| Year |
Citation |
Score |
| 2024 |
Goodman LD, Ralhan I, Li X, Lu S, Moulton MJ, Park YJ, Zhao P, Kanca O, Ghaderpour Taleghani ZS, Jacquemyn J, Shulman JM, Ando K, Sun K, Ioannou MS, Bellen HJ. Tau is required for glial lipid droplet formation and resistance to neuronal oxidative stress. Nature Neuroscience. PMID 39187706 DOI: 10.1038/s41593-024-01740-1 |
0.741 |
|
| 2024 |
Ma M, Ganapathi M, Zheng Y, Tan KL, Kanca O, Bove KE, Quintanilla N, Sag SO, Temel SG, LeDuc CA, McPartland AJ, Pereira EM, Shen Y, Hagen J, Thomas CP, ... ... Lu S, et al. Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 101125. PMID 38522068 DOI: 10.1016/j.gim.2024.101125 |
0.771 |
|
| 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, 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 |
0.837 |
|
| 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 |
0.785 |
|
| 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 |
0.791 |
|
| 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 |
0.792 |
|
| 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, 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 |
0.769 |
|
| 2023 |
Chung HL, Ye Q, Park YJ, Zuo Z, Mok JW, Kanca O, Tattikota SG, Lu S, Perrimon N, Lee HK, Bellen HJ. Very-long-chain fatty acids induce glial-derived sphingosine-1-phosphate synthesis, secretion, and neuroinflammation. Cell Metabolism. PMID 37084732 DOI: 10.1016/j.cmet.2023.03.022 |
0.748 |
|
| 2023 |
Pan X, Dutta D, Lu S, Bellen HJ. Sphingolipids in neurodegenerative diseases. Frontiers in Neuroscience. 17: 1137893. PMID 36875645 DOI: 10.3389/fnins.2023.1137893 |
0.769 |
|
| 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 |
0.76 |
|
| 2022 |
Ma M, Zhang X, Zheng Y, Lu S, Pan X, Mao X, Pan H, Chung HL, Wang H, Guo H, Bellen HJ. The fly homolog of SUPT16H, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survival. Human Molecular Genetics. PMID 36255738 DOI: 10.1093/hmg/ddac259 |
0.814 |
|
| 2022 |
Lu S, Ma M, Mao X, Bacino CA, Jankovic J, Sutton VR, Bartley JA, Wang X, Rosenfeld JA, Beleza-Meireles A, Chauhan J, Pan X, Li M, Liu P, Prescott K, et al. De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement. American Journal of Human Genetics. 109: 1932-1943. PMID 36206744 DOI: 10.1016/j.ajhg.2022.09.005 |
0.72 |
|
| 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, Kernohan KD, Sweetser DA, Boycott KM, et al. The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. American Journal of Human Genetics. PMID 36067766 DOI: 10.1016/j.ajhg.2022.08.011 |
0.779 |
|
| 2022 |
Ma M, Moulton MJ, Lu S, Bellen HJ. 'Fly-ing' from rare to common neurodegenerative disease mechanisms. Trends in Genetics : Tig. PMID 35484057 DOI: 10.1016/j.tig.2022.03.018 |
0.767 |
|
| 2022 |
Huang Y, Ma M, Mao X, Pehlivan D, Kanca O, Un-Candan F, Shu L, Akay G, Mitani T, Lu S, Candan S, Wang H, Xiao B, Lupski JR, Bellen HJ. Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms. Human Molecular Genetics. PMID 35348658 DOI: 10.1093/hmg/ddac070 |
0.797 |
|
| 2022 |
Lu S, Hernan R, Marcogliese PC, Huang Y, Gertler TS, Akcaboy M, Liu S, Chung HL, Pan X, Sun X, Oguz MM, Oztoprak U, de Baaij JHF, Ivanisevic J, McGinnis E, et al. Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures. American Journal of Human Genetics. PMID 35240055 DOI: 10.1016/j.ajhg.2022.01.020 |
0.815 |
|
| 2022 |
Accogli A, Lu S, Musante I, Scudieri P, Rosenfeld JA, Severino M, Baldassari S, Iacomino M, Riva A, Balagura G, Piccolo G, Minetti C, Roberto D, Xia F, Razak R, et al. Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development. Cerebellum (London, England). PMID 35218524 DOI: 10.1007/s12311-022-01379-3 |
0.793 |
|
| 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, 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 |
0.681 |
|
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