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SHINYA YAMAMOTO

TitleAssociate Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
Address1250 MOURSUND STREET
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    Other Positions
    TitleAssociate Professor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Neuroscience
    DivisionNeuroscience


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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. Delgado-Vega AM, Cederroth H, Taylan F, Ekholm K, Ek M, Thonberg H, Jemt A, Nilsson D, Eisfeldt J, Bilgrav Saether K, H?ijer I, Akgun-Dogan O, Asano Y, Barakat TS, Batkovskyte D, Baynam G, Bodamer O, Chetruengchai W, Corcoran P, Couse M, Danis D, Demidov G, Dohi E, Erhardsson M, Fernandez-Luna L, Fujiwara T, Garg N, Giugliani R, Gonzaga-Jauregui C, Grigelioniene G, Groza T, Gunnarsson C, Hammarsj? A, Hammond CK, Hatirnaz Ng ?, Hesketh S, Hettiarachchi D, Johansson Soller M, Kirmani UA, Kjellberg M, Kvarnung M, Kvlividze O, Lagerstedt-Robinson K, Lasko P, Lassmann T, Lau LYS, Laurie S, Lim WK, Liu Z, Lysenkova Wiklander M, Makay P, Maiga AB, Maya-Gonz?lez C, Meyn MS, Neethiraj R, Nigro V, Nordgren F, Nordlund J, Orrsj? S, Ottosson J, Ozbek U, ?zdemir ?, Partin C, Pearce DA, Peck R, Pedersen A, Pettersson M, Pongpanich M, Posada de la Paz M, Ramani A, Romero JA, Romero VI, Rosenquist R, Saw AM, Spencer M, Stattin EL, Srichomthong C, Tapia-Paez I, Taruscio D, Taylor JP, Tkemaladze T, Tully I, T?mer Z, van Zelst-Stams WAG, Verloes A, V?sterviga E, Wang S, Yang R, Yamamoto S, Y?pez VA, Zhang Q, Shotelersuk V, Wiafe SA, Alanay Y, Botto LD, Kirmani S, Lumaka A, Palmer EE, Puri RD, Wirta V, Lindstrand A, Buske OJ, Cederroth M, Nordgren A. Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon. Nat Genet. 2024 Nov; 56(11):2287-2294. PMID: 39433890.
      Citations: 1     Fields:    
    2. den Hoed J, Hashimoto H, Khan M, Semmekrot F, Bosanko KA, Abe-Hatano C, Nakagawa E, Venselaar H, Quercia N, Chad L, Kurosaka H, Rondeau S, Fisher SE, Yamamoto S, Zarate YA. Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes. J Med Genet. 2024 Oct 23; 61(11):1062-1067. PMID: 39327041.
      Citations:    Fields:    Translation:Humans
    3. 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:    
    4. Oka M, Nakajima S, Suzuki E, Yamamoto S, Ando K. Glucose uptake in pigment glia suppresses tau-induced inflammation and photoreceptor degeneration in Drosophila. bioRxiv. 2024 Aug 19. PMID: 39229232; PMCID: PMC11370381.
      Citations:    
    5. 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.
      Citations: 1     Fields:    
    6. Moulton MJ, Atala K, Zheng Y, Dutta D, Grange DK, Lin WW, Wegner DJ, Wambach JA, Duker AL, Bober MB, Kratz L, Wise CA, Oxendine I, Khanshour A, Undiagnosed Diseases Network, Cole FS, Rios J, Bellen HJ, Moulton MJ, Atala K, Zheng Y, Dutta D, Grange DK, Lin WW, Wegner DJ, Wambach JA, Duker AL, Bober MB, Kratz L, Wise CA, Oxendine I, Khanshour A, Wangler MF, Yamamoto S, Cole FS, Rios J, Bellen HJ. Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities. Genet Med. 2024 Sep; 26(9):101174. PMID: 38847193.
      Citations:    Fields:    Translation:HumansAnimalsCells
    7. Gotoh M, Dezawa S, Takashima I, Yamamoto S, Takashima I. Effects of focal cortical cooling on somatosensory evoked potentials in rats. Brain Res. 2024 Oct 01; 1840:148995. PMID: 38735427.
      Citations:    Fields:    Translation:Animals
    8. Mao D, Liu C, Wang L, Ai-Ouran R, Deisseroth C, Pasupuleti S, Kim SY, Li L, Rosenfeld JA, Meng L, Burrage LC, Wangler MF, Yamamoto S, Undiagnosed Diseases Network, Santana M, Perez V, Shukla P, Eng CM, Lee B, Yuan B, Xia F, Bellen HJ, Liu P, Liu Z. AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian Disorders. NEJM AI. 2024 May; 1(5). PMID: 38962029; PMCID: PMC11221788.
      Citations: 1     
    9. Park YJ, Lu TC, Jackson T, Goodman LD, Ran L, Chen J, Liang CY, Harrison E, Ko C, Hsu AL, Yamamoto S, Qi Y, Bellen HJ, Li H. Whole organism snRNA-seq reveals systemic peripheral changes in Alzheimer's Disease fly models. bioRxiv. 2024 Mar 13. PMID: 38559164; PMCID: PMC10979927.
