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Stack of Books

Publications

Publications from the Yamamoto lab and earlier works by the PI

  1. Yang SA, Salazar JL, Li-Kroeger D†, Yamamoto S†. (2022) Functional studies of genetic variants associated with human diseases in Notch signaling-related genes using Drosophila. Methods Mol. Biol. 2472:235-276. PMID: 35674905. PMCID: N/A (in progress) (†corresponding authors).

  2. Yamaguchi M, Yamamoto S (2022) Role of Drosophila in Human Disease Research 2.0. Int J Mol Sci. 23(8):4203. PMID: 35457020. PMCID: PMC9027098.

  3. Barish S, Senturk M, Schoch K, Minogue AL, Lopergolo D, Fallerini C, Harland J, Seemann JH, Stong N, Kranz PG, Kansagra S, Mikati MA, Jasien J, El-Dairi M; Undiagnosed Diseases Network, Galluzzi P, Ariani F, Renieri A, Mari F, Wangler MF, Arur S, Jiang YH, Yamamoto S, Shashi V, Bellen HJ. (2022) The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder. Hum Mol Genet. doi: 10.1093/hmg/ddac085 (Online ahead of print). PMID: 35405010. PMCID: N/A (in progress).

  4. 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, 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 S† (2022) Drosophila functional screening of de novo variants in autism spectrum disorders uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases. Cell Rep. 38(11):110517. PMID: 35294868. PMCID: PMC8983390. (*equal contribution, †corresponding authors).

  5. Li H, Janssens J, De Waegeneer M, Kolluru SS, Davie K, Gardeux V, Saelens W, David FPA, Brbić M, Spanier K, Leskovec J, McLaughlin CN, Xie Q, Jones RC, Brueckner K, Shim J, Tattikota SG, Schnorrer F, Rust K, Nystul TG, Carvalho-Santos Z, Ribeiro C, Pal S, Mahadevaraju S, Przytycka TM, Allen AM, Goodwin SF, Berry CW, Fuller MT, White-Cooper H, Matunis EL, DiNardo S, Galenza A, O'Brien LE, Dow JAT; FCA Consortium§, Jasper H, Oliver B, Perrimon N, Deplancke B, Quake SR, Luo L, Aerts S, Agarwal D, Ahmed-Braimah Y, Arbeitman M, Ariss MM, Augsburger J, Ayush K, Baker CC, Banisch T, Birker K, Bodmer R, Bolival B, Brantley SE, Brill JA, Brown NC, Buehner NA, Cai XT, Cardoso-Figueiredo R, Casares F, Chang A, Clandinin TR, Crasta S, Desplan C, Detweiler AM, Dhakan DB, Donà E, Engert S, Floc'hlay S, George N, González-Segarra AJ, Groves AK, Gumbin S, Guo Y, Harris DE, Heifetz Y, Holtz SL, Horns F, Hudry B, Hung RJ, Jan YN, Jaszczak JS, Jefferis GSXE, Karkanias J, Karr TL, Katheder NS, Kezos J, Kim AA, Kim SK, Kockel L, Konstantinides N, Kornberg TB, Krause HM, Labott AT, Laturney M, Lehmann R, Leinwand S, Li J, Li JSS, Li K, Li K, Li L, Li T, Litovchenko M, Liu HH, Liu Y, Lu TC, Manning J, Mase A, Matera-Vatnick M, Matias NR, McDonough-Goldstein CE, McGeever A, McLachlan AD, Moreno-Roman P, Neff N, Neville M, Ngo S, Nielsen T, O'Brien CE, Osumi-Sutherland D, Özel MN, Papatheodorou I, Petkovic M, Pilgrim C, Pisco AO, Reisenman C, Sanders EN, Dos Santos G, Scott K, Sherlekar A, Shiu P, Sims D, Sit RV, Slaidina M, Smith HE, Sterne G, Su YH, Sutton D, Tamayo M, Tan M, Tastekin I, Treiber C, Vacek D, Vogler G, Waddell S, Wang W, Wilson RI, Wolfner MF, Wong YE, Xie A, Xu J, Yamamoto S, Yan J, Yao Z, Yoda K, Zhu R, Zinzen RP (2022) Fly Cell Atlas: A single-nucleus transcriptomic atlas of the adult fruit fly. Science. 375(6584):eabk2432. PMID: 35239393. PMCID: PMC8944923.

