Novel NOTCH3 mutation c.1564 T > A (p.Cys522Ser) presenting with early-onset Parkinsonism and white matter lesions by Nicola Rifino, Silvia Baratta, Esteban Zacarias, Isabella Canavero, Benedetta Storti, Mario Stanziano, Emanuela Maderna, Gianluca Marucci, Franco Taroni, Anna Bersano

Subjects: Get full text

Pitfalls in clinical genetics by Hui-Lin Chin, Denise Li Meng Goh

Subjects: Get full text

Deployment of next-generation sequencing approach for variant detection in myocardial infarction: A concise investigation by Desaraju Suresh Bhargav, Nadeem Siddiqui, Bhadra Murthy V, Vijaya Tartte, Vanaja V

Subjects: Get full text

Case report: Novel ACTN4 variant of uncertain significance in a pediatric case of steroid-resistant nephrotic syndrome requesting kidney transplantation by Ignacio Alarcón, Carolina Peralta, Francisco Cammarata-Scalisi, Maykol Araya Castillo, Francisco Cano, Francisco Cano, Angélica Rojo, María Luisa Ceballos, María Luisa Ceballos, Paola Krall, Paola Krall

Subjects: Get full text

Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance by Irena Josephina Johanna Muffels, Hans R. Waterham, Giuseppina D’Alessandro, Guido Zagnoli-Vieira, Michael Sacher, Dirk J. Lefeber, Celine Van der Vinne, Chaim M. Roifman, Koen L. I. Gassen, Holger Rehmann, Desiree Y. Van Haaften-Visser, Edward S. S. Nieuwenhuis, Stephen P. Jackson, Sabine A. Fuchs, Femke Wijk, Peter van Hasselt

Subjects: Get full text

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

Subjects: Get full text

Interpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3 by Haixia Zheng, Chongsheng Cheng, Miao He, Wangji Zhou, Yixuan Li, Jinrong Dai, Ting Zhang, Kai‐Feng Xu, Xue Zhang, Xinlun Tian, Yaping Liu

Subjects: Get full text