      Citations:    
    10. 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:    Fields:    Translation:HumansAnimals
    11. Sutton DC, Andrews JC, Dolezal DM, Park YJ, Li H, Eberl DF, Yamamoto S, Groves AK. Comparative exploration of mammalian deafness gene homologues in the Drosophila auditory organ shows genetic correlation between insect and vertebrate hearing. PLoS One. 2024; 19(2):e0297846. PMID: 38412189; PMCID: PMC10898740.
      Citations:    Fields:    Translation:HumansAnimals
    12. 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:    Fields:    Translation:HumansAnimalsCells
    13. Link N, Harnish JM, Hull B, Gibson S, Dietze M, Mgbike UE, Medina-Balcazar S, Shah PS, Yamamoto S. A Zika virus protein expression screen in Drosophila to investigate targeted host pathways during development. Dis Model Mech. 2024 Feb 01; 17(2). PMID: 38214058; PMCID: PMC10924231.
      Citations: 3     Fields:    Translation:AnimalsCells
    14. Undiagnosed Diseases Network, Ma M, Zheng Y, Lu S, Pan X, Worley KC, Burrage LC, Blieden LS, Allworth A, Chen WL, Merla G, Mandriani B, Rosenfeld JA, Li-Kroeger D, Dutta D, Yamamoto S, Wangler MF, Glass IA, Strohbehn S, Blue E, Prontera P, Lalani SR, Bellen HJ. De novo variants in PLCG1 are associated with hearing impairment, ocular pathology, and cardiac defects. medRxiv. 2024 Jan 09. PMID: 38260438; PMCID: PMC10802640.
      Citations:    
    15. 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
    16. 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
    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. medRxiv. 2023 Oct 02. PMID: 37502976; PMCID: PMC10371176.
      Citations:    
    18. Briere LC, Walker MA, Rodan LH, Undiagnosed Diseases Network, Sweetser DA, Jangam SV, Jay KL, Andrews JC, High FA, Yamamoto S, Wangler MF. A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster. Genetics. 2023 08 09; 224(4). PMID: 37314226; PMCID: PMC10411565.
      Citations: 2     Fields:    Translation:HumansAnimals
    19. 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
    20. 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
    21. Link N, Harnish JM, Hull B, Gibson S, Dietze M, Mgbike UE, Medina-Balcazar S, Shah PS, Yamamoto S. A Zika virus protein expression screen in Drosophila to investigate targeted host pathways during development. bioRxiv. 2023 Apr 29. PMID: 37163061; PMCID: PMC10168400.
      Citations: 1     
    22. 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
    23. 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
    24. Uraki R, Ito M, Kiso M, Yamayoshi S, Iwatsuki-Horimoto K, Sakai-Tagawa Y, Furusawa Y, Imai M, Koga M, Yamamoto S, Adachi E, Saito M, Tsutsumi T, Otani A, Kashima Y, Kikuchi T, Yotsuyanagi H, Suzuki Y, Kawaoka Y. Efficacy of antivirals and bivalent mRNA vaccines against SARS-CoV-2 isolate CH.1.1. Lancet Infect Dis. 2023 05; 23(5):525-526. PMID: 36898405; PMCID: PMC9991060.
      Citations: 3     Fields:    Translation:HumansCells
    25. Uraki R, Ito M, Kiso M, Yamayoshi S, Iwatsuki-Horimoto K, Furusawa Y, Sakai-Tagawa Y, Imai M, Koga M, Yamamoto S, Adachi E, Saito M, Tsutsumi T, Otani A, Kikuchi T, Yotsuyanagi H, Halfmann PJ, Pekosz A, Kawaoka Y. Antiviral and bivalent vaccine efficacy against an omicron XBB.1.5 isolate. Lancet Infect Dis. 2023 04; 23(4):402-403. PMID: 36773622; PMCID: PMC9908083.
      Citations: 8     Fields:    Translation:Humans
    26. Undiagnosed Diseases Network, Jangam S, Briere LC, Jay K, Andrews JC, Walker MA, Rodan LH, High FA, Yamamoto S, Sweetser DA, Wangler M. A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster. medRxiv. 2023 Feb 03. PMID: 36778246; PMCID: PMC9915809.
      Citations:    
    27. Uraki R, Ito M, Furusawa Y, Yamayoshi S, Iwatsuki-Horimoto K, Adachi E, Saito M, Koga M, Tsutsumi T, Yamamoto S, Otani A, Kiso M, Sakai-Tagawa Y, Ueki H, Yotsuyanagi H, Imai M, Kawaoka Y. Humoral immune evasion of the omicron subvariants BQ.1.1 and XBB. Lancet Infect Dis. 2023 01; 23(1):30-32. PMID: 36495917; PMCID: PMC9729000.
