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1.

Uncertainty in Genomics Impacts Precision Medicine.

Pyeritz, Reed E.

Trends Genet ; 37(8): 711-716, 2021 08.

Artículo en Inglés | MEDLINE | ID: mdl-33218792

2.

Digital vascular lesions detected by transillumination.

Pyeritz, Reed E.

Am J Med Genet A ; 188(1): 99-103, 2022 01.

Artículo en Inglés | MEDLINE | ID: mdl-34529342

3.

Arachnodactyly represented in art.

Pyeritz, Reed E.

Am J Med Genet C Semin Med Genet ; 187(2): 163-167, 2021 06.

Artículo en Inglés | MEDLINE | ID: mdl-34021688

4.

Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes.

Strong, Alanna; Skraban, Cara; Meyers, Kevin; Amaral, Sandra; Furth, Susan; Drant, Stacey; Hsiao, Wendy; Galea, Lauren; Gold, Jessica; Gold, Nina B; Leonard, Jacqueline; Lopez, Sonya; Zackai, Elaine H; Pyeritz, Reed E.

Am J Med Genet A ; 185(12): 3762-3769, 2021 12.

Artículo en Inglés | MEDLINE | ID: mdl-34355836

5.

Marfan syndrome: improved clinical history results in expanded natural history.

Pyeritz, Reed E.

Genet Med ; 21(8): 1683-1690, 2019 08.

Artículo en Inglés | MEDLINE | ID: mdl-30573797

6.

Health-Related Quality of Life in Children and Young Adults with Marfan Syndrome.

Handisides, Jill C; Hollenbeck-Pringle, Danielle; Uzark, Karen; Trachtenberg, Felicia L; Pemberton, Victoria L; Atz, Teresa W; Bradley, Timothy J; Cappella, Elizabeth; De Nobele, Sylvia; Groh, Georgeann Keh-Teng; Hamstra, Michelle S; Korsin, Rosalind; Levine, Jami C; Lindauer, Bergen; Liou, Aimee; Neal, Meghan K Mac; Markham, Larry W; Morrison, Tonia; Mussatto, Kathleen A; Olson, Aaron K; Pierpont, Mary Ella M; Pyeritz, Reed E; Radojewski, Elizabeth A; Roman, Mary J; Xu, Mingfen; Lacro, Ronald V.

J Pediatr ; 204: 250-255.e1, 2019 01.

Artículo en Inglés | MEDLINE | ID: mdl-30270167

7.

Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia.

Wooderchak-Donahue, Whitney L; McDonald, Jamie; Farrell, Andrew; Akay, Gulsen; Velinder, Matt; Johnson, Peter; VanSant-Webb, Chad; Margraf, Rebecca; Briggs, Eric; Whitehead, Kevin J; Thomson, Jennifer; Lin, Angela E; Pyeritz, Reed E; Marth, Gabor; Bayrak-Toydemir, Pinar.

J Med Genet ; 55(12): 824-830, 2018 12.

Artículo en Inglés | MEDLINE | ID: mdl-30244195

8.

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

Amyere, Mustapha; Revencu, Nicole; Helaers, Raphaël; Pairet, Eleonore; Baselga, Eulalia; Cordisco, Maria; Chung, Wendy; Dubois, Josée; Lacour, Jean-Philippe; Martorell, Loreto; Mazereeuw-Hautier, Juliette; Pyeritz, Reed E; Amor, David J; Bisdorff, Annouk; Blei, Francine; Bombei, Hannah; Dompmartin, Anne; Brooks, David; Dupont, Juliette; González-Enseñat, Maria Antonia; Frieden, Ilona; Gérard, Marion; Kvarnung, Malin; Hanson-Kahn, Andrea Kwan; Hudgins, Louanne; Léauté-Labrèze, Christine; McCuaig, Catherine; Metry, Denise; Parent, Philippe; Paul, Carle; Petit, Florence; Phan, Alice; Quere, Isabelle; Salhi, Aicha; Turner, Anne; Vabres, Pierre; Vicente, Asuncion; Wargon, Orli; Watanabe, Shoji; Weibel, Lisa; Wilson, Ashley; Willing, Marcia; Mulliken, John B; Boon, Laurence M; Vikkula, Miikka.

