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OGUZ KANCA

TitleInstructor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
Address1250 MOURSUND STREET
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Yasuda R, Hashimoto H, Oka M, Mok JW, Waqar M, Dauwalder B, Kanca O, Mizuno T, Yamamoto S. Functional analysis of pathogenic variants in LAMB1-related leukoencephalopathy reveals genotype-phenotype correlations and suggests its role in glial cells. Hum Mol Genet. 2025 May 17; 34(11):990-999. PMID: 40237576; PMCID: PMC12085778.
      Citations:    Fields:    
    2. Huang Y, Xiang Z, Xiang Y, Pan H, He M, Guo Z, Kanca O, Liu C, Zhang Z, Zhan H, Wang Y, Bai QR, Bellen HJ, Wang H, Bian S, Mao X, Kanca O, Bai QR, Bellen HJ, Bian S. Biallelic MED16 variants disrupt neural development and lead to an intellectual disability syndrome. J Genet Genomics. 2025 Apr 18. PMID: 40254158.
      Citations:    Fields:    
    3. Mok JW, Mackay L, Blazo M, Mizerik E, Gecz J, Carroll R, Nizon M, Rondeau S, Joubert M, Cuinat S, Deb W, Sirias FV, Weisz-Hubshman M, Ketkar S, Polak U, Tran AA, Kearney D, Neil HA, Kanca O, Wangler MF, Bellen HJ, Lee BH, Yamamoto S, Machol K, Mackay L, Blazo M, Mizerik E, Nizon M, Joubert M, Cuinat S, Deb W, Valle Sirias F, Weisz-Hubshman M, Kearney D, Hanchard NA, Lee BH, Baylor College of Medicine Center for Precision Medicine Models, Yamamoto S, Machol K. C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder. Genet Med. 2025 Apr 10; 27(7):101429. PMID: 40221893.
      Citations:    Fields:    
    4. Bereshneh AH, Andrews JC, Eberl DF, Bademci G, Borja NA, Bivona S, Undiagnosed Diseases Network, Baylor College of Medicine Center for Precision Medicine Models, Chung WK, Yamamoto S, Wangler MF, McKee S, Tekin M, Bellen HJ, Kanca O. De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms. Am J Hum Genet. 2025 Apr 03; 112(4):846-862. PMID: 40088891; PMCID: PMC12081231.
      Citations:    Fields:    
    5. Aceves-Ewing NM, Lanza DG, Marcogliese PC, Lu D, Hsu CW, Gonzalez M, Christiansen AE, Rasmussen TL, Ho AJ, Gaspero A, Seavitt J, Dickinson ME, Yuan B, Shayota BJ, Pachter S, Hu X, Day-Salvatore DL, Mackay L, Kanca O, Wangler MF, Potocki L, Rosenfeld JA, Lewis RA, Chao HT, Lee B, Lee S, Undiagnosed Diseases Network, Baylor College of Medicine Center for Precision Medicine Models, Yamamoto S, Bellen HJ, Burrage LC, Heaney JD, Yuan B. Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling. medRxiv. 2025 Mar 01. PMID: 39677486; PMCID: PMC11643287.
      Citations:    
    6. Booth KTA, Jangam SV, Chui MMC, Treat K, Graziani L, Soldano A, Ruan Y, Wan-Hei Hui J, White K, Christensen CK, Lynnes T, Yamamoto S, Kanca O, Tsang MHY, Lynch SA, Mullegama SV, Batista J, Iancu D, Joss SK, Wong SYY, Mak CCY, Kwong AKY, Bellen HJ, Conboy E, Sanges R, Leung AY, Wangler MF, Chung BHY, Vetrini F. De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome. Brain. 2025 Feb 07. PMID: 39918047.
      Citations:    Fields:    
    7. Gill S, Mandigo TR, Elmali AD, Leger BS, Yang B, Tran S, Laosuntisuk K, Lane JM, Bannister D, Aonbangkhen C, Ormerod KG, Mahama B, Schuch KN, Elya C, Akhund-Zade J, Math SR, LoRocco NC, Seo S, Maher M, Kanca O, Bebek N, Karadeniz D, Senel GB, Courage C, Lehesjoki AE, Winkelman JW, Bellen HJ, de Bivort B, Hart AC, Littleton JT, Baykan B, Doherty CJ, Melkani GC, Prober DA, Woo CM, Saxena R, Schreiber SL, Walker JA. A conserved role for ALG10/ALG10B and the N -glycosylation pathway in the sleep-epilepsy axis. medRxiv. 2024 Dec 13. PMID: 39711723; PMCID: PMC11661338.