      Citations: 41     Fields:    Translation:Humans
    28. Nurmahdi H, Hasegawa M, Mujizah EY, Sasamura T, Inaki M, Yamamoto S, Yamakawa T, Matsuno K. Notch Missense Mutations in Drosophila Reveal Functions of Specific EGF-like Repeats in Notch Folding, Trafficking, and Signaling. Biomolecules. 2022 11 25; 12(12). PMID: 36551180; PMCID: PMC9775759.
      Citations:    Fields:    
    29. 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:    
    30. Snijders Blok L, Verseput J, Rots D, Venselaar H, Innes AM, Stumpel C, ?unap K, Reinson K, Seaby EG, McKee S, Burton B, Kim K, van Hagen JM, Waisfisz Q, Joset P, Steindl K, Rauch A, Li D, Zackai EH, Sheppard SE, Keena B, Hakonarson H, Roos A, Kohlschmidt N, Cereda A, Iascone M, Rebessi E, Kernohan KD, Campeau PM, Millan F, Taylor JA, Lochm?ller H, Higgs MR, Goula A, Bernhard B, Velasco DJ, Schmanski AA, Stark Z, Gallacher L, Pais L, Marcogliese PC, Yamamoto S, Raun N, Jakub TE, Kramer JM, den Hoed J, Fisher SE, Brunner HG, Kleefstra T. A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder. HGG Adv. 2023 01 12; 4(1):100157. PMID: 36408368; PMCID: PMC9673101.
      Citations: 2     Translation:HumansAnimalsCells
    31. 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, Galluzzi P, Undiagnosed Diseases Network, Ariani F, Renieri A, Mari F, Wangler MF, Arur S, Jiang YH, Yamamoto S, Shashi V, Bellen HJ. The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder. Hum Mol Genet. 2022 08 25; 31(17):2934-2950. PMID: 35405010; PMCID: PMC9433733.
      Citations:    Fields:    
    32. 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
    33. Yamaguchi M, Yamamoto S. Role of Drosophila in Human Disease Research 2.0. Int J Mol Sci. 2022 Apr 11; 23(8). PMID: 35457020; PMCID: PMC9027098.
      Citations:    Fields:    Translation:HumansAnimals
    34. Harnish JM, Li L, Rogic S, Poirier-Morency G, Kim SY, Undiagnosed Diseases Network, Boycott KM, Wangler MF, Bellen HJ, Hieter P, Pavlidis P, Liu Z, Yamamoto S. ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research. Hum Mutat. 2022 06; 43(6):743-759. PMID: 35224820; PMCID: PMC9133126.
      Citations: 3     Fields:    Translation:Humans
    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. Li H, Janssens J, De Waegeneer M, Kolluru SS, Davie K, Brbic 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, Jasper H, Oliver B, Perrimon N, 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, Engert S, Floc'hlay S, George N, Groves AK, Gumbin S, Guo Y, Harris DE, Heifetz Y, Holtz SL, Horns F, Hung RJ, Jan YN, Jaszczak JS, Jefferis GSXE, Karkanias J, Karr TL, Katheder NS, Kezos J, Kim AA, Kim SK, Kockel L, Kornberg TB, Krause HM, Labott AT, Laturney M, Lehmann R, Leinwand S, Li J, Li JSS, Li K, Li K, Li L, Li T, 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, 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, Gardeux V, Saelens W, David FPA, FCA Consortium?, Deplancke B, Don? E, Gonz?lez-Segarra AJ, Hudry B, Konstantinides N, Litovchenko M, ?zel MN. Fly Cell Atlas: A single-nucleus transcriptomic atlas of the adult fruit fly. Science. 2022 03 04; 375(6584):eabk2432. PMID: 35239393; PMCID: PMC8944923.
      Citations: 21     Fields:    Translation:AnimalsCells
    37. 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
    38. Yang SA, Salazar JL, Li-Kroeger D, Yamamoto S. Functional Studies of Genetic Variants Associated with Human Diseases in Notch Signaling-Related Genes Using Drosophila. Methods Mol Biol. 2022; 2472:235-276. PMID: 35674905; PMCID: PMC9396741.
      Citations:    Fields:    Translation:HumansAnimals
    39. Salazar JL, Yang SA, Lin YQ, Li-Kroeger D, Marcogliese PC, Deal SL, Neely GG, Yamamoto S. TM2D genes regulate Notch signaling and neuronal function in Drosophila. PLoS Genet. 2021 12; 17(12):e1009962. PMID: 34905536; PMCID: PMC8714088.
      Citations:    Fields:    Translation:AnimalsCells
    40. 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
    41. Luo X, Schoch K, Jangam SV, Bhavana VH, Graves HK, Kansagra S, Jasien JM, Stong N, Undiagnosed Diseases Network, Bellen HJ, Wangler MF, Shashi V, Yamamoto S, Keren B, Mignot C, Ravelli C. Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features. Hum Mol Genet. 2021 06 26; 30(14):1283-1292. PMID: 33864376; PMCID: PMC8255132.