  6. Harnish JM,  Li L,  Rogic S,  Poirier-Morency G,  Kim S-Y, Undiagnosed Diseases Network,  Boycott KM, Wangler MF, Bellen HJ,  Hieter P,  Pavlidis P, Liu Z, Yamamoto S† (2022) ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research. Hum Mutat. 43(6): 743-759. PMID: 35224820. PMCID: PMC9133126. (†corresponding author).

  7. Marcogliese PC, Dutta D, Ray SS, Dang NDP, Zuo Z, Wang Y, Lu D, Fazal F, Ravenscroft TA, Chung H, Kanca O, Wan JJ, Douine ED, Undiagnosed Diseases Network, Pena LDM, Yamamoto S, Nelson SF, Might M, Meyer KC, Yeo NC, Bellen HJ (2022) Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. Sci Adv. 8(3):eabl5613. PMID: 35044823. PMCID: PMC8769555.

  8. Andrews JC, Wangler MF, Yamamoto S, Posey JE (2022) Advances in Next-Generation Sequencing Technologies and Functional Investigation of Candidate Variants in Neurological and Behavioral Disorders. Encyclopedia of Behavioral Neuroscience, 2nd edition (Academic Press). ISBN: 9780128196410 (Book Chapter). https://doi.org/10.1016/B978-0-12-819641-0.00145-6.

  9. Salazar JL, Yang SA, Lin YQ, Li-Kroeger D, Marcogliese PM, Deal SL, Neely GG, Yamamoto S† (2021) TM2D genes regulate Notch signaling and neuronal function in Drosophila. PLoS Genet. 17(12):e1009962. PMID: 34905536. PMCID: PMC8714088. (†corresponding author).

  10. Manivannan SN, Roovers J, Smal N, Mefford H, Turkdogan D, Roelens F, Kanca O, Chung HL, MAE working group of EuroEPINOMICS RES Consortium, de Jonghe P, Yamamoto S, Weckhuysen S, Bellen HJ (2021) De novo FZR1 loss-of-function variants cause developmental delay and epileptic encephalopathies. Brain. 145(5):1684-1697. PMID: 34788397. PMCID: PMC9166542.

  11. Goodman LD, Cope H, Nil Z, Ravenscroft TA, Charng WL, Lu S, Tien AC, Pfundt R, Koolen DA, Haaxma CA, Kanca O, Moulton MJ, Pfundt R, 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, Cogné 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 QKG (2021) TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. Am J Hum Genet. 108(9):1669-1691. PMID: 34314705. PMCID: PMC8456166.

  12. Ravenscroft TA, Phillips JB, Fieg E, Bajikar SS, Peirce J, Wegner J, Luna AA, Fox EJ, Yan YL, Rosenfeld JA, Zirin J, Kanca O, UDN, Benke PJ, Cameron ES, Strehlow V, Platzer K, Osmond M, Licata T, Rojas S, Dyment D, Chong JSC, Lincoln S, Stoler JM, Postlethwait J, Wangler MF, Yamamoto S, Krier J, Westerfield M, Bellen HJ (2021). Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genet Med. 23(10)1889-. PMID: 34113007. PMCID: PMC8487929.

  13. Luo X, Schoch K, Jangam SV, Bhavana VH, Graves HK, Kansagra S, Jasien J, Stong N, Keren B, Mignot C, Ravelli C, UDN, Bellen HJ, Wangler MF, Shashi V†, Yamamoto S† (2021) Rare deleterious de novo missense variants in RNF2/RING2 are associated with a neurodevelopmental disorder with unique clinical features. Hum Mol Genet. 30(14):1283-1292. PMID: 33864376. PMCID: PMC8255132. (†corresponding authors).

  14. Baldridge D, Wangler MF, Bowman AN, Yamamoto S, Undiagnosed Diseases Network, Schedl T, Pak SC, Postlethwait JH, Solnica-Krezel L, Bellen HJ, Westerfield M (2021) Model Organisms Contribute to Diagnosis and Discovery in the Undiagnosed Diseases Network: the Current State and a Future Vision. Orphanet J Rare Dis. 16(1): 206. PMID: 33962631. PMCID: PMC8103593.

