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- 2024
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Mark
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
(
- Contribution to journal › Article
- 2023
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Mark
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
2023) In European Journal of Human Genetics(
- Contribution to journal › Article
- 2022
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Mark
Individual Genetic Heterogeneity
(
- Contribution to journal › Scientific review
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Mark
When a Synonymous Variant Is Nonsynonymous
(
- Contribution to journal › Article
- 2021
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Mark
PON-Sol2 : Prediction of effects of variants on protein solubility
(
- Contribution to journal › Article
- 2020
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Mark
Identify New Genetic Variants on Chromosome 6 Associated with Mortality after Heart Transplantation
2020) In The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation 39(4). p.473-473(
- Contribution to journal › Published meeting abstract
- 2018
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Mark
Systematics for types and effects of DNA variations
(
- Contribution to journal › Scientific review
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Mark
Mu transpososome activity-profiling yields hyperactive MuA variants for highly efficient genetic and genome engineering
(
- Contribution to journal › Article
- 2017
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Mark
Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies
(
- 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
One Gene, Several Diseases : The Characteristics of Pleiotropic Proteins
(
- Contribution to journal › Debate/Note/Editorial
- 2016
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Mark
Establishment of an international database for genetic variants in esophageal cancer
(
- Contribution to journal › Article
- 2015
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Mark
Standard development at the Human Variome Project.
(
- Contribution to journal › Article
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Mark
PON-P2: Prediction Method for Fast and Reliable Identification of Harmful Variants.
(
- Contribution to journal › Article
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Mark
No more hidden solutions in bioinformatics.
(
- Contribution to journal › Debate/Note/Editorial
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Mark
Muddled genetic terms miss and mess the message.
(
- Contribution to journal › Debate/Note/Editorial
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Mark
Varisnp, A Benchmark Database For Variations from dbSNP.
(
- Contribution to journal › Article
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Mark
Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.
(
- Contribution to journal › Article
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Mark
Types and effects of protein variations.
(
- Contribution to journal › Article
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Mark
Characterization of All Possible Single-Nucleotide Change Caused Amino Acid Substitutions in the Kinase Domain of Bruton Tyrosine Kinase
(
- Contribution to journal › Article
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Mark
The importance of proper testing of predictor performance.
(
- Contribution to journal › Article
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Mark
Genetic Variation in Bruton Tyrosine Kinase
2015) p.75-85(
- Chapter in Book/Report/Conference proceeding › Book chapter
- 2014
-
Mark
Variation ontology: annotator guide.
(
- Contribution to journal › Article
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Mark
Clustering of gene ontology terms in genomes.
(
- Contribution to journal › Article
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Mark
Majority Vote and Other Problems when using Computational Tools.
(
- Contribution to journal › Article
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Mark
Performance of Protein Disorder Prediction Programs on Amino Acid Substitutions
(
- Contribution to journal › Scientific review
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Mark
Novel Association of Neurofibromatosis Type 1-Causing Mutations in Families With Neurofibromatosis-Noonan Syndrome
(
- Contribution to journal › Article
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Mark
Proper reporting of predictor performance.
(
- Contribution to journal › Letter
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Mark
Contribution of pseudogenes to sequence diversity.
2014) p.15-24(
- Chapter in Book/Report/Conference proceeding › Book chapter
- 2013
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Mark
Proteomic Changes during B Cell Maturation: 2D-DIGE Approach
(
- Contribution to journal › Article
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Mark
Gene Expression Profiles in Human and Mouse Primary Cells Provide New Insights into the Differential Actions of Vitamin D-3 Metabolites
(
- Contribution to journal › Article
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Mark
Copy Number Variation Analysis in Familial BRCA1/2-Negative Finnish Breast and Ovarian Cancer
(
- Contribution to journal › Article
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Mark
VariBench: A Benchmark Database for Variations
(
- Contribution to journal › Article
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Mark
Structure-based prediction of the effects of a missense variant on protein stability
(
- Contribution to journal › Article
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Mark
Abnormal cerebellar development and ataxia in CARP VIII morphant zebrafish
(
- Contribution to journal › Article
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Mark
Guidelines for reporting and using prediction tools for genetic variation analysis
(
- Contribution to journal › Article
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Mark
Making Sense of Unclassified Missense Substitutions in MMR Genes.
(
- Contribution to journal › Article
- 2012
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Mark
Conserved and Quickly Evolving Immunome Genes Have Different Evolutionary Paths
(
- Contribution to journal › Article
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Mark
Classification of mismatch repair gene missense variants with PON-MMR
(
- Contribution to journal › Article
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Mark
PON-P: Integrated Predictor for Pathogenicity of Missense Variants
(
- Contribution to journal › Article
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Mark
Human variome project country nodes: Documenting genetic information within a country
(
- Contribution to journal › Article
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Mark
Guidelines for establishing locus specific databases.
(
- Contribution to journal › Article
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Mark
Curating gene variant databases (LSDBs): toward a universal standard.
(
- Contribution to journal › Article
- 2011
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Mark
PROlocalizer: integrated web service for protein subcellular localization prediction.
(
- Contribution to journal › Article
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Mark
Performance of mutation pathogenicity prediction methods on missense variants.
(
- Contribution to journal › Article
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Mark
ETS1 mediates MEK1/2-dependent overexpression of cancerous inhibitor of protein phosphatase 2A (CIP2A) in human cancer cells.
(
- Contribution to journal › Article
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Mark
Genetic tests need the Human Variome Project.
(
- Contribution to journal › Letter
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Mark
Clarity and claims in variation/mutation databasing.
(
- Contribution to journal › Letter
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Mark
Mutation (variation) databases and registries: a rationale for coordination of efforts.
(
- Contribution to journal › Letter
- 2010
-
Mark
Accuracy of protein hydropathy predictions.
(
- Contribution to journal › Article