Pesquisa | Secretaria de Estado da Saúde

1.

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

Gennarino, Vincenzo A; Palmer, Elizabeth E; McDonell, Laura M; Wang, Li; Adamski, Carolyn J; Koire, Amanda; See, Lauren; Chen, Chun-An; Schaaf, Christian P; Rosenfeld, Jill A; Panzer, Jessica A; Moog, Ute; Hao, Shuang; Bye, Ann; Kirk, Edwin P; Stankiewicz, Pawel; Breman, Amy M; McBride, Arran; Kandula, Tejaswi; Dubbs, Holly A; Macintosh, Rebecca; Cardamone, Michael; Zhu, Ying; Ying, Kevin; Dias, Kerith-Rae; Cho, Megan T; Henderson, Lindsay B; Baskin, Berivan; Morris, Paula; Tao, Jiang; Cowley, Mark J; Dinger, Marcel E; Roscioli, Tony; Caluseriu, Oana; Suchowersky, Oksana; Sachdev, Rani K; Lichtarge, Olivier; Tang, Jianrong; Boycott, Kym M; Holder, J Lloyd; Zoghbi, Huda Y.

Cell ; 172(5): 924-936.e11, 2018 02 22.

Artigo Inglês | MEDLINE | ID: mdl-29474920

2.

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.

Pérez Baca, María Del Rocío; Jacobs, Eva Z; Vantomme, Lies; Leblanc, Pontus; Bogaert, Elke; Dheedene, Annelies; De Cock, Laurenz; Haghshenas, Sadegheh; Foroutan, Aidin; Levy, Michael A; Kerkhof, Jennifer; McConkey, Haley; Chen, Chun-An; Batzir, Nurit Assia; Wang, Xia; Palomares, María; Carels, Marieke; Dermaut, Bart; Sadikovic, Bekim; Menten, Björn; Yuan, Bo; Vergult, Sarah; Callewaert, Bert.

Am J Hum Genet ; 111(3): 509-528, 2024 Mar 07.

Artigo Inglês | MEDLINE | ID: mdl-38412861

3.

A framework for an evidence-based gene list relevant to autism spectrum disorder.

Schaaf, Christian P; Betancur, Catalina; Yuen, Ryan K C; Parr, Jeremy R; Skuse, David H; Gallagher, Louise; Bernier, Raphael A; Buchanan, Janet A; Buxbaum, Joseph D; Chen, Chun-An; Dies, Kira A; Elsabbagh, Mayada; Firth, Helen V; Frazier, Thomas; Hoang, Ny; Howe, Jennifer; Marshall, Christian R; Michaud, Jacques L; Rennie, Olivia; Szatmari, Peter; Chung, Wendy K; Bolton, Patrick F; Cook, Edwin H; Scherer, Stephen W; Vorstman, Jacob A S.

Nat Rev Genet ; 21(6): 367-376, 2020 06.

Artigo Inglês | MEDLINE | ID: mdl-32317787

4.

Tunable Single-Photon Emission with Wafer-Scale Plasmonic Array.

Chen, Chun-An; Chen, Po-Han; Zheng, Yu-Xiang; Chen, Chiao-Han; Hsu, Mong-Kai; Hsu, Kai-Chieh; Lai, Ying-Yu; Chuu, Chih-Sung; Deng, Hui; Lee, Yi-Hsien.

Nano Lett ; 24(11): 3395-3403, 2024 Mar 20.

Artigo Inglês | MEDLINE | ID: mdl-38359157

5.

The adaptability of the Pulsta valve to the diverse main pulmonary artery shape of native right ventricular outflow tract disease.

Park, Woo Young; Kim, Gi Beom; Lee, Sang Yun; Kim, Ah Young; Choi, Jae Young; Jang, So Ick; Kim, Seong Ho; Cha, Seul Gi; Wang, Jou-Kou; Lin, Ming-Tai; Chen, Chun-An.

Catheter Cardiovasc Interv ; 103(4): 587-596, 2024 03.

Artigo Inglês | MEDLINE | ID: mdl-38341624

6.

Risk Factors of Long-Term Sequelae After Transcatheter Closure of Perimembranous Ventricular Septal Defect in Young Children.

Chin, Chia-Yi; Chen, Chun-An; Fu, Chun-Min; Hsu, Jui-Yu; Lin, Hsin-Chia; Chiu, Shuenn-Nan; Chang, Ya-Mei; Lu, Chun-Wei; Chou, Heng-Wen; Huang, Shu-Chien; Chen, Yih-Sharng; Wu, Mei-Hwan; Wang, Jou-Kou; Lin, Ming-Tai.

Circ J ; 88(5): 663-671, 2024 Apr 25.

Artigo Inglês | MEDLINE | ID: mdl-38325819

7.

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.

