Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network.

Mukherjee, Souhrid; Cogan, Joy D; Newman, John H; Phillips, John A; Hamid, Rizwan; Meiler, Jens; Capra, John A.

Am J Hum Genet ; 108(10): 1946-1963, 2021 10 07.

Artigo em Inglês | MEDLINE | ID: mdl-34529933

2.

A medical odyssey of a 72-year-old man with Charcot-Marie-Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency.

Furuta, Yutaka; Nelson, Erica T; Neumann, Serena M; Phillips, John A; Hamid, Rizwan; Tinker, Rory J; Cogan, Joy D; Rives, Lynette; Newman, John H.

Am J Med Genet A ; 191(12): 2873-2877, 2023 12.

Artigo em Inglês | MEDLINE | ID: mdl-37622199

3.

Characterization of Immunopathology and Small Airway Remodeling in Constrictive Bronchiolitis.

Gutor, Sergey S; Richmond, Bradley W; Du, Rui-Hong; Wu, Pingsheng; Lee, Jae Woo; Ware, Lorraine B; Shaver, Ciara M; Novitskiy, Sergey V; Johnson, Joyce E; Newman, John H; Rennard, Stephen I; Miller, Robert F; Blackwell, Timothy S; Polosukhin, Vasiliy V.

Am J Respir Crit Care Med ; 206(3): 260-270, 2022 08 01.

Artigo em Inglês | MEDLINE | ID: mdl-35550018

4.

BMPR2 dysfunction impairs insulin signaling and glucose homeostasis in cardiomyocytes.

Hemnes, Anna R; Fessel, Joshua P; Chen, Xinping; Zhu, Shijun; Fortune, Niki L; Jetter, Christopher; Freeman, Michael; Newman, John H; West, James D; Talati, Megha H.

Am J Physiol Lung Cell Mol Physiol ; 318(2): L429-L441, 2020 02 01.

Artigo em Inglês | MEDLINE | ID: mdl-31850803

5.

Limitations of exome sequencing in detecting rare and undiagnosed diseases.

Burdick, Kendall J; Cogan, Joy D; Rives, Lynette C; Robertson, Amy K; Koziura, Mary E; Brokamp, Elly; Duncan, Laura; Hannig, Vickie; Pfotenhauer, Jean; Vanzo, Rena; Paul, Michael S; Bican, Anna; Morgan, Thomas; Duis, Jessica; Newman, John H; Hamid, Rizwan; Phillips, John A.

Am J Med Genet A ; 182(6): 1400-1406, 2020 06.

Artigo em Inglês | MEDLINE | ID: mdl-32190976

6.

Molecular Rescue in Pulmonary Arterial Hypertension.

Newman, John H.

N Engl J Med ; 384(13): 1271-1272, 2021 04 01.

Artigo em Inglês | MEDLINE | ID: mdl-33789018

7.

A potential therapeutic role for angiotensin-converting enzyme 2 in human pulmonary arterial hypertension.

Hemnes, Anna R; Rathinasabapathy, Anandharajan; Austin, Eric A; Brittain, Evan L; Carrier, Erica J; Chen, Xinping; Fessel, Joshua P; Fike, Candice D; Fong, Peter; Fortune, Niki; Gerszten, Robert E; Johnson, Jennifer A; Kaplowitz, Mark; Newman, John H; Piana, Robert; Pugh, Meredith E; Rice, Todd W; Robbins, Ivan M; Wheeler, Lisa; Yu, Chang; Loyd, James E; West, James.

Eur Respir J ; 51(6)2018 06.

Artigo em Inglês | MEDLINE | ID: mdl-29903860

8.

Phenotypic heterogeneity of ZMPSTE24 deficiency.

Cassini, Thomas A; Robertson, Amy K; Bican, Anna G; Cogan, Joy D; Hannig, Vickie L; Newman, John H; Hamid, Rizwan; Phillips, John A.

Am J Med Genet A ; 176(5): 1175-1179, 2018 05.