      Citations:    
    8. Gomez VA, Kanca O, Jangam SV, Srivastav S, Andrews JC, Wangler MF, Gomez VA, Kanca O, Jangam SV, Srivastav S, Andrews JC, Wangler MF. Distinguishing PEX gene variant severity for mild, severe, and atypical peroxisome biogenesis disorders in Drosophila. bioRxiv. 2024 Nov 19. PMID: 39605732; PMCID: PMC11601393.
      Citations:    
    9. Jay KL, Gogate N, Ezell K, Andrews JC, Jangam SV, Hall PI, Pan H, Pham K, German R, Gomez V, Jellinek-Russo E, Storch E, Brain Gene Registry Consortium, Undiagnosed Diseases Network, Yamamoto S, Kanca O, Bellen HJ, Dierick H, Cogan JD, Phillips JA, Hamid R, Cassini T, Rives L, Posey JE, Wangler MF. Resolution of SLC6A1 variable expressivity in a multi-generational family using deep clinical phenotyping and Drosophila models. medRxiv. 2024 Sep 28. PMID: 39399018; PMCID: PMC11469343.
      Citations:    
    10. 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. Tau is required for glial lipid droplet formation and resistance to neuronal oxidative stress. Nat Neurosci. 2024 Oct; 27(10):1918-1933. PMID: 39187706; PMCID: PMC11809452.
      Citations:    Fields:    
    11. 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, Huang Y, Jay KL, Yen-Wen Huang A, Wan J, Jangam SV, Barel O, 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. Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 2024 Nov; 26(11):101218. PMID: 39036895; PMCID: PMC11648989.
      Citations: 1     Fields:    Translation:HumansAnimals
    12. 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. Cdk8/CDK19 promotes mitochondrial fission through Drp1 phosphorylation and can phenotypically suppress pink1 deficiency in Drosophila. Nat Commun. 2024 Apr 18; 15(1):3326. PMID: 38637532; PMCID: PMC11026413.
      Citations:    Fields:    Translation:HumansAnimalsCells
    13. 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, Galv?n NTN, Pan X, Lu S, Rosenfeld JA, Calame DG, Wangler MF, Lupski JR, Pehlivan D, Hertel PM, Chung WK, Bellen HJ, 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, Nguyen Galv?n NT, Pan X, Lu S, Rosenfeld JA, Calame DG, Wangler MF, Lupski JR, Pehlivan D, Hertel PM, Chung WK, Bellen HJ. 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. Genet Med. 2024 Jul; 26(7):101125. PMID: 38522068; PMCID: PMC11335040.
      Citations:    Fields:    Translation:HumansAnimals
    14. 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. De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. Am J Hum Genet. 2024 04 04; 111(4):742-760. PMID: 38479391; PMCID: PMC11023917.
      Citations: 2     Fields:    Translation:HumansAnimals
    15. Martelli F, Lin J, Mele S, Imlach W, Kanca O, Barlow CK, Paril J, Schittenhelm RB, Christodoulou J, Bellen HJ, Piper MDW, Johnson TK. Identifying potential dietary treatments for inherited metabolic disorders using Drosophila nutrigenomics. Cell Rep. 2024 03 26; 43(3):113861. PMID: 38416643; PMCID: PMC11037929.
      Citations: 1     Fields:    
    16. 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. Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability. Proc Natl Acad Sci U S A. 2024 Feb 27; 121(9):e2322582121. PMID: 38381787; PMCID: PMC10907268.
      Citations: 1     Fields:    Translation:HumansAnimalsCells
    17. 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 UBA5 variants correlate between in vivo and in vitro assays. Elife. 2023 Dec 11; 12. PMID: 38079206; PMCID: PMC10712953.
      Citations: 3     Fields:    Translation:HumansAnimals
    18. 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, 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 HJ. Rare 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. PMID: 37827158; PMCID: PMC10645550.
      Citations:    Fields:    Translation:HumansAnimalsCells
    19. 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 UBA5 variants correlate between in vivo and in vitro assays. medRxiv. 2023 Oct 02. PMID: 37502976; PMCID: PMC10371176.
      Citations:    
    20. 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. A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels. Nat Metab. 2023 09; 5(9):1595-1614. PMID: 37653044; PMCID: PMC11151872.
      Citations: 3     Fields:    Translation:HumansAnimalsCells
    21. Yamamoto S, Kanca O, Wangler MF, Bellen HJ. Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans. Nat Rev Genet. 2024 Jan; 25(1):46-60. PMID: 37491400.
