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Genetic testing

Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?

Maria Carmela Pera, Giorgia Coratti, Beatrice Berti, Adele D’Amico, Maria Sframeli, Emilio Albamonte, Roberto de Sanctis, Sonia Messina, Michela Catteruccia, Giorgia Brigati, Laura Antonaci, Simona Lucibello, Claudio Bruno, Valeria A. Sansone, Enrico Bertini, Danilo Tiziano, Marika Pane, Eugenio Mercuri

published 23 Mar 2020

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An Alaska Native community’s views on genetic research, testing, and return of results: Results from a public deliberation

Vanessa Y. Hiratsuka, Julie A. Beans, Jessica W. Blanchard, Justin Reedy, Erika Blacksher, Justin R. Lund, Paul G. Spicer

published 16 Mar 2020

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Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389

Daphne Yau, Thomas W. Laver, Antonia Dastamani, Senthil Senniappan, Jayne A. L. Houghton, Guftar Shaikh, Tim Cheetham, Talat Mushtaq, Ritika R. Kapoor, Tabitha Randell, Sian Ellard, Pratik Shah, Indraneel Banerjee, Sarah E. Flanagan

published 06 Feb 2020

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Do genetic ancestry tests increase racial essentialism? Findings from a randomized controlled trial

Wendy D. Roth, Şule Yaylacı, Kaitlyn Jaffe, Lindsey Richardson

published 29 Jan 2020

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An evaluation of genetic causes and environmental risks for bilateral optic atrophy

Andrew T. Chen, Lauren Brady, Dennis E. Bulman, Arun N. E. Sundaram, Amadeo R. Rodriguez, Edward Margolin, John S. Waye, Mark A. Tarnopolsky

published 25 Nov 2019

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Clinical utility of combined preimplantation genetic testing methods in couples at risk of passing on beta thalassemia/hemoglobin E disease: A retrospective review from a single center

Chonthicha Satirapod, Matchuporn Sukprasert, Bhakbhoom Panthan, Angkana Charoenyingwattana, Pawares Chitayanan, Wasun Chantratita, Wicharn Choktanasiri, Objoon Trachoo, Suradej Hongeng

published 21 Nov 2019

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Association between distress and knowledge among parents of autistic children

Afiqah Yusuf, Iskra Peltekova, Tal Savion-Lemieux, Jennifer Frei, Ruth Bruno, Ridha Joober, Jennifer Howe, Stephen W. Scherer, Mayada Elsabbagh

published 26 Sep 2019

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A proposal of a new evaluation framework towards implementation of genetic tests

Erica Pitini, Elvira D’Andrea, Corrado De Vito, Annalisa Rosso, Brigid Unim, Carolina Marzuillo, Antonio Federici, Emilio Di Maria, Paolo Villari

published 05 Aug 2019

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Defining genotype-phenotype relationships in patients with hypertrophic cardiomyopathy using cardiovascular magnetic resonance imaging

Robert J. H. Miller, Shahriar Heidary, Aleksandra Pavlovic, Audrey Schlachter, Rajesh Dash, Dominik Fleischmann, Euan A. Ashley, Matthew T. Wheeler, Phillip C. Yang

published 14 Jun 2019

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Personal genome testing on physicians improves attitudes on pharmacogenomic approaches

Kye Hwa Lee, Byung Joo Min, Ju Han Kim

published 28 Mar 2019

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Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world

Samuel Guan Wei Ow, Pei Yi Ong, Soo-Chin Lee

published 15 Mar 2019

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Genetic risk assessment of thrombophilia in patients with adverse obstetric outcomes

M. Fernández Arias, E. Mazarico, A. Gonzalez, M. Muniesa, C. Molinet, L. Almeida, M. D. Gómez Roig

published 27 Feb 2019

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Value of genetic testing in the prevention of coronary heart disease events

Yrjänä Hynninen, Miika Linna, Eeva Vilkkumaa

published 15 Jan 2019

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