  15. Harnish MJ, Link N, Yamamoto S† (2021) Drosophila as a model for infectious diseases. Int J Mol Sci. 22: 2724. PMID: 33800390. PMCID. PMC7962867. (†corresponding author).

  16. Barish S, Barakat TS, Michel BC, Mashtalir N, Phillips JB, Valencia AM, Ugur B, Wegner J, Scott TM, Bostwick B; Undiagnosed Diseases Network, Murdock DR, Dai H, Perenthaler E, Nikoncuk A, van Slegtenhorst M, Brooks AS, Keren B, Nava C, Mignot C, Douglas J, Rodan L, Nowak C, Ellard S, Stals K, Lynch SA, Faoucher M, Lesca G, Edery P, Engleman KL, Zhou D, Thiffault I, Herriges J, Gass J, Louie RJ, Stolerman E, Washington C, Vetrini F, Otsubo A, Pratt VM, Conboy E, Treat K, Shannon N, Camacho J, Wakeling E, Yuan B, Chen CA, Rosenfeld JA, Westerfield M, Wangler M, Yamamoto S, Kadoch C, Scott DA, Bellen HJ (2020). BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. Am J Hum Genet. 107: 1096-1112. PMID: 33232675. PMCID: PMC7820627.

  17. Salazar JL, Yang SA, Yamamoto S† (2020) Post-Developmental Roles of Notch Signaling in the Nervous System. Biomolecules. 10: 985. PMID: 32630239. PMCID: PMC7408554. (†corresponding author).

  18. Dutta D, Briere LC, Kanca O, Marcogliese PC, Walker MA, High FA, Vanderver A, Vögtle FN, Krier J, Carmichael N, Callahan C, Taft RJ, Simons C, Guy Helman G, The 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. Hum Mol Genet. 29: 1568-1579. PMID: 32356556. PMCID: PMC7268787.

  19. Chung HL, Mao X, Wang H, Park YJ, Marcogliese PC, Rosenfeld JA, Burrage LC, Liu P, Murdock DR, Yamamoto S, Wangler MF; Undiagnosed Diseases Network, Chao HT, Long H, Feng L, Bacino CA, Bellen HJ, Xiao B (2020) De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. Am J Hum Genet. 106: 717-725. PMID: 32330417. PMCID: PMC7212481.

  20. Chung HL, Wangler MF, Marcogliese PC, Jo J, Ravenscroft TA, Sadeghzadeh S, Li-Kroeger D,  Schmidt R, Pestronk A, Rosenfeld JA,  Burrage L, Herndon MJ, Undiagnosed Diseases Network,  Lee B, Moser A, Jones R, Watkins P, Yoo T, Mar S, Bucelli,  Choi M, Yamamoto S, Lee HK, Chae JH, Vogel TP, Bellen HJ (2020) Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms. Neuron. 106: 589-606. PMID: 32169171. PMCID: PMC7289150.

  21. Yamamoto S† (2020) Making sense out of missense mutations: Mechanistic dissection of Notch receptors through structure-function studies in Drosophila. Dev Growth Differ. 62:15-34. PMID: 31943162. PMCID: PMC7401704. (†corresponding author).

  22. Das P, Salazar JL, Li-Kroeger D, Yamamoto S, Nakamura M, Sasamura T, Inaki M, Masuda W, Kitagawa M, Yamakawa T, Matsuno K (2020) Maternal almondex, a neurogenic gene, is required for proper subcellular Notch distribution in early Drosophila embryogenesis. Dev Growth Differ. 62:80-93. PMID: 31782145, PMCID: N/A.

  23. Graves HK, Jangam S, Tan KL, Pignata A, Seto ES, Yamamoto S†, Wangler MF† (2020) A genetic screen for genes that impact peroxisomes in Drosophila identifies candidate genes for human disease. G3 (Bethesda). 10:69-77. PMID: 31767637, PMCID: PMC6945042. (†corresponding authors).

  24. Bellen HJ†, Wangler MF, Yamamoto S† (2019) The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases. Hum Mol Genet. 28(R2):R207-R214. PMID: 31227826, PMCID: PMC6872428. (†corresponding authors).

