(Q24612653)

29 November 2023

29

Henry T Greely

Henry T

Greely

1 reference

29 November 2023

2

Atul J Butte

Atul J

Butte

1 reference

29 November 2023

31

Russ B Altman

Russ B

Altman

1 reference

29 November 2023

30

Stephen R Quake

Stephen R

Quake

1 reference

29 November 2023

Matthew T Wheeler

3

Matthew T

Wheeler

2 references

ORCID Public Data File 2021

29 November 2023

13

Louanne Hudgins

Louanne

Hudgins

1 reference

29 November 2023

20

Mark Woon

Mark

Woon

1 reference

29 November 2023

18

Katrin Sangkuhl

Katrin

Sangkuhl

1 reference

29 November 2023

25

Joseph V Thakuria

Joseph V

Thakuria

1 reference

29 November 2023

5

Teri E Klein

Teri E

Klein

1 reference

29 November 2023

21

Hersh Sagreiya

Hersh

Sagreiya

1 reference

29 November 2023

Euan A Ashley

1

Euan A

Ashley

1 reference

29 November 2023

Rong Chen

4

Rong

Chen

1 reference

29 November 2023

Frederick E Dewey

6

Frederick E

Dewey

1 reference

29 November 2023

Joel T Dudley

7

Joel T

Dudley

1 reference

29 November 2023

Kelly E Ormond

8

Kelly E

Ormond

1 reference

29 November 2023

Aleksandra Pavlovic

9

Aleksandra

Pavlovic

1 reference

29 November 2023

Alexander A Morgan

10

Alexander A

Morgan

1 reference

29 November 2023

Dmitry Pushkarev

11

Dmitry

Pushkarev

1 reference

29 November 2023

Norma F Neff

12

Norma F

Neff

1 reference

29 November 2023

Li Gong

14

Li

Gong

1 reference

29 November 2023

Laura M Hodges

15

Laura M

Hodges

1 reference

29 November 2023

Dorit S Berlin

16

Dorit S

Berlin

1 reference

29 November 2023

Caroline F Thorn

17

Caroline F

Thorn

1 reference

29 November 2023

Joan M Hebert

19

Joan M

Hebert

1 reference

29 November 2023

Ryan Whaley

22

Ryan

Whaley

1 reference

29 November 2023

Joshua W Knowles

23

Joshua W

Knowles

1 reference

29 November 2023

Michael F Chou

24

Michael F

Chou

1 reference

29 November 2023

Abraham M Rosenbaum

26

Abraham M

Rosenbaum

1 reference

29 November 2023

Alexander Wait Zaranek

27

Alexander Wait

Zaranek

1 reference

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

29 November 2023

language of work or name

English

0 references

publication date

1 May 2010

0 references

published in

The Lancet

0 references

volume

375

0 references

issue

9725

0 references

page(s)

1525-35

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

Targeted capture and massively parallel sequencing of 12 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=2937184

Massively parallel sequencing: the next big thing in genetic medicine

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

Interpretation of genetic association studies: markers with replicated highly significant odds ratios may be poor classifiers

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

The diploid genome sequence of an individual human

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

The complete genome of an individual by massively parallel DNA sequencing

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

Polymorphism in the apolipoprotein(a) gene, plasma lipoprotein(a), cardiovascular disease, and low-dose aspirin therapy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

Iron-overload-related disease in HFE hereditary hemochromatosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

Mutations in BTD causing biotinidase deficiency

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

Integrating genotype and phenotype information: an overview of the PharmGKB project. Pharmacogenetics Research Network and Knowledge Base

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

SIFT: Predicting amino acid changes that affect protein function

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

Human non-synonymous SNPs: server and survey

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

The Universal Protein Resource (UniProt) 2009

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

Implications of recent clinical trials for the National Cholesterol Education Program Adult Treatment Panel III guidelines

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

Association of cytochrome P450 2C19 genotype with the antiplatelet effect and clinical efficacy of clopidogrel therapy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

Single-molecule sequencing of an individual human genome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

A highly annotated whole-genome sequence of a Korean individual

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

Large-scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

Estimation of the warfarin dose with clinical and pharmacogenetic data

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

CYP4F2 genetic variant alters required warfarin dose

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

PolyDoms: a whole genome database for the identification of non-synonymous coding SNPs with the potential to impact disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

Somatic and Germ-Line Mutations of theHRPT2Gene in Sporadic Parathyroid Carcinoma

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

The Human Gene Mutation Database: 2008 update

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

Polymorphisms associated with cholesterol and risk of cardiovascular events

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

A Polymorphism in the Protease-Like Domain of Apolipoprotein(a) Is Associated With Severe Coronary Artery Disease

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

Mitochondrial genome single nucleotide polymorphisms and their phenotypes in the Japanese.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937184

Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations

28 November 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2810%2960452-7

7 January 2021

Association between XV2c/CS7/KM19/D9 haplotypes and the delta F508 mutation. A study of 57 Belgian families

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2810%2960452-7

7 January 2021

Polymorphisms of OATP-C (SLC21A6) and OAT3 (SLC22A8) genes: consequences for pravastatin pharmacokinetics

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2810%2960452-7

7 January 2021

Influence of drug transporter polymorphisms on pravastatin pharmacokinetics in humans

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2810%2960452-7

7 January 2021

SLCO1B1 variants and statin-induced myopathy--a genomewide study

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2810%2960452-7

7 January 2021

Cytochrome p-450 polymorphisms and response to clopidogrel

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2810%2960452-7

7 January 2021

A novel functional VKORC1 promoter polymorphism is associated with inter-individual and inter-ethnic differences in warfarin sensitivity.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2810%2960452-7

7 January 2021

Pharmacogenetic relevance of CYP4F2 V433M polymorphism on acenocoumarol therapy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2810%2960452-7

7 January 2021

beta-adrenergic receptor gene polymorphisms and beta-blocker treatment outcomes in hypertension

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2810%2960452-7

7 January 2021

Beta 1-adrenergic receptor polymorphisms and antihypertensive response to metoprolol

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2810%2960452-7

7 January 2021

Association between a frequent allele of the gene encoding OATP1B1 and enhanced LDL-lowering response to fluvastatin therapy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2810%2960452-7

7 January 2021

Beta2-adrenergic receptor genotype and survival among patients receiving beta-blocker therapy after an acute coronary syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2810%2960452-7

7 January 2021

Beta-adrenoceptor genotype influences the response to carvedilol in patients with congestive heart failure

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2810%2960452-7

7 January 2021

Impact of the CYP2D6 genotype on the clinical effects of metoprolol: a prospective longitudinal study

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2810%2960452-7

7 January 2021

Extension of type 2 diabetes genome-wide association scan results in the diabetes prevention program

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2810%2960452-7

7 January 2021

Pentanucleotide repeat polymorphism, lipoprotein(a) levels, and risk of ischemic heart disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2810%2960452-7

7 January 2021

Insertion/deletion polymorphism in the BRCA2 nuclear localization signal

1 reference

https://pubmed.ncbi.nlm.nih.gov/20435227

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/S0140-6736(10)60452-7

1 reference

1 reference

1 reference

1 reference