Barish, Scott; Barakat, Tahsin Stefan; Michel, Brittany C; Mashtalir, Nazar; Phillips, Jennifer B; Valencia, Alfredo M; Ugur, Berrak; Wegner, Jeremy; Scott, Tiana M; Bostwick, Brett; Murdock, David R; Dai, Hongzheng; Perenthaler, Elena; Nikoncuk, Anita; van Slegtenhorst, Marjon; Brooks, Alice S; Keren, Boris; Nava, Caroline; Mignot, Cyril; Douglas, Jessica; Rodan, Lance; Nowak, Catherine; Ellard, Sian; Stals, Karen; Lynch, Sally Ann; Faoucher, Marie; Lesca, Gaetan; Edery, Patrick; Engleman, Kendra L; Zhou, Dihong; Thiffault, Isabelle; Herriges, John; Gass, Jennifer; Louie, Raymond J; Stolerman, Elliot; Washington, Camerun; Vetrini, Francesco; Otsubo, Aiko; Pratt, Victoria M; Conboy, Erin; Treat, Kayla; Shannon, Nora; Camacho, Jose; Wakeling, Emma; Yuan, Bo; Chen, Chun-An; Rosenfeld, Jill A; Westerfield, Monte; Wangler, Michael; Yamamoto, Shinya.

Am J Hum Genet ; 107(6): 1096-1112, 2020 12 03.

Artigo Inglês | MEDLINE | ID: mdl-33232675

8.

Changes of ECG parameters after BNT162b2 vaccine in the senior high school students.

Chiu, Shuenn-Nan; Chen, Yih-Sharng; Hsu, Chia-Chen; Hua, Yu-Chuan; Tseng, Wei-Chieh; Lu, Chun-Wei; Lin, Ming-Tai; Chen, Chun-An; Wu, Mei-Hwan; Chen, Yu-Ting; Chien, Ting-Chou Hung; Tseng, Chien-Lun; Wang, Jou-Kou.

Eur J Pediatr ; 182(3): 1155-1162, 2023 Mar.

Artigo Inglês | MEDLINE | ID: mdl-36602621

9.

Management of cardiovascular symptoms after Pfizer-BioNTech COVID-19 vaccine in teenagers in the emergency department.

Liao, Ying-Feng; Tseng, Wei-Chieh; Wang, Jou-Kou; Chen, Yih-Sharng; Chen, Chun-An; Lin, Ming-Tai; Lu, Chun-Wei; Wu, Mei-Hwan; Chiu, Shuenn-Nan.

J Formos Med Assoc ; 122(8): 699-706, 2023 Aug.

Artigo Inglês | MEDLINE | ID: mdl-36564302

10.

Outcomes of pediatric patients supported with ventricular assist devices single center experience.

Fu, Hsun-Yi; Chou, Heng-Wen; Lai, Chien-Heng; Tsao, Chuan-I; Lu, Chun-Wei; Lin, Ming-Tai; Chen, Chun-An; Chiu, Shuenn-Nan; Wang, Jou-Kou; Wu, Mei-Hwan; Wu, En-Ting; Huang, Shu-Chien; Chen, Yih-Sharng.

J Formos Med Assoc ; 122(2): 172-181, 2023 Feb.

Artigo Inglês | MEDLINE | ID: mdl-36192294

11.

Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder.

Chen, Chun-An; Pal, Rituraj; Yin, Jiani; Tao, Huifang; Amawi, Abdallah; Sabo, Aniko; Bainbridge, Matthew N; Gibbs, Richard A; Zoghbi, Huda Y; Schaaf, Christian P.

Hum Mol Genet ; 29(3): 459-470, 2020 02 01.

Artigo Inglês | MEDLINE | ID: mdl-31943016

12.

Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity.

Chen, Chun-An; Wang, Wei; Pedersen, Steen E; Raman, Ayush; Seymour, Michelle L; Ruiz, Fernanda R; Xia, Anping; van der Heijden, Meike E; Wang, Li; Yin, Jiani; Lopez, Joanna; Rech, Megan E; Lewis, Richard A; Wu, Samuel M; Liu, Zhandong; Pereira, Fred A; Pautler, Robia G; Zoghbi, Huda Y; Schaaf, Christian P.

Hum Mol Genet ; 29(5): 705-715, 2020 03 27.

Artigo Inglês | MEDLINE | ID: mdl-31600777

13.

Amyotrophic lateral sclerosis-associated Vap33 is required for maintaining neuronal dendrite morphology and organelle distribution in Drosophila.

Kamemura, Kosuke; Chen, Chun-An; Okumura, Misako; Miura, Masayuki; Chihara, Takahiro.

Genes Cells ; 26(4): 230-239, 2021 Apr.

Artigo Inglês | MEDLINE | ID: mdl-33548103

14.

Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.

Chen, Chun-An; Lattier, John; Zhu, Wenmiao; Rosenfeld, Jill; Wang, Lei; Scott, Tiana M; Du, Haowei; Patel, Vipulkumar; Dang, Anh; Magoulas, Pilar; Streff, Haley; Sebastian, Jessica; Svihovec, Shayna; Curry, Kathryn; Delgado, Mauricio R; Hanchard, Neil A; Lalani, Seema; Marom, Ronit; Madan-Khetarpal, Suneeta; Saenz, Margarita; Dai, Hongzheng; Meng, Linyan; Xia, Fan; Bi, Weimin; Liu, Pengfei; Posey, Jennifer E; Scott, Daryl A; Lupski, James R; Eng, Christine M; Xiao, Rui; Yuan, Bo.

