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Shinya Yamamoto - Publications

Affiliations: 
Baylor College of Medicine, Houston, TX 
Area:
Genetics, Drosophila, Rare and Undiagnosed Diseases, Neurological and Psychiatric Disorders, Developmental Biology
Website:
https://www.bcm.edu/people-search/shinya-yamamoto-33456
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110 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2024 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, Yamamoto S, Kanca O, Bellen HJ, et al. Resolution of variable expressivity in a multi-generational family using deep clinical phenotyping and models. Medrxiv : the Preprint Server For Health Sciences. PMID 39399018 DOI: 10.1101/2024.09.27.24314092  0.446
2024 Oka M, Nakajima S, Suzuki E, Yamamoto S, Ando K. Glucose uptake in pigment glia suppresses tau-induced inflammation and photoreceptor degeneration in . Biorxiv : the Preprint Server For Biology. PMID 39229232 DOI: 10.1101/2024.08.14.607919  0.781
2024 Huang Y, Jay KL, Huang AY, Wan J, Jangam SV, Chorin O, Rothschild A, Barel O, Mariani M, Iascone M, Xue H, Huang J, Mignot C, Keren B, Saillour V, ... ... Yamamoto S, et al. Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 101218. PMID 39036895 DOI: 10.1016/j.gim.2024.101218  0.788
2024 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, Santana M, Perez V, et al. AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian Disorders. Nejm Ai. 1. PMID 38962029 DOI: 10.1056/aioa2300009  0.775
2024 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 : the Preprint Server For Biology. PMID 38559164 DOI: 10.1101/2024.03.10.584317  0.73
2024 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, ... ... Yamamoto S, et al. De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. American Journal of Human Genetics. PMID 38479391 DOI: 10.1016/j.ajhg.2024.02.007  0.834
2024 Dutta D, Kanca O, Shridharan RV, Marcogliese PC, Steger B, Morimoto M, Frost FG, Macnamara E, 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. Proceedings of the National Academy of Sciences of the United States of America. 121: e2322582121. PMID 38381787 DOI: 10.1073/pnas.2322582121  0.814
2024 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, et al. variants in are associated with hearing impairment, ocular pathology, and cardiac defects. Medrxiv : the Preprint Server For Health Sciences. PMID 38260438 DOI: 10.1101/2024.01.08.23300523  0.814
2024 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. Disease Models & Mechanisms. PMID 38214058 DOI: 10.1242/dmm.050297  0.799
2023 Pan X, Alvarez AN, Ma M, Lu S, Crawford MW, Briere LC, Kanca O, Yamamoto S, Sweetser DA, Wilson JL, Napier RJ, Pruneda JN, Bellen HJ. Allelic strengths of encephalopathy-associated variants correlate between in vivo and in vitro assays. Elife. 12. PMID 38079206 DOI: 10.7554/eLife.89891  0.824
2023 Nil Z, Deshwar AR, Huang Y, Barish S, Zhang X, Choufani S, Le Quesne Stabej P, Hayes I, Yap P, Haldeman-Englert C, Wilson C, Prescott T, Tveten K, Vøllo A, Haynes D, ... ... Yamamoto S, et al. Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies. American Journal of Human Genetics. PMID 37827158 DOI: 10.1016/j.ajhg.2023.09.009  0.815
2023 Pan X, Alvarez AN, Ma M, Lu S, Crawford MW, Briere LC, Kanca O, Yamamoto S, Sweetser DA, Wilson JL, Napier RJ, Pruneda JN, Bellen HJ. Allelic strengths of encephalopathy-associated variants correlate between and assays. Medrxiv : the Preprint Server For Health Sciences. PMID 37502976 DOI: 10.1101/2023.07.17.23292782  0.825
2023 Yamamoto S, Kanca O, Wangler MF, Bellen HJ. Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans. Nature Reviews. Genetics. PMID 37491400 DOI: 10.1038/s41576-023-00633-6  0.807