      Citations: 4     Fields:    Translation:HumansAnimals
    22. 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, Lin WW, Auradkar A, Bhagwat P, Park S, Wan KH, Ohsako T, Takano-Shimizu T, Celniker SE, Wangler MF, Yamamoto S, Bellen HJ, Bier E. A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins. Cell Rep. 2023 08 29; 42(8):112842. PMID: 37480566; PMCID: PMC10962759.
      Citations:    Fields:    Translation:HumansAnimalsCells
    23. 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 Metab. 2023 05 02; 35(5):855-874.e5. PMID: 37084732; PMCID: PMC10160010.
      Citations: 2     Fields:    Translation:AnimalsCells
    24. 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, 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 HJ. Bi-allelic variants in INTS11 are associated with a complex neurological disorder. Am J Hum Genet. 2023 05 04; 110(5):774-789. PMID: 37054711; PMCID: PMC10183469.
      Citations: 2     Fields:    Translation:HumansAnimals
    25. Undiagnosed Diseases Network, 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. Genet Med. 2023 06; 25(6):100833. PMID: 37013900; PMCID: PMC11533975.
      Citations: 1     Fields:    Translation:HumansAnimals
    26. 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 Endocrinol Metab. 2023 02; 34(2):85-105. PMID: 36567227.
      Citations:    Fields:    Translation:HumansAnimals
    27. 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, Wangler MF, Yamamoto S, Kernohan KD, Sweetser DA, Boycott KM, Bellen HJ. The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. Am J Hum Genet. 2022 Nov 03; 109(11):2092. PMID: 36332614; PMCID: PMC9674957.
      Citations:    Fields:    
    28. 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 H, Harel T. De 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. PMID: 35234901; PMCID: PMC9523557.
      Citations:    Fields:    
    29. 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. J Cell Biol. 2022 10 03; 221(10). PMID: 36102907; PMCID: PMC9477969.
      Citations:    
    30. 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. The 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. PMID: 36067766; PMCID: PMC9606386.
      Citations:    
    31. 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. Hum Mol Genet. 2022 08 23; 31(16):2751-2765. PMID: 35348658; PMCID: PMC9402236.
      Citations:    Fields:    
    32. 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. 2022 06 20; 11. PMID: 35723254; PMCID: PMC9239680.
      Citations:    Fields:    Translation:AnimalsCells
    33. 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, de Jonghe P, Yamamoto S, Weckhuysen S, Bellen HJ. De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies. Brain. 2022 06 03; 145(5):1684-1697. PMID: 34788397; PMCID: PMC9166542.
      Citations: 1     Fields:    Translation:Humans
    34. Wang Y, Lobb-Rabe M, Ashley J, Chatterjee P, Anand V, Bellen HJ, Kanca O, Carrillo RA. 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). PMID: 35502740; PMCID: PMC9188756.
      Citations:    Fields:    Translation:AnimalsCells
    35. 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, Huang MC, Longley CM, Chao HT, Chung HL, Haelterman NA, Kanca O, Manivannan SN, Rossetti LZ, German RJ, Gerard A, Schwaibold EMC, Guerrini R, Vetro A, England E, Murali CN, Barakat TS, van Dooren MF, Wilke M, van Slegtenhorst M, Sabatier I, Brownstein CA, Madden JA, Agrawal PB, Brugger M, Leiz S, Delanne J, Sukarova-Angelovska E, Trajkova S, Rosenhahn E, Strehlow V, Platzer K, Pavinato L, Rosenfeld JA, Marom R, Wangler MF, Yamamoto S, Fehr S, Lesca G, Chatron N, Keren B, Courtin T, Perrin L, Roser T, Mau-Them FT, Keller R, Brusco A. Drosophila 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. PMID: 35294868; PMCID: PMC8983390.
      Citations: 2     Fields:    Translation:HumansAnimals
    36. 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, Yamamoto S, Nelson SF, Might M, Meyer KC, Yeo NC, Bellen HJ. Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. Sci Adv. 2022 01 21; 8(3):eabl5613. PMID: 35044823; PMCID: PMC8769555.
      Citations: 1     Fields:    Translation:HumansAnimalsCells
    37. 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, 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 QK, Cogn? B, Isidor B. TNPO2 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. PMID: 34314705; PMCID: PMC8456166.
      Citations: 4     Fields:    Translation:HumansAnimalsCells
    38. Ravenscroft 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, 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 HJ, Kl?ckner C. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genet Med. 2021 10; 23(10):1889-1900. PMID: 34113007; PMCID: PMC8487929.
      Citations: 4     Fields:    Translation:HumansAnimals
    39. 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, Yamamoto S, Sweetser DA, Bellen HJ. De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Hum Mol Genet. 2020 06 03; 29(9):1568-1579. PMID: 32356556; PMCID: PMC7268787.
