(Q33981677)

30 July 2017

title

Distribution and medical impact of loss-of-function variants in the Finnish founder population (English)

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Hugh Christian Watkins

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Terho Lehtimäki

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Samuli Ripatti

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Samuli Ripatti

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Andres Metspalu

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Andres Metspalu

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Stacey Gabriel

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Stacey Gabriel

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Eija Hämäläinen

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Elaine T Lim

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Nathan O Stitziel

Nathan O Stitziel

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Priit Palta

Priit Palta

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Michael Inouye

Michael Inouye

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Jeffrey C Barrett

Jeffrey C Barrett

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Muredach P. Reilly

Muredach P Reilly

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Markus Perola

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Markus Perola

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Veikko Salomaa

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Mark I McCarthy

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Markku Laakso

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Markku Laakso

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Michael Boehnke

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Aarno Palotie

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Sekar Kathiresan

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Leif Groop

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Mark J Daly

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Aki S Havulinna

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Seppo Koskinen

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Sirpa Jalkanen

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Stefan Blankenberg

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Rany M Salem

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Xueling Sim

Xueling Sim

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Daniel G. MacArthur

Daniel G MacArthur

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Tanja Zeller

Tanja Zeller

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Domenico Girelli

Domenico Girelli

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Alisa Manning

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Alisa Manning

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Joel N Hirschhorn

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Benjamin Horne

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Svati Shah

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David M Altshuler

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Olli Raitakari

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Ruth McPherson

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Diego Ardissino

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Taru Tukiainen

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Marko Salmi

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Suzannah J. Bumpstead

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Suzannah Bumpstead

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Nelson B Freimer

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Karola Rehnström

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Yingleong Chan

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Monkol Lek

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Jason Flannick

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Claes Ladenvall

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Anuj Goel

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Martin Farrall

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Kristiina Aalto

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Mikael Maksimow

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Gerald K Hovingh

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Alex P Reiner

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Sequencing Initiative Suomi (SISu) Project

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language of work or name

English

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publication date

31 July 2014

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volume

10

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issue

7

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30 July 2017

page(s)

e1004494

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Creative Commons Attribution 4.0 International

30 July 2017

copyright license

start time

31 July 2014

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

The deleterious mutation load is insensitive to recent population history

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4117444

Transcriptome and genome sequencing uncovers functional variation in humans

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4117444

The Finnish disease heritage database (FinDis) update-a database for the genes mutated in the Finnish disease heritage brought to the next-generation sequencing era.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4117444

Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4117444

The Genotype-Tissue Expression (GTEx) project

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4117444

Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4117444

A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4117444

A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4117444

A systematic survey of loss-of-function variants in human protein-coding genes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4117444

Genetic predictors of fibrin D-dimer levels in healthy adults

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4117444

A population-specific HTR2B stop codon predisposes to severe impulsivity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4117444

Metabonomic, transcriptomic, and genomic variation of a population cohort

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4117444

An immune response network associated with blood lipid levels

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4117444

METAL: fast and efficient meta-analysis of genomewide association scans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4117444

Genetic variants associated with Lp(a) lipoprotein level and coronary disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4117444

Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4117444

A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4117444

McKusick's Online Mendelian Inheritance in Man (OMIM)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4117444

Common variants of FUT2 are associated with plasma vitamin B12 levels

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4117444

Proportionally more deleterious genetic variation in European than in African populations.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4117444

Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4117444

Hepatocyte-derived fibrinogen-related protein-1 is associated with the fibrin matrix of a plasma clot

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4117444

A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4117444

Cloning of the APECED gene provides new insight into human autoimmunity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4117444

Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4117444

Linkage disequilibrium mapping in isolated populations: the example of Finland revisited

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4117444

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4117444

Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits

5 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004494

Thirty-five-year trends in cardiovascular risk factors in Finland

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004494

Cohort Profile: The Cardiovascular Risk in Young Finns Study

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004494

Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004494

Genetically elevated lipoprotein(a) and increased risk of myocardial infarction

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004494

Genome-wide association study identifies novel loci associated with serum level of vitamin B12 in Chinese men

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25078778

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PGEN.1004494

1 reference

30 July 2017

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30 July 2017

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