(Q34388472)

1 August 2017

title

1998 ASHG presidential address. Making genomic medicine a reality (English)

1 reference

1 August 2017

Beaudet AL

1

1 reference

1 August 2017

language of work or name

English

0 references

publication date

1 January 1999

1 reference

American Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

64

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1 August 2017

issue

1

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1 August 2017

page(s)

1-13

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A physical map of 30,000 human genes

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377695

Panel urges caution on genetic testing for mental disorders.

6 July 2018

1 reference

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Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377695

Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung 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=1377695

Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377695

DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase 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=1377695

Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterization

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377695

Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377695

Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377695

Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377695

Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377695

DNA chips: analysing sequence by hybridization to oligonucleotides on a large scale

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377695

Practice guideline development task force of the College of American Pathologists. Hereditary hemochromatosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377695

The future of genetic studies of complex human 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=1377695

Molecular basis of polymorphic drug metabolism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377695

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377695

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg 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=1377695

Molecular genetics of human blood pressure variation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377695

Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377695

Natural History and Life Expectancy in Severe Alpha1-Antitrypsin Deficiency, Pi Z

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377695

On Being an Individual, or: The Man in the Red Hat

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377695

Hereditary hemochromatosis: gene discovery and its implications for population-based 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=1377695

Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377695

Mitochondrial gene mutation is a significant predisposing factor in aminoglycoside ototoxicity.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377695

Clinical features and lung function in 18-year-old adolescents with alpha 1-antitrypsin deficiency

27 October 2018

1 reference

12 December 2020

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease

1 reference

12 December 2020

Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men

1 reference

12 December 2020

Heart attacks: gone with the century?

1 reference

12 December 2020

The new genomics: global views of biology

1 reference

12 December 2020

Cancer risk associated with germline DNA mismatch repair gene mutations

1 reference

12 December 2020

Variations on a theme: cataloging human DNA sequence variation

1 reference

12 December 2020

Identifiers

DOI

10.1086/302217

1 reference

1 August 2017

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1 August 2017

1 reference