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Genetic variants of unknown significance in alpha‐galactosidase A: Cellular delineation from Fabry disease
Klein, Alexandra, Klug, Katharina, Breyer, Maximilian, Grüner, Julia, Medala, Vijay Krishna, Nordbeck, Peter, Wanner, Christoph, Klopocki, Eva, Üçeyler, Nurcan
Published in Journal of inherited metabolic disease (01.07.2024)
Published in Journal of inherited metabolic disease (01.07.2024)
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Variants of unknown significance (VUS) in DNA repair genes in Caucasian men with muscle invasive bladder cancer (MIBC): A case of "serendipity" pushing for a BC screening program
Lughezzani, Giovanni, Contieri, Roberto, Avolio, Pier Paolo, Fasulo, Vittorio, Paciotti, Marco, Chiarelli, Giuseppe, Garofano, Giuseppe, Soldà, Giulia, Asselta, Rosanna, Capalbo, Anita, Colombo, Piergiuseppe, Cavalli, Pietro, Buffi, NicolòMaria, Saita, Alberto, Casale, Paolo, Rodolfo, Hurle
Published in Journal of clinical oncology (10.02.2025)
Published in Journal of clinical oncology (10.02.2025)
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How does re-classification of variants of unknown significance (VUS) impact the management of patients at risk for hereditary breast cancer?
Kwong, Ava, Ho, Cecilia Yuen Sze, Shin, Vivian Yvonne, Au, Chun Hang, Chan, Tsun-Leung, Ma, Edmond Shiu Kwan
Published in BMC medical genomics (31.05.2022)
Published in BMC medical genomics (31.05.2022)
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Uncertain diagnosis of Fabry disease: Consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance
Smid, B.E., van der Tol, L., Cecchi, F., Elliott, P.M., Hughes, D.A., Linthorst, G.E., Timmermans, J., Weidemann, F., West, M.L., Biegstraaten, M., Lekanne Deprez, R.H., Florquin, S., Postema, P.G., Tomberli, B., van der Wal, A.C., van den Bergh Weerman, M.A., Hollak, C.E.
Published in International journal of cardiology (15.12.2014)
Published in International journal of cardiology (15.12.2014)
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Abstract 18478: Association of Family History and Cardiomyopathy-Associated Gene Variants of Unknown Significance in Ethnic Minority Patients With Early Onset Atrial Fibrillation
Deshpande, Ashwini, Hill, Michael, Dabbas, Jood, Sandu, Shashank, Boxley, Peter, Arnold, Joshua, Qiao, Victor, Chalazan, Brandon, Tofovic, David, Darbar, Dawood
Published in Circulation (New York, N.Y.) (07.11.2023)
Published in Circulation (New York, N.Y.) (07.11.2023)
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Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene
van de Stadt, Stephanie I. W., Mooyer, Petra A. W., Dijkstra, Inge M. E., Dekker, Conny J. M., Vats, Divya, Vera, Moin, Ruzhnikov, Maura R. Z., van Haren, Keith, Tang, Nelson, Koop, Klaas, Willemsen, Michel A., Hui, Joannie, Vaz, Frédéric M., Ebberink, Merel S., Engelen, Marc, Kemp, Stephan, Ferdinandusse, Sacha
Published in Genes (30.11.2021)
Published in Genes (30.11.2021)
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Variants of Unknown Significance (VUS) in Maturity-Onset Diabetes of the Young (MODY): High Rate of Conundrum Resolution via VUS Reanalysis
Alarcon, Guido, Maston, Glenn A, Hoffman, Carol A, Posey, Jennifer E, Redondo, Maria Jose, Tosur, Mustafa
Published in Hormone research in paediatrics (28.05.2024)
Published in Hormone research in paediatrics (28.05.2024)
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Pharmacogenomic Next-Generation DNA Sequencing: Lessons from the Identification and Functional Characterization of Variants of Unknown Significance in CYP2C9 and CYP2C19
Devarajan, Sandhya, Moon, Irene, Ho, Ming-Fen, Larson, Nicholas B., Neavin, Drew R., Moyer, Ann M., Black, John L., Bielinski, Suzette J., Scherer, Steven E., Wang, Liewei, Weinshilboum, Richard M., Reid, Joel M.
Published in Drug metabolism and disposition (01.04.2019)
Published in Drug metabolism and disposition (01.04.2019)
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Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?
Favier, Maud, Delanne, Julian, Gorincour, Guillaume, Faivre, Laurence, Racine, Caroline, Philippe, Christophe, Duffourd, Yannis, Vitobello, Antonio, Rousseau, Thierry, Martz, Olivia, Tarris, Georges, Oualiken, Camélia, Thauvin‐Robinet, Christel, Mau‐Them, Frédéric Tran
Published in Prenatal diagnosis (01.03.2024)
Published in Prenatal diagnosis (01.03.2024)
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164 The association between neurotrophic tropomycin receptor kinase (NTRK) variants of unknown significance (VUS’s) and response to immune checkpoint inhibitors in solid tumors
Khushman, Moh’d, Seeber, Andreas, Iglesia, Michael, Krysiak, Kilannin, Sun, Lulu, Firwana, Belal, Manne, Upender
Published in Journal for immunotherapy of cancer (01.11.2023)
Published in Journal for immunotherapy of cancer (01.11.2023)
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Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study
D'Amore, Angelica, Tessa, Alessandra, Casali, Carlo, Dotti, Maria Teresa, Filla, Alessandro, Silvestri, Gabriella, Antenora, Antonella, Astrea, Guja, Barghigiani, Melissa, Battini, Roberta, Battisti, Carla, Bruno, Irene, Cereda, Cristina, Dato, Clemente, Di Iorio, Giuseppe, Donadio, Vincenzo, Felicori, Monica, Fini, Nicola, Fiorillo, Chiara, Gallone, Salvatore, Gemignani, Federica, Gigli, Gian Luigi, Graziano, Claudio, Guerrini, Renzo, Gurrieri, Fiorella, Kariminejad, Ariana, Lieto, Maria, Marques LourenḈo, Charles, Malandrini, Alessandro, Mandich, Paola, Marcotulli, Christian, Mari, Francesco, Massacesi, Luca, Melone, Maria A. B., Mignarri, Andrea, Milone, Roberta, Musumeci, Olimpia, Pegoraro, Elena, Perna, Alessia, Petrucci, Antonio, Pini, Antonella, Pochiero, Francesca, Pons, Maria Roser, Ricca, Ivana, Rossi, Salvatore, Seri, Marco, Stanzial, Franco, Tinelli, Francesca, Toscano, Antonio, Valente, Mariarosaria, Federico, Antonio, Rubegni, Anna, Santorelli, Filippo Maria
Published in Frontiers in neurology (04.12.2018)
Published in Frontiers in neurology (04.12.2018)
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Reviewing hereditary connective tissue disorders: Proposals of harmonic medicolegal assessments
Galante, Nicola, Bedeschi, Maria Francesca, Beltrami, Benedetta, Bailo, Paolo, Silva Palomino, Laura Alicia, Piccinini, Andrea
Published in International journal of legal medicine (01.11.2024)
Published in International journal of legal medicine (01.11.2024)
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Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing
Park, Hye-Sun, Lee, Yeon Hee, Hong, Namki, Won, Dongju, Rhee, Yumie
Published in Frontiers in endocrinology (Lausanne) (28.04.2022)
Published in Frontiers in endocrinology (Lausanne) (28.04.2022)
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Methods, Compositions, and Systems for Classification of Genetic Variants of Unknown Significance
Year of Publication 18.09.2020
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Patent