      Citations: 4     Fields:    Translation:Humans
    42. 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
    43. Baldridge D, Wangler MF, Bowman AN, Yamamoto S, Undiagnosed Diseases Network, Schedl T, Pak SC, Postlethwait JH, Shin J, Solnica-Krezel L, Bellen HJ, Westerfield M. Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision. Orphanet J Rare Dis. 2021 05 07; 16(1):206. PMID: 33962631; PMCID: PMC8103593.
      Citations: 10     Fields:    Translation:HumansAnimals
    44. Harnish JM, Link N, Yamamoto S. Drosophila as a Model for Infectious Diseases. Int J Mol Sci. 2021 Mar 08; 22(5). PMID: 33800390; PMCID: PMC7962867.
      Citations: 6     Fields:    Translation:AnimalsCells
    45. 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, Douglas J, Rodan L, Nowak C, Ellard S, Stals K, Lynch SA, 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, Keren B, Nava C, Mignot C, Faoucher M, Lesca G, Edery P. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. Am J Hum Genet. 2020 12 03; 107(6):1096-1112. PMID: 33232675; PMCID: PMC7820627.
      Citations: 10     Fields:    Translation:HumansAnimalsCells
    46. Salazar JL, Yang SA, Yamamoto S. Post-Developmental Roles of Notch Signaling in the Nervous System. Biomolecules. 2020 07 01; 10(7). PMID: 32630239; PMCID: PMC7408554.
      Citations: 3     Fields:    Translation:AnimalsCells
    47. 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
    48. 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. De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. Am J Hum Genet. 2020 05 07; 106(5):717-725. PMID: 32330417; PMCID: PMC7212481.
      Citations: 9     Fields:    Translation:HumansAnimalsCells
    49. Chung HL, Wangler MF, Marcogliese PC, Jo J, Ravenscroft TA, Zuo Z, Duraine L, Sadeghzadeh S, Li-Kroeger D, Schmidt RE, Pestronk A, Rosenfeld JA, Burrage L, Herndon MJ, Chen S, Members of Undiagnosed Diseases Network, Shillington A, Vawter-Lee M, Hopkin R, Rodriguez-Smith J, Henrickson M, Lee B, Moser AB, Jones RO, Watkins P, Yoo T, Mar S, Choi M, Bucelli RC, Yamamoto S, Lee HK, Prada CE, Chae JH, Vogel TP, Bellen HJ. Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms. Neuron. 2020 05 20; 106(4):589-606.e6. PMID: 32169171; PMCID: PMC7289150.
      Citations: 24     Fields:    Translation:HumansAnimalsCells
    50. Yamamoto S. Making sense out of missense mutations: Mechanistic dissection of Notch receptors through structure-function studies in Drosophila. Dev Growth Differ. 2020 Jan; 62(1):15-34. PMID: 31943162; PMCID: PMC7401704.
      Citations: 3     Fields:    Translation:AnimalsCells
    51. Graves HK, Jangam S, Tan KL, Pignata A, Seto ES, Yamamoto S, Wangler MF. A Genetic Screen for Genes That Impact Peroxisomes in Drosophila Identifies Candidate Genes for Human Disease. G3 (Bethesda). 2020 01 07; 10(1):69-77. PMID: 31767637; PMCID: PMC6945042.
      Citations: 3     Fields:    Translation:HumansAnimalsCells
    52. Das P, Salazar JL, Li-Kroeger D, Yamamoto S, Nakamura M, Sasamura T, Inaki M, Masuda W, Kitagawa M, Yamakawa T, Matsuno K. Maternal almondex, a neurogenic gene, is required for proper subcellular Notch distribution in early Drosophila embryogenesis. Dev Growth Differ. 2020 Jan; 62(1):80-93. PMID: 31782145.
      Citations: 2     Fields:    Translation:AnimalsCells
    53. Bellen HJ, Wangler MF, Yamamoto S. The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases. Hum Mol Genet. 2019 11 21; 28(R2):R207-R214. PMID: 31227826; PMCID: PMC6872428.
      Citations: 28     Fields:    Translation:HumansAnimals
    54. 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
    55. 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, Yntema HG, Long M, Zhao W, Hu Z, Colson C, Richard N, Schwartz CE, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Zhu B, Bai B, Stankiewicz P, Herman K, University of Washington Center for Mendelian Genomics, Mercimek-Andrews S, Juusola J, Wilfert AB, Abou Jamra R, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss MM, Waisfisz Q, Bijlsma EK, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A, Eichler EE, Keren B, Afenjar A, B?ttner B, Hoffer MJV. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nat Commun. 2019 10 15; 10(1):4679. PMID: 31616000; PMCID: PMC6794285.
      Citations: 15     Fields:    Translation:HumansAnimalsCells
    56. Wang J, Mao D, Fazal F, Kim SY, Yamamoto S, Bellen H, Liu Z. Using MARRVEL v1.2 for Bioinformatics Analysis of Human Genes and Variant Pathogenicity. Curr Protoc Bioinformatics. 2019 09; 67(1):e85. PMID: 31524990; PMCID: PMC6750039.
