Pesquisa | Biblioteca Virtual em Saúde

1.

Targeted long-read sequencing identifies missing disease-causing variation.

Miller, Danny E; Sulovari, Arvis; Wang, Tianyun; Loucks, Hailey; Hoekzema, Kendra; Munson, Katherine M; Lewis, Alexandra P; Fuerte, Edith P Almanza; Paschal, Catherine R; Walsh, Tom; Thies, Jenny; Bennett, James T; Glass, Ian; Dipple, Katrina M; Patterson, Karynne; Bonkowski, Emily S; Nelson, Zoe; Squire, Audrey; Sikes, Megan; Beckman, Erika; Bennett, Robin L; Earl, Dawn; Lee, Winston; Allikmets, Rando; Perlman, Seth J; Chow, Penny; Hing, Anne V; Wenger, Tara L; Adam, Margaret P; Sun, Angela; Lam, Christina; Chang, Irene; Zou, Xue; Austin, Stephanie L; Huggins, Erin; Safi, Alexias; Iyengar, Apoorva K; Reddy, Timothy E; Majoros, William H; Allen, Andrew S; Crawford, Gregory E; Kishnani, Priya S; King, Mary-Claire; Cherry, Tim; Chong, Jessica X; Bamshad, Michael J; Nickerson, Deborah A; Mefford, Heather C; Doherty, Dan; Eichler, Evan E.

Am J Hum Genet ; 108(8): 1436-1449, 2021 08 05.

Artigo em Inglês | MEDLINE | ID: mdl-34216551

2.

Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease.

Kenney-Jung, Daniel; Korlimarla, Aditi; Spiridigliozzi, Gail A; Wiggins, Walter; Malinzak, Michael; Nichting, Gretchen; Jung, Seung-Hye; Sun, Angela; Wang, Raymond Y; Al Shamsi, Aisha; Phornphutkul, Chanika; Owens, James; Provenzale, James M; Kishnani, Priya S.

Mol Genet Metab ; 141(2): 108119, 2024 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-38184429

3.

BAP1 and PTEN mutations shape the immunological landscape of clear cell renal cell carcinoma and reveal the intertumoral heterogeneity of T cell suppression: a proof-of-concept study.

Friedhoff, Jana; Schneider, Felix; Jurcic, Christina; Endris, Volker; Kirchner, Martina; Sun, Angela; Bolnavu, Iulia; Pohl, Laura; Teroerde, Miriam; Kippenberger, Maximilian; Schwab, Constantin; Kaczorowski, Adam; Zschäbitz, Stefanie; Jäger, Dirk; Hohenfellner, Markus; Stenzinger, Albrecht; Duensing, Anette; Duensing, Stefan.

Cancer Immunol Immunother ; 72(6): 1603-1618, 2023 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-36562826

4.

Utilization and Outcomes of Observation for Spontaneous Pneumothorax at an Integrated Health System.

Kwak, Hyunjee V; Banks, Kian C; Hung, Yun-Yi; Brennan, Phillip G; Wilde, Sawley A; Sumner, Eric T; Sun, Angela; Hsu, Diana S; Velotta, Jeffrey B.

J Surg Res ; 288: 28-37, 2023 08.

Artigo em Inglês | MEDLINE | ID: mdl-36948030

5.

A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.

Zhang, Tong; Duong, Phi; Dayuha, Remwilyn; Collins, Christopher J; Beckman, Erika; Thies, Jenny; Chang, Irene; Lam, Christina; Sun, Angela; Scott, Anna I; Thompson, John; Singh, Aranjeet; Khaledi, Hamid; Gelb, Michael H; Hahn, Si Houn.

Mol Genet Metab ; 136(4): 296-305, 2022 08.

Artigo em Inglês | MEDLINE | ID: mdl-35787971

6.

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.

Weerts, Marjolein J A; Lanko, Kristina; Guzmán-Vega, Francisco J; Jackson, Adam; Ramakrishnan, Reshmi; Cardona-Londoño, Kelly J; Peña-Guerra, Karla A; van Bever, Yolande; van Paassen, Barbara W; Kievit, Anneke; van Slegtenhorst, Marjon; Allen, Nicholas M; Kehoe, Caroline M; Robinson, Hannah K; Pang, Lewis; Banu, Selina H; Zaman, Mashaya; Efthymiou, Stephanie; Houlden, Henry; Järvelä, Irma; Lauronen, Leena; Määttä, Tuomo; Schrauwen, Isabelle; Leal, Suzanne M; Ruivenkamp, Claudia A L; Barge-Schaapveld, Daniela Q C M; Peeters-Scholte, Cacha M P C D; Galehdari, Hamid; Mazaheri, Neda; Sisodiya, Sanjay M; Harrison, Victoria; Sun, Angela; Thies, Jenny; Pedroza, Luis Alberto; Lara-Taranchenko, Yana; Chinn, Ivan K; Lupski, James R; Garza-Flores, Alexandra; McGlothlin, Jeffery; Yang, Lin; Huang, Shaoping; Wang, Xiaodong; Jewett, Tamison; Rosso, Gretchen; Lin, Xi; Mohammed, Shehla; Merritt, J Lawrence; Mirzaa, Ghayda M; Timms, Andrew E; Scheck, Joshua.

