(Q30936993)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25893794%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

title

Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data (English)

1 reference

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6 March 2020

1

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6 March 2020

Robert D. Steiner

9

1 reference

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6 March 2020

author name string

Andrea DeBarber

2

1 reference

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6 March 2020

Max He

3

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6 March 2020

Zhan Ye

4

1 reference

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6 March 2020

Peggy Peissig

5

1 reference

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6 March 2020

Jeffrey J Van Wormer

6

1 reference

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6 March 2020

Robert Haws

7

1 reference

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6 March 2020

Murray H Brilliant

8

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6 March 2020

publication date

19 April 2015

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6 March 2020

1 reference

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6 March 2020

volume

134

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6 March 2020

issue

6

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6 March 2020

page(s)

659-669

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Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.

6 March 2020

cites work

1 reference

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Detecting rare variant associations by identity-by-descent mapping in case-control studies

21 January 2018

1 reference

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A population-based study of autosomal-recessive disease-causing mutations in a founder population

21 January 2018

1 reference

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Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

21 January 2018

1 reference

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Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis

21 January 2018

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Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

21 January 2018

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Mendelian proportions in a mixed population

21 January 2018

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Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization

21 January 2018

1 reference

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Estimation of Wilson's disease incidence and carrier frequency in the Korean population by screening ATP7B major mutations in newborn filter papers using the SYBR green intercalator method based on the amplification refractory mutation system

21 January 2018

1 reference

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An evolutionary framework for association testing in resequencing studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1551-8

A comparison of approaches to estimate the inbreeding coefficient and pairwise relatedness using genomic and pedigree data in a sheep population

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1551-8

Spinal muscular atrophy carrier frequency and estimated prevalence of the disease in Moroccan newborns

21 January 2018

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

21 January 2018

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Guidelines for investigating causality of sequence variants in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1551-8

Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1551-8

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

21 January 2018

1 reference

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21 January 2018

1 reference

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The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1551-8

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

21 January 2018

1 reference

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Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1551-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1551-8

Properties and modeling of GWAS when complex disease risk is due to non-complementing, deleterious mutations in genes of large effect.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1551-8

Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1551-8

The Differential Equation of the Distribution of Gene Frequencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1551-8

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1551-8

TRAP1 rescues PINK1 loss-of-function phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1551-8

THE NUMBER OF ALLELES THAT CAN BE MAINTAINED IN A FINITE POPULATION

21 January 2018

1 reference

12 December 2020

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

1 reference

12 December 2020

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

1 reference

12 December 2020

EVOLUTION IN MENDELIAN POPULATIONS

1 reference

12 December 2020

The age of a neutral mutant persisting in a finite population

1 reference

12 December 2020

Genome-wide search for asthma susceptibility loci in a founder population. The Collaborative Study on the Genetics of Asthma

1 reference

12 December 2020

Systems of Mating. I. the Biometric Relations between Parent and Offspring

1 reference

12 December 2020

10.1007/S00439-015-1551-8

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25893794%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

6 March 2020

1044751890

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25893794%20AND%20SRC:MED&resulttype=core&format=json