(Q34345162)

1 August 2017

title

Molecular genetic testing and the future of clinical genomics (English)

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1 August 2017

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Nicholas Katsanis

2

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Sara H Katsanis

object named as

Sara Huston Katsanis

series ordinal

1

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publication date

1 June 2013

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1 August 2017

published in

Nature Reviews Genetics

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1 August 2017

volume

14

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1 August 2017

issue

6

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1 August 2017

page(s)

415-426

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https://scigraph.springernature.com/pub.10.1038/nrg3493

1 August 2017

exact match

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cites work

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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

6 July 2018

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6 July 2018

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Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study

6 July 2018

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Comparison of next-generation sequencing systems

6 July 2018

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A tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers

6 July 2018

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"Why do we have to learn this stuff?"--a new genetics for 21st century students

6 July 2018

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6 July 2018

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To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts.

6 July 2018

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Noninvasive whole-genome sequencing of a human fetus.

6 July 2018

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Exome sequencing and the genetic basis of complex traits

6 July 2018

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Association between health-service use and multiplex genetic testing

6 July 2018

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Clinical application of exome sequencing in undiagnosed genetic conditions

6 July 2018

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Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

6 July 2018

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Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy

6 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=4461364

The predictive capacity of personal genome sequencing

6 July 2018

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Personal omics profiling reveals dynamic molecular and medical phenotypes

6 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=4461364

Public preferences regarding the return of individual genetic research results: findings from a qualitative focus group study

6 July 2018

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Crowdsourced health research studies: an important emerging complement to clinical trials in the public health research ecosystem

6 July 2018

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The wide variation of definitions of genetic testing in international recommendations, guidelines and reports

6 July 2018

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Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network

6 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=4461364

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Survey of genetic counselors and clinical geneticists' use and attitudes toward pharmacogenetic testing.

6 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=4461364

Human genome sequencing in health and disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Evaluating Phenotypic Data Elements for Genetics and Epidemiological Research: Experiences from the eMERGE and PhenX Network Projects.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Genomic sequencing in clinical trials

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Pitfalls of merging GWAS data: lessons learned in the eMERGE network and quality control procedures to maintain high data quality

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

On the analysis of sequence data: testing for disease susceptibility loci using patterns of linkage disequilibrium

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Evaluation of genomic high-throughput sequencing data generated on Illumina HiSeq and genome analyzer systems

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Genomic risk profiling of ischemic stroke: results of an international genome-wide association meta-analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Comparison of solution-based exome capture methods for next generation sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Genomics, health care, and society

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

A comprehensive analysis of high school genetics standards: are states keeping pace with modern genetics?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Whole exome and whole genome sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Clinical validation of a genetic model to estimate the risk of developing choroidal neovascular age-related macular degeneration

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Copy number and SNP arrays in clinical diagnostics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

What can exome sequencing do for you?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Personalized medicine: progress and promise

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

A probabilistic disease-gene finder for personal genomes.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Ethical considerations for pharmacogenomic testing in pediatric clinical care and research

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Whole-genome sequencing for optimized patient management

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Comparison of three targeted enrichment strategies on the SOLiD sequencing platform

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Genome-wide detection of chromosomal rearrangements, indels, and mutations in circular chromosomes by short read sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Noonan syndrome and clinically related disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Genomic risk profiling: attitudes and use in personal and clinical care of primary care physicians who offer risk profiling.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Charting a course for genomic medicine from base pairs to bedside

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

MutaDATABASE: a centralized and standardized DNA variation database

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Prognostic impact of SNP array karyotyping in myelodysplastic syndromes and related myeloid malignancies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

A timely arrival for genomic medicine

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

The Mouse Genome Database (MGD): premier model organism resource for mammalian genomics and genetics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

MLPA for confirmation of array CGH results and determination of inheritance

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

A window into third-generation sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Massively parallel sequencing and rare disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

The characterization of twenty sequenced human genomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Evaluation of the validity and utility of genetic testing for rare diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Public and biobank participant attitudes toward genetic research participation and data sharing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Loss-of-function variants in the genomes of healthy humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

DNA patents and diagnostics: not a pretty picture

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Sharing health data for better outcomes on PatientsLikeMe

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Applications of array comparative genomic hybridization in obstetrics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Clinical assessment incorporating a personal genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Impact of gene patents and licensing practices on access to genetic testing for inherited susceptibility to cancer: comparing breast and ovarian cancers with colon cancers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

A method and server for predicting damaging missense mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Functional modules, mutational load and human genetic disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

SeqSharp: A general approach for improving cycle-sequencing that facilitates a robust one-step combined amplification and sequencing method

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

A genetic approach to stratification of risk for age-related macular degeneration

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Preimplantation genetic diagnosis for hemophilia A using indirect linkage analysis and direct genotyping approaches

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Sequencing technologies - the next generation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Exome sequencing identifies the cause of a mendelian disorder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Connecting and sharing on the Web. At 'crowd-sourced' disease sites, patients can swap stories-and data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Consent for use of personal information for health research: do people with potentially stigmatizing health conditions and the general public differ in their opinions?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