  25. 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 (2019) An efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms. eLife. 8:e51539. PMID: 31674908, PMCID: PMC6855806.

  26. Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Ijntema H, Long M, Zhao W, Hu Z, Colson C, Nicolas R, Schwartz C, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Keren B, Afenjar A, Zhu B, Bai B, Stankiewicz P, Herman K, University of Washington Center for Mendelian Genomics, Mercimek-Andrews S, Juusola J, Wilfert AB, Jamra RA, Büttner B, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss MM, Waisfisz Q, Bijlsma EK, Hoffer MJV, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A, Eichler EE (2019) Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nat Commun. 10(1):4679. PMID: 31616000, PMCID: PMC6794285.

  27. Wang J, Mao D, Fazal F, Kim SY, Yamamoto S, Bellen H, Liu Z (2019) Using MARRVEL v1.2 for Bioinformatics Analysis of Human Genes and Variant Pathogenicity. Curr Protoc Bioinformatics. 67(1):e85. PMID: 31524990. PMCID: PMC6750039.

  28. Harnish JM*, Deal SL*, Undiagnosed Diseases Network, Chao HT, Wangler MF, Yamamoto S† (2019) In vivo functional study of disease-associated rare human variants using Drosophila. J Vis Exp. (150): 10.3791/59658. PMID: 31498321. PMCID: PMC7418855. (*equal contributions, †corresponding author).

  29. Wang J, Undiagnosed Diseases Network, Liu Z, Bellen HJ, Yamamoto S† (2019) Navigating MARRVEL, a web-based tool that integrates human genomics and model organism genetics information. J Vis Exp (150):10.3791/59542. PMID: 31475990, PMCID: PMC7401700. (†corresponding author).

  30. 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 and Cerebellar hypoplasia. Am J Hum Genet. 105(2):413-424. PMID: 31327508, PMCID: PMC6699142.

  31. Deal SL, Yamamoto S† (2018) Unraveling novel mechanisms of neurodegeneration through a large-scale forward genetic screen in Drosophila. Front Genet. 9:700. PMID: 30693015, PMCID: PMC6339878. (†corresponding author).

  32. Splinter K, Adams D, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng C, Esteves C, Gahl W, Rizwan Hamid, Jacob H, Kikani B, Koeller D, Kohane I, Loscalzo J, Luo X, Members of the Undiagnosed Diseases Network, McCray A, Metz TO, Mulvihill JJ, Nelson SF, Palmer C, Phillips JA III, Pick L, Postlethwait J, Shashi V, Sweetser D, Tifft C, Walley N, Wangler MF, Westerfield M, Wheeler M, Wise A, Worthey E,  Yamamoto S, Ashley EA, Undiagnosed Diseases Network (2018) Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 379:2131-2139. PMID: 30304647, PMCID: PMC6481166.

  33. Deal SL, Yamamoto S† (2018) Unweaving the role of nuclear Lamins in neural circuit integrity. Cell Stress. 2 (9): 219-224. PMID: 31223139, PMCID: PMC6558928. (†corresponding author).

  34. Albrecht NE, Alevy J, Jiang D, Burger CA, Liu BI, Li F, Wang J, Kim SY, Hsu CW, Kalaga S, Udensi U, Asomugha C, Bohat R, Gaspero A, Justice MJ, Westenskow PD, Yamamoto S, Seavitt JR, Beaudet AL, Dickinson ME, Samuel MA (2018) Rapid and Integrative Discovery of Retina Regulatory Molecules. Cell Rep. 24(9):2506-2519. PMID: 30157441. PMCID: PMC6170014.

  35. 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, Steyaert W, Dermaut B, Poppe B, Chung H-L, Zuo Z, Lee P-T, 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) Loss-of-function in IRF2BPL is associated with neurological phenotypes. Am J Hum Genet. 103(2):245-260. PMID: 30057031, PMICD: PMC6081494.

