoto S, Weckhuysen S, Bellen HJBrain : a journal of neurologyDe novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies. Brain. 2022 06 03; 145(5):1684-1697.Brain2022-06-03T00:00:002022De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.Authorship 103841621Authorship 104010411Authorship 10413259Authorship 1041633535294868Marcogliese PC, Deal SL, Andrews J, Harnish JM, Bhavana VH, Graves HK, Jangam S, Luo X, Liu N, Bei D, Chao YH, Hull B, Lee PT, Pan H, Bhadane P, Huang MC, Longley CM, Chao HT, Chung HL, Haelterman NA, Kanca O, Manivannan SN, Rossetti LZ, German RJ, Gerard A, Schwaibold EMC, Fehr S, Guerrini R, Vetro A, England E, Murali CN, Barakat TS, van Dooren MF, Wilke M, van Slegtenhorst M, Lesca G, Sabatier I, Chatron N, Brownstein CA, Madden JA, Agrawal PB, Keren B, Courtin T, Perrin L, Brugger M, Roser T, Leiz S, Mau-Them FT, Delanne J, Sukarova-Angelovska E, Trajkova S, Rosenhahn E, Strehlow V, Platzer K, Keller R, Pavinato L, Brusco A, Rosenfeld JA, Marom R, Wangler MF, Yamamoto SCell reportsDrosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. Cell Rep. 2022 03 15; 38(11):110517.Cell Rep2022-03-15T00:00:002022Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.35348658Huang Y, Ma M, Mao X, Pehlivan D, Kanca O, Un-Candan F, Shu L, Akay G, Mitani T, Lu S, Candan S, Wang H, Xiao B, Lupski JR, Bellen HJHuman molecular geneticsNovel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms. Hum Mol Genet. 2022 08 23; 31(16):2751-2765.Hum Mol Genet2022-08-23T00:00:002022Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms.35234901Chung HL, Rump P, Lu D, Glassford MR, Mok JW, Fatih J, Basal A, Marcogliese PC, Kanca O, Rapp M, Fock JM, Kamsteeg EJ, Lupski JR, Larson A, Haninbal MC, Bellen H, Harel THuman molecular geneticsDe novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila. Hum Mol Genet. 2022 09 29; 31(19):3231-3244.Hum Mol Genet2022-09-29T00:00:002022De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila.35044823Marcogliese PC, Dutta D, Ray SS, Dang NDP, Zuo Z, Wang Y, Lu D, Fazal F, Ravenscroft TA, Chung H, Kanca O, Wan J, Douine ED, Network UD, Pena LDM, Yamamoto S, Nelson SF, Might M, Meyer KC, Yeo NC, Bellen HJScience advancesLoss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. Sci Adv. 2022 01 21; 8(3):eabl5613.Sci Adv2022-01-19T00:00:002022Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling.Authorship 1044997735502740Wang Y, Lobb-Rabe M, Ashley J, Chatterjee P, Anand V, Bellen HJ, Kanca O, Carrillo RADevelopment (Cambridge, England)Systematic expression profiling of Dpr and DIP genes reveals cell surface codes in Drosophila larval motor and sensory neurons. Development. 2022 05 15; 149(10).Development2022-05-15T00:00:002022Systematic expression profiling of Dpr and DIP genes reveals cell surface codes in Drosophila larval motor and sensory neurons.Authorship 1048885135723254Kanca O, Zirin J, Hu Y, Tepe B, Dutta D, Lin WW, Ma L, Ge M, Zuo Z, Liu LP, Levis RW, Perrimon N, Bellen HJeLifeAn expanded toolkit for Drosophila gene tagging using synthesized homology donor constructs for CRISPR-mediated homologous recombination. Elife. 2022 06 20; 11.Elife2022-06-20T00:00:002022An expanded toolkit for Drosophila gene tagging using synthesized homology donor constructs for CRISPR-mediated homologous recombination.true1Associate ProfessorAssociate ProfessorAuthorship 10603958Authorship 10550216Authorship 10561198Authorship 1062319436102907Lepeta K, Roubinet C, Bauer M, Vigano MA, Aguilar G, Kanca O, Ochoa-Espinosa A, Bieli D, Cabernard C, Caussinus E, Affolter MThe Journal of cell biologyEngineered kinases as a tool for phosphorylation of selected targets in vivo. J Cell Biol. 2022 10 03; 221(10).J Cell Biol2022-09-14T00:00:002022Engineered kinases as a tool for phosphorylation of selected targets in vivo.36567227Mele S, Martelli F, Lin J, Kanca O, Christodoulou J, Bellen HJ, Piper MDW, Johnson TKTrends in endocrinology and metabolism: TEMDrosophila as a diet discovery tool for treating amino acid disorders. Trends Endocrinol Metab. 2023 02; 34(2):85-105.Trends Endocrinol Metab2022-12-23T00:00:002022Drosophila as a diet discovery tool for treating amino acid disorders.36332614Huang Y, Lemire G, Briere LC, Liu F, Wessels MW, Wang X, Osmond M, Kanca O, Lu S, High FA, Walker MA, Rodan LH, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Wangler MF, Yamamoto S, Kernohan KD, Sweetser DA, Boycott KM, Bellen HJAmerican journal of human geneticsThe recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. Am J Hum Genet. 