The futility of genomic counseling: essential role of electronic health records

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Using the internet for health-related activities: findings from a national probability sample.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Public expectations for return of results from large-cohort genetic research

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

New applications and developments in the use of multiplex ligation-dependent probe amplification

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

The potential and challenges of nanopore sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

From genetic privacy to open consent

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

C. elegans as a model organism for in vivo screening in cancer: effects of human c-Met in lung cancer affect C. elegans vulva phenotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

The mouse ascending: perspectives for human-disease models

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Attitudes towards predictive genetic testing in minors for familial breast cancer: a systematic review

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Establishing the essential nursing competencies for genetics and genomics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

The Zebrafish Information Network: the zebrafish model organism database

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Preimplantation genetic diagnosis and screening

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Complement factor H polymorphism in age-related macular degeneration

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Complement factor H polymorphism and age-related macular degeneration

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Complement factor H variant increases the risk of age-related macular degeneration

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Sequencing of genomic DNA by combined amplification and cycle sequencing reaction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

ESEfinder: A web resource to identify exonic splicing enhancers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Beyond Mendel: an evolving view of human genetic disease transmission

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Is there a case in favour of predictive genetic testing in young children?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Wrestling with the future: should we test children for adult-onset genetic conditions?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

The genetic testing of children. Working Party of the Clinical Genetics Society (UK)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Advances in prenatal screening: the ethical dimension.

6 July 2018

1 reference

Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis.

21 January 2018

1 reference

Concordance study of 3 direct-to-consumer genetic-testing services

21 January 2018

1 reference

The advent of personal genome sequencing

21 January 2018

1 reference

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

The Human Gene Mutation Database: 2008 update

21 January 2018

1 reference

Evaluation of in silico splice tools for decision-making in molecular diagnosis.

21 January 2018

1 reference

OTX2 mutations contribute to the otocephaly-dysgnathia complex.

21 January 2018

1 reference

Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms.

21 January 2018

1 reference

Genomics education for health care professionals in the 21st century.

21 January 2018

1 reference

21 January 2018

1 reference

Lingering questions and doubts: online information-seeking of support forum members following their medical visits

21 January 2018

1 reference

Evaluating patient experience in online health communities: implications for health care organizations

21 January 2018

1 reference

Subjects matter: a survey of public opinions about a large genetic cohort study.

21 January 2018

1 reference

Public perspectives on informed consent for biobanking

21 January 2018

1 reference

The general public's understanding and perception of direct-to-consumer genetic test results.

21 January 2018

1 reference

Commentary: Personalized health planning and the Patient Protection and Affordable Care Act: an opportunity for academic medicine to lead health care reform.

21 January 2018

1 reference

Parent opinions regarding the genetic testing of minors for BRCA1/2.

21 January 2018

1 reference

An international survey of predictive genetic testing in children for adult onset conditions

21 January 2018

1 reference

Lessons from predictive testing for Huntington disease: 25 years on.

21 January 2018

1 reference

Consumer awareness and attitudes about insurance discrimination post enactment of the Genetic Information Nondiscrimination Act.

21 January 2018

1 reference

Carrier testing in minors: conflicting views

21 January 2018

1 reference

Practices and policies of clinical exome sequencing providers: analysis and implications.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Medicine. Whole-genome sequencing: the new standard of care?

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Presenting evidence and summary measures to best inform societal decisions when comparing multiple strategies.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Analysis of five polymorphic DNA markers for indirect genetic diagnosis of haemophilia A in the Brazilian population

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Exome sequencing deciphers rare diseases

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Whole-Genome Sequencing: The New Standard of Care?

27 October 2018

1 reference

Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4461364

Whole-genome sequencing: a step closer to personalized medicine

27 October 2018

1 reference

Realizing genomic medicine

31 March 2020

1 reference

Is the DNA sequence the gold standard in genetic testing? Quality of molecular genetic tests assessed

31 March 2020

1 reference

Fluorescence in situ hybridization

31 March 2020

1 reference

Identifying insertion mutations by whole-genome sequencing

31 March 2020

1 reference

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

31 March 2020

1 reference

Medicine. The ultimate genetic test

31 March 2020

1 reference

Educating health-care professionals about genetics and genomics

31 March 2020

1 reference

The prospect of genome-guided preventive medicine: a need and opportunity for genetic counselors

31 March 2020

1 reference

Clinical genomic testing: getting it right

31 March 2020

1 reference

One community's effort to control genetic disease

31 March 2020

1 reference

Personal genomes: Standard and pores

31 March 2020

1 reference

Legal pressures and incentives for personalized medicine

31 March 2020

1 reference

European practices of genetic information and insurance: lessons for the Genetic Information Nondiscrimination Act

31 March 2020

1 reference

Oversight of US genetic testing laboratories

31 March 2020

1 reference

Regulating genetic tests: issues that guide policy decisions

31 March 2020

1 reference

Detection of unstable trinucleotide repeats

31 March 2020

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23681062

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NRG3493

1 reference

Dimensions Publication ID

1 August 2017

0 references

1 reference

1 August 2017

1 reference