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Journal Article
Clinical Genetics, ISSN 0009-9163, 11/2013, Volume 84, Issue 5, pp. 453 - 463
Journal Article
Clinical Genetics, ISSN 0009-9163, 05/2018, Volume 93, Issue 5, pp. 1022 - 1029
This study examined the impact of disclosing subclassifications of genetic variants of uncertain significance (VUS) on behavioral intentions. We studied return... 
VUS subclassification | exome sequencing | result disclosure | decision regret | variant of uncertain significance | SELF-EFFICACY | RISK PERCEPTIONS | DISTRESS | BEHAVIOR | CARDIOMYOPATHY | GENOME | INTENTIONS | DECISIONS | GENETICS & HEREDITY | PARTICIPANTS | HEALTH BELIEF MODEL | Genomics | Genetic variance | Behavior | Cardiomyopathy | Heart diseases | VUS sub-classification
Journal Article
Journal of the Taiwan Institute of Chemical Engineers, ISSN 1876-1070, 2011, Volume 42, Issue 1, pp. 138 - 157
Journal Article
Nuclear and Particle Physics Proceedings, ISSN 2405-6014, 06/2017, Volume 287-288, pp. 29 - 32
The HFAG-Tau sub-group has performed in 2016 two similar global fits on the lepton branching fractions measurements. One, unitarity constrained, has been... 
lepton | CKM | Vus | tau | lepton universality | lepton flavour violation | LFV
Journal Article
Human Mutation, ISSN 1059-7794, 08/2019, Volume 40, Issue 8, pp. 1077 - 1083
Increasing use of next‐generation sequencing technologies in clinical diagnostics allows large‐scale discovery of genetic variants, but also results in... 
CAKUT | VUS | ZBTB24 | ICF syndrome | ANOMALIES | GENETICS & HEREDITY | CENTROMERIC INSTABILITY | MUTATIONS | IMMUNODEFICIENCY | Genetic variance | Phenotypes | Immunodeficiency | Index Medicus
Journal Article
The Breast, ISSN 0960-9776, 06/2019, Volume 45, pp. 29 - 35
Multigene panel testing for breast and ovarian cancer predisposition diagnosis is a useful tool as it makes possible to sequence a considerable number of genes... 
Clinical utility | Analytical validity | VUS | Multigene panel | Clinical validity | NGS | BRCA1 | BRCA2
Journal Article
Journal of Community Genetics, ISSN 1868-310X, 7/2018, Volume 9, Issue 3, pp. 209 - 215
Despite ongoing research efforts to reclassify BRCA variant of uncertain significance (VUS), results for strategies to disseminate findings to genetic... 
Human Genetics | Gene Function | Public Health | Patient education | Biomedicine | Genetic counseling | Variant of uncertain significance (VUS) | Gene Therapy | Hereditary cancer | Genetic testing | Epidemiology | VUS reclassification | Analysis | Genetic screening | Training | Statistical analysis | Health risk assessment | Genetic counselling | Reclassification | Original
Journal Article
Physical Review Letters, ISSN 0031-9007, 11/2018, Volume 121, Issue 20, p. 202003
We propose and apply a new approach to determining |Vus| using dispersion relations with weight functions having poles at Euclidean (spacelike) momentum which... 
Polarization | Quarks | Sum rules | Weight | Decay | Quantum chromodynamics | PHYSICS OF ELEMENTARY PARTICLES AND FIELDS | HVP | CKM | OPE | Tau | UKQCD | EFT | RBC | QCD | hadronic | Vus | lattice | polarization | electroweak
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2018, Volume 103, Issue 4, pp. 498 - 508
Loss-of-function pathogenic variants in confer a predisposition to breast and ovarian cancer. Genetic testing for sequence changes in frequently reveals a... 
BRCA1 | variants of uncertain significance | VUS | DNA repair | missense variants | E3 LIGASE | TUMOR SUPPRESSION | GENETICS & HEREDITY | SEQUENCE VARIANTS | CLASSIFICATION | IDENTIFICATION | BINDING | Care and treatment | Genetic aspects | Breast cancer | Research | Methods | Genetic screening | Ovarian cancer | Index Medicus
Journal Article