Prevalence and oncologic outcomes of mutation and variant of unknown significance in epithelial ovarian carcinoma patients in Korea by Jun Hyeong Seo, Soo Young Jeong, Myeong Seon Kim, Jun Hyeok Kang, E Sun Paik, Yoo-Young Lee, Tae-Joong Kim, Jeong-Won Lee, Byoung-Gie Kim, Duk-Soo Bae, Chel Hun Choi

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Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients by Takahiko Koyama, Kahn Rhrissorrakrai, Laxmi Parida

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Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing by Stattin Eva-Lena, Boström Ida, Winbo Annika, Cederquist Kristina, Jonasson Jenni, Jonsson Björn-Anders, Diamant Ulla-Britt, Jensen Steen M, Rydberg Annika, Norberg Anna

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Revisited analysis of a SHIVA01 trial cohort using functional mutational analyses successfully predicted treatment outcome by Maud Kamal, Gabi Tarcic, Sylvain Dureau, Oded Edelheit, Zohar Barbash, Charlotte Lecerf, Claire Morel, Benjamin Miron, Celine Callens, Nicolas Servant, Ivan Bieche, Michael Vidne, Christophe Le Tourneau

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Copy Number Variants in 30 Saudi Pediatric Patients with Neurodevelopmental Disorders: From Unknown Significance to Diagnosis by Raniah Saleem Alotibi, Mariam M. Al Eissa, Taghrid Aloraini, Khalidah Khalid Nasser, Muneera J. Al Shammari, Amerh S. Alqahtani

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Modeling a variant of unknown significance in the Drosophila ortholog of the human cardiogenic gene NKX2.5 by TyAnna L. Lovato, Brenna Blotz, Cayleen Bileckyj, Christopher A. Johnston, Richard M. Cripps

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Diagnostic mRNA splicing assay for variants in BRCA1 and BRCA2 identified two novel pathogenic splicing aberrations by Teresia Wangensteen, Caroline Nangota Felde, Deeqa Ahmed, Lovise Mæhle, Sarah Louise Ariansen

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Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance by Fatemeh Ghorbani, Mohamed Z. Alimohamed, Mohamed Z. Alimohamed, Mohamed Z. Alimohamed, Juliana F. Vilacha, Krista K. Van Dijk, Jelkje De Boer-Bergsma, Michiel R. Fokkens, Henny Lemmink, Rolf H. Sijmons, Birgit Sikkema-Raddatz, Matthew R. Groves, Corien C. Verschuuren-Bemelmans, Dineke S. Verbeek, Cleo C. Van Diemen, Helga Westers

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Using Co-segregation and Loss of Heterozygosity Analysis to Define the Pathogenicity of Unclassified Variants in Hereditary Breast Cancer Patients by Rebeca Silveira Grasel, Paula Silva Felicio, André Escremim de Paula, Natalia Campacci, Felipe Antônio de Oliveira Garcia, Edilene Santos de Andrade, Adriane Feijó Evangelista, Gabriela Carvalho Fernandes, Cristina da Silva Sabato, Pedro De Marchi, Pedro De Marchi, Cristiano de Pádua Souza, Cristiano de Pádua Souza, Cláudia Alessandra Andrade de Paula, Giovana Tardin Torrezan, Henrique de Campos Reis Galvão, Dirce Maria Carraro, Dirce Maria Carraro, Edenir Inêz Palmero, Edenir Inêz Palmero, Edenir Inêz Palmero, Edenir Inêz Palmero

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Assessing pathogenicity of mismatch repair variants of uncertain significance by molecular tumor analysis by Anne-Sophie van der Werf't Lam, Noah C. Helderman, Arnoud Boot, Diantha Terlouw, Hans Morreau, Hailian Mei, Rebecca E.E. Esveldt-van Lange, Inge M.M. Lakeman, Christi J. van Asperen, Emmelien Aten, Nandy Hofland, Pia A.M. de Koning Gans, Emily Rayner, Carli Tops, Niels de Wind, Tom van Wezel, Maartje Nielsen

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Prenatal diagnosis of a maternal 7.22-Mb deletion at chromosome 4q32.2q32.3 by SNP array by Pingping Zhang, Yanmei Sun, Ping Huo, Haishen Tian, Jian Gao, Yali Li

Subjects: “…Variant of unknown significance…”
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Resistance to Thyroid Hormone Beta: A Focused Review by Theodora Pappa, Samuel Refetoff

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No evidence of Fabry disease in a patient with the new p.Met70Val GLA gene variant by Irene Capelli, Roberta Di Costanzo, Valeria Aiello, Sarah Lerario, Paola De Giovanni, Marcello Montevecchi, Davide Cerretani, Vincenzo Donadio, Gaetano La Manna, Renzo Mignani

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Impact of multiple MEFV variants of unknown significance on the diagnosis and clinical presentation of familial Mediterranean fever by Dai Kishida, Masahide Yazaki, Akinori Nakamura, Ayako Tsuchiya-Suzuki, Takanori Ichikawa, Yasuhiro Shimojima, Yoshiki Sekijima

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Fabry Disease with Genetic Variants of Unknown Significance and Concomitant Immunoglobulin A Nephropathy by Huan Zhou, Siqing Wang, Yilin Chen, Dandan Yang, Yi Tang, Jiaxing Tan, Wei Qin

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Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance by Amina Kurtovic-Kozaric, Lejla Delalic, Belma Mutapcic, Lejla Comor, Eric Siciliano, Mark J. Kiel

Subjects: “…variants of unknown significance…”
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Genetic testing for familial hypercholesterolemia—past, present, and future by Marta Futema, Alison Taylor-Beadling, Maggie Williams, Steve E. Humphries

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Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing by Diderich KEM, Klapwijk JE, van der Schoot V, Brüggenwirth HT, Joosten M, Srebniak MI

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Colchicine – an effective treatment for children with a clinical diagnosis of autoinflammatory diseases without pathogenic gene variants by Tatjana Welzel, Anna L. Wildermuth, Norbert Deschner, Susanne M. Benseler, Jasmin B. Kuemmerle-Deschner

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Actionable Variants of Unknown Significance in Inherited Arrhythmogenic Syndromes: A Further Step Forward in Genetic Diagnosis by Estefanía Martínez-Barrios, Andrea Greco, José Cruzalegui, Sergi Cesar, Nuria Díez-Escuté, Patricia Cerralbo, Fredy Chipa, Irene Zschaeck, Miguel Fogaça-da-Mata, Carles Díez-López, Elena Arbelo, Simone Grassi, Antonio Oliva, Rocío Toro, Georgia Sarquella-Brugada, Oscar Campuzano

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