      Citations: 6     Fields:    Translation:Humans
    57. Harnish JM, Deal SL, Chao HT, Wangler MF, Yamamoto S. In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila. J Vis Exp. 2019 08 20; (150). PMID: 31498321; PMCID: PMC7418855.
      Citations: 17     Fields:    Translation:HumansAnimals
    58. Wang J, Liu Z, Bellen HJ, Yamamoto S. Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information. J Vis Exp. 2019 08 15; (150). PMID: 31475990; PMCID: PMC7401700.
      Citations: 8     Fields:    Translation:HumansAnimals
    59. 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
    60. Deal SL, Yamamoto S. Unraveling Novel Mechanisms of Neurodegeneration Through a Large-Scale Forward Genetic Screen in Drosophila. Front Genet. 2018; 9:700. PMID: 30693015; PMCID: PMC6339878.
      Citations: 17     
    61. Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA, Undiagnosed Diseases Network. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 2018 11 29; 379(22):2131-2139. PMID: 30304647; PMCID: PMC6481166.
      Citations: 97     Fields:    Translation:HumansAnimals
    62. Deal SL, Yamamoto S. Unweaving the role of nuclear Lamins in neural circuit integrity. Cell Stress. 2018 Sep 10; 2(9):219-224. PMID: 31223139; PMCID: PMC6558928.
      Citations: 1     
    63. 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:    
    64. 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. Rapid and Integrative Discovery of Retina Regulatory Molecules. Cell Rep. 2018 08 28; 24(9):2506-2519. PMID: 30157441; PMCID: PMC6170014.
      Citations: 8     Fields:    Translation:HumansCells
    65. 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:    
    66. Liu N, Schoch K, Luo X, Pena LDM, Bhavana VH, Kukolich MK, Stringer S, Radtke K, Mroske C, Deak KL, McDonald MT, McConkie-Rosell A, Markert ML, Kranz PG, Stong N, Need AC, Bick D, Amaral MD, Worthey EA, Levy S, Undiagnosed Diseases Network (UDN), Wangler MF, Bellen HJ, Shashi V, Yamamoto S, Powis Z. Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. Hum Mol Genet. 2018 07 15; 27(14):2454-2465. PMID: 29726930; PMCID: PMC6030957.
      Citations: 25     Fields:    Translation:HumansAnimals
    67. Nakata M, Nagasaka K, Shimoda M, Takashima I, Yamamoto S. Focal brain lesions induced with ultraviolet irradiation. Sci Rep. 2018 05 22; 8(1):7968. PMID: 29789523; PMCID: PMC5964180.
      Citations: 2     Fields:    Translation:AnimalsCellsPHPublic Health
    68. 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
    69. Jaiswal M, Haelterman NA, Sandoval H, Xiong B, Donti T, Kalsotra A, Yamamoto S, Cooper TA, Graham BH, Bellen HJ. Correction: Impaired Mitochondrial Energy Production Causes Light-Induced Photoreceptor Degeneration Independent of Oxidative Stress. PLoS Biol. 2018 03; 16(3):e1002622. PMID: 29509758; PMCID: PMC5839534.
      Citations:    Fields:    
    70. 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, Zappala Z, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM, Undiagnosed Diseases Network, Snyder M, Merker JD, Montgomery SB, Fisher PG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, 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, Ol?hov? M, Contrepois K, Fr?sard L, Feichtinger RG. Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. Am J Hum Genet. 2018 03 01; 102(3):494-504. PMID: 29478781; PMCID: PMC6117612.
      Citations: 33     Fields:    Translation:HumansCells
    71. Salazar JL, Yamamoto S. Integration of Drosophila and Human Genetics to Understand Notch Signaling Related Diseases. Adv Exp Med Biol. 2018; 1066:141-185. PMID: 30030826; PMCID: PMC6233323.
      Citations: 16     Fields:    Translation:HumansAnimalsCells
    72. Landrock KK, Sullivan P, Martini-Stoica H, Goldstein DS, Graham BH, Yamamoto S, Bellen HJ, Gibbs RA, Chen R, D'Amelio M, Stoica G. Pleiotropic neuropathological and biochemical alterations associated with Myo5a mutation in a rat Model. Brain Res. 2018 01 15; 1679:155-170. PMID: 29217155; PMCID: PMC7696654.
      Citations: 7     Fields:    Translation:AnimalsCells
    73. Wangler MF, Yamamoto S, Chao HT, Posey JE, Westerfield M, Postlethwait J, Members of the Undiagnosed Diseases Network (UDN), Hieter P, Boycott KM, Campeau PM, Bellen HJ. Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. Genetics. 2017 09; 207(1):9-27. PMID: 28874452; PMCID: PMC5586389.
      Citations: 84     Fields:    Translation:HumansAnimals
    74. 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. Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet. 2017 Jul; 13(7):e1006905. PMID: 28742085; PMCID: PMC5557584.