Genet Med ; 23(11): 2122-2137, 2021 11.

Artigo em Inglês | MEDLINE | ID: mdl-34345025

7.

The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children.

Freed, Amanda S; Clowes Candadai, Sarah V; Sikes, Megan C; Thies, Jenny; Byers, Heather M; Dines, Jennifer N; Ndugga-Kabuye, Mesaki Kenneth; Smith, Mallory B; Fogus, Katie; Mefford, Heather C; Lam, Christina; Adam, Margaret P; Sun, Angela; McGuire, John K; DiGeronimo, Robert; Dipple, Katrina M; Deutsch, Gail H; Billimoria, Zeenia C; Bennett, James T.

J Pediatr ; 226: 202-212.e1, 2020 11.

Artigo em Inglês | MEDLINE | ID: mdl-32553838

8.

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.

Wenger, Tara L; Bly, Randall A; Wu, Natalie; Albert, Catherine M; Park, Julie; Shieh, Joseph; Chenbhanich, Jirat; Heike, Carrie L; Adam, Margaret P; Chang, Irene; Sun, Angela; Miller, Danny E; Beck, Anita E; Gupta, Deepti; Boos, Markus D; Zackai, Elaine H; Everman, David; Ganapathi, Shireen; Wilson, Meredith; Christodoulou, John; Zarate, Yuri A; Curry, Cynthia; Li, Dong; Guimier, Anne; Amiel, Jeanne; Hakonarson, Hakon; Webster, Richard; Bhoj, Elizabeth J; Perkins, Jonathan A; Dahl, John P; Dobyns, William B.

Am J Med Genet A ; 182(7): 1576-1591, 2020 07.

Artigo em Inglês | MEDLINE | ID: mdl-32500973

9.

Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.

Dines, Jennifer N; Golden-Grant, Katie; LaCroix, Amy; Muir, Alison M; Cintrón, Dianne Laboy; McWalter, Kirsty; Cho, Megan T; Sun, Angela; Merritt, J Lawrence; Thies, Jenny; Niyazov, Dmitriy; Burton, Barbara; Kim, Katherine; Fleming, Leah; Westman, Rachel; Karachunski, Peter; Dalton, Joline; Basinger, Alice; Ficicioglu, Can; Helbig, Ingo; Pendziwiat, Manuela; Muhle, Hiltrud; Helbig, Katherine L; Caliebe, Almuth; Santer, René; Becker, Kolja; Suchy, Sharon; Douglas, Ganka; Millan, Francisca; Begtrup, Amber; Monaghan, Kristin G; Mefford, Heather C.

Genet Med ; 21(8): 1899, 2019 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-30327536

10.

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.

Dines, Jennifer N; Golden-Grant, Katie; LaCroix, Amy; Muir, Alison M; Cintrón, Dianne Laboy; McWalter, Kirsty; Cho, Megan T; Sun, Angela; Merritt, J Lawrence; Thies, Jenny; Niyazov, Dmitriy; Burton, Barbara; Kim, Katherine; Fleming, Leah; Westman, Rachel; Karachunski, Peter; Dalton, Joline; Basinger, Alice; Ficicioglu, Can; Helbig, Ingo; Pendziwiat, Manuela; Muhle, Hiltrud; Helbig, Katherine L; Caliebe, Almuth; Santer, René; Becker, Kolja; Suchy, Sharon; Douglas, Ganka; Millan, Francisca; Begtrup, Amber; Monaghan, Kristin G; Mefford, Heather C.

Genet Med ; 21(3): 601-607, 2019 03.

Artigo em Inglês | MEDLINE | ID: mdl-30245509

11.

Development of screening strategies for the identification of paramylon-degrading enzymes.

Gissibl, Alexander; Care, Andrew; Sun, Angela; Hobba, Graham; Nevalainen, Helena; Sunna, Anwar.

J Ind Microbiol Biotechnol ; 46(6): 769-781, 2019 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-30806871

12.

