| Year |
Citation |
Score |
| 2021 |
Venincasa MJ, Randlett O, Sumathipala SH, Bindernagel R, Stark MJ, Yan Q, Sloan SA, Buglo E, Meng QC, Engert F, Züchner S, Kelz MB, Syed S, Dallman JE. Elevated preoptic brain activity in zebrafish glial glycine transporter mutants is linked to lethargy-like behaviors and delayed emergence from anesthesia. Scientific Reports. 11: 3148. PMID 33542258 DOI: 10.1038/s41598-021-82342-w |
0.608 |
|
| 2020 |
Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA, et al. Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nature Genetics. PMID 32457452 DOI: 10.1038/S41588-020-0649-7 |
0.615 |
|
| 2020 |
Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA, et al. Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nature Genetics. PMID 32367058 DOI: 10.1038/S41588-020-0615-4 |
0.642 |
|
| 2020 |
Buglo E, Sarmiento E, Martuscelli NB, Sant DW, Danzi MC, Abrams AJ, Dallman JE, Züchner S. Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease. Plos One. 15: e0230566. PMID 32208444 DOI: 10.1371/Journal.Pone.0230566 |
0.674 |
|
| 2019 |
Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi M, et al. Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. American Journal of Human Genetics. PMID 30929741 DOI: 10.1016/J.Ajhg.2019.03.001 |
0.372 |
|
| 2018 |
Abrams AJ, Fontanesi F, Tan NB, Buglo E, Campeanu IJ, Kornberg AJ, Phelan DG, Stark Z, Zuchner S. Insights into the genotype-phenotype correlation and molecular function of SLC25A46. Human Mutation. PMID 30178502 DOI: 10.1002/Humu.23639 |
0.34 |
|
| 2018 |
Bedell V, Buglo E, Marcato D, Pylatiuk C, Mikut R, Stegmaier J, Scudder W, Wray M, Züchner S, Strähle U, Peravali R, Dallman JE. Zebrafish: A Pharmacogenetic Model for Anesthesia. Methods in Enzymology. 602: 189-209. PMID 29588029 DOI: 10.1016/Bs.Mie.2018.02.004 |
0.636 |
|
| 2016 |
Kozol RA, Abrams AJ, James DM, Buglo E, Yan Q, Dallman JE. Function Over Form: Modeling Groups of Inherited Neurological Conditions in Zebrafish. Frontiers in Molecular Neuroscience. 9: 55. PMID 27458342 DOI: 10.3389/Fnmol.2016.00055 |
0.584 |
|
| 2016 |
Rebelo AP, Abrams AJ, Cottenie E, Horga A, Gonzalez M, Bis DM, Sanchez-Mejias A, Pinto M, Buglo E, Markel K, Prince J, Laura M, Houlden H, Blake J, Woodward C, et al. Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy. American Journal of Human Genetics. PMID 27040688 DOI: 10.1016/J.Ajhg.2016.02.022 |
0.631 |
|
| Low-probability matches (unlikely to be authored by this person) |
| 2019 |
Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, et al. Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. American Journal of Human Genetics. 104: 1251. PMID 31173719 DOI: 10.1016/j.ajhg.2019.05.009 |
0.257 |
|
| 2021 |
Rebelo AP, Cortese A, Abraham A, Eshed-Eisenbach Y, Shner G, Vainshtein A, Buglo E, Camarena V, Gaidosh G, Shiekhattar R, Abreu L, Courel S, Burns DK, Bai Y, Bacon C, et al. Erratum to: A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement. Brain : a Journal of Neurology. PMID 34037698 DOI: 10.1093/brain/awab181 |
0.238 |
|
| 2019 |
Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yan YW, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, ... ... Buglo E, et al. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nature Genetics. 51: 649-658. PMID 30926972 DOI: 10.1038/S41588-019-0372-4 |
0.237 |
|
| 2021 |
Rebelo AP, Cortese A, Abraham A, Eshed-Eisenbach Y, Shner G, Vainshtein A, Buglo E, Camarena V, Gaidosh G, Shiekhattar R, Abreu L, Courel S, Burns DK, Bai Y, Bacon C, et al. A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement. Brain : a Journal of Neurology. PMID 33889941 DOI: 10.1093/brain/awab019 |
0.233 |
|
| 2018 |
Lassuthova P, Rebelo AP, Ravenscroft G, Lamont PJ, Davis MR, Manganelli F, Feely SM, Bacon C, Brožková DŠ, Haberlova J, Mazanec R, Tao F, Saghira C, Abreu L, Courel S, ... ... Buglo E, et al. Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. American Journal of Human Genetics. 102: 505-514. PMID 29499166 DOI: 10.1016/J.Ajhg.2018.01.023 |
0.229 |
|
| 2016 |
Ward MS, Silva I, Martinez W, Jefferson J, Rahman S, Garcia JM, Kanichar D, Roppiyakuda L, Kosmowska E, Faust MA, Tran KP, Chow F, Buglo E, Zhou F, Groziak MP, et al. Identification of cellular targets of a series of boron heterocycles using TIPA II-A sensitive target identification platform. Bioorganic & Medicinal Chemistry. PMID 27301675 DOI: 10.1016/j.bmc.2016.05.058 |
0.141 |
|
| 2022 |
Safronenka A, Capcha JMC, Webster KA, Buglo E, Tamariz L, Goldberger JJ, Shehadeh LA. Autoimmune Reaction Associated With Long COVID Syndrome and Cardiovascular Disease: A Genetic Case Report. Jacc. Case Reports. 101644. PMID 36348978 DOI: 10.1016/j.jaccas.2022.09.014 |
0.128 |
|
| 2019 |
Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, ... ... Buglo E, et al. Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nature Genetics. PMID 31028356 DOI: 10.1038/S41588-019-0422-Y |
0.084 |
|
| 2014 |
Kanichar D, Roppiyakuda L, Kosmowska E, Faust MA, Tran KP, Chow F, Buglo E, Groziak MP, Sarina EA, Olmstead MM, Silva I, Xu HH. Synthesis, characterization, and antibacterial activity of structurally complex 2-acylated 2,3,1-benzodiazaborines and related compounds. Chemistry & Biodiversity. 11: 1381-97. PMID 25238079 DOI: 10.1002/Cbdv.201400007 |
0.062 |
|
| Hide low-probability matches. |