| Year | Citation | Score | |||
|---|---|---|---|---|---|
| 2023 | 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. Allelic strengths of encephalopathy-associated variants correlate between in vivo and in vitro assays. Elife. 12. PMID 38079206 DOI: 10.7554/eLife.89891 | 0.519 | |||
| 2023 | Nil 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, Vøllo A, Haynes D, ... ... Kanca O, et al. Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies. American Journal of Human Genetics. PMID 37827158 DOI: 10.1016/j.ajhg.2023.09.009 | 0.63 | |||
| 2023 | Dutta D, Kanca O, Byeon SK, Marcogliese PC, Zuo Z, Shridharan RV, Park JH, Lin G, Ge M, Heimer G, Kohler JN, Wheeler MT, Kaipparettu BA, Pandey A, Bellen HJ. A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels. Nature Metabolism. PMID 37653044 DOI: 10.1038/s42255-023-00873-0 | 0.763 | |||
| 2023 | 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. Allelic strengths of encephalopathy-associated variants correlate between and assays. Medrxiv : the Preprint Server For Health Sciences. PMID 37502976 DOI: 10.1101/2023.07.17.23292782 | 0.819 | |||
| 2023 | Yamamoto S, Kanca O, Wangler MF, Bellen HJ. Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans. Nature Reviews. Genetics. PMID 37491400 DOI: 10.1038/s41576-023-00633-6 | 0.726 | |||
| 2023 | Guichard 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, et al. A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins. Cell Reports. 42: 112842. PMID 37480566 DOI: 10.1016/j.celrep.2023.112842 | 0.787 | |||
| 2023 | Chung HL, Ye Q, Park YJ, Zuo Z, Mok JW, Kanca O, Tattikota SG, Lu S, Perrimon N, Lee HK, Bellen HJ. Very-long-chain fatty acids induce glial-derived sphingosine-1-phosphate synthesis, secretion, and neuroinflammation. Cell Metabolism. PMID 37084732 DOI: 10.1016/j.cmet.2023.03.022 | 0.757 | |||
| 2023 | Tepe 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, et al. Bi-allelic variants in INTS11 are associated with a complex neurological disorder. American Journal of Human Genetics. PMID 37054711 DOI: 10.1016/j.ajhg.2023.03.012 | 0.71 | |||
| 2023 | Andrews JC, Mok JW, Kanca O, Jangam S, Tifft C, Macnamara EF, Russell BE, Wang LK, Nelson SF, Bellen HJ, Yamamoto S, Malicdan MCV, Wangler MF. 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 : Official Journal of the American College of Medical Genetics. 100833. PMID 37013900 DOI: 10.1016/j.gim.2023.100833 | 0.722 | |||
| 2022 | Mele S, Martelli F, Lin J, Kanca O, Christodoulou J, Bellen HJ, Piper MDW, Johnson TK. Drosophila as a diet discovery tool for treating amino acid disorders. Trends in Endocrinology and Metabolism: Tem. PMID 36567227 DOI: 10.1016/j.tem.2022.12.004 | 0.436 | |||
| 2022 | Huang Y, Lemire G, Briere LC, Liu F, Wessels MW, Wang X, Osmond M, Kanca O, Lu S, High FA, Walker MA, Rodan LH, Wangler MF, Yamamoto S, Kernohan KD, et al. The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. American Journal of Human Genetics. 109: 2092. PMID 36332614 DOI: 10.1016/j.ajhg.2022.10.001 | 0.761 | |||
| 2022 | Lepeta K, Roubinet C, Bauer M, Vigano MA, Aguilar G, Kanca O, Ochoa-Espinosa A, Bieli D, Cabernard C, Caussinus E, Affolter M. Engineered kinases as a tool for phosphorylation of selected targets in vivo. The Journal of Cell Biology. 221. PMID 36102907 DOI: 10.1083/jcb.202106179 | 0.751 | |||
| 2022 | Huang Y, Lemire G, Briere LC, Liu F, Wessels MW, Wang X, Osmond M, Kanca O, Lu S, High FA, Walker MA, Rodan LH, Kernohan KD, Sweetser DA, Boycott KM, et al. The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. American Journal of Human Genetics. PMID 36067766 DOI: 10.1016/j.ajhg.2022.08.011 | 0.808 | |||
