(Q28597672)

10

0 references

Marie-Pierre Dubé

20

0 references

Nona Sotoodehnia

28

0 references

Charles Kooperberg

22

0 references

Cecilia Lindgren

37

Cecilia M Lindgren

0 references

Mark Caulfield

Mark Caulfield

19

0 references

Tuğçe Karaderi

Tugce Karaderi

11

0 references

Ruth J. Loos

33

Ruth J F Loos

0 references

Erwin Böttinger

16

Erwin P Bottinger

0 references

Hanieh Yaghootkar

8

Hanieh Yaghootkar

0 references

Kari E North

34

Kari E North

0 references

Mariaelisa Graff

6

Mariaelisa Graff

0 references

Tim Frayling

32

Timothy M Frayling

0 references

Patricia B Munroe

31

Patricia B Munroe

0 references

Todd L. Edwards

35

Todd L Edwards

0 references

Ulrike Peters

25

Ulrike Peters

0 references

Alisa Manning

2

Alisa K Manning

0 references

Joel N Hirschhorn

29

Joel N Hirschhorn

0 references

Jean-Claude Tardif

36

Jean-Claude Tardif

0 references

Yingchang Lu

17

Yingchang Lu

0 references

Alexander P Reiner

26

Alex P Reiner

0 references

Rebecca D. Jackson

21

Rebecca D Jackson

0 references

author name string

Samuel Lessard

1

0 references

Cécile Low-Kam

3

0 references

Paul L Auer

4

0 references

Ayush Giri

5

0 references

Jian'an Luan

9

0 references

Chris Carlson

18

0 references

Barbara McKnight

23

0 references

Ian Mongrain

24

0 references

David Rhainds

27

0 references

Robert A Scott

30

0 references

Guillaume Lettre

Analysis of protein-coding genetic variation in 60,706 humans

38

0 references

language of work or name

English

0 references

publication date

15 May 2016

0 references

published in

Human Molecular Genetics

0 references

volume

25

0 references

page(s)

2082-2092

0 references

issue

10

0 references

cites work

1 reference

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An integrated map of genetic variation from 1,092 human genomes

17 March 2017

1 reference

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A map of human genome variation from population-scale sequencing

17 March 2017

1 reference

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Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering

17 March 2017

1 reference

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PKHDL1, a homolog of the autosomal recessive polycystic kidney disease gene, encodes a receptor with inducible T lymphocyte expression

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062577

The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II

17 March 2017

1 reference

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A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction

17 March 2017

1 reference

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

17 March 2017

1 reference

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062577

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062577

Homozygous loss-of-function variants in European cosmopolitan and isolate populations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062577

Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062577

Identification of a large set of rare complete human knockouts

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062577

Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062577

Human knockout research: new horizons and opportunities

29 September 2017

1 reference

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The Mouse Genome Database (MGD): facilitating mouse as a model for human biology and disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062577

Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062577

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062577

Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062577

Genic intolerance to functional variation and the interpretation of personal genomes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062577

dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062577

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062577

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062577

Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062577

Mendelian disorders deserve more attention

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062577

Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062577

Treatment of primary hyperoxaluria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062577

Human genetics as a foundation for innovative drug development.

29 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDW055

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDW055

Body growth after combined liver-kidney transplantation in children with primary hyperoxaluria type 1.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDW055

Genetic model testing and statistical power in population-based association studies of quantitative traits

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26908616

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Laron dwarfism and mutations of the growth hormone-receptor gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26908616