Precision Medicine and Genetics

Reducing Premature Coronary Artery Disease in Malaysia by Early Identification of Familial Hypercholesterolemia Using the Familial Hypercholesterolemia Case Ascertainment Tool (FAMCAT): Protocol for a Mixed Methods Evaluation Study

Anis Safura Ramli, Nadeem Qureshi, Hasidah Abdul-Hamid, Aisyah Kamal, Johanes Dedi Kanchau, Nur Syahirah Shahuri, Ralph Kwame Akyea, Luisa Silva, Laura Condon, Suraya Abdul-Razak, Alyaa Al-Khateeb, Yung-An Chua, Mohamed-Syarif Mohamed-Yassin, Noorhida Baharudin, Siti Fatimah Badlishah-Sham, Aznida Firzah Abdul Aziz, Noor Alicezah Mohd Kasim, Siti Hamimah Sheikh Abdul Kadir, Joe Kai, Jo Leonardi-Bee, Hapizah Nawawi

JMIR Res Protoc 2023 (Jun 02); 12:e47911

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An Accessible Communication System for Population-Based Genetic Testing: Development and Usability Study

Tara Coffin, Deborah Bowen, Elizabeth Swisher, Karen Lu, Nadine Rayes, Barbara Norquist, Stephanie Blank, Douglas Levine, Jamie Bakkum-Gamez, Gini Fleming, Olufunmilayo Olopade, Alan D’Andrea, Denise Nebgen, Christine Peterson, Mark Munsell, Kathleen Gavin, Rebecca Lechner, Jamie Crase, Deborah Polinsky, Iris Romero

JMIR Form Res 2022 (Oct 17); 6(10):e34055

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Implicit Incentives Among Reddit Users to Prioritize Attention Over Privacy and Reveal Their Faces When Discussing Direct-to-Consumer Genetic Test Results: Topic and Attention Analysis

Yongtai Liu, Zhijun Yin, Zhiyu Wan, Chao Yan, Weiyi Xia, Congning Ni, Ellen Wright Clayton, Yevgeniy Vorobeychik, Murat Kantarcioglu, Bradley A Malin

JMIR Infodemiology 2022 (Aug 03); 2(2):e35702

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Patient Recommendations for the Content and Design of Electronic Returns of Genetic Test Results: Interview Study Among Patients Who Accessed Their Genetic Test Results via the Internet

Diane M Korngiebel, Kathleen McGlone West

JMIRx Med 2022 (May 31); 3(2):e29706

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Cardiovascular Health Status And Genetic Risk In Survivors of Childhood Neuroblastoma and Nephroblastoma Treated With Doxorubicin: Protocol of the Pharmacogenetic Part of the LESS-Anthra Cross-Sectional Cohort Study

Oliver Zolk, Annika von dem Knesebeck, Norbert Graf, Thorsten Simon, Barbara Hero, Hashim Abdul-Khaliq, Mohamed Abd El Rahman, Claudia Spix, Benjamin Mayer, Susanne Elsner, Judith Gebauer, Thorsten Langer

JMIR Res Protoc 2022 (Feb 17); 11(2):e27898

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Web-Based Tool (FH Family Share) to Increase Uptake of Cascade Testing for Familial Hypercholesterolemia: Development and Evaluation

Hana Bangash, Ahmed Makkawy, Justin H Gundelach, Alexandra A Miller, Kimberly A Jacobson, Iftikhar J Kullo

JMIR Hum Factors 2022 (Feb 15); 9(1):e32568

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Investigating Genetic and Other Determinants of First-Onset Myocardial Infarction in Malaysia: Protocol for the Malaysian Acute Vascular Events Risk Study

Rajiv Chowdhury, Mohd Fairulnizal Md Noh, Sophia Rasheeqa Ismail, Kim Robin van Daalen, Puteri Sofia Nadira Megat Kamaruddin, Siti Hafizah Zulkiply, Nur Hayati Azizul, Norhayati Mustafa Khalid, Azizan Ali, Izyan Mohd Idris, Yong Shih Mei, Shazana Rifham Abdullah, Norfashihah Faridus, Nur Azirah Md Yusof, Nur Najwa Farahin M Yusoff, Rahman Jamal, Aizai Azan Abdul Rahim, Abdul Kahar Abdul Ghapar, Ammu Kutty Radhakrishnan, Alan Yean Yip Fong, Omar Ismail, Saravanan Krishinan, Chuey Yan Lee, Liew Houng Bang, Eashwary Mageswaren, Kauthaman Mahendran, Nor Hanim Mohd Amin, Gunavathy Muthusamy, Aaron Ong Hean Jin, Ahmad Wazi Ramli, Noel Thomas Ross, Anwar Irawan Ruhani, Mansor Yahya, Yusniza Yusoff, Siti Khairani Zainal Abidin, Laryssa Amado, Thomas Bolton, Sophie Weston, Jason Crawte, Niko Ovenden, Ank Michielsen, Md Mostafa Monower, Wan Rozita Wan Mahiyuddin, Angela Wood, Emanuele Di Angelantonio, Nur Suffia Sulaiman, John Danesh, Adam S Butterworth

JMIR Res Protoc 2022 (Feb 10); 11(2):e31885

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Patient Interactions With an Automated Conversational Agent Delivering Pretest Genetics Education: Descriptive Study

Daniel Chavez-Yenter, Kadyn E Kimball, Wendy Kohlmann, Rachelle Lorenz Chambers, Richard L Bradshaw, Whitney F Espinel, Michael Flynn, Amanda Gammon, Eric Goldberg, Kelsi J Hagerty, Rachel Hess, Cecilia Kessler, Rachel Monahan, Danielle Temares, Katie Tobik, Devin M Mann, Kensaku Kawamoto, Guilherme Del Fiol, Saundra S Buys, Ophira Ginsburg, Kimberly A Kaphingst