| 2022 | 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. An expanded toolkit for Drosophila gene tagging using synthesized homology donor constructs for CRISPR mediated homologous recombination. Elife. 11. PMID 35723254 DOI: 10.7554/eLife.76077 | 0.789 | |||
| 2022 | Wang Y, Lobb-Rabe M, Ashley J, Chatterjee P, Anand V, Bellen HJ, Kanca O, Carrillo RA. Systematic expression profiling of dprs and DIPs reveals cell surface codes in Drosophila larval motor and sensory neurons. Development (Cambridge, England). PMID 35502740 DOI: 10.1242/dev.200355 | 0.485 | |||
| 2022 | 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. Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms. Human Molecular Genetics. PMID 35348658 DOI: 10.1093/hmg/ddac070 | 0.819 | |||
| 2022 | 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, Bhadane P, ... ... Kanca O, et al. Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. Cell Reports. 38: 110517. PMID 35294868 DOI: 10.1016/j.celrep.2022.110517 | 0.766 | |||
| 2022 | 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, et al. De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in drosophila. Human Molecular Genetics. PMID 35234901 DOI: 10.1093/hmg/ddac053 | 0.788 | |||
| 2022 | Marcogliese 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, et al. Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. Science Advances. 8: eabl5613. PMID 35044823 DOI: 10.1126/sciadv.abl5613 | 0.761 | |||
| 2021 | 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, Mefford H, et al. De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies. Brain : a Journal of Neurology. PMID 34788397 DOI: 10.1093/brain/awab409 | 0.808 | |||
| 2021 | 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, ... ... Kanca O, et al. TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. American Journal of Human Genetics. PMID 34314705 DOI: 10.1016/j.ajhg.2021.06.019 | 0.748 | |||
| 2021 | Ravenscroft TA, Phillips JB, Fieg E, Bajikar SS, Peirce J, Wegner J, Luna AA, Fox EJ, Yan YL, Rosenfeld JA, Zirin J, Kanca O, Benke PJ, Cameron ES, et al. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 34113007 DOI: 10.1038/s41436-021-01216-8 | 0.809 | |||
| 2020 | 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, Network UD, Wangler MF, et al. De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Human Molecular Genetics. PMID 32356556 DOI: 10.1093/Hmg/Ddaa081 | 0.787 | |||
| 2020 | Bosch JA, Knight S, Kanca O, Zirin J, Yang-Zhou D, Hu Y, Rodiger J, Amador G, Bellen HJ, Perrimon N, Mohr SE. Use of the CRISPR-Cas9 System in Drosophila Cultured Cells to Introduce Fluorescent Tags into Endogenous Genes. Current Protocols in Molecular Biology. 130: e112. PMID 31869524 DOI: 10.1002/cpmb.112 | 0.438 | |||
| 2019 | Kanca 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, et al. An efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms. Elife. 8. PMID 31674908 DOI: 10.7554/Elife.51539 | 0.761 | |||
| 2019 | Kanca O, Bellen HJ. La CaSSA da Drosophila: A Versatile Expansion of the Tool Box. Neuron. 104: 177-179. PMID 31647888 DOI: 10.1016/J.Neuron.2019.10.004 | 0.493 | |||
| 2019 | 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, et al. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. American Journal of Human Genetics. 105: 672-674. PMID 31491411 DOI: 10.1016/J.Ajhg.2019.07.017 | 0.717 | |||
| 2019 | 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, et al. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. American Journal of Human Genetics. PMID 31327508 DOI: 10.1016/J.Ajhg.2019.06.014 | 0.783 | |||
| 2019 | Kanca O, Zirin J, Garcia-Marques J, Knight SM, Yang-Zhou D, Amador G, Chung H, Zuo Z, Ma L, He Y, Lin W, Fang Y, Ge M, Yamamoto S, Schulze KL, et al. Author response: An efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms Elife. DOI: 10.7554/Elife.51539.024 | 0.545 | |||
