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Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia
Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia
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Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia

Khera, Amit V., MD ; Won, Hong-Hee, PhD ; Peloso, Gina M., PhD ; Lawson, Kim S., MS ; Bartz, Traci M., MS ; Deng, Xuan, MSc ; van Leeuwen, Elisabeth M ; Natarajan, Pradeep, MD, MMSc ; Emdin, Connor A., HBSc ; Bick, Alexander G., PhD ; Morrison, Alanna C., PhD ; Brody, Jennifer A., BA ; Gupta, Namrata, PhD ; Nomura, Akihiro, MD ; Kessler, Thorsten, MD ; Duga, Stefano, PhD ; Bis, Joshua C., PhD ; van Duijn, Cornelia M., PhD ; Cupples, L. Adrienne, PhD ; Psaty, Bruce, MD, PhD ; Rader, Daniel J., MD ; Danesh, John, DPhil ; Schunkert, Heribert, MD ; McPherson, Ruth, MD ; Farrall, Martin, MD ; Watkins, Hugh, MD, PhD ; Lander, Eric, PhD ; Wilson, James G., MD ; Correa, Adolfo, MD, PhD ; Boerwinkle, Eric, PhD ; Merlini, Piera Angelica, MD ; Ardissino, Diego, MD ; Saleheen, Danish, MBBS, PhD ; Gabriel, Stacey, PhD ; Kathiresan, Sekar, MD

Journal of the American College of Cardiology, 2016-06, Vol.67 (22), p.2578-2589 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes
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Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes

Walsh, Roddy ; Buchan, Rachel ; Wilk, Alicja ; John, Shibu ; Felkin, Leanne E ; Thomson, Kate L ; Chiaw, Tang Hak ; Loong, Calvin Chin Woon ; Pua, Chee Jian ; Raphael, Claire ; Prasad, Sanjay ; Barton, Paul J ; Funke, Birgit ; Watkins, Hugh ; Ware, James S ; Cook, Stuart A

European heart journal, 2017-12, Vol.38 (46), p.3461-3468 [Periódico revisado por pares]

England: Oxford University Press

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3
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy
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Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy

Mazzarotto, Francesco ; Tayal, Upasana ; Buchan, Rachel J ; Midwinter, William ; Wilk, Alicja ; Whiffin, Nicola ; Govind, Risha ; Mazaika, Erica ; de Marvao, Antonio ; Dawes, Timothy J.W ; Felkin, Leanne E ; Ahmad, Mian ; Theotokis, Pantazis I ; Edwards, Elizabeth ; Ing, Alexander Y ; Thomson, Kate L ; Chan, Laura L.H ; Sim, David ; Baksi, A John ; Pantazis, Antonis ; Roberts, Angharad M ; Watkins, Hugh ; Funke, Birgit ; O’Regan, Declan P ; Olivotto, Iacopo ; Barton, Paul J.R ; Prasad, Sanjay K ; Cook, Stuart A ; Ware, James S ; Walsh, Roddy

Circulation (New York, N.Y.), 2020-02, Vol.141 (5), p.387-398 [Periódico revisado por pares]

United States: by the American College of Cardiology Foundation and the American Heart Association, Inc

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4
Hypertrophic Cardiomyopathy Registry: The rationale and design of an international, observational study of hypertrophic cardiomyopathy
Hypertrophic Cardiomyopathy Registry: The rationale and design of an international, observational study of hypertrophic cardiomyopathy
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Hypertrophic Cardiomyopathy Registry: The rationale and design of an international, observational study of hypertrophic cardiomyopathy

Kramer, Christopher M., MD ; Appelbaum, Evan, MD ; Desai, Milind Y., MD ; Desvigne-Nickens, Patrice, MD ; DiMarco, John P., MD, PhD ; Friedrich, Matthias G., MD ; Geller, Nancy, PhD ; Heckler, Sarahfaye, BA ; Ho, Carolyn Y., MD ; Jerosch-Herold, Michael, PhD ; Ivey, Elizabeth A., AS ; Keleti, Julianna, PhD ; Kim, Dong-Yun, PhD ; Kolm, Paul, PhD ; Kwong, Raymond Y., MD ; Maron, Martin S., MD ; Schulz-Menger, Jeanette, MD ; Piechnik, Stefan, PhD ; Watkins, Hugh, MD ; Weintraub, William S., MD ; Wu, Pan, PhD ; Neubauer, Stefan, MD

The American heart journal, 2015-08, Vol.170 (2), p.223-230 [Periódico revisado por pares]

United States: Elsevier Inc

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5
A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease
A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease
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A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease

Emdin, Connor A ; Haas, Mary E ; Khera, Amit V ; Aragam, Krishna ; Chaffin, Mark ; Klarin, Derek ; Hindy, George ; Jiang, Lan ; Wei, Wei-Qi ; Feng, Qiping ; Karjalainen, Juha ; Havulinna, Aki ; Kiiskinen, Tuomo ; Bick, Alexander ; Ardissino, Diego ; Wilson, James G ; Schunkert, Heribert ; McPherson, Ruth ; Watkins, Hugh ; Elosua, Roberto ; Bown, Matthew J ; Samani, Nilesh J ; Baber, Usman ; Erdmann, Jeanette ; Gupta, Namrata ; Danesh, John ; Saleheen, Danish ; Chang, Kyong-Mi ; Vujkovic, Marijana ; Voight, Ben ; Damrauer, Scott ; Lynch, Julie ; Kaplan, David ; Serper, Marina ; Tsao, Philip ; Mercader, Josep ; Hanis, Craig ; Daly, Mark ; Denny, Joshua ; Gabriel, Stacey ; Kathiresan, Sekar Murdock, Deborah G.

