(Q27133763)

Tom Clegg

4

0 references

Jason Bobe

Jason Bobe

9

0 references

Mad Ball

Madeleine P Ball

1

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Jeantine E Lunshof

Jeantine E Lunshof

20

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Brock A Peters

Brock A Peters

26

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Heidi L. Rehm

Heidi L Rehm

44

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George M. Church

George M Church

45

0 references

Luhan Yang

34

Luhan Yang

0 references

Christine E. Seidman

41

Christine E Seidman

0 references

Jong Bhak

8

Jong Bhak

0 references

Kimberly Robasky

29

Kimberly Robasky

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author name string

Joseph V Thakuria

2

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Alexander Wait Zaranek

3

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Abraham M Rosenbaum

5

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Xiaodi Wu

6

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Misha Angrist

7

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Matthew J Callow

10

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Carlos Cano

11

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Michael F Chou

12

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Wendy K Chung

13

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Shawn M Douglas

14

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Preston W Estep

15

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Athurva Gore

16

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Peter Hulick

17

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Je-Hyuk Lee

19

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Byung Chul Kim

21

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Jong-Il Kim

22

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Zhe Li

23

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Michael F Murray

24

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Geoffrey B Nilsen

25

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Anugraha M Raman

27

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Hugh Y Rienhoff

28

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Matthew T Wheeler

30

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Ward Vandewege

31

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Daniel B Vorhaus

32

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Joyce L Yang

33

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John Aach

35

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Euan A Ashley

36

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Radoje Drmanac

37

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Seong-Jin Kim

38

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Jin Billy Li

39

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Leonid Peshkin

40

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Jeong-Sun Seo

42

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Kun Zhang

Proceedings of the National Academy of Sciences of the United States of America

43

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language of work or name

English

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publication date

24 July 2012

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published in

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volume

109

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issue

30

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page(s)

11920-7

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cites work

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21 March 2017

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Clinical assessment incorporating a personal genome

21 March 2017

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Exome sequencing identifies the cause of a mendelian disorder

21 March 2017

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Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

21 March 2017

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Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test

21 March 2017

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From genetic privacy to open consent

21 March 2017

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21 March 2017

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Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations

21 March 2017

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dbSNP: the NCBI database of genetic variation

21 March 2017

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Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation

21 March 2017

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Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle

21 March 2017

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A method and server for predicting damaging missense mutations

21 March 2017

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Genomics and privacy: implications of the new reality of closed data for the field

21 March 2017

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Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency

21 March 2017

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Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

21 March 2017

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Functional characterization of the antibiotic resistance reservoir in the human microflora

21 March 2017

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Targeted and genome-scale strategies reveal gene-body methylation signatures in human cells

21 March 2017

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Free Factories: Unified Infrastructure for Data Intensive Web Services

21 March 2017

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

21 March 2017

1 reference

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

21 March 2017

1 reference

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Personal omics profiling reveals dynamic molecular and medical phenotypes

7 April 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

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Somatic coding mutations in human induced pluripotent stem cells

7 April 2017

1 reference

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Keeping up with genetic discoveries in amyotrophic lateral sclerosis: the ALSoD and ALSGene databases

7 April 2017

1 reference

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A probabilistic disease-gene finder for personal genomes.

28 September 2017

1 reference

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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3409785

A robust approach to identifying tissue-specific gene expression regulatory variants using personalized human induced pluripotent stem cells

28 September 2017

1 reference

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Generation of functional human hepatic endoderm from human induced pluripotent stem cells

28 September 2017

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Digital RNA allelotyping reveals tissue-specific and allele-specific gene expression in human

28 September 2017

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A highly annotated whole-genome sequence of a Korean individual

28 September 2017

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Multiplex padlock targeted sequencing reveals human hypermutable CpG variations

28 September 2017

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GeneTests: an online genetic information resource for health care providers.

28 September 2017

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The incidentalome: a threat to genomic medicine

28 September 2017

1 reference

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Collaborative text-annotation resource for disease-centered relation extraction from biomedical text

28 September 2017

1 reference

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31 May 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1201904109

A navigator for human genome epidemiology.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1201904109

Familial Hypertrophic Cardiomyopathy-linked Alterations in Ca2+ Binding of Human Cardiac Myosin Regulatory Light Chain Affect Cardiac Muscle Contraction

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1201904109

One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations [corrected] in MYH7 rod region.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1201904109

21 January 2018

Identifiers

DOI

10.1073/PNAS.1201904109

1 reference

ADS bibcode

2012PNAS..10911920B

0 references

1 reference

1 reference

PubMed publication ID

22797899

1 reference