A physician-initiated intervention to increase colorectal cancer screening in Chinese patients.

Sun, Angela; Tsoh, Janice Y; Tong, Elisa K; Cheng, Joyce; Chow, Edward A; Stewart, Susan L; Nguyen, Tung T.

Cancer ; 124 Suppl 7: 1568-1575, 2018 04 01.

Artigo em Inglês | MEDLINE | ID: mdl-29578594

13.

Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants.

Chang, Irene J; Sun, Angela; Bouchard, Maryse L; Kamps, Shawn E; Hale, Susan; Done, Stephen; Goldberg, Michael J; Glass, Ian A.

Am J Med Genet A ; 176(7): 1675-1679, 2018 07.

Artigo em Inglês | MEDLINE | ID: mdl-30160829

14.

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

Zarate, Yuri A; Smith-Hicks, Constance L; Greene, Carol; Abbott, Mary-Alice; Siu, Victoria M; Calhoun, Amy R U L; Pandya, Arti; Li, Chumei; Sellars, Elizabeth A; Kaylor, Julie; Bosanko, Katherine; Kalsner, Louisa; Basinger, Alice; Slavotinek, Anne M; Perry, Hazel; Saenz, Margarita; Szybowska, Marta; Wilson, Louise C; Kumar, Ajith; Brain, Caroline; Balasubramanian, Meena; Dubbs, Holly; Ortiz-Gonzalez, Xilma R; Zackai, Elaine; Stein, Quinn; Powell, Cynthia M; Schrier Vergano, Samantha; Britt, Allison; Sun, Angela; Smith, Wendy; Bebin, E Martina; Picker, Jonathan; Kirby, Amelia; Pinz, Hailey; Bombei, Hannah; Mahida, Sonal; Cohen, Julie S; Fatemi, Ali; Vernon, Hilary J; McClellan, Rebecca; Fleming, Leah R; Knyszek, Brittney; Steinraths, Michelle; Velasco Gonzalez, Cruz; Beck, Anita E; Golden-Grant, Katie L; Egense, Alena; Parikh, Aditi; Raimondi, Chantalle; Angle, Brad.

Am J Med Genet A ; 176(4): 925-935, 2018 04.

Artigo em Inglês | MEDLINE | ID: mdl-29436146

15.

Pilocytic astrocytoma with leptomeningeal spread in a patient with incontinentia pigmenti presenting with unilateral nystagmus.

Bayart, Cheryl B; Ishak, Gisele E; Finn, Laura S; Lee, Amy; Baran, Francine; Sun, Angela; Gupta, Deepti; Vitanza, Nicholas A.

Pediatr Blood Cancer ; 65(3)2018 03.

Artigo em Inglês | MEDLINE | ID: mdl-29171168

16.

COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.

Starr, Michelle C; Chang, Irene J; Finn, Laura S; Sun, Angela; Larson, Austin A; Goebel, Jens; Hanevold, Coral; Thies, Jenny; Van Hove, Johan L K; Hingorani, Sangeeta R; Lam, Christina.

Pediatr Nephrol ; 33(7): 1257-1261, 2018 07.

Artigo em Inglês | MEDLINE | ID: mdl-29637272

17.

Comparative assessment of the Euglena gracilis var. saccharophila variant strain as a producer of the ß-1,3-glucan paramylon under varying light conditions.

Sun, Angela; Hasan, Mafruha Tasnin; Hobba, Graham; Nevalainen, Helena; Te'o, Junior.

J Phycol ; 54(4): 529-538, 2018 08.

Artigo em Inglês | MEDLINE | ID: mdl-29889303

18.

A lasting imprint.

Sun, Angela.

Am J Med Genet A ; 185(9): 2649, 2021 09.

Artigo em Inglês | MEDLINE | ID: mdl-33871918

19.

Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).

Bi, Weimin; Glass, Ian A; Muzny, Donna M; Gibbs, Richard A; Eng, Christine M; Yang, Yaping; Sun, Angela.

Am J Med Genet A ; 170(8): 2181-5, 2016 08.

Artigo em Inglês | MEDLINE | ID: mdl-27170158

20.

A Social Network Family-Focused Intervention to Promote Smoking Cessation in Chinese and Vietnamese American Male Smokers: A Feasibility Study.

Tsoh, Janice Y; Burke, Nancy J; Gildengorin, Ginny; Wong, Ching; Le, Khanh; Nguyen, Anthony; Chan, Joanne L; Sun, Angela; McPhee, Stephen J; Nguyen, Tung T.

Nicotine Tob Res ; 17(8): 1029-38, 2015 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-26180229

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