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Genetic testing

The socioeconomic impact of inherited retinal dystrophies (IRDs) in Belgium: A cost-of-illness study

Ine Vandersmissen, Janice Geers, Tom Denee, Salla Oinasmaa, Dagmar Hoeben, Xinyi Zhang, Burcak Aydin, Simone Cheung, Lorenzo Billiet, Inge Joniau, Avril Daly, Steven Simoens, Bart P. Leroy

published 27 Jan 2026

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To test or not to test? Study protocol for a best-worst scaling to understand decision-making and preferences for genetic testing in moderate-risk individuals

Carina Oedingen, Nicolle Hua, Karen V. MacDonald, Julien Marcadier, Renee Perrier, Lindsay Tuer, Brenda McInnes, Francois Bernier, Deborah A. Marshall

published 29 Dec 2025

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Diagnostic yield of exome sequencing in nonobstructive azoospermia (NOA): A systematic review and meta-analysis

Fan Zhou, Yaqian Li, Jiani Zhang, Xiaodong Wang

published 16 Dec 2025

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Utilization of genomic services among physicians in Kenya

Hillary Sigilai, Elijah Ogola, Syokau Ilovi

published 10 Dec 2025

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Mapping the state-of-the-art of the barriers for personalized preventive approaches worldwide: A scoping review of reviews

Nicolò Scarsi, Abdelrahman Taha, Sara Farina, Tommaso Osti, Luigi Russo, Alessandra Maio, Roberta Pastorino, Stefania Boccia

published 24 Oct 2025

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Optimizing gene prioritization for clinical diagnosis of metabolic genetic disorders

Beatriz Helena Dantas Rodrigues de Albuquerque, Daniel Carlos Ferreira Lanza

published 29 Aug 2025

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Characterization of congenital hyperinsulinism in Argentina: Clinical features, genetic findings, and treatment outcomes

Gabriela Pacheco, Maria G. Bastida, Juan Cáceres, Guillermo Alonso, Mariana Aziz, Martha Suarez, Adriana Flores, Victoria Femenia, María V. Forclaz, Jayne A.L. Houghton, Jasmin J. Bennett, Sabrina Martin, Sarah E. Flanagan, Ana Tangari-Saredo

published 19 Aug 2025

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Hematological analysis of alpha-thalassemia: A single-center, retrospective clinical study

Lin Zheng, Nuolan Yin, Meiying Wang, Hailong Huang, Na Lin, Shuyu Zhang, Linjuan Su, Liangpu Xu

published 04 Aug 2025

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Genetic profiling of inherited colorectal cancer syndromes in Tunisian patients

Rania Abdelmaksoud-Dammak, Nihel Ammous-Boukhris, Amena Saadallah-Kallel, Dorra Ben Ayed-Guerfali, Souhir Guidara, Imen Miladi-Abdennadher, Ikhlas Ben Ayed, Hassen Kamoun, Slim Charfi, Tahya Sellami-Boudawara, Imen Zribi, Foued Frikha, Salah Boujelbene, Raja Mokdad-Gargouri

published 24 Jun 2025

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The impact of VUS reclassification on reproductive decision making

Alexandra Peyser, Kenan Onel, Avner Hershlag

published 27 May 2025

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Knowledge, attitude, and practice toward genetic testing in breast cancer patients in China

Xin Ye, Ting Xu, Jun Cao, Gang Li, Ming Zhuang, Guangfu Hu, Hongliang Chen, Min Wang, Jie Wang

published 08 May 2025

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Fetal genetic factors in pregnancy loss: Insights from a meta-analysis and effectiveness of whole exome sequencing

Andrea Hadjipanteli, Athina Theodosiou, Ioannis Papaevripidou, Angelos Alexandrou, Nicole Salameh, Paola Evangelidou, Marios Tomazou, Andreas Mavrides, Sozos Fasouliotis, George Anastasiou, Andreas Stavroulis, Niki Agathokleous, Maria Agathokleous, Stelios Tsangarides, Ioannis Kallikas, Kyriakos Kakoullis, Sofia Frakala, Christina Oxinou, Andreas Marnerides, Emilia Athanasiou, Sofia Ourani, Violetta C. Anastasiadou, George Tanteles, Ludmila Kousoulidou, Carolina Sismani

published 25 Feb 2025

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The importance of genetic counselling and testing in inherited eye diseases: A population-based retrospective study

Michal Kaminer Abargel, Michal Macarov, Karen Hendler, Claudia Yahalom

published 13 Feb 2025

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