Search Results - "Han, Sangwoo"

A test of automated use of electronic health records to aid in diagnosis of genetic disease by Cassini, Thomas, Bastarache, Lisa, Zeng, Chenjie, Han, Sangwoo T., Wang, Janey, He, Jing, Denny, Joshua C.

“…Automated use of electronic health records may aid in decreasing the diagnostic delay for rare diseases. The phenotype risk score (PheRS) is a weighted…”
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Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity by Raraigh, Karen S., Han, Sangwoo T., Davis, Emily, Evans, Taylor A., Pellicore, Matthew J., McCague, Allison F., Joynt, Anya T., Lu, Zhongzhou, Atalar, Melis, Sharma, Neeraj, Sheridan, Molly B., Sosnay, Patrick R., Cutting, Garry R.

“…Missense DNA variants have variable effects upon protein function. Consequently, interpreting their pathogenicity is challenging, especially when they are…”
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Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis by McCague, Allison F, Raraigh, Karen S, Pellicore, Matthew J, Davis-Marcisak, Emily F, Evans, Taylor A, Han, Sangwoo T, Lu, Zhongzhou, Joynt, Anya T, Sharma, Neeraj, Castellani, Carlo, Collaco, Joseph M, Corey, Mary, Lewis, Michelle H, Penland, Chris M, Rommens, Johanna M, Stephenson, Anne L, Sosnay, Patrick R, Cutting, Garry R

“…The advent of precision treatment for cystic fibrosis using small-molecule therapeutics has created a need to estimate potential clinical improvements…”
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A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia by Han, Sangwoo T., Anderson, Katherine J., Bjornsson, Hans T., Longo, Nicola, Valle, David

“…Ornithine transcarbamylase deficiency (OTCD) is an X‐linked inborn error caused by loss of function variants in the OTC gene typically associated with severe…”
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Selective release of DNA nanostructures from DNA hydrogel by Ko, Ohsung, Han, Sangwoo, Lee, Jong Bum

“…Novel approach to generate DNA nanostructures was developed by selective release DNA hydrogel. Enzymatic separation of DNA nanostructures was successfully…”
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Mechanism of surface morphology in electron beam melting of Ti6Al4V based on computational flow patterns by Ge, Wenjun, Han, Sangwoo, Fang, Yuchao, Cheon, Jason, Na, Suck Joo

“…•Single melt tracks of Ti6Al4V were fabricated using electron beam melting.•Three different surface morphologies were obtained and investigated.•A new CFD…”
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Two rare variants that affect the same amino acid in CFTR have distinct responses to ivacaftor by Li, Hongyu, Rodrat, Mayuree, Al‐Salmani, Majid K., Veselu, Diana‐Florentina, Han, Sangwoo T., Raraigh, Karen S., Cutting, Garry R., Sheppard, David N.

“…Some residues in the cystic fibrosis transmembrane conductance regulator (CFTR) channel are the site of more than one CFTR variant that cause cystic fibrosis…”
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Resolving Multi‐Stage Rupture Process of the 2021 Mw 4.9 Offshore Jeju Island Earthquake From Relative Source Time Functions by Han, Sangwoo, Kim, Won‐Young, Lim, Hobin, Son, Young Oh, Seo, Min‐Seong, Park, Jun Yong, Kim, YoungHee

“…We used local P and S waves, and regional Lg waves to investigate the Mw 4.9 Offshore Jeju Island earthquake, whose records show evidence of a complex rupture…”
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Optimal dummy word line condition to suppress hot carrier injection phenomenon due to the natural local self-boosting effect in 3D NAND flash memory by Jeong, Youngseok, Ham, Ilsik, Han, Sangwoo, Kang, Myounggon

“…The main cell channel in 3D NAND flash structures easily goes into the floating state, because it is not directly connected to the substrate, resulting in the…”
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Gene expression changes in Tay–Sachs disease begin early in fetal brain development by Han, Sangwoo T., Hirt, Ashley, Nicoli, Elena‐Raluca, Kono, Mari, Toro, Camilo, Proia, Richard L., Tifft, Cynthia J.

“…Treatment of monogenic disorders has historically relied on symptomatic management with limited ability to target primary molecular deficits. However, recent…”
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Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis by Sharma, Neeraj, Evans, Taylor A, Pellicore, Matthew J, Davis, Emily, Aksit, Melis A, McCague, Allison F, Joynt, Anya T, Lu, Zhongzhu, Han, Sangwoo T, Anzmann, Arianna F, Lam, Anh-Thu N, Thaxton, Abigail, West, Natalie, Merlo, Christian, Gottschalk, Laura B, Raraigh, Karen S, Sosnay, Patrick R, Cotton, Calvin U, Cutting, Garry R

“…CFTR modulators have revolutionized the treatment of individuals with cystic fibrosis (CF) by improving the function of existing protein. Unfortunately, almost…”
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Transformative therapies for rare CFTR missense alleles by Oliver, Kathryn E, Han, Sangwoo T, Sorscher, Eric J, Cutting, Garry R

