(Q34299625)

English

An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals

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scholarly article

1 reference

Europe PubMed Central

1 August 2017

An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals (English)

1 reference

Europe PubMed Central

1 August 2017

author name string

Gabriel A Lazarin

1

1 reference

Europe PubMed Central

1 August 2017

Imran S Haque

2

1 reference

Europe PubMed Central

1 August 2017

Shivani Nazareth

3

1 reference

Europe PubMed Central

1 August 2017

Kevin Iori

4

1 reference

Europe PubMed Central

1 August 2017

A Scott Patterson

5

1 reference

Europe PubMed Central

1 August 2017

Jessica L Jacobson

6

1 reference

Europe PubMed Central

1 August 2017

John R Marshall

7

1 reference

Europe PubMed Central

1 August 2017

William K Seltzer

8

1 reference

Europe PubMed Central

1 August 2017

Pasquale Patrizio

9

1 reference

Europe PubMed Central

1 August 2017

Eric A Evans

10

1 reference

Europe PubMed Central

1 August 2017

Balaji S Srinivasan

11

1 reference

Europe PubMed Central

1 August 2017

language of work or name

0 references

publication date

13 September 2012

1 reference

Europe PubMed Central

1 August 2017

Genetics in Medicine

1 reference

Europe PubMed Central

1 August 2017

15

1 reference

Europe PubMed Central

1 August 2017

178-186

1 reference

Europe PubMed Central

1 August 2017

3

1 reference

Europe PubMed Central

1 August 2017

https://scigraph.springernature.com/pub.10.1038/gim.2012.114

0 references

No association for Chinese HBV-related hepatocellular carcinoma susceptibility SNP in other East Asian populations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908551

6 July 2018

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908551

6 July 2018

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908551

6 July 2018

ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908551

6 July 2018

Views on personalized medicine: do the attitudes of African American and white prescription drug consumers differ?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908551

6 July 2018

Genetic testing of sperm donors: survey of current practices

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908551

6 July 2018

Carrier screening for spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908551

6 July 2018

The ethics of characterizing difference: guiding principles on using racial categories in human genetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908551

6 July 2018

Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908551

6 July 2018

Carrier screening in individuals of Ashkenazi Jewish descent

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908551

6 July 2018

ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908551

6 July 2018

ACOG Committee Opinion. Number 325, December 2005. Update on carrier screening for cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908551

6 July 2018

The prevalence and clinical characteristics of cystic fibrosis in South Asian Canadian immigrants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908551

6 July 2018

Attitudinal barriers to delivery of race-targeted pharmacogenomics among informed lay persons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908551

6 July 2018

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908551

6 July 2018

The Smith-Lemli-Opitz syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908551

6 July 2018

Estimating African American admixture proportions by use of population-specific alleles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908551

6 July 2018

Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908551

6 July 2018

ACOG committee opinion No. 432: spinal muscular atrophy.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.114

21 January 2018

Cost-effectiveness analysis of prenatal population-based fragile X carrier screening

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.114

21 January 2018

Cystic fibrosis carrier testing in an ethnically diverse US population.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.114

21 January 2018

A universal carrier test for the long tail of Mendelian disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/22975760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Serendipitous diagnosis of mild recessive multiple epiphyseal dysplasia through parental-targeted screening test

1 reference

https://pubmed.ncbi.nlm.nih.gov/22975760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients?

1 reference

https://pubmed.ncbi.nlm.nih.gov/22975760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Is cystic fibrosis carrier screening cost effective?

1 reference

https://pubmed.ncbi.nlm.nih.gov/22975760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/GIM.2012.114

1 reference

Europe PubMed Central

1 August 2017

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1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

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