(Q56889983)

4

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Mauno Vihinen

object named as

Mauno Vihinen

3

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author name string

Jacopo Celli

1

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Raymond Dalgleish

2

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Mauno Vihinen

3

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Peter E M Taschner

4

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Johan T den Dunnen

5

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Johan T. den Dunnen

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®).

5

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language of work or name

English

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publication date

February 2012

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3 November 2011

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published in

Human Mutation

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volume

33

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page(s)

291-7

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291-297

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issue

2

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cites work

1 reference

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Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics

21 January 2018

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UMD (Universal Mutation Database): 2005 update

21 January 2018

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Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases

21 January 2018

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Quality control in the discovery, reporting, and recording of genomic variation

21 January 2018

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A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases.

21 January 2018

1 reference

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Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

21 January 2018

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

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Sharing data between LSDBs and central repositories

21 January 2018

1 reference

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LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

21 January 2018

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LOVD v.2.0: the next generation in gene variant databases

21 January 2018

1 reference

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Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy

21 January 2018

1 reference

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Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010.

21 January 2018

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Locus-specific database domain and data content analysis: evolution and content maturation toward clinical use.

21 January 2018

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The CDKN2A database: Integrating allelic variants with evolution, structure, function, and disease association

21 January 2018

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BioPortal: ontologies and integrated data resources at the click of a mouse

21 January 2018

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Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)

21 January 2018

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NCBI Reference Sequences: current status, policy and new initiatives

21 January 2018

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MUTbase: maintenance and analysis of distributed mutation databases.

21 January 2018

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dbSNP: the NCBI database of genetic variation

21 January 2018

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The Human Gene Mutation Database: 2008 update

21 January 2018

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Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

21 January 2018

1 reference

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Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

21 January 2018

1 reference

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Analysis of published PKD1 gene sequence variants

21 January 2018

1 reference

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inferred from DOI database lookup

7 January 2021

based on heuristic

Novel tools for extraction and validation of disease-related mutations applied to Fabry disease

1 reference

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