2023 Guichard A, Lu S, Kanca O, Bressan D, Huang Y, Ma M, Sanz Juste S, Andrews JC, Jay KL, Sneider M, Schwartz R, Huang MC, Bei D, Pan H, Ma L, ... ... Yamamoto S, et al. A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins. Cell Reports. 42: 112842. PMID 37480566 DOI: 10.1016/j.celrep.2023.112842  0.803
2023 Jangam SV, Briere LC, Jay KL, Andrews JC, Walker MA, Rodan LH, High FA, Yamamoto S, Sweetser DA, Wangler MF. A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster. Genetics. PMID 37314226 DOI: 10.1093/genetics/iyad110  0.639
2023 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 to investigate targeted host pathways during development. Biorxiv : the Preprint Server For Biology. PMID 37163061 DOI: 10.1101/2023.04.28.538736  0.793
2023 Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, ... ... Yamamoto S, et al. Bi-allelic variants in INTS11 are associated with a complex neurological disorder. American Journal of Human Genetics. PMID 37054711 DOI: 10.1016/j.ajhg.2023.03.012  0.786
2023 Andrews JC, Mok JW, Kanca O, Jangam S, Tifft C, Macnamara EF, Russell BE, Wang LK, Nelson SF, Bellen HJ, Yamamoto S, Malicdan MCV, Wangler MF. De Novo Variants in MRTFB have gain of function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 100833. PMID 37013900 DOI: 10.1016/j.gim.2023.100833  0.803
2023 Jangam S, Briere LC, Jay K, Andrews JC, Walker MA, Rodan LH, High FA, Yamamoto S, Sweetser DA, Wangler M. A missense variant in associated with developmental delay exhibits functional deficits in . Medrxiv : the Preprint Server For Health Sciences. PMID 36778246 DOI: 10.1101/2023.01.31.23285113  0.66
2022 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, ... ... Yamamoto S, et al. A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder. Hgg Advances. 4: 100157. PMID 36408368 DOI: 10.1016/j.xhgg.2022.100157  0.733
2022 Huang Y, Lemire G, Briere LC, Liu F, Wessels MW, Wang X, Osmond M, Kanca O, Lu S, High FA, Walker MA, Rodan LH, Wangler MF, Yamamoto S, Kernohan KD, et al. The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. American Journal of Human Genetics. 109: 2092. PMID 36332614 DOI: 10.1016/j.ajhg.2022.10.001  0.768
2022 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 in Molecular Biology (Clifton, N.J.). 2472: 235-276. PMID 35674905 DOI: 10.1007/978-1-0716-2201-8_19  0.829
2022 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, ... ... Yamamoto S, et al. The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder. Human Molecular Genetics. PMID 35405010 DOI: 10.1093/hmg/ddac085  0.692
2022 Marcogliese PC, Deal SL, Andrews J, Harnish JM, Bhavana VH, Graves HK, Jangam S, Luo X, Liu N, Bei D, Chao YH, Hull B, Lee PT, Pan H, Bhadane P, ... ... Yamamoto S, et al. Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. Cell Reports. 38: 110517. PMID 35294868 DOI: 10.1016/j.celrep.2022.110517  0.792
2022 Harnish JM, Li L, Rogic S, Poirier-Morency G, Kim SY, Network UD, 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. Human Mutation. PMID 35224820 DOI: 10.1002/humu.24364  0.8
2022 Marcogliese PC, Dutta D, Ray SS, Dang NDP, Zuo Z, Wang Y, Lu D, Fazal F, Ravenscroft TA, Chung H, Kanca O, Wan J, Douine ED, Network UD, Pena LDM, ... Yamamoto S, et al. Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. Science Advances. 8: eabl5613. PMID 35044823 DOI: 10.1126/sciadv.abl5613  0.803
2021 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 Genetics. 17: e1009962. PMID 34905536 DOI: 10.1371/journal.pgen.1009962  0.808
2021 Manivannan SN, Roovers J, Smal N, Myers CT, Turkdogan D, Roelens F, Kanca O, Chung HL, Scholz T, Hermann K, Bierhals T, Caglayan HS, Stamberger H, Mefford H, ... ... Yamamoto S, et al. De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies. Brain : a Journal of Neurology. PMID 34788397 DOI: 10.1093/brain/awab409  0.821
