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Stack of Books

Publications

Publications from the Yamamoto lab and earlier works by the PI

(Please email the PI if you need a pdf copy of any of these manuscripts)

Articles published & in press (Chronological Order)

 

  1. 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.

  2. 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, 70:455-463. PMID: 15685636, PMCID: N/A.

  3. 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, 73:434-442. PMID: 15901638, PMCID: N/A.

  4. 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, 28:2046-2053. PMID: 16272687, PMCID: N/A.

  5. 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, 68:471-478. PMID: 16757890, PMCID: N/A.

  6. 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 Reports, 10:636-641. PMID: 19444309, PMCID: PMC2711842.

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

  8. 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: 65-83 (*equal contribution). PMID: 22213802, PMCID: PMC3255984.

  9. 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: 1229-1232. PMID: 23197537, PMCID: PMC3663443.

  10. 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: e1001438. PMID: 23226104, PMCID: PMC3514319.

  11. 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. Journal of Cell Biology, 200:807-820. PMID: 23509070, PMCID: PMC3601355.

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

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

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

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

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

  17. 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: e1001777. PMID: 24492843, PMCID: PMC3904817.

  18. 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:e1001847. PMID: 24781186, PMCID: PMC4004542.

  19. Charng W-L, Yamamoto S, Bellen HJ (2014) Shared mechanisms between Drosophila peripheral nervous system development and human neurodegenerative diseases. Curr Opin Neurobiol, 27:158-164. PMID: 24762652, PMCID: PMC4122633.

  20. 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, 159:200-214 (*equal contribution). PMID: 25259927, PMCID: PMC4298142.

  21. 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, 24:1707-1718. PMID: 25258387, PMCID: PMC4199363.

  22. 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.

  23. 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, 160:177-190. PMID: 25594180, PMCID: PMC4377295.

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

  25. 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, 6;13(3):e1002103. PMID: 25811491, PMCID: PMC4374850.

  26. 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.

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

  28. 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, 36:139-151. PMID: 26812014. PMCID: PMC4730548.

  29. 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) The Ubr3 E3 ubiquitin ligase modulates Costal-2 levels and is necessary for Hedgehog signaling. PLoS Genet, 12(5):e1006054. PMID: 27195754, PMCID: PMC4873228.

  30. Chen K, Lin G, Haelterman NA, Duraine L, Li Z, Graham BH, Jaiswal M, Yamamoto S, Bellen HJ (2015) Loss of frataxin affects mitochondrial function, causes iron depositions that induce sphingolipid synthesis and PDK1 phosphorylation, and both pathways synergize to promote neurodegeneration. ELife, 5:e16043. PMID: 27343351, PMCID: PMC4956409.

  31. 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: e1006327 PMID: 27764101, PMCID: PMC5072721 (*equal contribution).

  32. 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, 93:115-131. PMID: 28017472. PMCID: PMC5242142.

  33. 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, 128-137. PMID: 28017372. PMICD: PMC5223093.

  34. 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

  35. 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. 206:1417-1428. PMID: 28512187. PMCID: PMC5500140

  36. 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.

  37. 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 contributions)

  38. 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).

  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. 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, 102:494-504. PMID: 29478781, PMCID: PMC6117612

  41. 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.

  42. 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)

  43. 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.

  44. 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.

  45. 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).

  46. 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.

  47. 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).

  48. 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.

  49. 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).

  50. 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. (†corresponding author).

  51. 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.

  52. 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.

  53. 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. e51539. PMID: 31674908, PMCID: PMC6855806.

  54. 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).

  55. 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).

  56. 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.

  57. 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).

  58. 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.

  59. 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.

  60. 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.

  61. 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).

  62. 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.

  63. 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).

  64. Baldridge D, Wangler MF, Bowman AN, Yamamoto S, UDN, 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.

  65. 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). (Cover of Issue).

  66. 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)1889-1900. PMID: 34113007. PMCID: PMC8487929.

  67. 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.