Circulation ; 136(11): 1037-1048, 2017 Sep 12.

Artículo en Inglés | MEDLINE | ID: mdl-28687708

9.

Covered Stents in the Treatment of Pulmonary Arteriovenous Malformations.

Bai, Harrison X; Pyeritz, Reed E; Trerotola, Scott O.

J Vasc Interv Radiol ; 29(7): 981-985, 2018 07.

Artículo en Inglés | MEDLINE | ID: mdl-29935788

10.

Predictors of Rapid Aortic Root Dilation and Referral for Aortic Surgery in Marfan Syndrome.

Hoskoppal, Arvind; Menon, Shaji; Trachtenberg, Felicia; Burns, Kristin M; De Backer, Julie; Gelb, Bruce D; Gleason, Marie; James, Jeanne; Lai, Wyman W; Liou, Aimee; Mahony, Lynn; Olson, Aaron K; Pyeritz, Reed E; Sharkey, Angela M; Stylianou, Mario; Wechsler, Stephanie Burns; Young, Luciana; Levine, Jami C; Tierney, Elif Seda Selamet; Lacro, Ronald V; Bradley, Timothy J.

Pediatr Cardiol ; 39(7): 1453-1461, 2018 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-29948025

11.

Atenolol versus losartan in children and young adults with Marfan's syndrome.

Lacro, Ronald V; Dietz, Harry C; Sleeper, Lynn A; Yetman, Anji T; Bradley, Timothy J; Colan, Steven D; Pearson, Gail D; Selamet Tierney, E Seda; Levine, Jami C; Atz, Andrew M; Benson, D Woodrow; Braverman, Alan C; Chen, Shan; De Backer, Julie; Gelb, Bruce D; Grossfeld, Paul D; Klein, Gloria L; Lai, Wyman W; Liou, Aimee; Loeys, Bart L; Markham, Larry W; Olson, Aaron K; Paridon, Stephen M; Pemberton, Victoria L; Pierpont, Mary Ella; Pyeritz, Reed E; Radojewski, Elizabeth; Roman, Mary J; Sharkey, Angela M; Stylianou, Mario P; Wechsler, Stephanie Burns; Young, Luciana T; Mahony, Lynn.

N Engl J Med ; 371(22): 2061-71, 2014 Nov 27.

Artículo en Inglés | MEDLINE | ID: mdl-25405392

12.

Chronobiology of Acute Aortic Syndromes.

Siddiqi, Hasan K; Bossone, Eduardo; Pyeritz, Reed E; Eagle, Kim A.

Heart Fail Clin ; 13(4): 697-701, 2017 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-28865779

13.

Shock complicating type A acute aortic dissection: Clinical correlates, management, and outcomes.

Bossone, Eduardo; Pyeritz, Reed E; Braverman, Alan C; Peterson, Mark D; Ehrlich, Marek; O'Gara, Patrick; Suzuki, Toru; Trimarchi, Santi; Gilon, Dan; Greason, Kevin; Desai, Nimesh D; Montgomery, Daniel G; Isselbacher, Eric M; Nienaber, Christoph A; Eagle, Kim A.

Am Heart J ; 176: 93-9, 2016 06.

Artículo en Inglés | MEDLINE | ID: mdl-27264225

14.

Effect of Topical Intranasal Therapy on Epistaxis Frequency in Patients With Hereditary Hemorrhagic Telangiectasia: A Randomized Clinical Trial.