Artigo em Inglês | MEDLINE | ID: mdl-29341437

9.

Enhancing Insights into Pulmonary Vascular Disease through a Precision Medicine Approach. A Joint NHLBI-Cardiovascular Medical Research and Education Fund Workshop Report.

Newman, John H; Rich, Stuart; Abman, Steven H; Alexander, John H; Barnard, John; Beck, Gerald J; Benza, Raymond L; Bull, Todd M; Chan, Stephen Y; Chun, Hyung J; Doogan, Declan; Dupuis, Jocelyn; Erzurum, Serpil C; Frantz, Robert P; Geraci, Mark; Gillies, Hunter; Gladwin, Mark; Gray, Michael P; Hemnes, Anna R; Herbst, Roy S; Hernandez, Adrian F; Hill, Nicholas S; Horn, Evelyn M; Hunter, Kendall; Jing, Zhi-Cheng; Johns, Roger; Kaul, Sanjay; Kawut, Steven M; Lahm, Tim; Leopold, Jane A; Lewis, Greg D; Mathai, Stephen C; McLaughlin, Vallerie V; Michelakis, Evangelos D; Nathan, Steven D; Nichols, William; Page, Grier; Rabinovitch, Marlene; Rich, Jonathan; Rischard, Franz; Rounds, Sharon; Shah, Sanjiv J; Tapson, Victor F; Lowy, Naomi; Stockbridge, Norman; Weinmann, Gail; Xiao, Lei.

Am J Respir Crit Care Med ; 195(12): 1661-1670, 2017 06 15.

Artigo em Inglês | MEDLINE | ID: mdl-28430547

10.

Fatty Acid Metabolic Defects and Right Ventricular Lipotoxicity in Human Pulmonary Arterial Hypertension.

Brittain, Evan L; Talati, Megha; Fessel, Joshua P; Zhu, He; Penner, Niki; Calcutt, M Wade; West, James D; Funke, Mitch; Lewis, Gregory D; Gerszten, Robert E; Hamid, Rizwan; Pugh, Meredith E; Austin, Eric D; Newman, John H; Hemnes, Anna R.

Circulation ; 133(20): 1936-44, 2016 May 17.

Artigo em Inglês | MEDLINE | ID: mdl-27006481

11.

Mechanisms of Lipid Accumulation in the Bone Morphogenetic Protein Receptor Type 2 Mutant Right Ventricle.

Talati, Megha H; Brittain, Evan L; Fessel, Joshua P; Penner, Niki; Atkinson, James; Funke, Mitch; Grueter, Carrie; Jerome, W Gray; Freeman, Michael; Newman, John H; West, James; Hemnes, Anna R.

Am J Respir Crit Care Med ; 194(6): 719-28, 2016 09 15.

Artigo em Inglês | MEDLINE | ID: mdl-27077479

12.

Critical Genomic Networks and Vasoreactive Variants in Idiopathic Pulmonary Arterial Hypertension.

Hemnes, Anna R; Zhao, Min; West, James; Newman, John H; Rich, Stuart; Archer, Stephen L; Robbins, Ivan M; Blackwell, Timothy S; Cogan, Joy; Loyd, James E; Zhao, Zhongming; Gaskill, Christa; Jetter, Christopher; Kropski, Jonathan A; Majka, Susan M; Austin, Eric D.

Am J Respir Crit Care Med ; 194(4): 464-75, 2016 08 15.

Artigo em Inglês | MEDLINE | ID: mdl-26926454

13.

Peripheral blood signature of vasodilator-responsive pulmonary arterial hypertension.

Hemnes, Anna R; Trammell, Aaron W; Archer, Stephen L; Rich, Stuart; Yu, Chang; Nian, Hui; Penner, Niki; Funke, Mitchell; Wheeler, Lisa; Robbins, Ivan M; Austin, Eric D; Newman, John H; West, James.

Circulation ; 131(4): 401-9; discussion 409, 2015 Jan 27.