      Citations: 36     Fields:    Translation:HumansAnimals
    75. Cook MS, Cazin C, Amoyel M, Yamamoto S, Bach E, Nystul T. Neutral Competition for Drosophila Follicle and Cyst Stem Cell Niches Requires Vesicle Trafficking Genes. Genetics. 2017 07; 206(3):1417-1428. PMID: 28512187; PMCID: PMC5500140.
      Citations: 8     Fields:    Translation:AnimalsCells
    76. Wang J, Al-Ouran R, Hu Y, Kim SY, Wan YW, Wangler MF, Yamamoto S, Chao HT, Comjean A, Mohr SE, UDN, Perrimon N, Liu Z, Bellen HJ. MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome. Am J Hum Genet. 2017 Jun 01; 100(6):843-853. PMID: 28502612; PMCID: PMC5670038.
      Citations: 82     Fields:    Translation:Humans
    77. Chao HT, Davids M, Burke E, Pappas JG, Rosenfeld JA, McCarty AJ, Davis T, Wolfe L, Toro C, Tifft C, Xia F, Stong N, Johnson TK, Warr CG, Undiagnosed Diseases Network, Yamamoto S, Adams DR, Markello TC, Gahl WA, Bellen HJ, Wangler MF, Malicdan MCV. A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. Am J Hum Genet. 2017 Jan 05; 100(1):128-137. PMID: 28017372; PMCID: PMC5223093.
      Citations: 50     Fields:    Translation:HumansCells
    78. 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. Loss of Nardilysin, a Mitochondrial Co-chaperone for a-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration. Neuron. 2017 Jan 04; 93(1):115-131. PMID: 28017472; PMCID: PMC5242142.
      Citations: 55     Fields:    Translation:AnimalsCells
    79. 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, Ripatti S, Porteous DJ, Salomaa V, Eiriksdottir 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, 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, Varga TV, Franks PW, Hallmans G, Rolandsson O, Jansson JH, Alzheimer?s Disease Genetic Consortium, Genetic and Environmental Risk in Alzheimer?s Disease consortium. Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease. PLoS Genet. 2016 Oct; 12(10):e1006327. PMID: 27764101; PMCID: PMC5072721.
      Citations: 23     Fields:    Translation:HumansAnimals
    80. Chen K, Lin G, Haelterman NA, Ho TS, Li T, Li Z, Duraine L, Graham BH, Jaiswal M, Yamamoto S, Rasband MN, Bellen HJ. Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and Pdk1/Mef2 activation, leading to neurodegeneration. Elife. 2016 06 25; 5. PMID: 27343351; PMCID: PMC4956409.
      Citations: 32     Fields:    Translation:Animals
    81. Li T, Fan J, Giagtzoglou N, Lin G, Yamamoto S, Jaiswal M, Chen K, Zhang J, Wei W, Lewis MT, Groves AK, Westerfield M, Jia J, Bellen HJ, Blanco-S?nchez B. Ubr3, a Novel Modulator of Hh Signaling Affects the Degradation of Costal-2 and Kif7 through Poly-ubiquitination. PLoS Genet. 2016 05; 12(5):e1006054. PMID: 27195754; PMCID: PMC4873228.
      Citations: 11     Fields:    Translation:AnimalsCells
    82. David-Morrison G, Xu Z, Rui YN, Charng WL, Jaiswal M, Yamamoto S, Xiong B, Zhang K, Sandoval H, Duraine L, Zuo Z, Zhang S, Bellen HJ. WAC Regulates mTOR Activity by Acting as an Adaptor for the TTT and Pontin/Reptin Complexes. Dev Cell. 2016 Jan 25; 36(2):139-51. PMID: 26812014; PMCID: PMC4730548.
      Citations: 22     Fields:    Translation:AnimalsCells
    83. Bellen HJ, Yamamoto S. Morgan's legacy: fruit flies and the functional annotation of conserved genes. Cell. 2015 Sep 24; 163(1):12-4. PMID: 26406362; PMCID: PMC4783153.
      Citations: 44     Fields:    Translation:HumansAnimals
    84. Jaiswal M, Haelterman NA, Sandoval H, Xiong B, Donti T, Kalsotra A, Yamamoto S, Cooper TA, Graham BH, Bellen HJ. Impaired Mitochondrial Energy Production Causes Light-Induced Photoreceptor Degeneration Independent of Oxidative Stress. PLoS Biol. 2015 Jul; 13(7):e1002197. PMID: 26176594; PMCID: PMC4503542.
      Citations: 24     Fields:    Translation:AnimalsCells
    85. Wang S, Tan KL, Agosto MA, Xiong B, Yamamoto S, Sandoval H, Jaiswal M, Bayat V, Zhang K, Charng WL, David G, Duraine L, Venkatachalam K, Wensel TG, Bellen HJ. Correction: the retromer complex is required for rhodopsin recycling and its loss leads to photoreceptor degeneration. PLoS Biol. 2015 May; 13(5):e1002170. PMID: 26020534; PMCID: PMC4447419.