Whitehead, Kevin J; Sautter, Nathan B; McWilliams, Justin P; Chakinala, Murali M; Merlo, Christian A; Johnson, Maribeth H; James, Melissa; Everett, Eric M; Clancy, Marianne S; Faughnan, Marie E; Oh, S Paul; Olitsky, Scott E; Pyeritz, Reed E; Gossage, James R.

JAMA ; 316(9): 943-51, 2016 09 06.

Artículo en Inglés | MEDLINE | ID: mdl-27599329

15.

Stroke and outcomes in patients with acute type A aortic dissection.

Bossone, Eduardo; Corteville, David C; Harris, Kevin M; Suzuki, Toru; Fattori, Rossella; Hutchison, Stuart; Ehrlich, Marek P; Pyeritz, Reed E; Steg, Philippe Gabriel; Greason, Kevin; Evangelista, Arturo; Kline-Rogers, Eva; Montgomery, Daniel G; Isselbacher, Eric M; Nienaber, Christoph A; Eagle, Kim A.

Circulation ; 128(11 Suppl 1): S175-9, 2013 Sep 10.

Artículo en Inglés | MEDLINE | ID: mdl-24030403

16.

Persistence of Pulmonary Arteriovenous Malformation after Embolization: Another Reason to Quit Smoking.

Trerotola, Scott O; Pyeritz, Reed E.

Radiology ; 292(3): 771-772, 2019 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-31364958

17.

Response to Knoppers et al.

David, Karen L; Best, Robert G; Brenman, Leslie Manace; Bush, Lynn; Deignan, Joshua; Flannery, David; Hoffman, Jodi D; Holm, Ingrid; Miller, David T; O'Leary, James; Pyeritz, Reed E.

Genet Med ; 21(10): 2403, 2019 10.

Artículo en Inglés | MEDLINE | ID: mdl-30971833

18.

Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).

David, Karen L; Best, Robert G; Brenman, Leslie Manace; Bush, Lynn; Deignan, Joshua L; Flannery, David; Hoffman, Jodi D; Holm, Ingrid; Miller, David T; O'Leary, James; Pyeritz, Reed E.

Genet Med ; 21(4): 769-771, 2019 04.

Artículo en Inglés | MEDLINE | ID: mdl-30578420

19.

Heritable thoracic aortic disorders.

Pyeritz, Reed E.

Curr Opin Cardiol ; 29(1): 97-102, 2014 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-24284977

20.

A qualitative study of healthcare providers' perspectives on the implications of genome-wide testing in pediatric clinical practice.

Reiff, Marian; Mueller, Rebecca; Mulchandani, Surabhi; Spinner, Nancy B; Pyeritz, Reed E; Bernhardt, Barbara A.

J Genet Couns ; 23(4): 474-88, 2014 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-24037030

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Uncertainty in Genomics Impacts Precision Medicine.

Digital vascular lesions detected by transillumination.

Arachnodactyly represented in art.

Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes.

Marfan syndrome: improved clinical history results in expanded natural history.

Health-Related Quality of Life in Children and Young Adults with Marfan Syndrome.

Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia.

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

Covered Stents in the Treatment of Pulmonary Arteriovenous Malformations.

Predictors of Rapid Aortic Root Dilation and Referral for Aortic Surgery in Marfan Syndrome.

Atenolol versus losartan in children and young adults with Marfan's syndrome.

Chronobiology of Acute Aortic Syndromes.

Shock complicating type A acute aortic dissection: Clinical correlates, management, and outcomes.

Effect of Topical Intranasal Therapy on Epistaxis Frequency in Patients With Hereditary Hemorrhagic Telangiectasia: A Randomized Clinical Trial.

Stroke and outcomes in patients with acute type A aortic dissection.

Persistence of Pulmonary Arteriovenous Malformation after Embolization: Another Reason to Quit Smoking.

Response to Knoppers et al.

Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).

Heritable thoracic aortic disorders.

A qualitative study of healthcare providers' perspectives on the implications of genome-wide testing in pediatric clinical practice.