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Genetic testing

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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Genetic background of high myopia in children

Urh Šenk, Bernard Čižman, Karin Writzl, Manca Tekavčič Pompe

published 04 Nov 2024

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Decisional conflict and knowledge in women with BRCA1/2 pathogenic variants: An exploratory age group analysis of a randomised controlled decision aid trial

Sibylle Kautz-Freimuth, Zoë Lautz, Arim Shukri, Marcus Redaèlli, Kerstin Rhiem, Rita Schmutzler, Stephanie Stock

published 24 Oct 2024

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Germline multigene panel testing in acute and chronic pancreatitis

Mitchell L. Ramsey, Brandie Heald, Yevgeniya Gokun, Josie Baker, J. Royce Groce, Samuel Han, Phil A. Hart, Somashekar G. Krishna, Luis F. Lara, Peter J. Lee, Georgios I. Papachristou, Rachel Pearlman, Sarah Poll, Maegan E. Roberts, Peter P. Stanich

published 22 Aug 2024

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Roll-out of an educational workshop to improve knowledge and self-confidence of healthcare professionals engaged in mainstreaming of breast cancer genetics

Valerie Jenkins, Ruth Habibi, Virginia Hall, Pauline Leonard, Anneliese Lawn, Jay Naik, Rachel Papps-Williams, Lesley Fallowfield

published 19 Jul 2024

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Copy number variant detection using next-generation sequencing in EYS-associated retinitis pigmentosa

Masakazu Hiraoka, Yusaku Urakawa, Kanako Kawai, Akiko Yoshida, Junichi Hosakawa, Masaki Takazawa, Akira Inaba, Satoshi Yokota, Yasuhiko Hirami, Masayo Takahashi, Osamu Ohara, Yasuo Kurimoto, Akiko Maeda

published 24 Jun 2024

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Genetic changes and testing associated with childhood glaucoma: A systematic review

Anika Kumar, Ying Han, Julius T. Oatts

published 22 Feb 2024

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Provider-reported experiences, barriers, and perspectives on genetic testing as part of autism diagnosis

Amy Wang, India D. Little, Dennis Carter, Stephanie Pham, Madeline Piper, Gabriela M. Ramírez-Renta, Sydney Telaak, Chris Gunter

published 05 Feb 2024

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Indications, types, and diagnostic implications of prenatal genetic testing in Sub-Saharan Africa: A descriptive study

Abraham Fessehaye Sium, Tariku Shimels, Abdulfetah Abdulkadir Abdosh, Tesfaye Diress, Tigist Tsegaye, Tizibt Yifrashewa, Zewdu Terefework, Wondimu Gudu

published 16 Nov 2023

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