Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

Extent to which array genotyping and imputation with large reference panels approximate deep whole-genome sequencing.

Hanks, Sarah C; Forer, Lukas; Schönherr, Sebastian; LeFaive, Jonathon; Martins, Taylor; Welch, Ryan; Gagliano Taliun, Sarah A; Braff, David; Johnsen, Jill M; Kenny, Eimear E; Konkle, Barbara A; Laakso, Markku; Loos, Ruth F J; McCarroll, Steven; Pato, Carlos; Pato, Michele T; Smith, Albert V; Boehnke, Michael; Scott, Laura J; Fuchsberger, Christian.

Am J Hum Genet ; 109(9): 1653-1666, 2022 09 01.

Artigo em Inglês | MEDLINE | ID: mdl-35981533

2.

Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors.

Pankratz, Nathan; Wei, Peng; Brody, Jennifer A; Chen, Ming-Huei; de Vries, Paul S; Huffman, Jennifer E; Stimson, Mary Rachel; Auer, Paul L; Boerwinkle, Eric; Cushman, Mary; de Maat, Moniek P M; Folsom, Aaron R; Franco, Oscar H; Gibbs, Richard A; Haagenson, Kelly K; Hofman, Albert; Johnsen, Jill M; Kovar, Christie L; Kraaij, Robert; McKnight, Barbara; Metcalf, Ginger A; Muzny, Donna; Psaty, Bruce M; Tang, Weihong; Uitterlinden, André G; van Rooij, Jeroen G J; Dehghan, Abbas; O'Donnell, Christopher J; Reiner, Alex P; Morrison, Alanna C; Smith, Nicholas L.

Hum Mol Genet ; 31(18): 3120-3132, 2022 09 10.

Artigo em Inglês | MEDLINE | ID: mdl-35552711

3.

Women and girls with inherited bleeding disorders: Focus on haemophilia carriers and heavy menstrual bleeding.

Hermans, Cedric; Johnsen, Jill M; Curry, Nicola.

Haemophilia ; 30 Suppl 3: 45-51, 2024 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-38532560

4.

Macrophage Galactose Lectin Contributes to the Regulation of FVIII (Factor VIII) Clearance in Mice-Brief Report.

Ward, Soracha E; Guest, Thomas; Byrne, Ciara; Lopes, Patricia; O'Sullivan, Jamie M; Doherty, Dearbhla; O'Connell, David; Gutierrez Llaneza, Sara; Chion, Alain; Fazavana, Judicael; Fallon, Padraic G; Preston, Roger J S; Johnsen, Jill M; Pipe, Steven W; Turecek, Peter L; O'Donnell, James S.

Arterioscler Thromb Vasc Biol ; 43(4): 540-546, 2023 04.

Artigo em Inglês | MEDLINE | ID: mdl-36727518

5.

Sixth Åland Island Conference on von Willebrand disease.

Berntorp, Erik; Trakymiene, Sonata S; Federici, Augusto B; Holstein, Katharina; Corrales-Medina, Fernando F; Pierce, Glenn F; Srivastava, Alok; Prondzinski, Mario von Depka; Johnsen, Jill M; Zupan, Irena P; Halimeh, Susan; Nummi, Vuokko; Roberts, Jonathan C.

Haemophilia ; 28 Suppl 5: 3-15, 2022 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-35861919

6.

Whole genome sequence association with E-selectin levels reveals loss-of-function variant in African Americans.

Polfus, Linda M; Raffield, Laura M; Wheeler, Marsha M; Tracy, Russell P; Lange, Leslie A; Lettre, Guillaume; Miller, Amanda; Correa, Adolfo; Bowler, Russell P; Bis, Joshua C; Salimi, Shabnam; Jenny, Nancy Swords; Pankratz, Nathan; Wang, Biqi; Preuss, Michael H; Zhou, Lisheng; Moscati, Arden; Nadkarni, Girish N; Loos, Ruth J F; Zhong, Xue; Li, Bingshan; Johnsen, Jill M; Nickerson, Deborah A; Reiner, Alex P; Auer, Paul L.

Hum Mol Genet ; 28(3): 515-523, 2019 02 01.

Artigo em Inglês | MEDLINE | ID: mdl-30307499

7.

Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program.

Dinardo, Carla L; Oliveira, Theo G M; Kelly, Shannon; Ashley-Koch, Allison; Telen, Marilyn; Schmidt, Luciana C; Castilho, Shirley; Melo, Karla; Dezan, Marcia R; Wheeler, Marsha M; Johnsen, Jill M; Nickerson, Deborah A; Jain, Deepti; Custer, Brian; Pereira, Alexandre C; Sabino, Ester C.

Transfusion ; 61(2): 603-616, 2021 02.

Artigo em Inglês | MEDLINE | ID: mdl-33231305

8.

von Willebrand disease: Diagnosis and treatment, treatment of women, and genomic approach to diagnosis.

Laffan, Michael; Sathar, Jameela; Johnsen, Jill M.

Haemophilia ; 27 Suppl 3: 66-74, 2021 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-32578345

9.

How I treat type 2B von Willebrand disease.

Kruse-Jarres, Rebecca; Johnsen, Jill M.

Blood ; 131(12): 1292-1300, 2018 03 22.

Artigo em Inglês | MEDLINE | ID: mdl-29378695

10.

Biological mechanisms underlying inter-individual variation in factor VIII clearance in haemophilia.

Turecek, Peter L; Johnsen, Jill M; Pipe, Steven W; O'Donnell, James S.