  68. 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 (2022) De novo FZR1 loss-of-function variants cause developmental delay and epileptic encephalopathies. Brain. 145(5):1684-1697. PMID: 34788397. PMCID: PMC9166542.

  69. 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).

  70. 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. (†corresponding authors).

  71. 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.

  72. 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). (Highlighted in the Matchmaker Exchange Issue)

  73. 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.

  74. 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. (†corresponding authors).

  75. 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. 31(17):2934-2950. PMID: 35405010. PMCID: PMC9433733.

  76. 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.

  77. 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: PMC9396741. (†corresponding authors).

  78. 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 (2022) The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. Am J Hum Genet. 109(10):1923-1931. PMID: 36067766. PMCID: PMC9606386.

  79. Snijders Blok L, Verseput J, Rots D, Venselaar H, Innes AM, Stumpel C, Õunap 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, Lochmüller 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 (2023) A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder. HGG Adv. 4(1):100157. PMID: 36408368. PMCID: PMC9673101.

  80. Keramidioti A, Golegou E, Psarra E, Paschalidis N, Kalodimou K, Yamamoto S, Delidakis C, Vakaloglou KM, Zervas CG (2022) Epithelial morphogenesis in the Drosophila egg chamber requires Parvin and ILK. Front Cell Dev Biol. 10:951082. PMID: 36531940. PMCID: PMC9752845.

  81. Nurmahdi H, Hasegawa M, Mujizah EY, Sasamura T, Inaki M, Yamamoto S, Yamakawa T, Matsuno K (2022) Notch Missense Mutations in Drosophila Reveal Functions of Specific EGF-like Repeats in Notch Folding, Trafficking, and Signaling by Folding, Trafficking, and Signaling. Biomolecules 12(12):1752. PMID: 36551180. PMCID: PMC9775759.

  82. Andrews JC, Mok JW, Kanca O, Jangam S, Tifft C, Macnamara EF, Russell BE, Wang LK; Undiagnosed Diseases Network; Nelson SF, Bellen HJ, Yamamoto S, Malicdan MCV, Wangler MF (2023) De Novo Variants in MRTFB have gain of function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features. Genet Med. 25(6):100833. PMID: 37013900. PMCID: PMC11533975.

  83. Tepe B, Macke EL, Niceta M, Hubsham MW, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer B, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Guillou XL, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P. Gößwein S, Donato ND, Bertini ES, Undiagnosed Diseases Network(UDN), Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ (2023) Biallelic variants in INTS11 are associated with a novel complex neurological disorder. Am J Hum Genet. 110(5):774-789. PMID: 37054711. PMCID: PMC10183469.

  84. Jangam SV, Briere LC, Jay KL, Andrews JC, Walker MA, Rodan LH, High FA; Undiagnosed Diseases Network; Yamamoto S, Sweetser DA, Wangler MF (2023) A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster. Genetics. 224(4):iyad110. PMID: 37314226. PMCID: PMC10411565.

  85. Guichard A, Lu S, Kanca O, Bressan D, Huang Y, Ma M, Juste SS, Andrews JC, Jay KL, Sneider M, Schwartz R, Huang M-C, Bei D, Pan H, Ma L, Lin W-W, Auradkar A, Bhagwat P, Park S, Wan KH, Ohsako T, Takano-Shimizu T, Celniker SE, Wangler MF, Yamamoto S†, Bellen HJ†, Bier E† (2023). A comprehensive Drosophila genetic resource to study SARS-CoV-2 virus-host interactions in vivo. Cell Rep. 42(8):112842. PMID: 37480566. PMCID: PMC10962759. (†corresponding authors).

  86. Yamamoto S*, Kanca O*, Wangler MF, Bellen HJ (2024). Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans. Nat Rev Genet. 25(1):46-60. PMID: 37491400. PMCID: N/A. (*equal contributions).