2022 Nov 03; 109(11):2092.Am J Hum Genet2022-11-03T00:00:002022The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.36067766Huang Y, Lemire G, Briere LC, Liu F, Wessels MW, Wang X, Osmond M, Kanca O, Lu S, High FA, Walker MA, Rodan LH, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Kernohan KD, Sweetser DA, Boycott KM, Bellen HJAmerican journal of human geneticsThe recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. Am J Hum Genet. 2022 10 06; 109(10):1923-1931.Am J Hum Genet2022-09-05T00:00:002022The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.Authorship 10681716Authorship 10688925Authorship 1068368437054711Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P, G??wein S, Di Donato N, Bertini ES, Undiagnosed Diseases Network, Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJAmerican journal of human geneticsBi-allelic variants in INTS11 are associated with a complex neurological disorder. Am J Hum Genet. 2023 05 04; 110(5):774-789.Am J Hum Genet2023-04-12T00:00:002023Bi-allelic variants in INTS11 are associated with a complex neurological disorder.37084732Chung HL, Ye Q, Park YJ, Zuo Z, Mok JW, Kanca O, Tattikota SG, Lu S, Perrimon N, Lee HK, Bellen HJCell metabolismVery-long-chain fatty acids induce glial-derived sphingosine-1-phosphate synthesis, secretion, and neuroinflammation. Cell Metab. 2023 05 02; 35(5):855-874.e5.Cell Metab2023-04-20T00:00:002023Very-long-chain fatty acids induce glial-derived sphingosine-1-phosphate synthesis, secretion, and neuroinflammation.37013900Andrews JC, Mok JW, Kanca O, Jangam S, Tifft C, Macnamara EF, Russell BE, Wang LK, Undiagnosed Diseases Network, Nelson SF, Bellen HJ, Yamamoto S, Malicdan MCV, Wangler MFGenetics in medicine : official journal of the American College of Medical GeneticsDe novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features. Genet Med. 2023 06; 25(6):100833.Genet Med2023-03-31T00:00:002023De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.Authorship 10757747Authorship 10756992Authorship 1075562337480566Guichard A, Lu S, Kanca O, Bressan D, Huang Y, Ma M, Sanz Juste S, Andrews JC, Jay KL, Sneider M, Schwartz R, Huang MC, Bei D, Pan H, Ma L, Lin WW, Auradkar A, Bhagwat P, Park S, Wan KH, Ohsako T, Takano-Shimizu T, Celniker SE, Wangler MF, Yamamoto S, Bellen HJ, Bier ECell reportsA comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins. Cell Rep. 2023 08 29; 42(8):112842.Cell Rep2023-07-20T00:00:002023A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins.37502976Pan X, Alvarez AN, Ma M, Lu S, Crawford MW, Briere LC, Kanca O, Yamamoto S, Sweetser DA, Wilson JL, Napier RJ, Pruneda JN, Bellen HJmedRxiv : the preprint server for health sciencesAllelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays. medRxiv. 2023 Oct 02.medRxiv2023-10-02T00:00:002023Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays.37491400Yamamoto S, Kanca O, Wangler MF, Bellen HJNature reviews. GeneticsIntegrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans. Nat Rev Genet. 2024 Jan; 25(1):46-60.Nat Rev Genet2023-07-25T00:00:002023Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans.Authorship 1077538237653044Dutta D, Kanca O, Byeon SK, Marcogliese PC, Zuo Z, Shridharan RV, Park JH, Undiagnosed Diseases Network, Lin G, Ge M, Heimer G, Kohler JN, Wheeler MT, Kaipparettu BA, Pandey A, Bellen HJNature metabolismA defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels. Nat Metab. 2023 09; 5(9):1595-1614.Nat Metab2023-08-31T00:00:002023A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels.Authorship 10808922637827158Nil Z, Deshwar AR, Huang Y, Barish S, Zhang X, Choufani S, Le Quesne Stabej P, Hayes I, Yap P, Haldeman-Englert C, Wilson C, Prescott T, Tveten K, V?llo A, Haynes D, Wheeler PG, Zon J, Cytrynbaum C, Jobling R, Blyth M, Banka S, Afenjar A, Mignot C, Robin-Renaldo F, Keren B, Kanca O, Mao X, Wegner DJ, Sisco K, Shinawi M, Undiagnosed Disease Network, Wangler MF, Weksberg R, Yamamoto S, Costain G, Bellen HJAmerican journal of human geneticsRare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies. Am J Hum Genet. 2023 11 02; 110(11):1919-1937.Am J Hum Genet2023-10-11T00:00:002023Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.Authorship 1085568738079206Pan X, Alvarez AN, Ma M, Lu S, Crawford MW, Briere LC, Kanca O, Yamamoto S, Sweetser DA, Wilson JL, Napier RJ, Pruneda JN, Bellen HJeLifeAllelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays. Elife. 2023 Dec 11; 12.Elife2023-12-11T00:00:002023Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays.Authorship 1089434238381787Dutta D, Kanca O, Shridharan RV, Marcogliese PC, Steger B, Morimoto M, Frost FG, Macnamara E, Undiagnosed Diseases Network, Wangler MF, Yamamoto S, Jenny A, Adams D, Malicdan MC, Bellen HJProceedings of the National Academy of Sciences of the United States of AmericaLoss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability. 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