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- 2023
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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
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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
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Mark
Novel F8 and F9 gene variants from the PedNet Hemophilia Registry classified according to ACMG/AMP guidelines
(
- Contribution to journal › Article
- 2019
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Mark
EPCAM mutation update : Variants associated with congenital tufting enteropathy and Lynch syndrome
(
- Contribution to journal › Article
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Mark
Checklist for gene/disease-specific variation database curators to enable ethical data management
(
- Contribution to journal › Article
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Mark
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification
(
- Contribution to journal › Article
- 2018
-
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
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Mark
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
(
- Contribution to journal › Article
- 2017
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Mark
PON-P and PON-P2 predictor performance in CAGI challenges : Lessons learned
(
- Contribution to journal › Article
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Mark
Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases
(
- Contribution to journal › Article
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Mark
How to Define Pathogenicity, Health, and Disease?
(
- Contribution to journal › Article
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Mark
Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI
(
- Contribution to journal › Article
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Mark
Working toward precision medicine : Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges
(
- Contribution to journal › Article
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Mark
One Gene, Several Diseases : The Characteristics of Pleiotropic Proteins
(
- Contribution to journal › Debate/Note/Editorial
- 2016
-
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
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Mark
VariOtator, A Software Tool for Variation Annotation with the Variation Ontology.
(
- Contribution to journal › Article
-
Mark
Both Generic and Protein-Specific Tolerance Predictors Are Needed
(
- Contribution to journal › Debate/Note/Editorial
-
Mark
Variation Interpretation Predictors : Principles, Types, Performance, and Choice
(
- Contribution to journal › Article
-
Mark
Content Analysis of Informed Consent for Whole Genome Sequencing Offered by Direct-to-Consumer Genetic Testing Companies
(
- Contribution to journal › Article
- 2015
-
Mark
Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.
(
- Contribution to journal › Article
-
Mark
Characterization of All Possible Single-Nucleotide Change Caused Amino Acid Substitutions in the Kinase Domain of Bruton Tyrosine Kinase
(
- Contribution to journal › Article
-
Mark
Varisnp, A Benchmark Database For Variations from dbSNP.
(
- Contribution to journal › Article
-
Mark
The importance of proper testing of predictor performance.
(
- Contribution to journal › Article
- 2014
-
Mark
Majority Vote and Other Problems when using Computational Tools.
(
- Contribution to journal › Article
-
Mark
Performance of Protein Disorder Prediction Programs on Amino Acid Substitutions
(
- Contribution to journal › Scientific review
- 2013
-
Mark
VariBench: A Benchmark Database for Variations
(
- Contribution to journal › Article
-
Mark
Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain
(
- Contribution to journal › Article
-
Mark
Guidelines for reporting and using prediction tools for genetic variation analysis
(
- Contribution to journal › Article
-
Mark
Making Sense of Unclassified Missense Substitutions in MMR Genes.
(
- Contribution to journal › Article
- 2012
-
Mark
Conserved and Quickly Evolving Immunome Genes Have Different Evolutionary Paths
(
- Contribution to journal › Article
-
Mark
PON-P: Integrated Predictor for Pathogenicity of Missense Variants
(
- Contribution to journal › Article
-
Mark
Human variome project country nodes: Documenting genetic information within a country
(
- Contribution to journal › Article
-
Mark
Classification of mismatch repair gene missense variants with PON-MMR
(
- Contribution to journal › Article
-
Mark
Curating gene variant databases (LSDBs): toward a universal standard.
(
- Contribution to journal › Article
-
Mark
Guidelines for establishing locus specific databases.
(
- Contribution to journal › Article
-
Mark
Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers
(
- Contribution to journal › Article
-
Mark
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database
(
- Contribution to journal › Article
- 2011
-
Mark
Searching for the Missing Heritability of Complex Diseases
(
- Contribution to journal › Letter
-
Mark
Mutation Update for the PORCN Gene
(
- Contribution to journal › Article
-
Mark
Performance of mutation pathogenicity prediction methods on missense variants.
(
- Contribution to journal › Article
-
Mark
LOVD v.2.0 : the next generation in gene variant databases
(
- Contribution to journal › Article
- 2010
-
Mark
Molecular Analysis Expands the Spectrum of Phenotypes Associated with GLI3 Mutations
(
- Contribution to journal › Article
-
Mark
How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.
(
- Contribution to journal › Article
-
Mark
Performance of protein stability predictors.
(
- Contribution to journal › Article
-
Mark
The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards".
(
- Contribution to journal › Article
-
Mark
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.
(
- Contribution to journal › Article
- 2009
-
Mark
Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations
(
- Contribution to journal › Article
-
Mark
Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.
(
- Contribution to journal › Scientific review
-
Mark
A novel mutation in CD40 and its functional characterization.
(
- Contribution to journal › Article
-
Mark
Sharing data between LSDBs and central repositories.
(
- Contribution to journal › Article
-
Mark
Planning the human variome project: the Spain report.
(
- Contribution to journal › Article
-
Mark
Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics
(
- Contribution to journal › Article
- 2008
-
Mark
Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH).
(
- Contribution to journal › Article
- 2007
-
Mark
PhenCode: connecting ENCODE data with mutations and phenotype.
(
- Contribution to journal › Article
- 2006
-
Mark
A quality assessment survey of SNP genotyping laboratories
(
- Contribution to journal › Article
-
Mark
Long-range PCR facilitates the identification of PMS2-specific mutations
(
- Contribution to journal › Article
-
Mark
BTKbase: the mutation database for X-linked agammaglobulinemia.
(
- Contribution to journal › Scientific review
-
Mark
Immunodeficiency mutation databases (IDbases).
(
- Contribution to journal › Scientific review
-
Mark
Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations.
(
- Contribution to journal › Article
- 2005
-
Mark
The 5 ' Region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences
(
- Contribution to journal › Article
-
Mark
KinMutBase: a registry of disease-causing mutations in protein kinase domains.
(
- Contribution to journal › Article
- 2004
-
Mark
APECED-causing mutations in AIRE reveal the functional domains of the protein.
(
- Contribution to journal › Article
- 2003
-
Mark
BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from northeastern Poland
(
- Contribution to journal › Article
-
Mark
Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene
(
- Contribution to journal › Article
- 2002
-
Mark
Novel insertions of Bruton tyrosine kinase in patients with X-linked agammaglobulinemia.
(
- Contribution to journal › Article
- 2001
-
Mark
Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency
(
- Contribution to journal › Article
- 2000
-
Mark
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)
(
- Contribution to journal › Article
- 1999
-
Mark
Mutations of the human BTK gene coding for Bruton tyrosine kinase in X-linked agammaglobulinemia
(
- Contribution to journal › Article
- 1998
-
Mark
Novel Missense Mutation (P131R) in the HMG Box of SRY in XY Sex Reversal
(
- Contribution to journal › Debate/Note/Editorial
- 1997
-
Mark
Registries of immunodeficiency patients and mutations
(
- Contribution to journal › Scientific review