| 2018 | 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, Ortiz D, ... ... Kanca O, et al. IRF2BPL Is Associated with Neurological Phenotypes. American Journal of Human Genetics. 103: 456. PMID 30193138 DOI: 10.1016/j.ajhg.2018.08.010 | 0.772 | |||
| 2018 | Li-Kroeger D, Kanca O, Lee PT, Cowan S, Lee MT, Jaiswal M, Salazar JL, He Y, Zuo Z, Bellen HJ. An expanded toolkit for gene tagging based on MiMIC and scarless CRISPR tagging in . Elife. 7. PMID 30091705 DOI: 10.7554/Elife.38709 | 0.799 | |||
| 2018 | 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, Ortiz D, Infante E, ... ... Kanca O, et al. IRF2BPL Is Associated with Neurological Phenotypes. American Journal of Human Genetics. PMID 30057031 DOI: 10.1016/J.Ajhg.2018.07.006 | 0.819 | |||
| 2018 | 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, et al. A gene-specificlibrary for. Elife. 7. PMID 29565247 DOI: 10.7554/Elife.35574 | 0.808 | |||
| 2018 | Li-Kroeger D, Kanca O, Lee P, Cowan S, Lee MT, Jaiswal M, Salazar JL, He Y, Zuo Z, Bellen HJ. Author response: An expanded toolkit for gene tagging based on MiMIC and scarless CRISPR tagging in Drosophila Elife. DOI: 10.7554/Elife.38709.023 | 0.772 | |||
| 2018 | Lee P, Zirin J, Kanca O, Lin W, Schulze KL, Li-Kroeger D, Tao R, Devereaux C, Hu Y, Chung V, Fang Y, He Y, Pan H, Ge M, Zuo Z, et al. Author response: A gene-specific T2A-GAL4 library for Drosophila Elife. DOI: 10.7554/Elife.35574.023 | 0.778 | |||
| 2017 | Kanca O, Bellen H, Schnorrer F. Gene tagging strategies to assess protein expression, localization and function in Drosophila (vol 207, pg 389, 2017) Genetics. 207: 1711. PMID 29203702 DOI: 10.1534/Genetics.117.300392 | 0.565 | |||
| 2017 | Kanca O, Bellen HJ, Schnorrer F. Gene Tagging Strategies To Assess Protein Expression, Localization, and Function in Drosophila. Genetics. 207: 389-412. PMID 28978772 DOI: 10.1534/Genetics.117.199968 | 0.56 | |||
| 2015 | Bieli D, Kanca O, Requena D, Hamaratoglu F, Gohl D, Schedl P, Affolter M, Slattery M, Müller M, Estella C. Establishment of a Developmental Compartment Requires Interactions between Three Synergistic Cis-regulatory Modules. Plos Genetics. 11: e1005376. PMID 26468882 DOI: 10.1371/Journal.Pgen.1005376 | 0.792 | |||
| 2015 | Denes AS, Kanca O, Affolter M. A cellular process that includes asymmetric cytokinesis remodels the dorsal tracheal branches in Drosophila larvae. Development (Cambridge, England). 142: 1794-805. PMID 25968315 DOI: 10.1242/Dev.118372 | 0.522 | |||
| 2015 | Bieli D, Kanca O, Gohl D, Denes A, Schedl P, Affolter M, Müller M. The Drosophila melanogaster Mutants apblot and apXasta Affect an Essential apterous Wing Enhancer. G3 (Bethesda, Md.). 5: 1129-43. PMID 25840432 DOI: 10.1534/G3.115.017707 | 0.553 | |||
| 2014 | Kanca O, Ochoa-Espinosa A, Affolter M. IV. Tools and methods for studying cell migration and cell rearrangement in tissue and organ development. Methods (San Diego, Calif.). 68: 228-32. PMID 24631575 DOI: 10.1016/J.Ymeth.2014.03.004 | 0.755 | |||
| 2014 | Kanca O, Caussinus E, Denes AS, Percival-Smith A, Affolter M. Raeppli: a whole-tissue labeling tool for live imaging of Drosophila development. Development (Cambridge, England). 141: 472-80. PMID 24335257 DOI: 10.1242/Dev.102913 | 0.501 | |||
| 2013 | Caussinus E, Kanca O, Affolter M. Protein knockouts in living eukaryotes using deGradFP and green fluorescent protein fusion targets. Current Protocols in Protein Science / Editorial Board, John E. Coligan ... [Et Al.]. 73: Unit 30.2. PMID 24510595 DOI: 10.1002/0471140864.Ps3002S73 | 0.578 | |||
| 2012 | Caussinus E, Kanca O, Affolter M. Fluorescent fusion protein knockout mediated by anti-GFP nanobody. Nature Structural & Molecular Biology. 19: 117-21. PMID 22157958 DOI: 10.1038/Nsmb.2180 | 0.571 | |||
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