Year |
Citation |
Score |
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 |
0.665 |
|
2020 |
Bustamante-Marin XM, Horani A, Stoyanova M, Charng WL, Bottier M, Sears PR, Yin WN, Daniels LA, Bowen H, Conrad DF, Knowles MR, Ostrowski LE, Zariwala MA, Dutcher SK. Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia. Plos Genetics. 16: e1008691. PMID 32764743 DOI: 10.1371/Journal.Pgen.1008691 |
0.323 |
|
2017 |
Wang X, Charng WL, Chen CA, Rosenfeld JA, Al Shamsi A, Al-Gazali L, McGuire M, Mew NA, Arnold GL, Qu C, Ding Y, Muzny DM, Gibbs RA, Eng CM, Walkiewicz M, et al. Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nature Genetics. PMID 28288113 DOI: 10.1038/Ng.3815 |
0.372 |
|
2016 |
Harms FL, Girisha KM, Hardigan AA, Kortüm F, Shukla A, Alawi M, Dalal A, Brady L, Tarnopolsky M, Bird LM, Ceulemans S, Bebin M, Bowling KM, Hiatt SM, Lose EJ, ... ... Charng WL, et al. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. American Journal of Human Genetics. PMID 28017373 DOI: 10.1016/J.Ajhg.2016.11.012 |
0.307 |
|
2016 |
Harel T, Yesil G, Bayram Y, Coban-Akdemir Z, Charng WL, Karaca E, Al Asmari A, Eldomery MK, Hunter JV, Jhangiani SN, Rosenfeld JA, Pehlivan D, El-Hattab AW, Saleh MA, LeDuc CA, et al. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. American Journal of Human Genetics. 98: 562-570. PMID 26942288 DOI: 10.1016/J.Ajhg.2016.01.011 |
0.347 |
|
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 |
0.736 |
|
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 |
0.747 |
|
2015 |
Karaca E, Buyukkaya R, Pehlivan D, Charng WL, Yaykasli KO, Bayram Y, Gambin T, Withers M, Atik MM, Arslanoglu I, Bolu S, Erdin S, Buyukkaya A, Yaykasli E, Jhangiani SN, et al. Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. The Journal of Clinical Endocrinology and Metabolism. 100: E140-7. PMID 25322266 DOI: 10.1210/Jc.2014-1984 |
0.337 |
|
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 |
0.748 |
|
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 |
0.685 |
|
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, 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 |
0.714 |
|
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 |
0.777 |
|
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 |
0.621 |
|
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 |
0.74 |
|
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 |
0.727 |
|
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 |
0.774 |
|
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 |
0.749 |
|
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 |
0.769 |
|
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 |
0.603 |
|
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