  36. Liu N, Schoch K, Luo X, Pena L, Bhavana VH, Kukolich M, Stringer S, Powis Z, Radtke K, Mroske C, Deak K, McDonald MT, McConkie-Rosell A, Markert ML, Kranz P, Stong N, Need AC, Bick D, Amaral MD, Worthey EA, Levy S, UDN, Wangler MF, Bellen HJ, Shashi V†, Yamamoto S† (2018) Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.  Hum. Mol Genet. 27(14):2454-2465. PMID: 29726930, PMCID: PMC6030957. (†corresponding authors).

  37. 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. 22(7): e35574. PMID: 29565247, PMCID: PMC5898912.

  38. Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Frésard L, Waggott D, Zink EM,  Kim Y-M, Heyman HM, Stratton KG, Webb-Robertson BJM, Undiagnosed Diseases Network, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller D, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT (2018) Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. Am J Hum Genet. 102(3):494-504. PMID: 29478781, PMCID: PMC6117612.

  39. Landrock KK, Sullivan P, Martini-Stoica H, Goldstein DS, Graham BH, Yamamoto S, Bellen HJ, Gibbs RA, Chen R, D'Amelio M, Stoica G (2018) Pleiotropic Neuropathological and Biochemical Alterations Associated with Myo5a Mutation in a Rat Model. Brain Res. 1679: 155-170. PMID: 29217155. PMCID: PMC7696654.

  40. Salazar JL, Yamamoto S† (2018) Integration of Drosophila and Human Genetics to understand Notch signaling related diseases. Adv Exp Med Biol. 1066:141-185. PMID: 30030826. PMCID: PMC6233323.  (†corresponding author).

  41. Wangler MF*, Yamamoto S*, Chao H-T, Posey JE, Westerfield M, Postlethwait J, Members of the UDN, Hieter P, Boycott KM, Campeau PM, Bellen HJ (2017) Model organisms in undiagnosed rare diseases. Genetics. 207(1):9-27. PMID: 28874452. PMCID: PMC5586389 (*equal contribution).

  42. Luo X, Rosenfeld JA, Yamamoto S, Harel T, Zuo Z, Hall M, Wierenga KJ, Pastore MT, Bartholomew D, Delgado MR, Rotenberg J, Lewis RA, Emrick L, Bacino CA, Eldomery MK, Coban Akdemir Z, Xia F, Yang Y, Lalani SR, Lotze T, Lupski JR, Lee B, Bellen HJ, Wangler MF; Members of the UDN (2017) Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet. 13:e1006905. PMID: 28742085. PMCID: PMC5557584.

  43. Cook M, Cazin C, Amoyel M, Yamamoto S, Bach E, Nystul T (2017) Neutral Competition for Drosophila Follicle and Cyst Stem Cell Niches Requires Vesicle Trafficking Genes. Genetics. 206(3):1417-1428. PMID: 28512187. PMCID: PMC5500140.

  44. Wang J, Al-Ouran R, Hu Y, Kim S-Y, Wan Y-W, Wangler MF, Yamamoto S, Chao H-T, Comjean A, Mohr SE, Members of UDN, Perrimon N, Liu Z, Bellen HJ (2017) MARRVEL: Integration of human and model organism genetic resources to facilitate functional annotation of the human genome. Am J Hum Genet. 100:843-853. PMID: 28502612. PMCID: PMC5670038.

  45. Chao H-T, Davids M, Burke E, Pappas JG, Rosenfeld JA, McCarty A, Davis T, Wolfe L, Toro C, Tifft C, Xia F, Johnson TK, Warr CG, Members of the UDN, Yamamoto S, Adams D, Markello TC, Gahl WA, Bellen HJ, Wangler MF, Malicdan MCV (2017) A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. Am J Hum Genet. 100(1):128-137. PMID: 28017372. PMICD: PMC5223093.

  46. Yoon WH, Sandoval H, Nagarkar-Jaiswal S, Jaiswal M, Yamamoto S, Haelterman NA, Putluri N, Putluri V, Sreekumar A, Tos T, Aksoy A, Donti T, Graham BH, Ohno M, Nishi E, Hunter J, Muzny DM, Carmichael J, Shen J, Arboleda VA, Nelson SF, Wangler MF, Karaca E, Lupski JR, Bellen HJ (2017) Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration. Neuron. 93(1):115-131. PMID: 28017472. PMCID: PMC5242142.