J Med Internet Res 2021 (Nov 18); 23(11):e29447

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Kinesiotherapy With Exergaming as a Potential Modulator of Epigenetic Marks and Clinical Functional Variables of Older Women: Protocol for a Mixed Methods Study

Patrícia Paula Bazzanello Henrique, Fabrízzio Martin Pelle Perez, Osvaldo Henrique Cemin Becker, Ericles Andrei Bellei, Daiana Biduski, Arthiese Korb, Daniela Pochmann, Caroline Dani, Viviane Rostirola Elsner, Ana Carolina Bertoletti De Marchi

JMIR Res Protoc 2021 (Oct 13); 10(10):e32729

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Cytochrome P450 1B1 Overexpression in Cervical Cancers: Cross-sectional Study

Fatemah O F O Alshammari, Yousef M Al-saraireh, Ahmed M M Youssef, Yahya M Al-Sarayra, Hamzeh Mohammad Alrawashdeh

Interact J Med Res 2021 (Oct 12); 10(4):e31150

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Electronic Video Consent to Power Precision Health Research: A Pilot Cohort Study

Arash Naeim, Sarah Dry, David Elashoff, Zhuoer Xie, Antonia Petruse, Clara Magyar, Liliana Johansen, Gabriela Werre, Clara Lajonchere, Neil Wenger

JMIR Form Res 2021 (Sep 08); 5(9):e29123

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Characterization of Global Research Trends and Prospects on Single-Cell Sequencing Technology: Bibliometric Analysis

Quan Wang, Ke-Lu Yang, Zhen Zhang, Zhu Wang, Chen Li, Lun Li, Jin-Hui Tian, Ying-Jiang Ye, Shan Wang, Ke-Wei Jiang

J Med Internet Res 2021 (Aug 10); 23(8):e25789

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Construction of Genealogical Knowledge Graphs From Obituaries: Multitask Neural Network Extraction System

Kai He, Lixia Yao, JiaWei Zhang, Yufei Li, Chen Li

J Med Internet Res 2021 (Aug 04); 23(8):e25670

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Search Behavior Regarding Cancer Susceptibility Genes Using a Clinical Decision Support Tool for Gene-Specific Penetrance: Content Analysis

Kanhua Yin, Jingan Zhou, Preeti Singh, Jin Wang, Danielle Braun, Kevin S Hughes

JMIR Cancer 2021 (Jul 13); 7(3):e28527

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Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers

Joséphine Lantoine, Anne Brysse, Vinciane Dideberg, Kathleen Claes, Sofie Symoens, Wim Coucke, Valérie Benoit, Sonia Rombout, Martine De Rycke, Sara Seneca, Lut Van Laer, Wim Wuyts, Anniek Corveleyn, Kris Van Den Bogaert, Catherine Rydlewski, Françoise Wilkin, Marie Ravoet, Elodie Fastré, Arnaud Capron, Nathalie Monique Vandevelde

JMIR Med Inform 2021 (Jul 12); 9(7):e27980

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Team Science in Precision Medicine: Study of Coleadership and Coauthorship Across Health Organizations

Ning An, John Mattison, Xinyu Chen, Gil Alterovitz

J Med Internet Res 2021 (Jun 14); 23(6):e17137

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Using a Tailored Digital Health Intervention for Family Communication and Cascade Genetic Testing in Swiss and Korean Families With Hereditary Breast and Ovarian Cancer: Protocol for the DIALOGUE Study

Sue Kim, Monica Aceti, Vasiliki Baroutsou, Nicole Bürki, Maria Caiata-Zufferey, Marco Cattaneo, Pierre O Chappuis, Florina M Ciorba, Rossella Graffeo-Galbiati, Viola Heinzelmann-Schwarz, Joon Jeong, MiSook M Jung, Sung-Won Kim, Jisun Kim, Myong Cheol Lim, Chang Ming, Christian Monnerat, Hyung Seok Park, Sang Hyung Park, Carla A Pedrazzani, Manuela Rabaglio, Jai Min Ryu, Ramon Saccilotto, Simon Wieser, Ursina Zürrer-Härdi, Maria C Katapodi

JMIR Res Protoc 2021 (Jun 11); 10(6):e26264

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Leveraging Genetic Reports and Electronic Health Records for the Prediction of Primary Cancers: Algorithm Development and Validation Study

Nansu Zong, Victoria Ngo, Daniel J Stone, Andrew Wen, Yiqing Zhao, Yue Yu, Sijia Liu, Ming Huang, Chen Wang, Guoqian Jiang

JMIR Med Inform 2021 (May 25); 9(5):e23586

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Leveraging Genomic Associations in Precision Digital Care for Weight Loss: Cohort Study

Ranjan Sinha, Dashyanng Kachru, Roshni Ray Ricchetti, Simitha Singh-Rambiritch, Karthik Marimuthu Muthukumar, Vidhya Singaravel, Carmel Irudayanathan, Chandana Reddy-Sinha, Imran Junaid, Garima Sharma, Patricia Alice Francis-Lyon

J Med Internet Res 2021 (May 19); 23(5):e25401

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Diagnostic Classification and Prognostic Prediction Using Common Genetic Variants in Autism Spectrum Disorder: Genotype-Based Deep Learning

Haishuai Wang, Paul Avillach

JMIR Med Inform 2021 (Apr 07); 9(4):e24754

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