- Goodman LD, Ralhan I, Li X, Lu S, Moulton MJ, Park YJ, Zhao P, Kanca O, Ghaderpour Taleghani ZS, Jacquemyn J, Shulman JM, Ando K, Sun K, Ioannou MS, Bellen HJ (2024) Tau is required for glial lipid droplet formation and resistance to neuronal oxidative stress. Nature Neuroscience :Epub ahead of print. [Abstract]
- Huang Y, Jay KL, Huang AY, Wan J, Jangam SV, Chorin O, Rothschild A, Barel O, Mariani M, Iascone M, Xue H; Undiagnosed Diseases Network; Huang J, Mignot C, Keren B, Saillour V, Mah-Som AY, Sacharow S, Rajabi F, Costin C, Yamamoto S, Kanca O, Bellen HJ, Rosenfeld JA, Palmer CGS, Nelson SF, Wangler MF, Martinez-Agosto JA (2024) Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genetics in Medicine :Epub ahead of print. [Abstract]
- Liao JZ, Chung HL, Shih C, Wong KKL, Dutta D, Nil Z, Burns CG, Kanca O, Park YJ, Zuo Z, Marcogliese PC, Sew K, Bellen HJ, Verheyen EM (2024) Cdk8/CDK19 promotes mitochondrial fission through Drp1 phosphorylation and can phenotypically suppress pink1 deficiency in Drosophila. Nat Commun 15(1):3326. [Abstract]
- Ma M, Ganapathi M, Zheng Y, Tan KL, Kanca O, Bove KE, Quintanilla N, Sag SO, Temel SG, LeDuc CA, McPartland AJ, Pereira EM, Shen Y, Hagen J, Thomas CP, Galvan NTN, Pan X, Lu S, Rosenfeld JA, Calame DG, Wangler MF, Lupski JR, Pehlivan D, Hertel PM, Chung WK, Bellen HJ (2024) Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma. Genetics in Medicine :101125. [Abstract]
- Pan X, Tao AM, Lu S, Ma M, Hannan SB, Slaugh R, Drewes Williams S, O'Grady L, Kanca O, Person R, Carter MT, Platzer K, Schnabel F, Abou Jamra R, Roberts AE, Newburger JW, Revah-Politi A, Granadillo JL, Stegmann APA, Sinnema M, Accogli A, Salpietro V, Capra V, Ghaloul-Gonzalez L, Brueckner M, Simon MEH, Sweetser DA, Glinton KE, Kirk SE; Baylor College of Medicine Center for Precision Medicine Models; Wangler MF, Yamamoto S, Chung WK, Bellen HJ (2024) De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. American Journal of Human Genetics 111(4):742-760. [Abstract]
- Martelli F, Lin J, Mele S, Imlach W, Kanca O, Barlow CK, Paril J, Schittenhelm RB, Christodoulou J, Bellen HJ, Piper MDW, Johnson TK (2024) Identifying potential dietary treatments for inherited metabolic disorders using Drosophila nutrigenomics. Cell Reports 43(3):113861. [Abstract]
- Dutta 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 HJ (2024) Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability. Proceedings of the National Academy of Science Sci U S A 121(9):e232258212. [Abstract]
- Pan X, Alvarez AN, Ma M, Lu S, Crawford MW, Briere LC, Kanca O, Yamamoto S, Sweetser DA, Wilson JL, Napier RJ, Pruneda JN#, Bellen HJ# (2023) Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays. eLife 12:RP89891. [Abstract]
- Dutta 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 HJ (2023) A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels. Nature Metabolism 5(9):1595-1614. [Abstract]
- Yamamoto S#, Kanca O#, Wangler MF *, Bellen HJ* (2023) Integrating non-mammaliam model organism in the diagnosis of rare genetic human disease. Nature Review Genetics :doi: 10.1038/s41576-023-00633-6. [Abstract]
- Guichard A*, Lu S*, Kanca O*, Bressan D, Huang Y, Ma M, Sanz Juste S, Andrews JC, Jay K, Sneider M, Schwartz R, Huang MC, Bei D, Pan H, Ma L, Lin W-W, Auradkar A, Bhagwat P, Park S, Wan KH, Ohsako T, Takano-Shimizu T, Celniker SE, Wangler MF, Yamamoto S#, Bellen HJ#, Bier E# (2023) A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins. Cell Reports 42(8):112842. [Abstract]
- Andrews JC, Mok JW, Kanca O, Jangam S, Tifft C, Macnamara EF, Russell B, Wang LK, Undiagnosed Disease Network (UDN), Nelson SF, Bellen HJ, Yamamoto S, Malicdan M#, Wangler MF# (2023) De Novo Variants in MRTFB have gain of function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features. Genetics in Medicine 25(6):100833. [Abstract]
- Nil Z*, Deshwar AR*, Huang Y, Barish S, Zhang X, Choufani S, Stabej PLQ, Hayes I, Yap P, Haldeman-Englert C, Wilson C, Prescott T, Tveten K, Vollo 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 HJ# (2023) Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies. American Journal of Human Genetics :in press. *equal contribution, # corresponding authors
- Chung HL, Ye Q, Park Y-J, Zuo Z, Kanca O, Mok J-W, Tattikota SG, Lu S, Perrimon N, Lee HK, Bellen HJ (2023) Very long-chain fatty acids induce glial-derived Sphingosine-1-Phosphate synthesis, secretion, and neuroinflammation. Cell Metabolism 35(5):855-874.