      Citations:    Fields:    
    86. 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. A voltage-gated calcium channel regulates lysosomal fusion with endosomes and autophagosomes and is required for neuronal homeostasis. PLoS Biol. 2015 Mar; 13(3):e1002103. PMID: 25811491; PMCID: PMC4374850.
      Citations: 48     Fields:    Translation:AnimalsCells
    87. Wangler MF, Yamamoto S, Bellen HJ. Fruit flies in biomedical research. Genetics. 2015 Mar; 199(3):639-53. PMID: 25624315; PMCID: PMC4349060.
      Citations: 71     Fields:    Translation:HumansAnimals
    88. Liu L, Zhang K, Sandoval H, Yamamoto S, Jaiswal M, Sanz E, Li Z, Hui J, Graham BH, Quintana A, Bellen HJ. Glial lipid droplets and ROS induced by mitochondrial defects promote neurodegeneration. Cell. 2015 Jan 15; 160(1-2):177-90. PMID: 25594180; PMCID: PMC4377295.
      Citations: 245     Fields:    Translation:AnimalsCells
    89. Sandoval H, Yao CK, Chen K, Jaiswal M, Donti T, Lin YQ, Bayat V, Xiong B, Zhang K, David G, Charng WL, Yamamoto S, Duraine L, Graham BH, Bellen HJ. Mitochondrial fusion but not fission regulates larval growth and synaptic development through steroid hormone production. Elife. 2014 Oct 14; 3. PMID: 25313867; PMCID: PMC4215535.
      Citations: 58     Fields:    Translation:HumansAnimalsCells
    90. Haelterman NA, Jiang L, Li Y, Bayat V, Sandoval H, Ugur B, Tan KL, Zhang K, Bei D, Xiong B, Charng WL, Busby T, Jawaid A, David G, Jaiswal M, Venken KJ, Yamamoto S, Chen R, Bellen HJ. Large-scale identification of chemically induced mutations in Drosophila melanogaster. Genome Res. 2014 Oct; 24(10):1707-18. PMID: 25258387; PMCID: PMC4199363.
      Citations: 40     Fields:    Translation:AnimalsCells
    91. 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 LELM, 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. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 2014 Sep 25; 159(1):200-214. PMID: 25259927; PMCID: PMC4298142.
      Citations: 168     Fields:    Translation:HumansAnimalsCells
    92. Wang S, Tan KL, Agosto MA, Xiong B, Yamamoto S, Sandoval H, Jaiswal M, Bayat V, Zhang K, Charng WL, David G, Duraine L, Venkatachalam K, Wensel TG, Bellen HJ. The retromer complex is required for rhodopsin recycling and its loss leads to photoreceptor degeneration. PLoS Biol. 2014 Apr; 12(4):e1001847. PMID: 24781186; PMCID: PMC4004542.
      Citations: 35     Fields:    Translation:AnimalsCells
    93. Charng WL, Yamamoto S, Bellen HJ. Shared mechanisms between Drosophila peripheral nervous system development and human neurodegenerative diseases. Curr Opin Neurobiol. 2014 Aug; 27:158-64. PMID: 24762652; PMCID: PMC4122633.
      Citations: 13     Fields:    Translation:HumansAnimalsCells
    94. Toda K, Yamane S, Yamamoto S. Measuring the actual timing of liquid-reward delivery using a thermistor. J Neurosci Methods. 2014 May 30; 229:108-13. PMID: 24768573.
      Citations:    Fields:    Translation:Animals
    95. Charng WL, Yamamoto S, Jaiswal M, Bayat V, Xiong B, Zhang K, Sandoval H, David G, Gibbs S, Lu HC, Chen K, Giagtzoglou N, Bellen HJ. Drosophila Tempura, a novel protein prenyltransferase a subunit, regulates notch signaling via Rab1 and Rab11. PLoS Biol. 2014 Jan; 12(1):e1001777. PMID: 24492843; PMCID: PMC3904817.
      Citations: 27     Fields:    Translation:AnimalsCells
    96. Yamamoto S, Seto ES. Dopamine dynamics and signaling in Drosophila: an overview of genes, drugs and behavioral paradigms. Exp Anim. 2014; 63(2):107-19. PMID: 24770636; PMCID: PMC4160991.
      Citations: 54     Fields:    Translation:HumansAnimalsCells
    97. Yamamoto S, Schulze KL, Bellen HJ. Introduction to Notch signaling. Methods Mol Biol. 2014; 1187:1-14. PMID: 25053477.
      Citations: 40     Fields:    Translation:HumansAnimalsCells
    98. Yamamoto S, Bellen HJ. Preface. Notch signaling. Methods Mol Biol. 2014; 1187:v. PMID: 25187920.
      Citations: 1     Fields:    Translation:HumansAnimalsCells
    99. Hikosaka O, Kim HF, Yasuda M, Yamamoto S. Basal ganglia circuits for reward value-guided behavior. Annu Rev Neurosci. 2014; 37:289-306. PMID: 25032497; PMCID: PMC4148825.
