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1.

PhenoTagger: A Hybrid Method for Phenotype Concept Recognition using Human Phenotype Ontology.

Luo, Ling; Yan, Shankai; Lai, Po-Ting; Veltri, Daniel; Oler, Andrew; Xirasagar, Sandhya; Ghosh, Rajarshi; Similuk, Morgan; Robinson, Peter N; Lu, Zhiyong.

Bioinformatics; 2021 Jan 20.

Artículo en Inglés | MEDLINE | ID: mdl-33471061

2.

Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain-of-function.

Aluri, Jahnavi; Bach, Alicia; Kaviany, Saara; Chiquetto Paracatu, Luana; Kitcharoensakkul, Maleewan; Walkiewicz, Magdalena A; Putnam, Christopher D; Shinawi, Marwan; Saucier, Nermina; Rizzi, Elise M; Harmon, Michael T; Keppel, Molly P; Ritter, Michelle; Similuk, Morgan N; Kulm, Elaine; Joyce, Michael; de Jesus, Adriana Almeida; Goldbach-Mansky, Raphaela; Lee, Yi-Shan; Cella, Marina; Kendall, Peggy L; Dinauer, Mary C; Bednarski, Jeffrey J; Bemrich-Stolz, Christina; Canna, Scott; Abraham, Shirley; Demczko, Matthew M; Powell, Jonathan; Jones, Stacie M; Scurlock, Amy M; De Ravin, Suk See; Bleesing, Jack; Connelly, James A; Rao, V Koneti; Schuettpelz, Laura; Cooper, Megan Anne.

Blood; 2020 Dec 23.

Artículo en Inglés | MEDLINE | ID: mdl-33512449

3.

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species.

Shefchek, Kent A; Harris, Nomi L; Gargano, Michael; Matentzoglu, Nicolas; Unni, Deepak; Brush, Matthew; Keith, Daniel; Conlin, Tom; Vasilevsky, Nicole; Zhang, Xingmin Aaron; Balhoff, James P; Babb, Larry; Bello, Susan M; Blau, Hannah; Bradford, Yvonne; Carbon, Seth; Carmody, Leigh; Chan, Lauren E; Cipriani, Valentina; Cuzick, Alayne; Della Rocca, Maria; Dunn, Nathan; Essaid, Shahim; Fey, Petra; Grove, Chris; Gourdine, Jean-Phillipe; Hamosh, Ada; Harris, Midori; Helbig, Ingo; Hoatlin, Maureen; Joachimiak, Marcin; Jupp, Simon; Lett, Kenneth B; Lewis, Suzanna E; McNamara, Craig; Pendlington, Zoë M; Pilgrim, Clare; Putman, Tim; Ravanmehr, Vida; Reese, Justin; Riggs, Erin; Robb, Sofia; Roncaglia, Paola; Seager, James; Segerdell, Erik; Similuk, Morgan; Storm, Andrea L; Thaxon, Courtney; Thessen, Anne; Jacobsen, Julius O B.

Nucleic Acids Res; 48(D1): D704-D715, 2020 01 08.

Artículo en Inglés | MEDLINE | ID: mdl-31701156

4.

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Köhler, Sebastian; Carmody, Leigh; Vasilevsky, Nicole; Jacobsen, Julius O B; Danis, Daniel; Gourdine, Jean-Philippe; Gargano, Michael; Harris, Nomi L; Matentzoglu, Nicolas; McMurry, Julie A; Osumi-Sutherland, David; Cipriani, Valentina; Balhoff, James P; Conlin, Tom; Blau, Hannah; Baynam, Gareth; Palmer, Richard; Gratian, Dylan; Dawkins, Hugh; Segal, Michael; Jansen, Anna C; Muaz, Ahmed; Chang, Willie H; Bergerson, Jenna; Laulederkind, Stanley J F; Yüksel, Zafer; Beltran, Sergi; Freeman, Alexandra F; Sergouniotis, Panagiotis I; Durkin, Daniel; Storm, Andrea L; Hanauer, Marc; Brudno, Michael; Bello, Susan M; Sincan, Murat; Rageth, Kayli; Wheeler, Matthew T; Oegema, Renske; Lourghi, Halima; Della Rocca, Maria G; Thompson, Rachel; Castellanos, Francisco; Priest, James; Cunningham-Rundles, Charlotte; Hegde, Ayushi; Lovering, Ruth C; Hajek, Catherine; Olry, Annie; Notarangelo, Luigi; Similuk, Morgan.

Nucleic Acids Res; 47(D1): D1018-D1027, 2019 01 08.

Artículo en Inglés | MEDLINE | ID: mdl-30476213

5.

Exome sequencing study in a clinical research setting finds general acceptance of study returning secondary genomic findings with little decisional conflict.