  87. Nil Z, Deshwar AR, Huang Y, Barish S, Zhang X, Choufani S, Le Quesne Stabej P, Hayes I, Yap P, Haldeman-Englert C, Wilson C, Prescott T, Tveten K, Vøllo A, Haynes D, Wheeler PG, Zon J, Cytrynbaum C, Jobling R, Blyth M, Banka S, Afenjar A, Mignot C, Robin-Renaldo F, Keren B, Kanca O, Mao X, Wegner DJ, Sisco K, Shinawi M; Undiagnosed Disease Network; Wangler MF, Weksberg R, Yamamoto S, Costain G, Bellen HJ (2023). Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies. Am J Hum Genet. 110(11):1919-1937. PMID: 37827158. PMCID: PMC10645550.

  88. Pan X, Alvarez AN, Ma M, Lu S, Crawford MW, Briere LC, Kanca O, Yamamoto S, Sweetser DA, Wilson JL, Napier RJ, Pruneda JN, Bellen HJ (2023). Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays. Elife. 12:RP89891. PMID: 38079206. PMCID: PMC10712953.

  89. Link N*†, Harnish MJ*, Hull B, Gibson, S, Dietze M, Mgbike UE, Medina-Balcazar S, Shah PS, Yamamoto S† (2024) A Zika virus protein expression screen in Drosophila to investigate targeted host pathways during development. Dis Model Mech. (*equal contributions, †corresponding authors). 17(2):dmm050297. PMID: 38214058. PMCID: PMC10924231 (Cover of Issue).

  90. Dutta D, Kanca O, Shridharan RV, Marcogliese PC, Steger B, Morimoto M, Frost FG, Macnamara E; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Jenny A, Adams D, Malicdan MC, Bellen HJ (2024). Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability. Proc Natl Acad Sci U S A. 121(9):e2322582121. PMID: 38381787. PMCID: PMC10907268.

  91. Sutton DC, Andrews JC, Dolezal DM, Park YJ, Li H, Eberl DF, Yamamoto S†, Groves AK† (2024). Comparative exploration of mammalian deafness gene homologues in the Drosophila auditory organ shows genetic correlation between insect and vertebrate hearing. PLoS One. 19(2):e0297846. PMID: 38412189. PMCID: PMC10898740. (†corresponding authors).

  92. Pan X, Tao AM, Lu S, Ma M, Hannan SB, Slaugh R, Drewes Williams S, O'Grady L, Kanca O, Person R, Carter MT, Platzer K, Schnabel F, Abou Jamra R, Roberts AE, Newburger JW, Revah-Politi A, Granadillo JL, Stegmann APA, Sinnema M, Accogli A, Salpietro V, Capra V, Ghaloul-Gonzalez L, Brueckner M, Simon MEH, Sweetser DA, Glinton KE, Kirk SE; Baylor College of Medicine Center for Precision Medicine Models; Wangler MF, Yamamoto S, Chung WK, Bellen HJ (2024). De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. Am J Hum Genet. 111(4):742-760. PMID: 38479391. PMCID: PMC11023917.

  93. Huang Y, Jay KL, Yen-Wen Huang A, Wan J, Jangam SV, Chorin O, Rothschild A, Barel O, Mariani M, Iascone M, Xue H; Undiagnosed Diseases Network; Huang J, Mignot C, Keren B, Saillour V, Mah-Som AY, Sacharow S, Rajabi F, Costin C, Yamamoto S, Kanca O, Bellen HJ, Rosenfeld JA, Palmer CGS, Nelson SF, Wangler MF, Martinez-Agosto JA (2024) Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 26(11):101218. PMID: 39036895. PMCID: PMC11648989

  94. 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; Wangler MF, Yamamoto S, Cole FS, Rios J, Bellen HJ (2024) Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities. Genet Med. 26(9):101174. PMID: 38847193. PMCID: In Progress.

  95. 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 (2024) AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian Disorders. NEJM AI. 1(5):10.1056/aioa2300009. PMID: 38962029. PMCID: PMC11221788.