- Tepe B, Macke EL, Niceta M, Hubsham MW, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer B, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Guillou XL, 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. Gößwein S, Donato ND, Bertini ES, Undiagnosed Diseases Network(UDN), Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ (2023) Biallelic variants in INTS11 are associated with a novel complex neurological disorder. American Journal of Human Genetics 110(5):774-789.
- Mele S, Martelli F, Lin J, Kanca O, Christodoulou J, Bellen H (2022) Drosophila as a diet discovery tool for treating amino acid disorders. Trends in Endocrinology & Metabolism :DOI: https://doi.org/10.1016/j.tem.2022.12.004. [Abstract]
- Huang 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 HJ (2022) The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. American Journal of Human Genetics 109(11):2092. *contributed equally [Abstract]
- Lepeta K, Roubinet C, Bauer M, Vigano MA, Aguilar G, Kanca O, Ochoa-Espinosa A, Bieli D, Cabernard C, Cassinus E, Affolter M (2022) Engineered kinases as a tool for phosphorylation of selected targets in vivo. Journal of Cell Biology 221(10):e202106179. [Abstract]
- Kanca O, Zirin J, Hu Y, Tepe B, Dutta D, Lin WW, Ma L, Ge M, Zuo Z, Liu LP, Levis RW, Perrimon N, Bellen HJ (2022) An expanded toolkit for Drosophila gene tagging using synthesized homology donor constructs for CRISPR mediated homologous recombination. eLife :DOI: 10.7554/eLife.76077. [Abstract]
- Wang Y, Lobb-Rabe M, Ashley J, Chatterjee P, Anand V, Bellen HJ, Kanca O, Carrillo R (2022) Systematic expression profiling of dprs and DIPs reveals cell surface codes in Drosophila larval motor and sensory neurons. Development : doi: 10.1242/dev.200355. [Abstract]
- Huang 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 HJ (2022) Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms. Human Molecular Genetics :doi: 10.1093/hmg/ddac070. [Abstract]
- Chung 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 HJ*, Harel T* (2022) De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila. Human Molecular Genetics :doi: 10.1093/hmg/ddac053. * equal contribution. [Abstract]
- Marcogliese 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, Longley CM, Chao HT, Chung H, Haelterman NA, Kanca O, Manivannan SN, Rossetti LZ, Gerard A, Schwaibold EMC, 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, Keller R, Pavinato L, Brusco A, Rosenfeld JA, Marom R, Wangler MF, Yamamoto S (2021) Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases. bioRxiv 424813: *Contributed equally. Download PDF. [Abstract]
- Marcogliese PC*#, Dutta D*, Sinha-Ray S, Dang NDP, Zuo Z, Wang Y, Lu D, Fazal F, Ravenscroft TA, Chung HL, Kanca O, Wan J, Douine ED, Pena LDM, Yamamoto S, Nelson SF, Might M, Meyer KC, Yeo NC, Bellen HJ# (2021) Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. Science Advances :doi: 10.1126/sciadv.abl5613. (*co-first authors and #co-corresponding authors). [Abstract]
- Manivannan 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, Jonghe PD, Yamamoto S, Weckhuysen S, Bellen HJ (2021) De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathy. Brain :doi: 10.1093/brain/awab409. [Abstract]
- Goodman 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, Cogne 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, UDN Consortia, Wangler MF, Yamamoto S, Bellen HJ*, Tan QKG*
(2021) De novo TNPO2 variants are associated with developmental delays, neurologic deficits and dysmorphic features in humans and alter TNPO2 activity in Drosophila. American Journal of Human Genetics :DOI:10.1016/j.ajhg.2021.06.019. *equal contribution [Abstract]
