1 – 20 of 73
- show: 20
- |
- sort: year (new to old)
Close
Embed this list
<iframe src=" "
width=" "
height=" "
allowtransparency="true"
frameborder="0">
</iframe>
- 2023
-
Mark
BTKbase, Bruton Tyrosine Kinase Variant Database in X-Linked Agammaglobulinemia : Looking Back and Ahead
(
- Contribution to journal › Article
-
Mark
A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: Application to BRCA1 and BRCA2
(
- Contribution to journal › Article
- 2022
-
Mark
Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocation
(
- Contribution to journal › Article
-
Mark
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach
(
- Contribution to journal › Article
- 2020
-
Mark
Novel F8 and F9 gene variants from the PedNet Hemophilia Registry classified according to ACMG/AMP guidelines
(
- Contribution to journal › Article
- 2019
-
Mark
EPCAM mutation update : Variants associated with congenital tufting enteropathy and Lynch syndrome
(
- Contribution to journal › Article
-
Mark
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification
(
- Contribution to journal › Article
-
Mark
Checklist for gene/disease-specific variation database curators to enable ethical data management
(
- Contribution to journal › Article
- 2018
-
Mark
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
(
- Contribution to journal › Article
-
Mark
Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposis
(
- Contribution to journal › Article
- 2017
-
Mark
Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI
(
- Contribution to journal › Article
-
Mark
Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases
(
- Contribution to journal › Article
-
Mark
PON-P and PON-P2 predictor performance in CAGI challenges : Lessons learned
(
- Contribution to journal › Article
-
Mark
Working toward precision medicine : Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges
(
- Contribution to journal › Article
-
Mark
How to Define Pathogenicity, Health, and Disease?
(
- Contribution to journal › Article
-
Mark
One Gene, Several Diseases : The Characteristics of Pleiotropic Proteins
(
- Contribution to journal › Debate/Note/Editorial
- 2016
-
Mark
VariOtator, A Software Tool for Variation Annotation with the Variation Ontology.
(
- Contribution to journal › Article
-
Mark
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
2016) In Human Mutation(
- Contribution to journal › Article
-
Mark
Human Variome Project Quality Assessment Criteria for Variation Databases.
(
- Contribution to journal › Article
-
Mark
Both Generic and Protein-Specific Tolerance Predictors Are Needed
(
- Contribution to journal › Debate/Note/Editorial