PLoS genetics, 2020-04, Vol.16 (4), p.e1008629 [Periódico revisado por pares]

United States: Public Library of Science

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6
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield
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Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

Thomson, Kate L. ; Ormondroyd, Elizabeth ; Harper, Andrew R. ; Dent, Tim ; McGuire, Karen ; Baksi, John ; Blair, Edward ; Brennan, Paul ; Buchan, Rachel ; Bueser, Teofila ; Campbell, Carolyn ; Carr-White, Gerald ; Cook, Stuart ; Daniels, Matthew ; Deevi, Sri V.V. ; Goodship, Judith ; Hayesmoore, Jesse B.G. ; Henderson, Alex ; Lamb, Teresa ; Prasad, Sanjay ; Rayner-Matthews, Paula ; Robert, Leema ; Sneddon, Linda ; Stark, Hannah ; Walsh, Roddy ; Ware, James S. ; Farrall, Martin ; Watkins, Hugh C.

Genetics in medicine, 2019-07, Vol.21 (7), p.1576-1584 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Metabolic Modulator Perhexiline Corrects Energy Deficiency and Improves Exercise Capacity in Symptomatic Hypertrophic Cardiomyopathy
Metabolic Modulator Perhexiline Corrects Energy Deficiency and Improves Exercise Capacity in Symptomatic Hypertrophic Cardiomyopathy
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Metabolic Modulator Perhexiline Corrects Energy Deficiency and Improves Exercise Capacity in Symptomatic Hypertrophic Cardiomyopathy

ABOZGUIA, Khalid ; ELLIOTT, Perry ; ASHRAFIAN, Houman ; WATKINS, Hugh ; FRENNEAUX, Michael ; MCKENNA, William ; THANH TRUNG PHAN ; NALLUR-SHIVU, Ganesh ; AHMED, Ibrar ; MAHER, Abdul R ; KAUR, Kulvinder ; TAYLOR, Jenny ; HENNING, Anke

Circulation (New York, N.Y.), 2010-10, Vol.122 (16), p.1562-1569 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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8
Progression of myocardial fibrosis in hypertrophic cardiomyopathy: mechanisms and clinical implications
Progression of myocardial fibrosis in hypertrophic cardiomyopathy: mechanisms and clinical implications
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Progression of myocardial fibrosis in hypertrophic cardiomyopathy: mechanisms and clinical implications

Raman, Betty ; Ariga, Rina ; Spartera, Marco ; Sivalokanathan, Sanjay ; Chan, Kenneth ; Dass, Sairia ; Petersen, Steffen E ; Daniels, Matthew J ; Francis, Jane ; Smillie, Robert ; Lewandowski, Adam J ; Ohuma, Eric O ; Rodgers, Christopher ; Kramer, Christopher M ; Mahmod, Masliza ; Watkins, Hugh ; Neubauer, Stefan

European heart journal cardiovascular imaging, 2019-02, Vol.20 (2), p.157-167 [Periódico revisado por pares]

England: Oxford University Press

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9
Myocardial Tissue Characterization Using Magnetic Resonance Noncontrast T1 Mapping in Hypertrophic and Dilated Cardiomyopathy
Myocardial Tissue Characterization Using Magnetic Resonance Noncontrast T1 Mapping in Hypertrophic and Dilated Cardiomyopathy
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Myocardial Tissue Characterization Using Magnetic Resonance Noncontrast T1 Mapping in Hypertrophic and Dilated Cardiomyopathy

DASS, Sairia ; SUTTIE, Joseph J ; WATKINS, Hugh ; NEUBAUER, Stefan ; PIECHNIK, Stefan K ; FERREIRA, Vanessa M ; HOLLOWAY, Cameron J ; BANERJEE, Rajarshi ; MAHMOD, Masliza ; COCHLIN, Lowri ; KARAMITSOS, Theodoros D ; ROBSON, Matthew D

Circulation. Cardiovascular imaging, 2012-11, Vol.5 (6), p.726-733 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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10
Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study
Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study
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Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study

Mackley, Michael P ; Blair, Edward ; Parker, Michael ; Taylor, Jenny C ; Watkins, Hugh ; Ormondroyd, Elizabeth

European journal of human genetics : EJHG, 2018-05, Vol.26 (5), p.652-659 [Periódico revisado por pares]

England: Nature Publishing Group

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