(Q37138649)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23685542%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

title

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23685542%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

2

1 reference

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1 March 2020

Philip M. Boone

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23685542%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Chad Shaw

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23685542%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

14

James R Lupski

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23685542%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

12

Pawel Stankiewicz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23685542%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

10

Seema R Lalani

1 reference

1 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23685542%20AND%20SRC:MED&resulttype=core&format=json

3

Brett C Baggett

1 reference

1 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23685542%20AND%20SRC:MED&resulttype=core&format=json

9

Sau Wai Cheung

1 reference

1 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23685542%20AND%20SRC:MED&resulttype=core&format=json

Zachry T Soens

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23685542%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Mitchell M Rao

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23685542%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Patricia M Hixson

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23685542%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Ankita Patel

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23685542%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Weimin Bi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23685542%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Arthur L Beaudet

11

1 reference

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1 March 2020

publication date

16 May 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23685542%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23685542%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23685542%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23685542%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

page(s)

1383-1394

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23685542%20AND%20SRC:MED&resulttype=core&format=json

Diagnostic interpretation of array data using public databases and internet sources

1 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

An integrated map of genetic variation from 1,092 human genomes

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

An informatics approach to analyzing the incidentalome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

Incidental copy-number variants identified by routine genome testing in a clinical population

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

Human genome sequencing in health and disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

Genome-wide mapping of copy number variation in humans: comparative analysis of high resolution array platforms

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

The impact of single gene and chromosomal disorders on hospital admissions in an adult population

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

Clan genomics and the complex architecture of human disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

The functional spectrum of low-frequency coding variation

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

Whole-genome sequencing for optimized patient management

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

Mapping copy number variation by population-scale genome sequencing

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

Carrier testing for severe childhood recessive diseases by next-generation sequencing

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

Detection of clinically relevant exonic copy-number changes by array CGH.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

Towards a comprehensive structural variation map of an individual human genome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

Clinical assessment incorporating a personal genome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

Origins and functional impact of copy number variation in the human genome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

The complete genome of an individual by massively parallel DNA sequencing

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

Insights into extensive deletions around the XK locus associated with McLeod phenotype and characterization of two novel cases

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

AN ESTIMATE OF THE MUTATIONAL DAMAGE IN MAN FROM DATA ON CONSANGUINEOUS MARRIAGES

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

14 September 2017

Our load of mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

The mutational load due to detrimental genes in man

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

Prevalence and patterns of presentation of genetic disorders in a pediatric emergency department

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

Molecular genetics of inherited variation in human color vision

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

Infection of human B cells with Epstein-Barr virus results in the expression of somatic hypermutation-inducing molecules and in the accrual of oncogene mutations

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

The burden of genetic disease on inpatient care in a children's hospital

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

Characterization of the large deletion in the GALC gene found in patients with Krabbe disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

The impact of single gene and chromosomal disorders on hospital admissions of children and adolescents: a population-based study.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759716

Introductory comments on special section-genomic microduplications: When adding may equal subtracting

3 September 2018

1 reference

12 December 2020

A universal carrier test for the long tail of Mendelian disease

1 reference

12 December 2020

Digenic inheritance and Mendelian disease

1 reference

12 December 2020

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

1 reference

12 December 2020

Identifiers

DOI

10.1101/GR.156075.113

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23685542%20AND%20SRC:MED&resulttype=core&format=json

release_42onwbai5ze7fcdh6o6pva3jwe

1 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/42onwbai5ze7fcdh6o6pva3jwe

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23685542%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23685542%20AND%20SRC:MED&resulttype=core&format=json