  47. Jakobsdottir J*, van der Lee SJ,*, Bis JC*, Chouraki V*, Li-Kroeger D*, Yamamoto S*, Grove ML, Naj A, Vronskaya M, Salazar JL, DeStefano AL, Brody JA, Smith AV, Amin N, Sims R, Ibrahim-Verbaas CA, Choi SH, Satizabal CL, Lopez OL, Beiser A, Ikram MA, Garcia ME, Hayward C, Varga TV, Ripatti S, Franks PW, Hallmans G, Rolandsson O, Jansson JH, Porteous DJ, Salomaa V, Eirkisdottir G, Rice KM, Bellen HJ, Levy D, Uitterlinden AG, Emilsson V, Rotter JI, Aspelund T, Cohorts for Heart and Aging Research in Genomic Epidemiology consortium, Alzheimer’s Disease Genetic Consortium, Genetic and Environmental Risk in Alzheimer’s Disease consortium, O’Donnell CJ, Fitzpatrick AL, Launer LJ, Hofman A, Wang LS, Williams J, Schellenberg GD, Boerwinkle E, Psaty BM, Seshadri S, Shulman JM, Gudnason V, van Duijn CM (2016) Rare loss-of-function variant in TM2D3 is associated with late-onset Alzheimer’s disease. PLoS Genet. 12(10): e1006327 PMID: 27764101. PMCID: PMC5072721. (*equal contribution).

  48. Chen K, Lin G, Haelterman NA, Duraine L, Li Z, Graham BH, Jaiswal M, Yamamoto S, Bellen HJ (2015) Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and Pdk1/Mef2 activation, leading to neurodegeneration. eLife. 5:e16043. PMID: 27343351. PMCID: PMC4956409.

  49. Li T, Giagtzoglou N, Fan J, Jia J, Yamamoto S, Charng W-L, Jaiswal M, Sandoval H, Bayat V, Xiong B, Zhang K, David G, Wei W, Lewis MT, Groves AK, Bellen HJ (2016) Ubr3, a Novel Modulator of Hh Signaling Affects the Degradation of Costal-2 and Kif7 through Poly-ubiquitination. PLoS Genet. 12(5):e1006054. PMID: 27195754. PMCID: PMC4873228.

  50. David-Morrison G, Xu Z, Rui YN, Charng WL, Jaiswal M, Yamamoto S, Xiong B, Zhang K, Sandoval H, Duraine L, Zhang S, Bellen HJ (2016) WAC regulates mTOR activity through the TTT-Pontin/Reptin complex. Dev Cell. 36(2):139-151. PMID: 26812014. PMCID: PMC4730548.

  51. Bellen HJ, Yamamoto S (2015) Morgan’s legacy: fruit flies and the functional annotation of conserved genes. Cell. 163(1):12-14. PMID: 26406362. PMCID: PMC4783153.

  52. Jaiswal M, Haelterman NA, Sandoval H, Xiong B, Donti T, Kalsotra A, Yamamoto S, Cooper TA, Graham BH, Bellen HJ (2015) Impaired mitochondrial energy production causes light induced photoreceptor degeneration independent of oxidative stress. PLoS Biol. 13(7):e1002197. PMID: 26176594. PMCID: PMC4503542.

  53. Tian X, Gala U, Zhang Y, Shang W, Nagarkar-Jaiswal S, di Ronza A, Jaiswal M, Yamamoto S, Sandoval H, Duraine L, Sardiello M, Sillitoe RV, Venkatachalam K, Fan H, Bellen HJ, Tong C (2015) A voltage gated calcium channel regulates lysosomal fusion with endosomes and autophagosomes and is required for neuronal homeostasis. PLoS Biol. 13(3):e1002103. PMID: 25811491. PMCID: PMC4374850.

  54. Wangler MF*, Yamamoto S*, Bellen HJ (2015) Fruit Flies in Biomedical Research. Genetics. 199(3):639-53. . PMID: 25624315. PMCID: PMC4349060. (*equal contribution).

  55. Liu L, Zhang K, Sandoval H, Yamamoto S, Jaiswal M, Sanz E, Li Z, Hui J, Graham BH, Quintana A, Bellen HJ (2015) Glial Lipid Droplets and ROS Induced by Mitochondrial Defects Promote Neurodegeneration. Cell. 160(1-2):177-190. PMID: 25594180. PMCID: PMC4377295.