2021 Goodman LD, Cope H, Nil Z, Ravenscroft TA, Charng WL, Lu S, Tien AC, Pfundt R, Koolen DA, Haaxma CA, Veenstra-Knol HE, Wassink-Ruiter JSK, Wevers MR, Jones M, Walsh LE, ... ... Yamamoto S, et al. TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. American Journal of Human Genetics. PMID 34314705 DOI: 10.1016/j.ajhg.2021.06.019  0.805
2021 Ravenscroft TA, Phillips JB, Fieg E, Bajikar SS, Peirce J, Wegner J, Luna AA, Fox EJ, Yan YL, Rosenfeld JA, Zirin J, Kanca O, Benke PJ, Cameron ES, ... ... Yamamoto S, et al. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 34113007 DOI: 10.1038/s41436-021-01216-8  0.823
2021 Baldridge D, Wangler MF, Bowman AN, Yamamoto S, 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 Journal of Rare Diseases. 16: 206. PMID 33962631 DOI: 10.1186/s13023-021-01839-9  0.693
2021 Luo X, Schoch K, Jangam SV, Bhavana VH, Graves HK, Kansagra S, Jasien J, Stong N, Keren B, Mignot C, Ravelli C, Bellen HJ, Wangler MF, Shashi V, ... Yamamoto S, et al. Rare deleterious de novo missense variants in RNF2/RING2 are associated with a neurodevelopmental disorder with unique clinical features. Human Molecular Genetics. PMID 33864376 DOI: 10.1093/hmg/ddab110  0.715
2021 Harnish JM, Link N, Yamamoto S. as a Model for Infectious Diseases. International Journal of Molecular Sciences. 22. PMID 33800390 DOI: 10.3390/ijms22052724  0.797
2020 Barish S, Barakat TS, Michel BC, Mashtalir N, Phillips JB, Valencia AM, Ugur B, Wegner J, Scott TM, Bostwick B, Murdock DR, Dai H, Perenthaler E, Nikoncuk A, ... ... Yamamoto S, et al. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. American Journal of Human Genetics. PMID 33232675 DOI: 10.1016/j.ajhg.2020.11.003  0.828
2020 Salazar JL, Yang SA, Yamamoto S. Post-Developmental Roles of Notch Signaling in the Nervous System. Biomolecules. 10. PMID 32630239 DOI: 10.3390/biom10070985  0.801
2020 Dutta D, Briere LC, Kanca O, Marcogliese PC, Walker MA, High FA, Vanderver A, Krier J, Carmichael N, Callahan C, Taft RJ, Simons C, Helman G, Network UD, Wangler MF, ... Yamamoto S, et al. De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Human Molecular Genetics. PMID 32356556 DOI: 10.1093/Hmg/Ddaa081  0.813
2020 Chung HL, Mao X, Wang H, Park YJ, Marcogliese PC, Rosenfeld JA, Burrage LC, Liu P, Murdock DR, Yamamoto S, Wangler MF, Chao HT, Long H, Feng L, et al. De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. American Journal of Human Genetics. PMID 32330417 DOI: 10.1016/J.Ajhg.2020.04.001  0.824
2020 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, ... ... Yamamoto S, et al. Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms. Neuron. PMID 32169171 DOI: 10.1016/J.Neuron.2020.02.021  0.793
2020 Yamamoto S. Making sense out of missense mutations: Mechanistic dissection of Notch receptors through structure-function studies in Drosophila. Development, Growth & Differentiation. PMID 31943162 DOI: 10.1111/dgd.12640  0.34
2019 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. Development, Growth & Differentiation. PMID 31782145 DOI: 10.1111/Dgd.12639  0.806
2019 Graves HK, Jangam S, Tan KL, Pignata A, Seto ES, Yamamoto S, Wangler MF. A Genetic Screen for Genes That Impact Peroxisomes in Identifies Candidate Genes for Human Disease. G3 (Bethesda, Md.). PMID 31767637 DOI: 10.1534/G3.119.400803  0.756
2019 Kanca O, Zirin J, Garcia-Marques J, Knight SM, Yang-Zhou D, Amador G, Chung H, Zuo Z, Ma L, He Y, Lin WW, Fang Y, Ge M, Yamamoto S, Schulze KL, et al. An efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms. Elife. 8. PMID 31674908 DOI: 10.7554/Elife.51539  0.766
2019 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, ... ... Yamamoto S, et al. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nature Communications. 10: 4679. PMID 31616000 DOI: 10.1038/S41467-019-12435-8  0.817
2019 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. Current Protocols in Bioinformatics. 67: e85. PMID 31524990 DOI: 10.1002/Cpbi.85  0.796
2019 Harnish JM, Deal SL, Chao HT, Wangler MF, Yamamoto S. In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila. Journal of Visualized Experiments : Jove. PMID 31498321 DOI: 10.3791/59658  0.816
2019 Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, ... ... Yamamoto S, et al. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. American Journal of Human Genetics. 105: 672-674. PMID 31491411 DOI: 10.1016/J.Ajhg.2019.07.017  0.786
2019 Wang J, Liu Z, Bellen HJ, Yamamoto S. Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information. Journal of Visualized Experiments : Jove. PMID 31475990 DOI: 10.3791/59542  0.727
2019 Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, ... ... Yamamoto S, et al. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. American Journal of Human Genetics. PMID 31327508 DOI: 10.1016/J.Ajhg.2019.06.014  0.83
2019 Bellen HJ, Wangler MF, Yamamoto S. The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases. Human Molecular Genetics. PMID 31227826 DOI: 10.1093/Hmg/Ddz135  0.728
2019 Kanca O, Zirin J, Garcia-Marques J, Knight SM, Yang-Zhou D, Amador G, Chung H, Zuo Z, Ma L, He Y, Lin W, Fang Y, Ge M, Yamamoto S, Schulze KL, et al. Author response: An efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms Elife. DOI: 10.7554/Elife.51539.024  0.69
2018 Deal SL, Yamamoto S. Unweaving the role of nuclear Lamins in neural circuit integrity. Cell Stress. 2: 219-224. PMID 31223139 DOI: 10.15698/cst2018.09.151  0.809
2018 Deal SL, Yamamoto S. Unraveling Novel Mechanisms of Neurodegeneration Through a Large-Scale Forward Genetic Screen in . Frontiers in Genetics. 9: 700. PMID 30693015 DOI: 10.3389/Fgene.2018.00700  0.834
2018 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, ... ... Yamamoto S, et al. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. The New England Journal of Medicine. PMID 30304647 DOI: 10.1056/Nejmoa1714458  0.673
2018 Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM, Ortiz D, ... ... Yamamoto S, et al. IRF2BPL Is Associated with Neurological Phenotypes. American Journal of Human Genetics. 103: 456. PMID 30193138 DOI: 10.1016/j.ajhg.2018.08.010  0.789
2018 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, ... ... Yamamoto S, et al. Rapid and Integrative Discovery of Retina Regulatory Molecules. Cell Reports. 24: 2506-2519. PMID 30157441 DOI: 10.1016/J.Celrep.2018.07.090  0.635
2018 Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Ortiz D, Infante E, ... ... Yamamoto S, et al. IRF2BPL Is Associated with Neurological Phenotypes. American Journal of Human Genetics. PMID 30057031 DOI: 10.1016/J.Ajhg.2018.07.006  0.834
2018 Salazar JL, Yamamoto S. Integration of Drosophila and Human Genetics to Understand Notch Signaling Related Diseases. Advances in Experimental Medicine and Biology. 1066: 141-185. PMID 30030826 DOI: 10.1007/978-3-319-89512-3_8  0.762
2018 Liu N, Schoch K, Luo X, Pena L, Bhavana VH, Kukolich MK, Stringer S, Powis Z, Radtke K, Mroske C, Deak K, McDonald MT, McConkie-Rosell A, Markert ML, Kranz PG, ... ... Yamamoto S, et al. Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. Human Molecular Genetics. PMID 29726930 DOI: 10.1093/Hmg/Ddy146  0.732
2018 Lee PT, Zirin J, Kanca O, Lin WW, Schulze KL, Li-Kroeger D, Tao R, Devereaux C, Hu Y, Chung V, Fang Y, He Y, Pan H, Ge M, Zuo Z, ... ... Yamamoto S, et al. A gene-specificlibrary for. Elife. 7. PMID 29565247 DOI: 10.7554/Elife.35574  0.812
2018 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 Biology. 16: e1002622. PMID 29509758 DOI: 10.1371/Journal.Pbio.1002622  0.769
2018 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, ... ... Yamamoto S, et al. Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. American Journal of Human Genetics. PMID 29478781 DOI: 10.1016/J.Ajhg.2018.01.020  0.685