Haemophilia ; 26(4): 575-583, 2020 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-32596930

11.

Genomic characterization of the RH locus detects complex and novel structural variation in multi-ethnic cohorts.

Wheeler, Marsha M; Lannert, Kerry W; Huston, Haley; Fletcher, Shelley N; Harris, Samantha; Teramura, Gayle; Maki, Helena J; Frazar, Chris; Underwood, Jason G; Shaffer, Tristan; Correa, Adolfo; Delaney, Meghan; Reiner, Alex P; Wilson, James G; Nickerson, Deborah A; Johnsen, Jill M.

Genet Med ; 21(2): 477-486, 2019 02.

Artigo em Inglês | MEDLINE | ID: mdl-29955105

12.

The national blueprint for pregnancy/birth longitudinal cohorts to study factor VIII immunogenicity: NHLBI State of the Science (SOS) Workshop on factor VIII inhibitors.

Johnsen, Jill M; Brown, Deborah L.

Haemophilia ; 25(4): 603-609, 2019 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-31329365

13.

The role of genomics in transfusion medicine.

Wheeler, Marsha M; Johnsen, Jill M.

Curr Opin Hematol ; 25(6): 509-515, 2018 11.

Artigo em Inglês | MEDLINE | ID: mdl-30138126

14.

Expression of the Blood-Group-Related Gene B4galnt2 Alters Susceptibility to Salmonella Infection.

Rausch, Philipp; Steck, Natalie; Suwandi, Abdulhadi; Seidel, Janice A; Künzel, Sven; Bhullar, Kirandeep; Basic, Marijana; Bleich, Andre; Johnsen, Jill M; Vallance, Bruce A; Baines, John F; Grassl, Guntram A.

PLoS Pathog ; 11(7): e1005008, 2015 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-26133982

15.

Factor XIIIa-dependent retention of red blood cells in clots is mediated by fibrin α-chain crosslinking.

Byrnes, James R; Duval, Cédric; Wang, Yiming; Hansen, Caroline E; Ahn, Byungwook; Mooberry, Micah J; Clark, Martha A; Johnsen, Jill M; Lord, Susan T; Lam, Wilbur A; Meijers, Joost C M; Ni, Heyu; Ariëns, Robert A S; Wolberg, Alisa S.

Blood ; 126(16): 1940-8, 2015 Oct 15.

Artigo em Inglês | MEDLINE | ID: mdl-26324704

16.

Use of convalescent plasma in hospitalized patients with COVID-19: case series.

Hegerova, Livia; Gooley, Ted A; Sweerus, Kelly A; Maree, Cynthia; Bailey, Neil; Bailey, Megumi; Dunleavy, Vanessa; Patel, Krish; Alcorn, Kirsten; Haley, Rebecca; Johnsen, Jill M; Konkle, Barbara A; Lahti, Annamarie C; Alexander, Morgan L; Goldman, Jason D; Lipke, Anne; Lim, Sun-Jung; Sullivan, Mark D; Pauk, John S; Pagel, John M.

Blood ; 136(6): 759-762, 2020 08 06.

Artigo em Inglês | MEDLINE | ID: mdl-32559767

17.

Analysis of exome sequencing data sets reveals structural variation in the coding region of ABO in individuals of African ancestry.

Fox, Keolu; Johnsen, Jill M; Coe, Bradley P; Frazar, Chris D; Reiner, Alexander P; Eichler, Evan E; Nickerson, Deborah A.

Transfusion ; 56(11): 2744-2749, 2016 11.

Artigo em Inglês | MEDLINE | ID: mdl-27580710

18.

A variational Bayes discrete mixture test for rare variant association.

Logsdon, Benjamin A; Dai, James Y; Auer, Paul L; Johnsen, Jill M; Ganesh, Santhi K; Smith, Nicholas L; Wilson, James G; Tracy, Russell P; Lange, Leslie A; Jiao, Shuo; Rich, Stephen S; Lettre, Guillaume; Carlson, Christopher S; Jackson, Rebecca D; O'Donnell, Christopher J; Wurfel, Mark M; Nickerson, Deborah A; Tang, Hua; Reiner, Alexander P; Kooperberg, Charles.

Genet Epidemiol ; 38(1): 21-30, 2014 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-24482836

19.

Imputation of exome sequence variants into population- based samples and blood-cell-trait-associated loci in African Americans: NHLBI GO Exome Sequencing Project.

Auer, Paul L; Johnsen, Jill M; Johnson, Andrew D; Logsdon, Benjamin A; Lange, Leslie A; Nalls, Michael A; Zhang, Guosheng; Franceschini, Nora; Fox, Keolu; Lange, Ethan M; Rich, Stephen S; O'Donnell, Christopher J; Jackson, Rebecca D; Wallace, Robert B; Chen, Zhao; Graubert, Timothy A; Wilson, James G; Tang, Hua; Lettre, Guillaume; Reiner, Alex P; Ganesh, Santhi K; Li, Yun.

Am J Hum Genet ; 91(5): 794-808, 2012 Nov 02.

Artigo em Inglês | MEDLINE | ID: mdl-23103231

20.

Massively parallel sequencing: the new frontier of hematologic genomics.

Johnsen, Jill M; Nickerson, Deborah A; Reiner, Alex P.

Blood ; 122(19): 3268-75, 2013 Nov 07.

Artigo em Inglês | MEDLINE | ID: mdl-24021669

BVS Doenças Infecciosas e Parasitárias

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