Artigo em Inglês | MEDLINE | ID: mdl-25361553

14.

One is the loneliest number: genotypic matchmaking using the electronic health record.

Brokamp, Elly; Koziura, Mary E; Phillips, John A; Tang, Leigh Anne; Cogan, Joy D; Rives, Lynette C; Robertson, Amy K; Duncan, Laura; Bican, Anna; Peterson, Josh F; Newman, John H; Hamid, Rizwan; Bastarache, Lisa.

Genet Med ; 23(10): 1830-1832, 2021 10.

Artigo em Inglês | MEDLINE | ID: mdl-34230636

15.

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Machado, Rajiv D; Southgate, Laura; Eichstaedt, Christina A; Aldred, Micheala A; Austin, Eric D; Best, D Hunter; Chung, Wendy K; Benjamin, Nicola; Elliott, C Gregory; Eyries, Mélanie; Fischer, Christine; Gräf, Stefan; Hinderhofer, Katrin; Humbert, Marc; Keiles, Steven B; Loyd, James E; Morrell, Nicholas W; Newman, John H; Soubrier, Florent; Trembath, Richard C; Viales, Rebecca Rodríguez; Grünig, Ekkehard.

Hum Mutat ; 36(12): 1113-27, 2015 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-26387786

16.

Patient Reported Kneeling Ability in Fixed and Mobile Bearing Knee Arthroplasty.

Artz, Neil J; Hassaballa, Mo A; Robinson, James R; Newman, John H; Porteous, Andrew J; Murray, James R D.

J Arthroplasty ; 30(12): 2159-63, 2015 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-26362784

17.

Constrictive bronchiolitis in soldiers returning from Iraq and Afghanistan.

King, Matthew S; Eisenberg, Rosana; Newman, John H; Tolle, James J; Harrell, Frank E; Nian, Hui; Ninan, Mathew; Lambright, Eric S; Sheller, James R; Johnson, Joyce E; Miller, Robert F.

N Engl J Med ; 365(3): 222-30, 2011 Jul 21.

Artigo em Inglês | MEDLINE | ID: mdl-21774710

18.

PVDOMICS: A Multi-Center Study to Improve Understanding of Pulmonary Vascular Disease Through Phenomics.

Hemnes, Anna R; Beck, Gerald J; Newman, John H; Abidov, Aiden; Aldred, Micheala A; Barnard, John; Berman Rosenzweig, Erika; Borlaug, Barry A; Chung, Wendy K; Comhair, Suzy A A; Erzurum, Serpil C; Frantz, Robert P; Gray, Michael P; Grunig, Gabriele; Hassoun, Paul M; Hill, Nicholas S; Horn, Evelyn M; Hu, Bo; Lempel, Jason K; Maron, Bradley A; Mathai, Stephen C; Olman, Mitchell A; Rischard, Franz P; Systrom, David M; Tang, W H Wilson; Waxman, Aaron B; Xiao, Lei; Yuan, Jason X-J; Leopold, Jane A.

Circ Res ; 121(10): 1136-1139, 2017 10 27.

Artigo em Inglês | MEDLINE | ID: mdl-29074534

19.

The Light at the End of the Long Pulmonary Hypertension Tunnel Brightens.

Voelkel, Norbert F; Newman, John H.

Am J Respir Crit Care Med ; 198(6): 818-820, 2018 09 15.

Artigo em Inglês | MEDLINE | ID: mdl-29944843

20.

[Genetics and genomics of pulmonary arterial hypertension]. / Pulmoner arter hipertansiyonun genetik ve genomikleri.

Soubrier, Florent; Chung, Wendy K; Machado, Rajiv; Grünig, Ekkehard; Aldred, Micheala; Geraci, Mark; Loyd, James E; Elliott, C Gregory; Trembath, Richard C; Newman, John H; Humbert, Marc.

Turk Kardiyol Dern Ars ; 42 Suppl 1: 17-28, 2014 Oct.

Artigo em Turco | MEDLINE | ID: mdl-25697031

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