2018 Lee P, Zirin J, Kanca O, Lin W, Schulze KL, Li-Kroeger D, Tao R, Devereaux C, Hu Y, Chung V, Fang Y, He Y, Pan H, Ge M, Zuo Z, ... ... Yamamoto S, et al. Author response: A gene-specific T2A-GAL4 library for Drosophila Elife. DOI: 10.7554/Elife.35574.023  0.782
2017 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 Research. PMID 29217155 DOI: 10.1016/J.Brainres.2017.11.029  0.565
2017 Wangler MF, Yamamoto S, Chao HT, Posey JE, Westerfield M, Postlethwait J, Hieter P, Boycott KM, Campeau PM, Bellen HJ. Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. Genetics. 207: 9-27. PMID 28874452 DOI: 10.1534/Genetics.117.203067  0.758
2017 Luo X, Rosenfeld JA, Yamamoto S, Harel T, Zuo Z, Hall M, Wierenga K, Pastore MT, Bartholomew D, Delgado MR, Rotenberg J, Lewis RA, Emrick L, Bacino CA, Eldomery MK, et al. Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. Plos Genetics. 13: e1006905. PMID 28742085 DOI: 10.1371/Journal.Pgen.1006905  0.74
2017 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. PMID 28512187 DOI: 10.1534/Genetics.117.201202  0.363
2017 Wang J, Al-Ouran R, Hu Y, Kim SY, Wan YW, Wangler MF, Yamamoto S, Chao HT, Comjean A, Mohr SE, Perrimon N, Liu Z, Bellen HJ. MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome. American Journal of Human Genetics. PMID 28502612 DOI: 10.1016/J.Ajhg.2017.04.010  0.805
2016 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, et al. Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration. Neuron. PMID 28017472 DOI: 10.1016/J.Neuron.2016.11.038  0.797
2016 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, ... Yamamoto S, et al. A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. American Journal of Human Genetics. PMID 28017372 DOI: 10.1016/J.Ajhg.2016.11.018  0.784
2016 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, et al. Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease. Plos Genetics. 12: e1006327. PMID 27764101 DOI: 10.1371/Journal.Pgen.1006327  0.805
2016 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. 5. PMID 27343351 DOI: 10.7554/Elife.16043  0.795
2016 Li T, Fan J, Blanco-Sánchez B, Giagtzoglou N, Lin G, Yamamoto S, Jaiswal M, Chen K, Zhang J, Wei W, Lewis MT, Groves AK, Westerfield M, Jia J, Bellen HJ. Ubr3, a Novel Modulator of Hh Signaling Affects the Degradation of Costal-2 and Kif7 through Poly-ubiquitination. Plos Genetics. 12: e1006054. PMID 27195754 DOI: 10.1371/Journal.Pgen.1006054  0.793
2016 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. Developmental Cell. 36: 139-51. PMID 26812014 DOI: 10.1016/J.Devcel.2015.12.019  0.786
2016 Chen K, Lin G, Haelterman NA, Ho TS, Li T, Li Z, Duraine L, Graham BH, Jaiswal M, Yamamoto S, Rasband MN, Bellen HJ. Author response: Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and Pdk1/Mef2 activation, leading to neurodegeneration Elife. DOI: 10.7554/Elife.16043.018  0.769
2015 Aad G, Abbott B, Abdallah J, Abdinov O, Aben R, Abolins M, AbouZeid OS, Abramowicz H, Abreu H, Abreu R, Abulaiti Y, Acharya BS, Adamczyk L, Adams DL, Adelman J, ... ... Yamamoto S, et al. ATLAS Run 1 searches for direct pair production of third-generation squarks at the Large Hadron Collider. The European Physical Journal. C, Particles and Fields. 75: 510. PMID 26549981 DOI: 10.1140/Epjc/S10052-015-3726-9  0.334
2015 Aad G, Abbott B, Abdallah J, Abdinov O, Aben R, Abolins M, AbouZeid OS, Abramowicz H, Abreu H, Abreu R, Abulaiti Y, Acharya BS, Adamczyk L, Adams DL, ... ... Yamamoto S, et al. Search for metastable heavy charged particles with large ionisation energy loss in pp collisions at [Formula: see text] TeV using the ATLAS experiment. The European Physical Journal. C, Particles and Fields. 75: 407. PMID 26543401 DOI: 10.1140/Epjc/S10052-015-3609-0  0.331
