| Year |
Citation |
Score |
| 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 |
1 |
|
| 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 |
1 |
|
| 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 |
1 |
|
| 2020 |
Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Küry S, et al. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. American Journal of Human Genetics. PMID 32197074 DOI: 10.1016/j.ajhg.2020.02.016 |
0.24 |
|
| 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 |
1 |
|
| 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 |
1 |
|
| 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 |
1 |
|
| 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 |
1 |
|
| 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 |
1 |
|
| 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 |
1 |
|
| 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 |
1 |
|
| 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 |
1 |
|
| 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 |
1 |
|
| 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 |
1 |
|
| 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 |
0.64 |
|
| 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 |
0.64 |
|
| 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 |
1 |
|
| 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 |
1 |
|
| 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 |
1 |
|
| 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 |
1 |
|
| 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 |
1 |
|
| 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 |
1 |
|
| 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 |
1 |
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| 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 |
1 |
|
| 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 |
1 |
|
| 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 |
1 |
|
| 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 |
1 |
|
| 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 |
1 |
|
| 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 |
1 |
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| 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 |
1 |
|
| 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 |
1 |
|
| 2016 |
Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM, Freemark MS, Bellet JS, et al. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. American Journal of Human Genetics. PMID 27693232 DOI: 10.1016/j.ajhg.2016.08.017 |
1 |
|
| 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 |
1 |
|
| 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 |
1 |
|
| 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 |
1 |
|
| 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 |
1 |
|
| 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 |
1 |
|
| 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 |
1 |
|
| 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 |
1 |
|
| 2015 |
Wangler MF, Yamamoto S, Bellen HJ. Fruit flies in biomedical research. Genetics. 199: 639-53. PMID 25624315 DOI: 10.1534/genetics.114.171785 |
1 |
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| 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 |
1 |
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| 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 |
1 |
|
| 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 |
1 |
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| 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 |
1 |
|
| 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 |
1 |
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| 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 |
1 |
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| 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 |
1 |
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| 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: DN/JST.JSTAGE/expanim/63.107 |
1 |
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| 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 |
1 |
|
| 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 |
1 |
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| 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 |
1 |
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| 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 |
1 |
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| 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 |
1 |
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| 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 |
1 |
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| 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 |
1 |
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| 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 |
1 |
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| 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 |
1 |
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| 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 |
1 |
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