Pesquisa | Biblioteca Virtual em Saúde

1.

Mosaicism in Human Health and Disease.

Thorpe, Jeremy; Osei-Owusu, Ikeoluwa A; Avigdor, Bracha Erlanger; Tupler, Rossella; Pevsner, Jonathan.

Annu Rev Genet ; 54: 487-510, 2020 11 23.

Artigo em Inglês | MEDLINE | ID: mdl-32916079

2.

A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome.

Fjær, Roar; Marciniak, Katarzyna; Sundnes, Olav; Hjorthaug, Hanne; Sheng, Ying; Hammarström, Clara; Sitek, Jan Cezary; Vigeland, Magnus Dehli; Backe, Paul Hoff; Øye, Ane-Marte; Fosse, Johanna Hol; Stav-Noraas, Tor Espen; Uchiyama, Yuri; Matsumoto, Naomichi; Comi, Anne; Pevsner, Jonathan; Haraldsen, Guttorm; Selmer, Kaja Kristine.

Hum Mol Genet ; 30(21): 1919-1931, 2021 10 13.

Artigo em Inglês | MEDLINE | ID: mdl-34124757

3.

Endothelial GNAQ p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels.

Huang, Lan; Bichsel, Colette; Norris, Alexis L; Thorpe, Jeremy; Pevsner, Jonathan; Alexandrescu, Sanda; Pinto, Anna; Zurakowski, David; Kleiman, Robin J; Sahin, Mustafa; Greene, Arin K; Bischoff, Joyce.

Arterioscler Thromb Vasc Biol ; 42(1): e27-e43, 2022 01.

Artigo em Inglês | MEDLINE | ID: mdl-34670408

4.

Long-read single-molecule maps of the functional methylome.

Sharim, Hila; Grunwald, Assaf; Gabrieli, Tslil; Michaeli, Yael; Margalit, Sapir; Torchinsky, Dmitry; Arielly, Rani; Nifker, Gil; Juhasz, Matyas; Gularek, Felix; Almalvez, Miguel; Dufault, Brandon; Chandra, Sreetama Sen; Liu, Alexander; Bhattacharya, Surajit; Chen, Yi-Wen; Vilain, Eric; Wagner, Kathryn R; Pevsner, Jonathan; Reifenberger, Jeff; Lam, Ernest T; Hastie, Alex R; Cao, Han; Barseghyan, Hayk; Weinhold, Elmar; Ebenstein, Yuval.

Genome Res ; 29(4): 646-656, 2019 04.

Artigo em Inglês | MEDLINE | ID: mdl-30846530

5.

Leonardo da Vinci's studies of the brain.

Pevsner, Jonathan.

Lancet ; 393(10179): 1465-1472, 2019 Apr 06.

Artigo em Inglês | MEDLINE | ID: mdl-30967217

6.

Sturge-Weber Syndrome Patient Registry: Delayed Diagnosis and Poor Seizure Control.

Cho, Soonweng; Maharathi, Biswajit; Ball, Karen L; Loeb, Jeffrey A; Pevsner, Jonathan.

J Pediatr ; 215: 158-163.e6, 2019 12.

Artigo em Inglês | MEDLINE | ID: mdl-31587863

7.

The Contribution of Mosaic Variants to Autism Spectrum Disorder.

Freed, Donald; Pevsner, Jonathan.

PLoS Genet ; 12(9): e1006245, 2016 09.

Artigo em Inglês | MEDLINE | ID: mdl-27632392

8.

Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.

Theisen, Benjamin E; Rumyantseva, Anastasia; Cohen, Julie S; Alcaraz, Wendy A; Shinde, Deepali N; Tang, Sha; Srivastava, Siddarth; Pevsner, Jonathan; Trifunovic, Aleksandra; Fatemi, Ali.

Am J Med Genet A ; 173(9): 2505-2510, 2017 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-28650581

9.

Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.

Shirley, Matthew D; Tang, Hao; Gallione, Carol J; Baugher, Joseph D; Frelin, Laurence P; Cohen, Bernard; North, Paula E; Marchuk, Douglas A; Comi, Anne M; Pevsner, Jonathan.

N Engl J Med ; 368(21): 1971-9, 2013 May 23.

Artigo em Inglês | MEDLINE | ID: mdl-23656586

10.

HIF-dependent antitumorigenic effect of antioxidants in vivo.

Gao, Ping; Zhang, Huafeng; Dinavahi, Ramani; Li, Feng; Xiang, Yan; Raman, Venu; Bhujwalla, Zaver M; Felsher, Dean W; Cheng, Linzhao; Pevsner, Jonathan; Lee, Linda A; Semenza, Gregg L; Dang, Chi V.

Cancer Cell ; 12(3): 230-8, 2007 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-17785204

11.

A novel variant in GABRB2 associated with intellectual disability and epilepsy.

Srivastava, Siddharth; Cohen, Julie; Pevsner, Jonathan; Aradhya, Swaroop; McKnight, Dianalee; Butler, Elizabeth; Johnston, Michael; Fatemi, Ali.

Am J Med Genet A ; 164A(11): 2914-21, 2014 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-25124326

12.