2015 Aad G, Abbott B, Abdallah J, Abdinov O, Aben R, Abolins M, AbouZeid OS, Abramowicz H, Abreu H, Abreu R, Abulaiti Y, Acharya BS, Adamczyk L, Adams DL, Adelman J, ... ... Yamamoto S, et al. Study of the spin and parity of the Higgs boson in diboson decays with the ATLAS detector. The European Physical Journal. C, Particles and Fields. 75: 476. PMID 26472935 DOI: 10.1140/Epjc/S10052-015-3685-1  0.314
2015 Aad G, Abbott B, Abdallah J, Abdel Khalek S, Abdinov O, Aben R, Abi B, Abolins M, AbouZeid OS, Abramowicz H, Abreu H, Abreu R, Abulaiti Y, Acharya BS, Adamczyk L, ... ... Yamamoto S, et al. Two-particle Bose-Einstein correlations in pp collisions at [Formula: see text] 0.9 and 7 TeV measured with the ATLAS detector. The European Physical Journal. C, Particles and Fields. 75: 466. PMID 26457062 DOI: 10.1140/Epjc/S10052-015-3644-X  0.318
2015 Bellen HJ, Yamamoto S. Morgan's Legacy: Fruit Flies and the Functional Annotation of Conserved Genes. Cell. 163: 12-4. PMID 26406362 DOI: 10.1016/J.Cell.2015.09.009  0.567
2015 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 Biology. 13: e1002197. PMID 26176594 DOI: 10.1371/Journal.Pbio.1002197  0.801
2015 Aad G, Abbott B, Abdallah J, Abdinov O, Aben R, Abolins M, AbouZeid OS, Abramowicz H, Abreu H, Abreu R, Abulaiti Y, Acharya BS, Adamczyk L, Adams DL, Adelman J, ... ... Yamamoto S, et al. Combined Measurement of the Higgs Boson Mass in pp Collisions at sqrt[s]=7 and 8 TeV with the ATLAS and CMS Experiments. Physical Review Letters. 114: 191803. PMID 26024162 DOI: 10.1103/Physrevlett.114.191803  0.301
2015 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 Biology. 13: e1002170. PMID 26020534 DOI: 10.1371/Journal.Pbio.1002170  0.77
2015 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, et al. A voltage-gated calcium channel regulates lysosomal fusion with endosomes and autophagosomes and is required for neuronal homeostasis. Plos Biology. 13: e1002103. PMID 25811491 DOI: 10.1371/Journal.Pbio.1002103  0.706
2015 Wangler MF, Yamamoto S, Bellen HJ. Fruit flies in biomedical research. Genetics. 199: 639-53. PMID 25624315 DOI: 10.1534/Genetics.114.171785  0.676
2015 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. 160: 177-90. PMID 25594180 DOI: 10.1016/J.Cell.2014.12.019  0.781
2014 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. 3. PMID 25313867 DOI: 10.7554/Elife.03558  0.781
2014 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, et al. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 159: 200-14. PMID 25259927 DOI: 10.1016/J.Cell.2014.09.002  0.807
2014 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, ... ... Yamamoto S, et al. Large-scale identification of chemically induced mutations in Drosophila melanogaster. Genome Research. 24: 1707-18. PMID 25258387 DOI: 10.1101/Gr.174615.114  0.792
2014 Yamamoto S, Bellen HJ. Preface. Notch signaling. Methods in Molecular Biology (Clifton, N.J.). 1187: v. PMID 25187920 DOI: 10.1007/978-1-4939-1139_4  0.413
2014 Yamamoto S, Schulze KL, Bellen HJ. Introduction to Notch signaling. Methods in Molecular Biology (Clifton, N.J.). 1187: 1-14. PMID 25053477 DOI: 10.1007/978-1-4939-1139-4_1  0.684
2014 Tanaka N, Yamashita T, Yamamoto S, Matsunobu T, Tsuda H, Honda K, Yamada T, Tamai S, Shiotani A. Histological growth pattern of and alpha-actinin-4 expression in thyroid cancer. Anticancer Research. 34: 3157-63. PMID 24922688  0.377
2014 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 Biology. 12: e1001847. PMID 24781186 DOI: 10.1371/Journal.Pbio.1001847  0.797
2014 Yamamoto S, Seto ES. Dopamine dynamics and signaling in Drosophila: an overview of genes, drugs and behavioral paradigms. Experimental Animals / Japanese Association For Laboratory Animal Science. 63: 107-19. PMID 24770636 DOI: 10.1538/Expanim.63.107  0.599
2014 Charng WL, Yamamoto S, Bellen HJ. Shared mechanisms between Drosophila peripheral nervous system development and human neurodegenerative diseases. Current Opinion in Neurobiology. 27: 158-64. PMID 24762652 DOI: 10.1016/J.Conb.2014.03.001  0.785