Similuk, Morgan N; Yan, Jia; Setzer, Michael R; Jamal, Leila; Littel, Patricia; Lenardo, Michael; Su, Helen C.

J Genet Couns; 2020 Dec 15.

Artículo en Inglés | MEDLINE | ID: mdl-33320394

6.

Life with a Primary Immune Deficiency: a Systematic Synthesis of the Literature and Proposed Research Agenda.

Similuk, Morgan N; Wang, Angela; Lenardo, Michael J; Erby, Lori H.

J Clin Immunol; 36(2): 123-33, 2016 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-26873708

7.

Predispositions to Lymphoma: A Practical Review for Genetic Counselors.

Similuk, Morgan; Rao, V Koneti; Churpek, Jane; Lenardo, Michael.

J Genet Couns; 25(6): 1157-1170, 2016 12.

Artículo en Inglés | MEDLINE | ID: mdl-27265405

8.

Patient Perceptions of Telephone vs. In-Person BRCA1/BRCA2 Genetic Counseling.

Peshkin, Beth N; Kelly, Scott; Nusbaum, Rachel H; Similuk, Morgan; DeMarco, Tiffani A; Hooker, Gillian W; Valdimarsdottir, Heiddis B; Forman, Andrea D; Joines, Jessica Rispoli; Davis, Claire; McCormick, Shelley R; McKinnon, Wendy; Graves, Kristi D; Isaacs, Claudine; Garber, Judy; Wood, Marie; Jandorf, Lina; Schwartz, Marc D.

J Genet Couns; 25(3): 472-82, 2016 06.

Artículo en Inglés | MEDLINE | ID: mdl-26455498

9.

Aspergillosis, eosinophilic esophagitis, and allergic rhinitis in signal transducer and activator of transcription 3 haploinsufficiency.

Natarajan, Mukil; Hsu, Amy P; Weinreich, Michael A; Zhang, Yuan; Niemela, Julie E; Butman, John A; Pittaluga, Stefania; Sugui, Janyce; Collar, Amanda L; Lim, Jean K; Zangeneh, Tirdad; Carr, Tara; Oler, Andrew J; Similuk, Morgan; Rosen, Lindsey B; Desai, Jigar V; Freeman, Alexandra F; Holland, Steven M; Kwon-Chung, Kyung J; Milner, Joshua D; Lionakis, Michail S.

J Allergy Clin Immunol; 142(3): 993-997.e3, 2018 09.

Artículo en Inglés | MEDLINE | ID: mdl-29803798

10.

Warts and DADA2: a Mere Coincidence?

Arts, Katrijn; Bergerson, Jenna R E; Ombrello, Amanda K; Similuk, Morgan; Oler, Andrew J; Agharahimi, Anahita; Mace, Emily M; Hershfield, Mike; Wouters, Carine; De Somer, Lien; Morren, Marie-Anne; Diego, Rebeca Perez-de; Moens, Leen; Freeman, Alexandra F; Meyts, Isabelle.

J Clin Immunol; 38(8): 836-843, 2018 11.

Artículo en Inglés | MEDLINE | ID: mdl-30386947

11.

HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease.

Cook, Sarah A; Comrie, William A; Poli, M Cecilia; Similuk, Morgan; Oler, Andrew J; Faruqi, Aiman J; Kuhns, Douglas B; Yang, Sheng; Vargas-Hernández, Alexander; Carisey, Alexandre F; Fournier, Benjamin; Anderson, D Eric; Price, Susan; Smelkinson, Margery; Abou Chahla, Wadih; Forbes, Lisa R; Mace, Emily M; Cao, Tram N; Coban-Akdemir, Zeynep H; Jhangiani, Shalini N; Muzny, Donna M; Gibbs, Richard A; Lupski, James R; Orange, Jordan S; Cuvelier, Geoffrey D E; Al Hassani, Moza; Al Kaabi, Nawal; Al Yafei, Zain; Jyonouchi, Soma; Raje, Nikita; Caldwell, Jason W; Huang, Yanping; Burkhardt, Janis K; Latour, Sylvain; Chen, Baoyu; ElGhazali, Gehad; Rao, V Koneti; Chinn, Ivan K; Lenardo, Michael J.

Science; 369(6500): 202-207, 2020 07 10.

Artículo en Inglés | MEDLINE | ID: mdl-32647003

12.

Motivations and Decision Making Processes of Men With X-linked Retinoschisis Considering Participation in an Ocular Gene Therapy Trial.

Turriff, Amy; Blain, Delphine; Similuk, Morgan; Biesecker, Barbara; Wiley, Henry; Cukras, Catherine; Sieving, Paul A.

Am J Ophthalmol; 204: 90-96, 2019 08.

Artículo en Inglés | MEDLINE | ID: mdl-30885710

13.

Paradoxical CD4 Lymphopenia in Autoimmune Lymphoproliferative Syndrome (ALPS).