      Citations: 85     Fields:    Translation:HumansAnimals
    100. Hikosaka O, Yamamoto S, Yasuda M, Kim HF. Why skill matters. Trends Cogn Sci. 2013 Sep; 17(9):434-41. PMID: 23911579; PMCID: PMC3756891.
      Citations: 40     Fields:    Translation:HumansAnimals
    101. Yamamoto S, Bayat V, Bellen HJ, Tan C. Protein phosphatase 1? limits ring canal constriction during Drosophila germline cyst formation. PLoS One. 2013; 8(7):e70502. PMID: 23936219; PMCID: PMC3723691.
      Citations: 15     Fields:    Translation:AnimalsCells
    102. Yamamoto S, Kim HF, Hikosaka O. Reward value-contingent changes of visual responses in the primate caudate tail associated with a visuomotor skill. J Neurosci. 2013 Jul 03; 33(27):11227-38. PMID: 23825426; PMCID: PMC3718386.
      Citations: 65     Fields:    Translation:Animals
    103. Giagtzoglou N, Li T, Yamamoto S, Bellen HJ. Drosophila EHBP1 regulates Scabrous secretion during Notch-mediated lateral inhibition. J Cell Sci. 2013 Aug 15; 126(Pt 16):3686-96. PMID: 23788431; PMCID: PMC3744027.
      Citations: 6     Fields:    Translation:AnimalsCells
    104. Zhang K, Li Z, Jaiswal M, Bayat V, Xiong B, Sandoval H, Charng WL, David G, Haueter C, Yamamoto S, Graham BH, Bellen HJ. The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit. J Cell Biol. 2013 Mar 18; 200(6):807-20. PMID: 23509070; PMCID: PMC3601355.
      Citations: 36     Fields:    Translation:HumansAnimalsCells
    105. Xiong B, Bayat V, Jaiswal M, Zhang K, Sandoval H, Charng WL, Li T, David G, Duraine L, Lin YQ, Neely GG, Yamamoto S, Bellen HJ. Crag is a GEF for Rab11 required for rhodopsin trafficking and maintenance of adult photoreceptor cells. PLoS Biol. 2012; 10(12):e1001438. PMID: 23226104; PMCID: PMC3514319.
      Citations: 47     Fields:    Translation:AnimalsCells
    106. Yamamoto S, Charng WL, Rana NA, Kakuda S, Jaiswal M, Bayat V, Xiong B, Zhang K, Sandoval H, David G, Wang H, Haltiwanger RS, Bellen HJ. A mutation in EGF repeat-8 of Notch discriminates between Serrate/Jagged and Delta family ligands. Science. 2012 Nov 30; 338(6111):1229-32. PMID: 23197537; PMCID: PMC3663443.
      Citations: 50     Fields:    Translation:HumansAnimalsCells
    107. Yasuda M, Yamamoto S, Hikosaka O. Robust representation of stable object values in the oculomotor Basal Ganglia. J Neurosci. 2012 Nov 21; 32(47):16917-32. PMID: 23175843; PMCID: PMC3537824.
      Citations: 55     Fields:    Translation:AnimalsCells
    108. Yamamoto S, Monosov IE, Yasuda M, Hikosaka O. What and where information in the caudate tail guides saccades to visual objects. J Neurosci. 2012 Aug 08; 32(32):11005-16. PMID: 22875934; PMCID: PMC3465728.
      Citations: 65     Fields:    Translation:AnimalsCells
    109. Giagtzoglou N, Yamamoto S, Zitserman D, Graves HK, Schulze KL, Wang H, Klein H, Roegiers F, Bellen HJ. dEHBP1 controls exocytosis and recycling of Delta during asymmetric divisions. J Cell Biol. 2012 Jan 09; 196(1):65-83. PMID: 22213802; PMCID: PMC3255984.
      Citations: 19     Fields:    Translation:AnimalsCells
    110. Yamamoto S, Charng WL, Bellen HJ. Endocytosis and intracellular trafficking of Notch and its ligands. Curr Top Dev Biol. 2010; 92:165-200. PMID: 20816395; PMCID: PMC6233319.
      Citations: 55     Fields:    Translation:HumansAnimalsCells
    111. Andrews HK, Giagtzoglou N, Yamamoto S, Schulze KL, Bellen HJ. Sequoia regulates cell fate decisions in the external sensory organs of adult Drosophila. EMBO Rep. 2009 Jun; 10(6):636-41. PMID: 19444309; PMCID: PMC2711842.
      Citations: 8     Fields:    Translation:AnimalsCells
    112. Ohori Y, Yamamoto S, Nagao M, Sugimori M, Yamamoto N, Nakamura K, Nakafuku M. Growth factor treatment and genetic manipulation stimulate neurogenesis and oligodendrogenesis by endogenous neural progenitors in the injured adult spinal cord. J Neurosci. 2006 Nov 15; 26(46):11948-60. PMID: 17108169; PMCID: PMC6674878.
      Citations: 72     Fields:    Translation:AnimalsCells
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