2014 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 α subunit, regulates notch signaling via Rab1 and Rab11. Plos Biology. 12: e1001777. PMID 24492843 DOI: 10.1371/Journal.Pbio.1001777  0.796
2014 Sandoval H, Yao C, Chen K, Jaiswal M, Donti T, Lin YQ, Bayat V, Xiong B, Zhang K, David G, Charng W, Yamamoto S, Duraine L, Graham BH, Bellen HJ. Author response: Mitochondrial fusion but not fission regulates larval growth and synaptic development through steroid hormone production Elife. DOI: 10.7554/Elife.03558.023  0.762
2013 Yamamoto S, Bayat V, Bellen HJ, Tan C. Protein phosphatase 1ß limits ring canal constriction during Drosophila germline cyst formation. Plos One. 8: e70502. PMID 23936219 DOI: 10.1371/Journal.Pone.0070502  0.776
2013 Giagtzoglou N, Li T, Yamamoto S, Bellen HJ. Drosophila EHBP1 regulates Scabrous secretion during Notch-mediated lateral inhibition. Journal of Cell Science. 126: 3686-96. PMID 23788431 DOI: 10.1242/Jcs.126292  0.792
2013 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. The Journal of Cell Biology. 200: 807-20. PMID 23509070 DOI: 10.1083/Jcb.201208033  0.797
2012 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 Biology. 10: e1001438. PMID 23226104 DOI: 10.1371/Journal.Pbio.1001438  0.78
2012 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 (New York, N.Y.). 338: 1229-32. PMID 23197537 DOI: 10.1126/Science.1228745  0.794
2012 Pälike H, Lyle MW, Nishi H, Raffi I, Ridgwell A, Gamage K, Klaus A, Acton G, Anderson L, Backman J, Baldauf J, Beltran C, Bohaty SM, Bown P, Busch W, ... ... Yamamoto S, et al. A Cenozoic record of the equatorial Pacific carbonate compensation depth. Nature. 488: 609-14. PMID 22932385 DOI: 10.1038/Nature11360  0.358
2012 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. The Journal of Cell Biology. 196: 65-83. PMID 22213802 DOI: 10.1083/Jcb.201106088  0.803
2010 Yamamoto S, Charng WL, Bellen HJ. Endocytosis and intracellular trafficking of Notch and its ligands. Current Topics in Developmental Biology. 92: 165-200. PMID 20816395 DOI: 10.1016/S0070-2153(10)92005-X  0.761
2009 Andrews HK, Giagtzoglou N, Yamamoto S, Schulze KL, Bellen HJ. Sequoia regulates cell fate decisions in the external sensory organs of adult Drosophila. Embo Reports. 10: 636-41. PMID 19444309 DOI: 10.1038/Embor.2009.66  0.797
2006 Takahashi Y, Isuzugawa K, Murase Y, Imai M, Yamamoto S, Iizuka M, Akira S, Bahr GM, Momotani EI, Hori M, Ozaki H, Imakawa K. Up-regulation of NOD1 and NOD2 through TLR4 and TNF-α in LPS-treated murine macrophages Journal of Veterinary Medical Science. 68: 471-478. PMID 16757890 DOI: 10.1292/Jvms.68.471  0.552
2005 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. Intestinal gene expression in TNBS treated mice using GeneChip and subtractive cDNA analysis: Implications for Crohn's disease Biological and Pharmaceutical Bulletin. 28: 2046-2053. PMID 16272687 DOI: 10.1248/Bpb.28.2046  0.616
2005 Qin J, Díaz-Cueto L, Schwarze JE, Takahashi Y, Imai M, Isuzugawa K, Yamamoto S, Chang KT, Gerton GL, Imakawa K. Effects of progranulin on blastocyst hatching and subsequent adhesion and outgrowth in the mouse Biology of Reproduction. 73: 434-442. PMID 15901638 DOI: 10.1095/Biolreprod.105.040030  0.599
2005 Qin J, Takahashi Y, Isuzugawa K, Imai M, Yamamoto S, Hirai Y, Imakawa K. Regulation of embryo outgrowth by a morphogenic factor, epimorphin, in the mouse Molecular Reproduction and Development. 70: 455-463. PMID 15685636 DOI: 10.1002/Mrd.20225  0.599
2003 Qin J, Takahashi Y, Imai M, Yamamoto S, Takakura K, Noda Y, Imakawa K. Use of DNA array to screen blastocyst genes potentially involved in the process of murine implantation Journal of Reproduction and Development. 49: 473-484. PMID 14967898 DOI: 10.1262/Jrd.49.473  0.607
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