Precision Medicine and Genetics

Developing the MyCancerGene Digital Health Portal to Improve Patients’ Understanding of Germline Cancer Genetic Test Results: Development, User, and Usability Testing Study

Phillip Trieu, Dominique Fetzer, Briana McLeod, Kathryn Schweickert, Lauren Gutstein, Brian Egleston, Susan Domchek, Linda Fleisher, Lynne Wagner, Kuang-Yi Wen, Cara Cacioppo, Jessica E Ebrahimzadeh, Dana Falcone, Claire Langer, Elisabeth Wood, Kelsey Karpink, Shelby Posen, Enida Selmani, Angela R Bradbury

JMIR Form Res 2025 (May 14); 9:e56282

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

Catriona Miller, Theo Portlock, Denis M Nyaga, Greg D Gamble, Justin M O'Sullivan

JMIR Med Inform 2025 (May 06); 13:e66556

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The rs243865 Polymorphism in Matrix Metalloproteinase-2 and its Association With Target Organ Damage in Patients With Resistant Hypertension: Cross-Sectional Study

An Tuan Huynh, Hoang Anh Vu, Ho Quoc Chuong, Tien Hoang Anh, An Viet Tran

JMIR Cardio 2025 (May 01); 9:e71016

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Assessing the Utilization of Electronic Consultations in Genetics: Seven-Year Retrospective Study

Sawona Biswas, Joyce So, Robert Wallerstein, Ralph Gonzales, Delphine Tout, Lisa DeAngelis, Aleksandar Rajkovic

JMIR Form Res 2025 (Apr 30); 9:e63028

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A WeChat-Based Decision Aid Intervention to Promote Informed Decision-Making for Family Members Regarding the Genetic Testing of Patients With Colorectal Cancer: Randomized Controlled Trial

Huanhuan Li, Yanjie Zhao, Wei Li, Wenxia Wang, Shengze Zhi, Yifan Wu, Qiqing Zhong, Rui Wang, Jiao Sun

J Med Internet Res 2025 (Apr 21); 27:e60681

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Assessing the Causal Association Between COVID-19 and Graves Disease: Mendelian Randomization Study

Hui Nian, Yu Bai, Hua Yu

JMIR Form Res 2025 (Apr 08); 9:e66003

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Investigating Associations Between Prognostic Factors in Gliomas: Unsupervised Multiple Correspondence Analysis

Maria Eduarda Goes Job, Heidge Fukumasu, Tathiane Maistro Malta, Pedro Luiz Porfirio Xavier

JMIR Bioinform Biotech 2025 (Mar 12); 6:e65645

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Cardiac Repair and Regeneration via Advanced Technology: Narrative Literature Review

Yugyung Lee, Sushil Shelke, Chi Lee

JMIR Biomed Eng 2025 (Mar 08); 10:e65366

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Examining BRCA Previvors’ Social Media Content Creation as a Form of Self and Community Care: Qualitative Interview Study

Mariah L Wellman, Camilla M Owens, Avery E Holton, Kimberly A Kaphingst

J Med Internet Res 2025 (Mar 03); 27:e67794

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Histopathological Comparison and Expression Analysis of COL1A1, COL3A1, and ELN in the Proximal and Distal Ventral Dartos of Patients With Hypospadias: Protocol for Prospective Case-Control Study

Putu Angga Risky Raharja, Ponco Birowo, Lisnawati Rachmadi, Heri Wibowo, Aria Kekalih, Gede Wirya Kusuma Duarsa, Tariq Abbas, Irfan Wahyudi

JMIR Res Protoc 2025 (Feb 18); 14:e70075

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Mortality Risk Prediction in Patients With Antimelanoma Differentiation–Associated, Gene 5 Antibody–Positive, Dermatomyositis–Associated Interstitial Lung Disease: Algorithm Development and Validation

Hui Li, Ruyi Zou, Hongxia Xin, Ping He, Bin Xi, Yaqiong Tian, Qi Zhao, Xin Yan, Xiaohua Qiu, Yujuan Gao, Yin Liu, Min Cao, Bi Chen, Qian Han, Juan Chen, Guochun Wang, Hourong Cai

J Med Internet Res 2025 (Feb 05); 27:e62836

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Developing and Assessing a Scalable Digital Health Tool for Pretest Genetic Education in Patients With Early-Onset Colorectal Cancer: Mixed Methods Design

Jessica N Rivera Rivera, Moran Snir, Emilie Simmons, Tara Schmidlen, Misha Sholeh, Melinda Leigh Maconi, Carley Geiss, Hayden Fulton, Laura Barton, Brian D Gonzalez, Jennifer Permuth, Susan Vadaparampil

JMIR Cancer 2025 (Jan 17); 11:e59464

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Evaluating and Enhancing Japanese Large Language Models for Genetic Counseling Support: Comparative Study of Domain Adaptation and the Development of an Expert-Evaluated Dataset

Takuya Fukushima, Masae Manabe, Shuntaro Yada, Shoko Wakamiya, Akiko Yoshida, Yusaku Urakawa, Akiko Maeda, Shigeyuki Kan, Masayo Takahashi, Eiji Aramaki

JMIR Med Inform 2025 (Jan 16); 13:e65047

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Exploring Molecular Genetics Research on Obesity in Malaysia: Protocol for a Scoping Review

Liyana Ahmad Zamri, Norhashimah Abu Seman, Nur Azlin Zainal Abidin, Siti Sarah Hamzah

JMIR Res Protoc 2024 (Dec 30); 13:e60838

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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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