  56. Sandoval H, Yao CK, Chen K, Jaiswal M, Donti T, Lin YQ, Bayat V, Xiong B, Zhang K, David G, Charng W-L, Yamamoto S, Duraine L, Graham BH, Bellen HJ (2014) Mitochondrial fusion but not fission regulates larval growth and synaptic development through steroid hormone production. eLife. 3:e03558. PMID: 25313867. PMCID: PMC4215535.

  57. Haelterman NA, Jiang L, Li Y, Bayat V, Sandoval H, Ugur B, Tan KL, Zhang K, Bei D, Xiong B, Charng W-L, Busby T, Jawaid A, David G, Jaiswal M, Venken KJT, Yamamoto S, Chen R, Bellen HJ (2014) Large-scale identification of chemically induced mutations in Drosophila melanogaster. Genome Res. 24(10):1707-1718. PMID: 25258387. PMCID: PMC4199363.

  58. Yamamoto S*, Jaiswal M*, Charng WL, Gambin T, Karaca E, Mirzaa G, Wiszniewski W, Sandoval H, Haelterman NA, Xiong B, Zhang K, Bayat V, David G, Li T, Chen K, Gala U, Harel T, Pehlivan D, Penney S, Vissers LE, de Ligt J, Jhangiani SN, Xie Y, Tsang SH, Parman Y, Sivaci M, Battaloglu E, Muzny D, Wan YW, Liu Z, Lin-Moore AT, Clark RD, Curry CJ, Link N, Schulze KL, Boerwinkle E, Dobyns WB, Allikmets R, Gibbs RA, Chen R, Lupski JR, Wangler MF, Bellen HJ (2014) A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 159(1):200-214 . PMID: 25259927, PMCID: PMC4298142. (*equal contribution).

  59. Charng W-L, Yamamoto S, Bellen HJ (2014) Shared mechanisms between Drosophila peripheral nervous system development and human neurodegenerative diseases. Current Opinion in Neurobiology, 27:158-164. PMID: 24762652, PMCID: PMC4122633.

  60. Wang S, Tan KL, Agosto MA, Xiong B, Yamamoto S, Sandoval H, Jaiswal M, Bayat V, Zhang K, Charng W-L, David G, Duraine L, Venkatachalam K, Wensel TG, Bellen HJ (2014) The retromer complex is required for rhodopsin recycling and its loss leads to photoreceptor degeneration. PLoS Biol. 12(4):e1001847. PMID: 24781186, PMCID: PMC4004542.

  61. Charng W.-L, Yamamoto S, Jaiswal M, Bayat V, Xiong B, Zhang K, Sandoval H, David G, Gibbs S, Lu H.-C, Chen K, Giagtzoglou N, Bellen HJ (2014) Drosophila Tempura, a novel protein prenyltransferase-alpha subunit, regulates Notch signaling via Rab1 and Rab11. PLoS Biol. 12(1): e1001777. PMID: 24492843. PMCID: PMC3904817.

  62. Yamamoto S†, Seto ES (2014) Dopamine dynamics and signaling in Drosophila: an overview of genes, drugs and behavioral paradigms. Experimental Animals, 63:107-119. PMID: 24770636, PMCID: PMC4160991. (†corresponding author).

  63. Yamamoto S†, Schulze KL, Bellen HJ† (2014) Introduction to Notch signaling. Methods in Molecular Biology, 1187:1-14. PMID: 25053477, PMCID: N/A. (†corresponding authors).

  64. Yamamoto S, Bellen HJ (2014) Preface: Notch Signaling. Methods in Molecular Biology, 1187:v. PMID: 25187920, PMCID: N/A.

  65. Giagtzoglou N, Li T, Yamamoto S, Bellen HJ (2013) dEHBP1 regulates Scabrous secretion during Notch mediated lateral inhibition. J Cell Sci. 126(16):3686-3696. PMID: 23788431. PMCID: PMC3744027.