- Dutta 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, Undiagnosed Diseases Network, Wangler MF, Yamamoto S, Sweetser DA, Bellen HJ (2020) De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Human Molecular Genetics 29(9):1568-1579. [Abstract]
- Bosch JA, Knight S, Kanca O, Zirin J, Yang-Zhou D, Hu Y, Rodiger J, Amador G, Bellen HJ, Perrimon N, Mohr SE (2020) Use of the CRISPR-Cas9 system in Drosophila cultured cells to introduce fluorescent tags into endogenous genes. Current Protocols in Molecular Biology 130:e112. [Abstract]
- Kanca O, Zirin J, Garcia-Marques J, Knight SM, Yang-Zhou D, Amador G, Chung HL, 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 HJ (2019) An efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms. eLife 8:e51539. [Abstract]
- Kanca O, Bellen HJ (2019) La CaSSA da Drosophila: a versatile expansion of the tool box. Neuron 23:177-179. [Abstract]
- Kanca 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 MCV (2019) De novo variants in WDR37 are associated with epilepsy, colobomas, dysmorphism, developmental delay, intellectual disability, and cerebellar hypoplasia. American Journal of Human Genetics :Epub ahead of print. [Abstract]
- Li-Kroeger D*, Kanca O*, Lee PT, Cowan S, Lee MT, Jaiswal M, Salazar JL, He Y, Zuo Z, Bellen HJ (2018) An expanded toolkit for gene tagging based on MiMIC and scarless CRISPR tagging in Drosophila. eLife 7:e38709. (*equal contribution) [Abstract]
- Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, 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 LDM (2018) IRF2BPL is associated with neurological phenotypes. American Journal of Human Genetics 103:245-260. [Abstract]
- Lee 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 HJ (2018) A gene-specific T2A-GAL4 library for Drosophila. eLife 7:e35574. [Abstract]
- Kanca O, Bellen HJ, Schnorrer F (2017) Gene tagging strategies to assess protein expression, localization, and function in Drosophila. Genetics 207:389-412. [Abstract]
- Bieli D, Kanca O, Requena D, Hamaratoglu F, Gohl D, Schedl P, Affolter M, Slattery M, Müller M, Estella C (2015) Establishment of a developmental compartment requires interactions between three synergistic cis-regulatory modules. PLoS Genetics 11:e1005376. [Abstract]
- Denes AS, Kanca O, Affolter M (2015) A cellular process that includes asymmetric cytokinesis remodels the dorsal tracheal branches in Drosophila larvae. Development 142:1794-1805. [Abstract]
- Bieli D, Kanca O, Gohl D, Denes A, Schedl P, Affolter M, Müller M (2015) The Drosophila melanogaster mutants apblot and apXasta affect an essential apterous wing enhancer. G3 5:1129-1143. [Abstract]
- Kanca O, Ochoa-Espinosa A, Affolter M (2014) IV. Tools and methods for studying cell migration and cell rearrangement in tissue and organ development. Methods 68:228-232. [Abstract]
- Kanca O, Caussinus E, Denes AS, Percival-Smith A, Affolter M (2014) Raeppli: a whole-tissue labeling tool for live imaging of Drosophila development. Development 141:472-480. [Abstract]
- Caussinus E, Kanca O, Affolter M (2013) Protein knockouts in living eukaryotes using deGradFP and green fluorescent protein fusion targets. Current Protocols in Protein Science 73:Unit 30.2. [Abstract]
- Caussinus E, Kanca O, Affolter M (2011) Fluorescent fusion protein knockout mediated by anti-GFP nanobody. Nature Structural and Molecular Biology 19:117-121. [Abstract]
- Mitchell JS, Kanca O, McIntyre BW (2002) Lipid microdomain clustering induces a redistribution of antigen recognition and adhesion molecules on human T lymphocytes. Journal of Immunology 168:2737-2744. [Abstract]
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