Precision Medicine and Genetics

Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis

Lorena Diaz-Ordoñez, Paola Andrea Duque-Cordoba, Daniel Andrés Nieva-Posso, Wilmar Saldarriaga, Juan David Gutierrez-Medina, Harry Pachajoa

JMIR Res Protoc 2024 (Nov 14); 13:e56649

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Differences in Messenger RNA Expression of Fibulin-1, Elastin, Matrix Metalloproteinase-1, Basic Fibroblast Growth Factor, and α-Smooth Muscle Actin Between the Ventral and Dorsal Tunica Dartos in Patients With Hypospadias and Chordee: Protocol for a Prospective Cohort Study

Joko Pitoyo, Alvarino, Eryati Darwin, Yanwirasti

JMIR Res Protoc 2024 (Oct 30); 13:e52282

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Internet-Based Abnormal Chromosomal Diagnosis During Pregnancy Using a Noninvasive Innovative Approach to Detecting Chromosomal Abnormalities in the Fetus: Scoping Review

Mega Obukohwo Sr Oyovwi, Ejiro Peggy Ohwin, Rume Arientare Rotu, Temitope Gideon Olowe

JMIR Bioinform Biotech 2024 (Oct 16); 5:e58439

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Quantification of Urinary Exosomal Prostate-Specific Antigen for the Diagnosis of Prostate Cancer Using Clinical Laboratory–Based Techniques: Protocol for a Case-Control Study

Guorong Li, Yannick Tholance, Nora Mallouk, Louis Waeckel, Pascale Flandrin, Bruno Bali, Lionel Badet, Pierre Cornillon

JMIR Res Protoc 2024 (Sep 11); 13:e63551

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Pharmacogenetics Clinical Decision Support Systems for Primary Care in England: Co-Design Study

Videha Sharma, John McDermott, Jessica Keen, Simon Foster, Pauline Whelan, William Newman

J Med Internet Res 2024 (Jul 23); 26:e49230

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Policy Guidance for Direct-to-Consumer Genetic Testing Services: Framework Development Study

Suzanne Maria Onstwedder, Marleen Elizabeth Jansen, Martina Cornelia Cornel, Tessel Rigter

J Med Internet Res 2024 (Jul 17); 26:e47389

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Research Trends and Evolution in Radiogenomics (2005-2023): Bibliometric Analysis

Meng Wang, Yun Peng, Ya Wang, Dehong Luo

Interact J Med Res 2024 (Jul 09); 13:e51347

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Erlotinib or Gefitinib for Treating Advanced Epidermal Growth Factor Receptor Mutation–Positive Lung Cancer in Aotearoa New Zealand: Protocol for a National Whole-of-Patient-Population Retrospective Cohort Study and Results of a Validation Substudy

Phyu Sin Aye, Joanne Barnes, George Laking, Laird Cameron, Malcolm Anderson, Brendan Luey, Stephen Delany, Dean Harris, Blair McLaren, Elliott Brenman, Jayden Wong, Ross Lawrenson, Michael Arendse, Sandar Tin Tin, Mark Elwood, Philip Hope, Mark James McKeage

JMIR Res Protoc 2024 (Jul 02); 13:e51381

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Exploring Dynamic Changes in HIV-1 Molecular Transmission Networks and Key Influencing Factors: Cross-Sectional Study

Yan He, Ying Tang, Qun Hua, Xin Li, You Ge, Yangyang Liu, Rong Tang, Ye Tian, Wei Li

JMIR Public Health Surveill 2024 (May 29); 10:e56593

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A Predictive Noninvasive Single-Nucleotide Variation–Based Biomarker Signature for Resectable Pancreatic Cancer: Protocol for a Prospective Validation Study

Nico Seeger, Stefan Gutknecht, Irin Zschokke, Isabella Fleischmann, Nadja Roth, Jürg Metzger, Markus Weber, Stefan Breitenstein, Lukasz Filip Grochola

JMIR Res Protoc 2024 (May 13); 13:e54042

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The Roles of NOTCH3 p.R544C and Thrombophilia Genes in Vietnamese Patients With Ischemic Stroke: Study Involving a Hierarchical Cluster Analysis

Huong Thi Thu Bui, Quỳnh Nguyễn Thị Phương, Ho Cam Tu, Sinh Nguyen Phuong, Thuy Thi Pham, Thu Vu, Huyen Nguyen Thi Thu, Lam Khanh Ho, Dung Nguyen Tien

JMIR Bioinform Biotech 2024 (May 07); 5:e56884

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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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