Pesquisa | Portal de Pesquisa da BVS

1.

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.

Stenton, Sarah L; O'Leary, Melanie C; Lemire, Gabrielle; VanNoy, Grace E; DiTroia, Stephanie; Ganesh, Vijay S; Groopman, Emily; O'Heir, Emily; Mangilog, Brian; Osei-Owusu, Ikeoluwa; Pais, Lynn S; Serrano, Jillian; Singer-Berk, Moriel; Weisburd, Ben; Wilson, Michael W; Austin-Tse, Christina; Abdelhakim, Marwa; Althagafi, Azza; Babbi, Giulia; Bellazzi, Riccardo; Bovo, Samuele; Carta, Maria Giulia; Casadio, Rita; Coenen, Pieter-Jan; De Paoli, Federica; Floris, Matteo; Gajapathy, Manavalan; Hoehndorf, Robert; Jacobsen, Julius O B; Joseph, Thomas; Kamandula, Akash; Katsonis, Panagiotis; Kint, Cyrielle; Lichtarge, Olivier; Limongelli, Ivan; Lu, Yulan; Magni, Paolo; Mamidi, Tarun Karthik Kumar; Martelli, Pier Luigi; Mulargia, Marta; Nicora, Giovanna; Nykamp, Keith; Pejaver, Vikas; Peng, Yisu; Pham, Thi Hong Cam; Podda, Maurizio S; Rao, Aditya; Rizzo, Ettore; Saipradeep, Vangala G; Savojardo, Castrense.

Hum Genomics ; 18(1): 44, 2024 Apr 29.

Artigo em Inglês | MEDLINE | ID: mdl-38685113

2.

The p53-Mdm2 interaction and the E3 ligase activity of Mdm2/Mdm4 are conserved from lampreys to humans.

Coffill, Cynthia R; Lee, Alison P; Siau, Jia Wei; Chee, Sharon M; Joseph, Thomas L; Tan, Yaw Sing; Madhumalar, Arumugam; Tay, Boon-Hui; Brenner, Sydney; Verma, Chandra S; Ghadessy, Farid J; Venkatesh, Byrappa; Lane, David P.

Genes Dev ; 30(3): 281-92, 2016 Feb 01.

Artigo em Inglês | MEDLINE | ID: mdl-26798135

3.

Peak density of immature nerve cells occurs with high-grade dysplasia in intraductal papillary mucinous neoplasms of the pancreas.

Trinh, Vincent Quoc-Huy; Roland, Joseph Thomas; Wong, Jahg; Revetta, Frank; Patel, Krutika; Shi, Chanjuan; DelGiorno, Kathleen E; Carter, Bruce D; Tan, Marcus Chuan Beng.

J Pathol ; 258(1): 69-82, 2022 09.

Artigo em Inglês | MEDLINE | ID: mdl-35686747

4.

Microtia Reconstruction: Our Strategies to Improve the Outcomes.

Sharma, Mohit; G, Srilekha Reddy; Kongara, Shruti; Jain, Vasundhara; K S, Shravan Rai; Harijee, Ankita; Badam, Abhinandan; Maharaja, Nirav G; Joseph, Thomas; R, Janarthanan; Iyer, Subramania.

Indian J Plast Surg ; 56(2): 130-137, 2023 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-37153348

5.

Flavonoids improve the stability and function of P23H rhodopsin slowing down the progression of retinitis pigmentosa in mice.

Ortega, Joseph Thomas; Parmar, Tanu; Carmena-Bargueño, Miguel; Pérez-Sánchez, Horacio; Jastrzebska, Beata.

J Neurosci Res ; 100(4): 1063-1083, 2022 04.

Artigo em Inglês | MEDLINE | ID: mdl-35165923

6.

Rapid response to the alpha-1 adrenergic agent phenylephrine in the perioperative period is impacted by genomics and ancestry.

Wenric, Stephane; Jeff, Janina M; Joseph, Thomas; Yee, Muh-Ching; Belbin, Gillian M; Owusu Obeng, Aniwaa; Ellis, Stephen B; Bottinger, Erwin P; Gottesman, Omri; Levin, Matthew A; Kenny, Eimear E.

Pharmacogenomics J ; 21(2): 174-189, 2021 04.

Artigo em Inglês | MEDLINE | ID: mdl-33168928

7.

The Current UK Consensus on the Management of Weber B and Posterior Ankle Fractures: A Questionnaire Study as Part of the Acute Management of Ankle Fractures (AUGMENT) Audit.

Gourbault, Lysander James; Fennelly, Joseph Thomas; Stedman, Tobias; Price, Michael James; Ward, Alex Elizabeth.

J Foot Ankle Surg ; 60(4): 669-675, 2021.

Artigo em Inglês | MEDLINE | ID: mdl-33573901

8.

The regulatory TnaC nascent peptide preferentially inhibits release factor 2-mediated hydrolysis of peptidyl-tRNA.

Emmanuel, Jerusha Salome; Sengupta, Arnab; Gordon, Emily Roth; Noble, Joseph Thomas; Cruz-Vera, Luis Rogelio.

J Biol Chem ; 294(50): 19224-19235, 2019 12 13.

Artigo em Inglês | MEDLINE | ID: mdl-31712310

9.

CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.