  66. Yamamoto S, Bayat B, Bellen HJ, Tan C (2013) Protein Phosphatase 1ß limits ring canal constriction during Drosophila germline cyst formation. PLoS One. 8(7):e70502. PMID: 23936219, PMCID: PMC3723691.

  67. Zhang K, Li Z, Jaiswal M, Bayat V, Xiong B, Sandoval H, Charng W-L, David D, Haueter C, Graham BH, Yamamoto S, Bellen HJ (2013) The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit. J Cell Biol. 200(6):807-820. PMID: 23509070, PMCID: PMC3601355.

  68. Xiong B, Bayat V, Jaiswal M, Zhang K, Sandoval H, Charng W-L, Li T, David G, Haueter C, Yamamoto S, Bellen HJ (2012) Crag, a GEF for Rab11, is required for rhodopsin trafficking and the maintenance of Drosophila photoreceptor cells. PLoS Biol. 10(12): e1001438. PMID: 23226104, PMCID: PMC3514319.

  69. Yamamoto S, Charng W-L, Rana NA, Kakuda S, Jaiswal M, Bayat V, Xiong B, Zhang K, Sandoval H, David G, Wang H, Haltiwanger RS, Bellen HJ (2012) A mutation in EGF repeat of Notch discriminates between Serrate/Jagged and Delta ligand families. Science. 338(6111): 1229-1232. PMID: 23197537, PMCID: PMC3663443.

  70. Giagtzoglou N*, Yamamoto S*, Zitserman D, Graves HK, Schulze KL, Wang H, Klein H, Bellen HJ (2012) dEHBP1 controls exocytosis and recycling of Delta during asymmetric divisions. J Cell Biol. 196(1): 65-83 . PMID: 22213802, PMCID: PMC3255984. (*equal contribution).

  71. Yamamoto S*, Charng W-L*, Bellen HJ (2010) Endocytosis and intracellular trafficking of Notch and its ligands.  Curr Top Dev Biol. 92: 165-200. PMID: 20816395, PMCID: PMC6233319. (*equal contribution).

  72. Andrews HK, Giagtzoglou N, Yamamoto S, Schulze KL, Bellen HJ (2009) Sequoia regulates cell fate decisions in the external sensory organs of adult Drosophila.  EMBO Rep. 10(6):636-641. PMID: 19444309, PMCID: PMC2711842.

  73. Takahashi Y, Isuzugawa K, Murase Y, Imai M, Yamamoto S, Iizuka M, Akira S, Bahr GM, Momotani E, Hori M, Ozaki H, Imakawa K (2006) Up-regulation of NOD1 and NOD2 through TLR4 and TNF-alpha in LPS-treated murine macrophages.  J Vet Med Sci. 68(5):471-478. PMID: 16757890, PMCID: N/A.

  74. Yamamoto S, Isuzugawa K, Takahashi Y, Murase Y, Iwata M, Arisawa T, Nakano H, Nishimura N, Yamato S, Ohta M, Ina K, Murata T, Hori M, Ozaki H, Imakawa K (2005) Intestinal gene expression in TNBS treated mice using genechip and subtractive cDNA analysis: implications for Crohn's disease.  Biol Pharm Bull. 28(11):2046-2053. PMID: 16272687, PMCID: N/A.

  75. Qin J, Diaz-Cueto L, Schwarze JE, Takahashi Y, Imai M, Isuzugawa K, Yamamoto S, Chang KT, Gerton GL, Imakawa K (2005) Effects of progranulin on blastocyst hatching and subsequent adhesion and outgrowth in the mouse.  Biol Reprod. 73(3):434-442. PMID: 15901638, PMCID: N/A.

  76. Qin J, Takahashi Y, Isuzugawa K, Imai M, Yamamoto S, Hirai Y, Imakawa K (2005) Regulation of embryo outgrowth by a morphogenic factor, epimorphin, in the mouse.  Mol Reprod Dev. 70(4):455-463. PMID: 15685636, PMCID: N/A.

  77. Qin J, Takahashi Y, Imai M, Yamamoto S, Takakura K, Noda Y, Imakawa K (2003) Use of DNA array to screen blastocyst genes potentially involved in the process of murine implantation.  J Reprod Dev. 49(6):473-484. PMID: 14967898, PMCID: N/A.

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