Is gene discovery research or diagnosis? (Q38442473)

3 September 2017

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Is gene discovery research or diagnosis? (English)

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3 September 2017

Mark E Samuels

1

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3 September 2017

Andrew Orr

2

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3 September 2017

Duane L Guernsey

3

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3 September 2017

Kent Dooley

4

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3 September 2017

Christie Riddell

5

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3 September 2017

Kathy Hodgkinson

6

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3 September 2017

Mark Ludman

7

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3 September 2017

Daryl Pullman

8

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3 September 2017

language of work or name

English

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publication date

1 June 2008

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3 September 2017

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3 September 2017

10

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3 September 2017

6

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3 September 2017

385-390

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https://scigraph.springernature.com/pub.10.1097/gim.0b013e3181770172

3 September 2017

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cites work

Permission to publish case reports/case series.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Classification of BRCA1 missense variants of unknown clinical significance

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Detection of an unexpected subtelomeric 15q26.2 --> qter deletion in a little girl: clinical and cytogenetic studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

A case of 3q29 microdeletion with novel features and a review of cytogenetically visible terminal 3q deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

LC-MS/MS determination of dibasic amino acids for the diagnosis of cystinuria. Application in a family affected by a novel splice-acceptor site mutation in the SLC7A9 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Ethical review of research into rare genetic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Population history and its impact on medical genetics in Quebec

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Molecular genetics of the Finnish disease heritage.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

The impact of implantable cardioverter-defibrillator therapy on survival in autosomal-dominant arrhythmogenic right ventricular cardiomyopathy (ARVD5)

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Structural variants: changing the landscape of chromosomes and design of disease studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Global variation in copy number in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Array-based comparative genomic hybridization: clinical contexts for targeted and whole-genome designs

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Use of array-based technology in the practice of medical genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Distinguishing protein-coding and noncoding genes in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Mendelian disorders deserve more attention

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

The International HapMap Project

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

New perspectives for the elucidation of genetic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Ethical implications of array comparative genomic hybridization in complex phenotypes: points to consider in research

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Monogenic traits are not simple: lessons from phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Newborn screening: toward a uniform screening panel and system--executive summary

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Cost-benefit analysis of universal tandem mass spectrometry for newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

The diploid genome sequence of an individual human

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

The complete genome of an individual by massively parallel DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Whole-genome re-sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Anticipating the 1,000 dollar genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Research ethics and the challenge of whole-genome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Ethics review roulette: what can we learn?

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Ethical approval for research involving geographically dispersed subjects: unsuitability of the UK MREC/LREC system and relevance to uncommon genetic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Economic evaluation of tandem mass spectrometry screening in California.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Deleción subtelomérica 9qter: definición del síndrome y origen parental en 2 pacientes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

Use of isolated inbred human populations for identification of disease genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181770172

10.1097/GIM.0B013E3181770172

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

3 September 2017

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1 reference