Kasak, Laura; Hunter, Jesse M; Udani, Rupa; Bakolitsa, Constantina; Hu, Zhiqiang; Adhikari, Aashish N; Babbi, Giulia; Casadio, Rita; Gough, Julian; Guerrero, Rafael F; Jiang, Yuxiang; Joseph, Thomas; Katsonis, Panagiotis; Kotte, Sujatha; Kundu, Kunal; Lichtarge, Olivier; Martelli, Pier Luigi; Mooney, Sean D; Moult, John; Pal, Lipika R; Poitras, Jennifer; Radivojac, Predrag; Rao, Aditya; Sivadasan, Naveen; Sunderam, Uma; Saipradeep, V G; Yin, Yizhou; Zaucha, Jan; Brenner, Steven E; Meyn, M Stephen.

Hum Mutat ; 40(9): 1373-1391, 2019 09.

Artigo em Inglês | MEDLINE | ID: mdl-31322791

10.

Discovering Putative Protein Targets of Small Molecules: A Study of the p53 Activator Nutlin.

Nguyen, Minh N; Sen, Neeladri; Lin, Meiyin; Joseph, Thomas Leonard; Vaz, Candida; Tanavde, Vivek; Way, Luke; Hupp, Ted; Verma, Chandra S; Madhusudhan, M S.

J Chem Inf Model ; 59(4): 1529-1546, 2019 04 22.

Artigo em Inglês | MEDLINE | ID: mdl-30794402

11.

Preoperative QTc Interval is Not Associated With Intraoperative Cardiac Events or Mortality in Liver Transplantation Patients.

Flaherty, Devon; Kim, Sang; Zerillo, Jeron; Park, Chang; Joseph, Thomas; Hill, Bryan; Lin, Hung-Mo; Li, Jiawen; Hamsher, Carlyle; Weiner, Menachem M; DeMaria, Samuel.

J Cardiothorac Vasc Anesth ; 33(4): 961-966, 2019 04.

Artigo em Inglês | MEDLINE | ID: mdl-30097315

12.

An Automated Critical Event Screening and Notification System to Facilitate Preanesthesia Record Review.

Wax, David B; McCormick, Patrick J; Joseph, Thomas T; Levin, Matthew A.

Anesth Analg ; 126(2): 606-610, 2018 02.

Artigo em Inglês | MEDLINE | ID: mdl-29053113

13.

Multispot launching for single-mode excitation in multimode fibers for high-speed applications.

Joseph, Thomas; John, Joseph.

Appl Opt ; 57(19): 5307-5313, 2018 Jul 01.

Artigo em Inglês | MEDLINE | ID: mdl-30117819

14.

Demographic and Practice Characteristics of Physicians Who Care for Medically Underserved People: A National Survey.

Labbe, Jonathan J; Tak, Hyo Jung; Kwon, Junmo; Joseph, Thomas; Abraham, Joseph; Yoon, John D.

South Med J ; 111(12): 763-766, 2018 12.

Artigo em Inglês | MEDLINE | ID: mdl-30512131

15.

iGAS: A framework for using electronic intraoperative medical records for genomic discovery.

Levin, Matthew A; Joseph, Thomas T; Jeff, Janina M; Nadukuru, Rajiv; Ellis, Stephen B; Bottinger, Erwin P; Kenny, Eimear E.

J Biomed Inform ; 67: 80-89, 2017 03.

Artigo em Inglês | MEDLINE | ID: mdl-28193464

16.

Modified twin-spot launching: an improved launching technique for enhancing data rates in multimode fiber.

Joseph, Thomas; John, Joseph.

Appl Opt ; 56(4): 838-846, 2017 Feb 01.

Artigo em Inglês | MEDLINE | ID: mdl-28158084

17.

A Retrospective Study of Success, Failure, and Time Needed to Perform Awake Intubation.

Joseph, Thomas T; Gal, Jonathan S; DeMaria, Samuel; Lin, Hung-Mo; Levine, Adam I; Hyman, Jaime B.

Anesthesiology ; 125(1): 105-14, 2016 07.

Artigo em Inglês | MEDLINE | ID: mdl-27111535

18.

The Role of Oligosaccharides in Host-Microbial Interactions for Human Health.

Ross, Sarah A; Lane, Jonathan A; Marotta, Mariarosaria; Kavanaugh, Devon; Ryan, Joseph Thomas; Joshi, Lokesh; Hickey, Rita M.

J Clin Gastroenterol ; 50 Suppl 2, Proceedings from the 8th Probiotics, Prebiotics & New Foods for Microbiota and Human Health meeting held in Rome, Italy on September 13-15, 2015: S131-S132, 2016.

Artigo em Inglês | MEDLINE | ID: mdl-27741156

19.

Editorial Comment.

Mahon, Joseph Thomas.

J Urol ; 204(3): 544, 2020 09.

Artigo em Inglês | MEDLINE | ID: mdl-32574510

20.

A Web-Based Perioperative Dashboard as a Platform for Anesthesia Informatics Innovation.

Joseph, Thomas T; Wax, David B; Goldstein, Raymond; Huang, Jia; McCormick, Patrick J; Levin, Matthew A.

Anesth Analg ; 131(5): 1640-1645, 2020 11.

Artigo em Inglês | MEDLINE | ID: mdl-33079890

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