Lisco, Andrea; Wong, Chun-Shu; Price, Susan; Ye, Peiying; Niemela, Julie; Anderson, Megan; Richards, Elizabeth; Manion, Maura; Mystakelis, Harry; Similuk, Morgan; Lo, Bernice; Stoddard, Jennifer; Rosenzweig, Sergio; Vanpouille, Christophe; Rupert, Adam; Maric, Irina; Perez-Diez, Ainhoa; Parenti, David; Burbelo, Peter D; Rao, V Koneti; Sereti, Irini.

Front Immunol; 10: 1193, 2019.

Artículo en Inglés | MEDLINE | ID: mdl-31191551

14.

Corrigendum: Paradoxical CD4 Lymphopenia in Autoimmune Lymphoproliferative Syndrome (ALPS).

Lisco, Andrea; Wong, Chun-Shu; Price, Susan; Ye, Peiying; Niemela, Julie; Anderson, Megan; Richards, Elizabeth; Manion, Maura; Mystakelis, Harry; Similuk, Morgan; Lo, Bernice; Stoddard, Jennifer; Rosenzweig, Sergio; Vanpouille, Christophe; Rupert, Adam; Maric, Irina; Perez-Diez, Ainhoa; Parenti, David; Burbelo, Peter D; Rao, V Koneti; Sereti, Irini.

Front Immunol; 10: 1552, 2019.

Artículo en Inglés | MEDLINE | ID: mdl-31333676

15.

Loss-of-function CARD8 mutation causes NLRP3 inflammasome activation and Crohn's disease.

Mao, Liming; Kitani, Atsushi; Similuk, Morgan; Oler, Andrew J; Albenberg, Lindsey; Kelsen, Judith; Aktay, Atiye; Quezado, Martha; Yao, Michael; Montgomery-Recht, Kim; Fuss, Ivan J; Strober, Warren.

J Clin Invest; 128(5): 1793-1806, 2018 05 01.

Artículo en Inglés | MEDLINE | ID: mdl-29408806

16.

Randomized Noninferiority Trial of Telephone vs In-Person Genetic Counseling for Hereditary Breast and Ovarian Cancer: A 12-Month Follow-Up.

Interrante, Mary K; Segal, Hannah; Peshkin, Beth N; Valdimarsdottir, Heiddis B; Nusbaum, Rachel; Similuk, Morgan; DeMarco, Tiffani; Hooker, Gillian; Graves, Kristi; Isaacs, Claudine; Wood, Marie; McKinnon, Wendy; Garber, Judy; McCormick, Shelley; Heinzmann, Jessica; Kinney, Anita Y; Schwartz, Marc D.

JNCI Cancer Spectr; 1(1): pkx002, 2017 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-31304457

17.

Patient and genetic counselor perceptions of in-person versus telephone genetic counseling for hereditary breast/ovarian cancer.

Jacobs, Aryana S; Schwartz, Marc D; Valdimarsdottir, Heiddis; Nusbaum, Rachel H; Hooker, Gillian W; DeMarco, Tiffani A; Heinzmann, Jessica E; McKinnon, Wendy; McCormick, Shelley R; Davis, Claire; Forman, Andrea D; Lebensohn, Alexandra Perez; Dalton, Emily; Tully, Diana Moglia; Graves, Kristi D; Similuk, Morgan; Kelly, Scott; Peshkin, Beth N.

Fam Cancer; 15(4): 529-39, 2016 10.

Artículo en Inglés | MEDLINE | ID: mdl-26969308

18.

Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

Ferre, Elise M N; Rose, Stacey R; Rosenzweig, Sergio D; Burbelo, Peter D; Romito, Kimberly R; Niemela, Julie E; Rosen, Lindsey B; Break, Timothy J; Gu, Wenjuan; Hunsberger, Sally; Browne, Sarah K; Hsu, Amy P; Rampertaap, Shakuntala; Swamydas, Muthulekha; Collar, Amanda L; Kong, Heidi H; Lee, Chyi-Chia Richard; Chascsa, David; Simcox, Thomas; Pham, Angela; Bondici, Anamaria; Natarajan, Mukil; Monsale, Joseph; Kleiner, David E; Quezado, Martha; Alevizos, Ilias; Moutsopoulos, Niki M; Yockey, Lynne; Frein, Cathleen; Soldatos, Ariane; Calvo, Katherine R; Adjemian, Jennifer; Similuk, Morgan N; Lang, David M; Stone, Kelly D; Uzel, Gulbu; Kopp, Jeffrey B; Bishop, Rachel J; Holland, Steven M; Olivier, Kenneth N; Fleisher, Thomas A; Heller, Theo; Winer, Karen K; Lionakis, Michail S.

JCI Insight; 1(13)2016 Aug 18.

Artículo en Inglés | MEDLINE | ID: mdl-27588307

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