  96. 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† (2024). Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes.  J Med Genet. 61(11):1062-1067. PMID: 39327041. PMCID: In Progress. (†corresponding authors).

  97. Delgado-Vega AM, Cederroth H, Taylan F, Ekholm K, Ek M, Thonberg H, Jemt A, Nilsson D, Eisfeldt J, Bilgrav Saether K, Höijer 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, Hammarsjö A, Hammond CK, Hatirnaz Ng Ö, 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-González C, Meyn MS, Neethiraj R, Nigro V, Nordgren F, Nordlund J, Orrsjö S, Ottosson J, Ozbek U, Özdemir Ö, 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, Tümer Z, van Zelst-Stams WAG, Verloes A, Västerviga E, Wang S, Yang R, Yamamoto S, Yépez 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 (2024). Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon. Nat Genet. 56(11):2287-2294. PMID: 39433890. PMCID: PMC12198426.

  98. 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 (2025) De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome. Brain. 148(8):2658-2670. PMID: 39918047. PMCID: PMC12316012.

  99. 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 (2025) De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms. Am J Hum Genet. 112(4):846-862. PMID: 40088891, PMCID: PMC12081231.

  100. 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, Baylor College of Medicine Center for Precision Medicine Models, Yamamoto S†, Keren Machol† (2025) C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder. Genet Med. doi: 10.1016/j.gim.2025.101429. Online ahead of print. PMID: 40221893, PMCID: In Progress (†corresponding authors).

  101. Oka M, Nakajima S, Suzuki E, Yamamoto S, Ando K (2025) Glucose uptake in pigment glia suppresses tau-induced inflammation and photoreceptor degeneration in Drosophila. Dis Model Mech. 18(4):dmm052057. PMID: 40151148, PMCID: PMC12067088.

  102. Yasuda R, Hashimoto H, Oka M, Mok JW, Waqar M, Dauwalder B, Kanca O, Mizuno T, Yamamoto S† (2025) Functional analysis of pathogenic variants in LAMB1-related leukoencephalopathy reveals genotype–phenotype correlations and suggests its role in glial cells. Hum Mol Genet. 34(11):990-999. PMID: 40237576. PMCID: PMC12085778 (†corresponding author).

  103. Park YJ, Lu TC, Jackson T, Goodman LD, Ran L, Chen J, Liang CY, Harrison E, Ko C, Chen X, Wang B, Hsu AL, Ochoa E, Bieniek KF, Yamamoto S, Zhu Y, Zheng H, Qi Y, Bellen HJ, Li H (2024). Distinct systemic impacts of Aβ42 and Tau revealed by whole-organism snRNA-seq. Neuron. 113(13):2065-2082.e8. PMID: 40381615. PMCID: PMC12245608.

  104. Mok J-W, Gibson SB, Dostalik SA, Yamamoto S† (2024). Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases. Genome Research. 35(7):1473-1484. PMID: 40467338, PMCID: PMC12212082. (†corresponding author).

 

Preprints

 

  1. Deal SL, Bei D, Gibson SB, Delgado-Seo H, Fujita Y, Wilwayco K, Seto ES, Sehgal A, Yamamoto S† (2024). RNAi-based screen for cuticle pigmentation in Drosophila melanogaster reveals novel regulators of brain dopamine and sleep. bioRxiv. https://doi.org/10.1101/2023.07.20.549932. PMID: 40236063. PMCID: PMC11996387 (†corresponding author).

  2. 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 (2025). Resolution of SLC6A1 variable expressivity in a multi-generational family using deep clinical phenotyping and Drosophila models. medRxiv. https://www.medrxiv.org/content/10.1101/2024.09.27.24314092v1. PMID: 39399018. PMCID: PMC11469343.

  3. 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 (2025) Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling. medRxiv. https://www.medrxiv.org/content/10.1101/2024.12.05.24318524v1. PMID: 39677486. PMCID: PMC11643287.

© 2022- by Shinya Yamamoto

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