      Citations: 11     Fields:    Translation:HumansCells
    40. 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. Curr Protoc Mol Biol. 2020 Mar; 130(1):e112. PMID: 31869524; PMCID: PMC7213786.
      Citations: 4     Fields:    Translation:AnimalsCells
    41. 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, Hu Y, Spradling AC, Mohr SE, Perrimon N, Bellen HJ. An efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms. Elife. 2019 11 01; 8. PMID: 31674908; PMCID: PMC6855806.
      Citations: 34     Fields:    Translation:AnimalsCells
    42. Kanca O, Bellen HJ. La CaSSA da Drosophila: A Versatile Expansion of the Tool Box. Neuron. 2019 10 23; 104(2):177-179. PMID: 31647888.
      Citations:    Fields:    Translation:AnimalsCells
    43. 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. De 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. PMID: 31491411; PMCID: PMC6732524.
      Citations: 4     Fields:    
    44. 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. De 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. PMID: 31327508; PMCID: PMC6699142.
      Citations: 16     Fields:    Translation:HumansAnimalsCells
    45. Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, 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 LDM, Mart?nez-Agosto JA. IRF2BPL Is Associated with Neurological Phenotypes. Am J Hum Genet. 2018 09 06; 103(3):456. PMID: 30193138; PMCID: PMC6128320.
      Citations: 4     Fields:    
    46. 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 Drosophila. Elife. 2018 08 09; 7. PMID: 30091705; PMCID: PMC6095692.
      Citations: 25     Fields:    Translation:AnimalsCells
    47. Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, 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 LDM, Mart?nez-Agosto JA. IRF2BPL Is Associated with Neurological Phenotypes. Am J Hum Genet. 2018 08 02; 103(2):245-260. PMID: 30057031; PMCID: PMC6081494.
      Citations: 25     Fields:    
    48. 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. A gene-specific T2A-GAL4 library for Drosophila. Elife. 2018 03 22; 7. PMID: 29565247; PMCID: PMC5898912.
      Citations: 71     Fields:    Translation:Animals
    49. Kanca O, Bellen HJ, Schnorrer F. Gene Tagging Strategies To Assess Protein Expression, Localization, and Function in Drosophila. Genetics. 2017 10; 207(2):389-412. PMID: 28978772; PMCID: PMC5629313.
      Citations: 26     Fields:    Translation:Animals
    50. Bieli D, Kanca O, Hamaratoglu F, Gohl D, Schedl P, Affolter M, Slattery M, Requena D, M?ller M, Estella C. Establishment of a Developmental Compartment Requires Interactions between Three Synergistic Cis-regulatory Modules. PLoS Genet. 2015 Oct; 11(10):e1005376. PMID: 26468882; PMCID: PMC4607503.
      Citations: 11     Fields:    Translation:AnimalsCells
    51. Denes AS, Kanca O, Affolter M. A cellular process that includes asymmetric cytokinesis remodels the dorsal tracheal branches in Drosophila larvae. Development. 2015 May 15; 142(10):1794-805. PMID: 25968315.
      Citations: 4     Fields:    Translation:Animals
    52. Bieli D, Kanca O, Gohl D, Denes A, Schedl P, Affolter M, M?ller M. The Drosophila melanogaster Mutants apblot and apXasta Affect an Essential apterous Wing Enhancer. G3 (Bethesda). 2015 Apr 02; 5(6):1129-43. PMID: 25840432; PMCID: PMC4478543.
      Citations: 8     Fields:    Translation:AnimalsCells
    53. Kanca O, Ochoa-Espinosa A, Affolter M. IV. Tools and methods for studying cell migration and cell rearrangement in tissue and organ development. Methods. 2014 Jun 15; 68(1):228-32. PMID: 24631575.
      Citations:    Fields:    Translation:AnimalsCells
    54. Kanca O, Caussinus E, Denes AS, Percival-Smith A, Affolter M. Raeppli: a whole-tissue labeling tool for live imaging of Drosophila development. Development. 2014 Jan; 141(2):472-80. PMID: 24335257.
      Citations: 24     Fields:    Translation:Animals
    55. Caussinus E, Kanca O, Affolter M. Protein 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. PMID: 24510595.
      Citations: 9     Fields:    Translation:Animals
    56. Caussinus E, Kanca O, Affolter M. Fluorescent fusion protein knockout mediated by anti-GFP nanobody. Nat Struct Mol Biol. 2011 Dec 11; 19(1):117-21. PMID: 22157958.
      Citations: 199     Fields:    Translation:HumansAnimalsCells
    57. Mitchell JS, Kanca O, McIntyre BW. 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. PMID: 11884440.
      Citations: 18     Fields:    Translation:HumansCells
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