Refining the interpretation of variants of uncertain significance in hereditary cancer screening through integrated RNA sequencing by Youbao Sha, J. Bryce Ortiz, Sara L. Bristow, Kate Loranger, Linyan Meng, Xiaonan Zhao, Fan Xia, Sheetal Parmar, Adam C. ElNaggar, Wenbo Xu

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Clinical characteristics of hereditary spherocytosis with red blood cell membrane protein gene variants by Jingying Cheng, Liqiang Zhang, Jiafeng Yao, Shasha Zhao, Jin Jiang

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Factors influencing role preferences in decision-making of healthy women with BRCA1/2 pathogenic variants: subanalysis from a randomised controlled decision coaching trial by Sibylle Kautz-Freimuth, Arim Shukri, Claudia Stracke, Anna Isselhard, Birte Berger-Höger, Anke Steckelberg, Frank Vitinius, Nicola Dikow, Marion Kiechle, Cornelia Meisel, Achim Wöckel, Marion Tina von Mackelenbergh, Rita Schmutzler, Kerstin Rhiem, Stephanie Stock

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The breast cancer genetic testing experience: probing the potential utility of an online decision aid in risk perception and decision making by Anna Vaynrub, Brian Salazar, Yilin Eileen Feng, Harry West, Alissa Michel, Subiksha Umakanth, Katherine D. Crew, Rita Kukafka

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Case Report: Craniofacial deafness hand syndrome with unusual cardiovascular symptoms and lack of holistic care by Samantha Saenz Hinojosa, Carlos Reyes-Silva, Kazuyoshi Hosomichi, Vanessa I. Romero

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Heterozygous mutation in BRCA2 induces accelerated age-dependent decline in sperm quality with male subfertility in rats by Yashiro Motooka, Hideaki Tanaka, Yuki Maeda, Misako Katabuchi, Tomoji Mashimo, Shinya Toyokuni

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Developmental and Epileptic Encephalopathy: Pathogenesis of Intellectual Disability Beyond Channelopathies by Alexandra D. Medyanik, Polina E. Anisimova, Angelina O. Kustova, Victor S. Tarabykin, Elena V. Kondakova

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Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema by Lingxi Jiang, Chao Dai, Suyang Duan, Tingting Wang, Chunbao Xie, Luhan Zhang, Zimeng Ye, Xiumei Ma, Yi Shi

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