Inference of relationships in population data using identity-by-descent and identity-by-state.

Stevens, Eric L; Heckenberg, Greg; Roberson, Elisha D O; Baugher, Joseph D; Downey, Thomas J; Pevsner, Jonathan.

PLoS Genet ; 7(9): e1002287, 2011 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-21966277

13.

Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method.

Baugher, Joseph D; Baugher, Benjamin D; Shirley, Matthew D; Pevsner, Jonathan.

BMC Genomics ; 14: 367, 2013 May 31.

Artigo em Inglês | MEDLINE | ID: mdl-23724825

14.

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.

Sobreira, Nara L M; Cirulli, Elizabeth T; Avramopoulos, Dimitrios; Wohler, Elizabeth; Oswald, Gretchen L; Stevens, Eric L; Ge, Dongliang; Shianna, Kevin V; Smith, Jason P; Maia, Jessica M; Gumbs, Curtis E; Pevsner, Jonathan; Thomas, George; Valle, David; Hoover-Fong, Julie E; Goldstein, David B.

PLoS Genet ; 6(6): e1000991, 2010 Jun 17.

Artigo em Inglês | MEDLINE | ID: mdl-20577567

15.

Chromosomal variation in lymphoblastoid cell lines.

Shirley, Matthew D; Baugher, Joseph D; Stevens, Eric L; Tang, Zhenya; Gerry, Norman; Beiswanger, Christine M; Berlin, Dorit S; Pevsner, Jonathan.

Hum Mutat ; 33(7): 1075-86, 2012 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-22374857

16.

Performance assessment of copy number microarray platforms using a spike-in experiment.

Halper-Stromberg, Eitan; Frelin, Laurence; Ruczinski, Ingo; Scharpf, Robert; Jie, Chunfa; Carvalho, Benilton; Hao, Haiping; Hetrick, Kurt; Jedlicka, Anne; Dziedzic, Amanda; Doheny, Kim; Scott, Alan F; Baylin, Steve; Pevsner, Jonathan; Spencer, Forrest; Irizarry, Rafael A.

Bioinformatics ; 27(8): 1052-60, 2011 Apr 15.

Artigo em Inglês | MEDLINE | ID: mdl-21478196

17.

Dysfunction of mitochondria and GABAergic interneurons in the anterior cingulate cortex of individuals with schizophrenia.

Kondo, Mari A; Norris, Alexis L; Yang, Kun; Cheshire, Madeline; Newkirk, Isabelle; Chen, Xiangning; Ishizuka, Koko; Jaffe, Andrew E; Sawa, Akira; Pevsner, Jonathan.

Neurosci Res ; 185: 67-72, 2022 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-36162734

18.

Comprehensive identification of somatic nucleotide variants in human brain tissue.

Wang, Yifan; Bae, Taejeong; Thorpe, Jeremy; Sherman, Maxwell A; Jones, Attila G; Cho, Sean; Daily, Kenneth; Dou, Yanmei; Ganz, Javier; Galor, Alon; Lobon, Irene; Pattni, Reenal; Rosenbluh, Chaggai; Tomasi, Simone; Tomasini, Livia; Yang, Xiaoxu; Zhou, Bo; Akbarian, Schahram; Ball, Laurel L; Bizzotto, Sara; Emery, Sarah B; Doan, Ryan; Fasching, Liana; Jang, Yeongjun; Juan, David; Lizano, Esther; Luquette, Lovelace J; Moldovan, John B; Narurkar, Rujuta; Oetjens, Matthew T; Rodin, Rachel E; Sekar, Shobana; Shin, Joo Heon; Soriano, Eduardo; Straub, Richard E; Zhou, Weichen; Chess, Andrew; Gleeson, Joseph G; Marquès-Bonet, Tomas; Park, Peter J; Peters, Mette A; Pevsner, Jonathan; Walsh, Christopher A; Weinberger, Daniel R; Vaccarino, Flora M; Moran, John V; Urban, Alexander E; Kidd, Jeffrey M; Mills, Ryan E; Abyzov, Alexej.

Genome Biol ; 22(1): 92, 2021 03 29.

Artigo em Inglês | MEDLINE | ID: mdl-33781308

19.

DNA methylation signatures within the human brain.

Ladd-Acosta, Christine; Pevsner, Jonathan; Sabunciyan, Sarven; Yolken, Robert H; Webster, Maree J; Dinkins, Tiffany; Callinan, Pauline A; Fan, Jian-Bing; Potash, James B; Feinberg, Andrew P.

Am J Hum Genet ; 81(6): 1304-15, 2007 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-17999367

20.

Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury.

Osei-Owusu, Ikeoluwa A; Norris, Alexis L; Joynt, Anya T; Thorpe, Jeremy; Cho, Soonweng; Tierney, Elaine; Schmidt, Jonathan; Hagopian, Louis; Harris, Jacqueline; Pevsner, Jonathan.

Cold Spring Harb Mol Case Stud ; 6(6)2020 12.

Artigo em Inglês | MEDLINE | ID: mdl-33335013

Biblioteca Virtual em Saúde

Saúde Pública Brasil

Sua seleção (0)

Formato de exportação:

Exportar: