(Q49637461)

http://europepmc.org/abstract/PMC/5798982

21 February 2018

title

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants. (English)

1 reference

http://europepmc.org/abstract/PMC/5798982

21 February 2018

main subject

whole genome sequencing

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Brett Trost

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Sergio L Pereira

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Jeffrey R MacDonald

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Matthew R Hildebrandt

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

James Ellis

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

M Stephen Meyn

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

S. Mohsen Hosseini

42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

13

Daniele Merico

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

author name string

Miriam S Reuter

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Susan Walker

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Joe Whitney

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Iris Cohn

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Neal Sondheimer

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Tara A Paton

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Jo-Anne Herbrick

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Richard F Wintle

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Jennifer Howe

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Chao Lu

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Thomas Nalpathamkalam

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Wilson W L Sung

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Zhuozhi Wang

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Rohan V Patel

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Giovanna Pellecchia

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

John Wei

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Lisa J Strug

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Sherilyn Bell

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Barbara Kellam

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Melanie M Mahtani

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Anne S Bassett

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Yvonne Bombard

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Rosanna Weksberg

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Cheryl Shuman

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Ronald D Cohn

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Dimitri J Stavropoulos

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Sarah Bowdin

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Wei Wei

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Asli Romm

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Peter Pasceri

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Peter Ray

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Nasim Monfared

41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Ann M Joseph-George

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Fred W Keeley

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Ryan A Cook

45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Marc Fiume

46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Hin C Lee

47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Christian R Marshall

48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Jill Davies

49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Allison Hazell

50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Janet A Buchanan

51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Michael J Szego

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Bhooma Thiruvahindrapuram

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Stephen W Scherer

53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

language of work or name

English

0 references

publication date

1 February 2018

1 reference

http://europepmc.org/abstract/PMC/5798982

21 February 2018

published in

Canadian Medical Association Journal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

volume

190

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

page(s)

E126-E136

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

2 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

22 May 2018

1 reference

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Human Y-chromosome variation in the genome-sequencing era.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Single nucleotide polymorphisms and domain/splice variants modulate assembly and elastomeric properties of human elastin. Implications for tissue specificity and durability of elastic tissue

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Detection of human adaptation during the past 2000 years

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Recommendations for the integration of genomics into clinical practice

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Personal Genome Sequencing in Ostensibly Healthy Individuals and the PeopleSeq Consortium

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Exome sequencing in dementia with Lewy bodies

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Whole-genome sequencing of quartet families with autism spectrum disorder

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

De novo CNVs in bipolar affective disorder and schizophrenia

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Genome sequencing identifies major causes of severe intellectual disability

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

The genome clinic: a multidisciplinary approach to assessing the opportunities and challenges of integrating genomic analysis into clinical care.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

The Database of Genomic Variants: a curated collection of structural variation in the human genome.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Personalized genomic disease risk of volunteers

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Transmission disequilibrium of small CNVs in simplex autism

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

The effect of CHEK2 variant I157T on cancer susceptibility: evidence from a meta-analysis

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

A discovery resource of rare copy number variations in individuals with autism spectrum disorder

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Pharmacogenomics knowledge for personalized medicine

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

The CHEK2 I157T variant and breast cancer susceptibility: a systematic review and meta-analysis.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

A public resource facilitating clinical use of genomes

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Whole genome scanning: resolving clinical diagnosis and management amidst complex data

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Dysfunction in ankyrin-B-dependent ion channel and transporter targeting causes human sinus node disease

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

From genetic privacy to open consent

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

A KCNE2 mutation in a patient with cardiac arrhythmia induced by auditory stimuli and serum electrolyte imbalance

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

X chromosome loss and ageing

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

A systematic review and meta-analysis of the relationship between lipoprotein lipase Asn291Ser variant and diseases

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

AN ESTIMATE OF THE MUTATIONAL DAMAGE IN MAN FROM DATA ON CONSANGUINEOUS MARRIAGES

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

The human genome project will not replace the physician

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

A cardiac arrhythmia syndrome caused by loss of ankyrin-B function

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Mutations in NHLRC1 cause progressive myoclonus epilepsy

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

DNA sequencing at 40: past, present and future.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

The whole-genome landscape of medulloblastoma subtypes

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

AstraZeneca launches project to sequence 2 million genomes.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

The importance of E-cadherin binding partners to evaluate the pathogenicity of E-cadherin missense mutations associated to HDGC.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Point: Are we prepared for the future doctor visit?

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

A novel splice-site variant of the base excision repair gene MYH is associated with production of an aberrant mRNA transcript encoding a truncated MYH protein not localized in the nucleus.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

SLC7A9 mutations in all three cystinuria subtypes

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798982

A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia

30 November 2018

1 reference

12 December 2020

Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene

1 reference

12 December 2020

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing

1 reference

12 December 2020

[SLC7A9 gene variation: impact of 13 frequent mutations in the etiology of cystinuria in a Spanish Mediterranean population]

1 reference

12 December 2020

1 reference

12 December 2020

Finding the right balance between precision medicine and personalized care

1 reference

12 December 2020

Identifiers

DOI

10.1503/CMAJ.171151

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29431110%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

1 reference