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Genetic counseling

Cell-free DNA screening for trisomies 21, 18, and 13: Clinical application and accuracy evaluation

Xiangmei Sun, Yuyi Ying, Caiping Chen, Xiaoliang Shi

published 08 Oct 2025

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Certain vs. uncertain actionable secondary findings in a cohort of 500 Lebanese participants: What to report to the patient?

Eileen Marie Hanna, Cybel Mehawej, Yazid Hoblos, Kelven Rahy, Andre Megarbane, Eliane Chouery

published 18 Jul 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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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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The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe

Anna Fernandez-Falgueras, Monica Coll, Anna Iglesias, Coloma Tiron, Oscar Campuzano, Ramon Brugada

published 01 May 2024

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The role of community engagement in promoting research participants’ understanding of pharmacogenomic research results: Perspectives of stakeholders involved in HIV/AIDS research and treatment

Sylvia Nabukenya, David Kyaddondo, Ian Guyton Munabi, Catriona Waitt, Adelline Twimukye, Erisa S. Mwaka

published 02 Apr 2024

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The effect of ascertainment on penetrance estimates for rare variants: Implications for establishing pathogenicity and for genetic counselling

Andrew D. Paterson, Sang-Cheol Seok, Veronica J. Vieland

published 21 Sep 2023

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Clients’ and genetic counselors’ perceptions of empathy in Japan: A pilot study of simulated consultations of genetic counseling

Chikako Tomozawa, Mikiko Kaneko, Motoko Sasaki, Hidehiko Miyake

published 19 Jul 2023

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Protocol to evaluate a pilot program to upskill clinicians in providing genetic testing for familial melanoma

Clare A. Primiero, Anna Finnane, Tatiane Yanes, Betsy Peach, H. Peter Soyer, Aideen M. McInerney-Leo

published 07 Dec 2022

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Feedback of individual genetic and genomics research results: A qualitative study involving grassroots communities in Uganda

Joseph Ochieng, Betty Kwagala, John Barugahare, Marlo Möller, Keymanthri Moodley

published 18 Nov 2022

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Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience

Grigoris Effraimidis, Åse Krogh Rasmussen, Morten Dunoe, Lis F. Hasholt, Flemming Wibrand, Soren S. Sorensen, Allan M. Lund, Lars Kober, Henning Bundgaard, Puriya D. W. Yazdanfard, Peter Oturai, Vibeke A. Larsen, Vitor Hugo Fraga de Abreu, Lotte Hahn Enevoldsen, Tatiana Kristensen, Kirsten Svenstrup, Margrethe Bastholm Bille, Farah Arif, Mette Mogensen, Mads Klokker, Vibeke Backer, Caroline Kistorp, Ulla Feldt-Rasmussen

published 16 Nov 2022

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Diagnostic value of fetal autopsy after early termination of pregnancy for fetal anomalies

Violaine Peyronnet, Olivia Anselem, Laurence Loeuillet, Nathalie Roux, Vassilis Tsatsaris

published 19 Oct 2022

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Genomic findings of hypertrophic and dilated cardiomyopathy characterized in a Thai clinical genetics service

Objoon Trachoo, Teerapat Yingchoncharoen, Tawai Ngernsritrakul, Nareenart Iemwimangsa, Bhakbhoom Panthan, Sommon Klumsathian, Sasima Srisukh, Anucha Mukdadilok, Sithakom Phusanti, Angkana Charoenyingwattana, Takol Chareonsirisuthigul, Wasun Chantratita, Tarinee Tangcharoen

published 27 Sep 2022

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