Gyrate atrophy of the choroid and retina with vitreous hemorrhage complication in a Vietnamese child by Nguyen Minh-Phu, Nguyen Hanh Giang, Nguyen Ngan-Ha, Nguyen Huu Hong Thu, Nguyen Hai Ha

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Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing by Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic‐Berkmen, Ai Huey Tan, Shen‐Yang Lim, Ebba Lohmann, Kaja M. Schröder, Lea Ipsen, Lena A. Nothacker, Linn Welzel, Alexandra S. Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E. Zeuner, Friederike Schumann, Andrea A. Kühn, Simone Zittel, Marius Moeller, Robert Pfister, Christoph Kamm, Anthony E. Lang, Yi Wen Tay, Ana Luísa deAlmeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S. Perlmutter, Jeanne S. Feuerstein, Victor S. C. Fung, Florence Chang, Richard L. Barbano, Steven Bellows, Aparna A. Wagle Shukla, Alberto J. Espay, Mark S. LeDoux, Brian D. Berman, Stephen Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H. A. Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja Lohmann

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Genetic Insights Into Craniosynostosis: Identification of Novel IL11RA Variants in Chinese Pediatric Patients by Ziwei Liu, Ding Zhou, Chunli Wang, Bixia Zheng, Qing Yan, Wei Zhou, Gang Wang

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Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review by Yujing Zhang, Mengxi Zhao, Xiangqian Li, Yongping Zhao, Yijie Sun, Jianzhong Zhang, Cong Yu, Cheng Zhou

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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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Congenital Ichthyosis: Clinical and Genetic Characteristics of the Disease by Nikolay N. Murashkin, Karine O. Avetisyan, Roman A. Ivanov, Svetlana G. Makarova

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Identification of candidate genes harboring pathogenic variants in congenital heart disease and laterality defects in Chinese population by Jinxin Wang, Jinxin Wang, Weicheng Chen, Weicheng Chen, Xianghui Huang, Xianghui Huang, Xianghui Huang, Han Gao, Han Gao, Zhiyu Feng, Zhiyu Feng, Chaozhong Tan, Chaozhong Tan, Quannan Zhuang, Quannan Zhuang, Yuan Gao, Yuan Gao, Shaojie Min, Shaojie Min, Yuquan Lu, Yuquan Lu, Feizhen Wu, Maoxiang Qian, Maoxiang Qian, Weili Yan, Weili Yan, Weili Yan, Wei Sheng, Wei Sheng, Wei Sheng, Wei Sheng, Guoying Huang, Guoying Huang, Guoying Huang, Guoying Huang

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Novel Variant of SLC34A3 in a Compound Heterozygous Brazilian Girl with Hereditary Hypophosphatemic Rickets with Hypercalciuria by Luciana Pinto Valadares, Daniel Rocha de Carvalho

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Global analysis of actionable genomic alterations in thyroid cancer and precision-based pharmacogenomic strategies by Samantha Espinoza-Ferrao, Gabriela Echeverría-Garcés, Gabriela Echeverría-Garcés, Sebastián Rivera-Orellana, José Bueno-Miño, Emilia Castellanos-Molina, Melanie Benítez-Núñez, Andrés López-Cortés

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Spectrum of genetic variants and yield of genetic testing in Slovenian probands with suspected cardiomyopathies surviving sudden cardiac arrest by Nina Vodnjov, Aleš Maver, Borut Petelin, Karin Writzl

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Generating a database by calculating the pathogenic variants and allele frequencies detected in hereditary cancers using genomic data: A nation study by Manal Salah Babiker Ali, Polat OLGUN, Ömer DİKER, Kübra Damla EROL, İlkem Özce ÖZÇELİK, Mahmut Çerkez ERGÖREN

Subjects: “…Pathogenic variants…”
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Application of multigene panel testing for bleeding, thrombotic, and platelet disorders in patients and the general population in China by Yaohua Cai, Wenyi Lin, Jun Deng, Zhipeng Cheng, Yanyi Tao, Hui Lu, Yunqing Xia, Tingting Wu, Liang V. Tang, Yu Hu

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Molecular analysis of BRCA1 and BRCA2 genes in La Rioja (Spain): five new variants by Raquel Salazar Saez, Miriam Zorrilla, Rosa Sánchez, Ana Cebollero, Isabel Manrique, Alfonso Martín, Leticia de Ávila, Alejandra Lacalle-Emborujo, Samuel Martin-Rodriguez, Iván Bernardo-González, Martina Alonso

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The crossroads of Leber hereditary optic neuropathy and autosomal dominant optic Atrophy: Clinical profiles of patients with coexisting pathogenic genetic variants by Mohammed A. Halawani, Nooran O. Badeeb

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Atrial electrical alterations with intact cardiac structure and contractile function in a mouse model of an HCM-linked ACTN2 variant by Maya Noureddine, Sophie Broadway-Stringer, Christopher O'Shea, Bethany A.I. Jones, Abbie Hayes, Chris Denning, Siobhan Loughna, Fiyaz Mohammed, Davor Pavlovic, Katja Gehmlich

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A Comprehensive Review of Somatic and Germline Biomarkers Associated with Childhood B-Cell Precursor Acute Lymphoblastic Leukemia: From Biological Significance to Precision Medicin... by Daniel Martínez Anaya, Johana Itzel Rodriguez Ruiz, María del Pilar Navarrete-Meneses, Patricia Pérez-Vera

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Bicuspid Aortic Valve and Sudden Cardiac Death by Cecilia Salzillo, Andrea Quaranta, Fabrizia Di Lizia, Michela Lombardo, Marco Matteo Ciccone, Vincenzo Ezio Santobuono, Enrica Macorano, Francesco Introna, Biagio Solarino, Andrea Marzullo

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Spontaneous Coronary Artery Dissection and a Family History of Aortic Dissection: A Genetic Association Study by Lucy McGrath‐Cadell, Stephanie Hesselson, Ingrid Tarr, Emma M. Rath, Michael Troup, Yunkai Gao, Keerat Junday, Monique Bax, Siiri E. Iismaa, Nicholas Collins, David W. M. Muller, Jason C. Kovacic, Eleni Giannoulatou, Robert M. Graham

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Part I: consensus statements and expert recommendations for HER2-negative early breast cancer in the Asia-Pacific region: diagnosis and risk assessment by Soo Chin Lee, Yeon Hee Park, Christian F. Singer, Judith Balmaña, Rebecca Alexandra Dent, Veronique Kiak-Mien Tan, Nadia Ayu Mulansari, Mastura Md Yusof, Frances Victoria F. Que, Yen-Shen Lu, Napa Parinyanitikul, Cam Phuong Pham, Nur Aishah Taib, Sun-Young Kong, Yoland Antill, Yoland Antill, Hee Jeong Kim

Subjects: “…BRCA germline pathogenic variants…”
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Three Novel Pathogenic Variants in Unrelated Vietnamese Patients with Cardiomyopathy by Dac Dai Tran, Nguyen Thi Kim Lien, Nguyen Van Tung, Nguyen Cong Huu, Phan Thao Nguyen, Do Anh Tien, Doan Thi Hoai Thu, Bui Quang Huy, Tran Thi Kim Oanh, Nguyen Thi Phuong Lien, Nguyen Thanh Hien, Nguyen Ngoc Lan, Le Tat Thanh, Nguyen Minh Duc, Nguyen Huy Hoang

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