“…•CFTR missense alleles exhibit diverse mechanisms of dysfunction.•Compounds targeting specific classes of CFTR defects have been variably successful.•Methods…”
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A Study on the Formation Reactions and Conversion Mechanisms of HONO and HNO3 in the Atmosphere of Daejeon, Korea by Kim, Kyoungchan, Lee, Chunsang, Choi, Dayeong, Han, Sangwoo, Eom, Jiwon, Han, Jinseok

“…Nitrogen oxides (NOX) in the atmosphere cause oxidation reactions with photochemical radicals and volatile organic compounds, leading to the accumulation of…”
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PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation by Han, Sangwoo T., Kim, Andrew C., Garcia, Karolyn, Schimmenti, Lisa A., Macnamara, Ellen, Network, Undiagnosed Diseases, Gahl, William A., Malicdan, May C., Tifft, Cynthia J.

“…Protein translation is a highly regulated process involving the interaction of numerous genes on every component of the protein translation machinery…”
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GM1 gangliosidosis type II: Results of a 10-year prospective study by D’Souza, Precilla, Farmer, Cristan, Johnston, Jean M., Han, Sangwoo T., Adams, David, Hartman, Adam L., Zein, Wadih, Huryn, Laryssa A., Solomon, Beth, King, Kelly, Jordan, Christopher P., Myles, Jennifer, Nicoli, Elena-Raluca, Rothermel, Caroline E., Mojica Algarin, Yoliann, Huang, Reyna, Quimby, Rachel, Zainab, Mosufa, Bowden, Sarah, Crowell, Anna, Buckley, Ashura, Brewer, Carmen, Regier, Debra S., Brooks, Brian P., Acosta, Maria T., Baker, Eva H., Vézina, Gilbert, Thurm, Audrey, Tifft, Cynthia J.

“…GM1 gangliosidosis (GM1) a lysosomal disorder caused by pathogenic variants in GLB1, is characterized by relentless neurodegeneration. There are no approved…”
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Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients by Nicoli, Elena-Raluca, Huebecker, Mylene, Han, Sangwoo T., Garcia, Karolyn, Munasinghe, Jeeva, Lizak, Martin, Latour, Yvonne, Yoon, Robin, Glase, Brianna, Tyrlik, Michal, Peiravi, Morteza, Springer, Danielle, Baker, Eva H., Priestman, David, Sidhu, Rohini, Kell, Pamela, Jiang, Xuntian, Kolstad, Josephine, Kuhn, Anna Luisa, Shazeeb, Mohammed Salman, Acosta, Maria T., Proia, Richard L., Platt, Frances M., Tifft, Cynthia J.

“…GM1 gangliosidosis is a rare lysosomal storage disorder affecting multiple organ systems, primarily the central nervous system, and is caused by functional…”
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Rupture Model of the 5 April 2024 Tewksbury, New Jersey, Earthquake Based on Regional Lg -Wave Data by Han, Sangwoo, Kim, Won-Young, Park, Jun Yong, Seo, Min-Seong, Kim, YoungHee

“…Abstract On 5 April 2024, an earthquake of magnitude 4.8 occurred in Tewksbury, New Jersey. It was the largest instrumentally recorded event since 1900 in New…”
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Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators by Han, Sangwoo T, Rab, Andras, Pellicore, Matthew J, Davis, Emily F, McCague, Allison F, Evans, Taylor A, Joynt, Anya T, Lu, Zhongzhou, Cai, Zhiwei, Raraigh, Karen S, Hong, Jeong S, Sheppard, David N, Sorscher, Eric J, Cutting, Garry R

“…Treatment of individuals with cystic fibrosis (CF) has been transformed by small molecule therapies that target select pathogenic variants in the CF…”
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Experimental and Computational Study on the Ground Forces CGF Automation of Wargame Models Using Reinforcement Learning by Choi, Minwoo, Moon, Hoseok, Han, Sangwoo, Choi, Yongchan, Lee, Minho, Cho, Namsuk

“…Wargame is an important tool that enables training units to develop various strategies by allowing them to experience unexpected situations. There are three…”
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Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease by Lee, Melissa, Vecchio-Pagán, Briana, Sharma, Neeraj, Waheed, Abdul, Li, Xiaopeng, Raraigh, Karen S, Robbins, Sarah, Han, Sangwoo T, Franca, Arianna L, Pellicore, Matthew J, Evans, Taylor A, Arcara, Kristin M, Nguyen, Hien, Luan, Shan, Belchis, Deborah, Hertecant, Jozef, Zabner, Joseph, Sly, William S, Cutting, Garry R

“…Elevated sweat chloride levels, failure to thrive (FTT), and lung disease are characteristic features of cystic fibrosis (CF, OMIM #219700). Here we describe…”
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