Genet Med ; 24(2): 364-373, 2022 02.

Artigo Inglês | MEDLINE | ID: mdl-34906496

15.

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.

Riggs, Erin Rooney; Bingaman, Taylor I; Barry, Carrie-Ann; Behlmann, Andrea; Bluske, Krista; Bostwick, Bret; Bright, Alison; Chen, Chun-An; Clause, Amanda R; Dharmadhikari, Avinash V; Ganapathi, Mythily; Gonzaga-Jauregui, Claudia; Grant, Andrew R; Hughes, Madeline Y; Kim, Se Rin; Krause, Amanda; Liao, Jun; Lumaka, Aimé; Mah, Michelle; Maloney, Caitlin M; Mohan, Shruthi; Osei-Owusu, Ikeoluwa A; Reble, Emma; Rennie, Olivia; Savatt, Juliann M; Shimelis, Hermela; Siegert, Rebecca K; Sneddon, Tam P; Thaxton, Courtney; Toner, Kelly A; Tran, Kien Trung; Webb, Ryan; Wilcox, Emma H; Yin, Jiani; Zhuo, Xinming; Znidarsic, Masa; Martin, Christa Lese; Betancur, Catalina; Vorstman, Jacob A S; Miller, David T; Schaaf, Christian P.

Genet Med ; 24(9): 1899-1908, 2022 09.

Artigo Inglês | MEDLINE | ID: mdl-35616647

16.

Zero-fluoroscopy ablation of left-sided arrhythmia substrates in children - Mid-term safety and feasibility study from transaortic approach.

Tseng, Wei-Chieh; Wu, Mei-Hwan; Lu, Chun-Wei; Wu, Kun-Lang; Wang, Jou-Kou; Lin, Ming-Tai; Chen, Chun-An; Chen, Cheng-Wei; Chiu, Shuenn-Nan.

J Formos Med Assoc ; 121(10): 2035-2043, 2022 Oct.

Artigo Inglês | MEDLINE | ID: mdl-35260293

17.

Perioperative outcomes of Fontan operation: Impact of heterotaxy syndrome.

Lin, Hsin-Chia; Wu, Mei-Hwan; Wang, Jou-Kou; Lin, Ming-Tai; Chen, Chun-An; Lu, Chun-Wei; Chen, Yih-Sharng; Huang, Shu-Chien; Chiu, Shuenn-Nan.

J Formos Med Assoc ; 121(1 Pt 1): 89-97, 2022 Jan.

Artigo Inglês | MEDLINE | ID: mdl-33549407

18.

Tuning of Two-Dimensional Plasmon-Exciton Coupling in Full Parameter Space: A Polaritonic Non-Hermitian System.

Sang, Yungang; Wang, Chun-Yuan; Raja, Soniya S; Cheng, Chang-Wei; Huang, Chiao-Tzu; Chen, Chun-An; Zhang, Xin-Quan; Ahn, Hyeyoung; Shih, Chih-Kang; Lee, Yi-Hsien; Shi, Jinwei; Gwo, Shangjr.

Nano Lett ; 21(6): 2596-2602, 2021 Mar 24.

Artigo Inglês | MEDLINE | ID: mdl-33689382

19.

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.

Tokita, Mari J; Chen, Chun-An; Chitayat, David; Macnamara, Ellen; Rosenfeld, Jill A; Hanchard, Neil; Lewis, Andrea M; Brown, Chester W; Marom, Ronit; Shao, Yunru; Novacic, Danica; Wolfe, Lynne; Wahl, Colleen; Tifft, Cynthia J; Toro, Camilo; Bernstein, Jonathan A; Hale, Caitlin L; Silver, Julia; Hudgins, Louanne; Ananth, Amitha; Hanson-Kahn, Andrea; Shuster, Shirley; Magoulas, Pilar L; Patel, Vipulkumar N; Zhu, Wenmiao; Chen, Stella M; Jiang, Yanjun; Liu, Pengfei; Eng, Christine M; Batkovskyte, Dominyka; di Ronza, Alberto; Sardiello, Marco; Lee, Brendan H; Schaaf, Christian P; Yang, Yaping; Wang, Xia.

Am J Hum Genet ; 103(1): 154-162, 2018 07 05.

Artigo Inglês | MEDLINE | ID: mdl-29961569

20.

Long-term outcomes of arrhythmia and distinct electrophysiological features in congenitally corrected transposition of the great arteries in an Asian cohort.

Tseng, Wei-Chieh; Huang, Chi-Nan; Chiu, Shuenn-Nan; Lu, Chun-Wei; Wang, Jou-Kou; Lin, Ming-Tai; Chen, Chun-An; Wu, Mei-Hwan.

Am Heart J ; 231: 73-81, 2021 01.

Artigo Inglês | MEDLINE | ID: mdl-33098810

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