(Q35648444)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22219648%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

Exome capture sequencing identifies a novel mutation in BBS4 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22219648%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1

Hui Wang

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22219648%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

11

James R Lupski

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22219648%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

13

Richard A Gibbs

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22219648%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

4

Claire Patenia

1 reference

19 January 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22219648%20AND%20SRC:MED&resulttype=core&format=json

9

Ali A Al-Rajhi

1 reference

19 January 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22219648%20AND%20SRC:MED&resulttype=core&format=json

Xianfeng Chen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22219648%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Lynn Dudinsky

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22219648%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Yiyun Chen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22219648%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Yumei Li

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22219648%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Yue Wei

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22219648%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Emad B Abboud

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22219648%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Richard Alan Lewis

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22219648%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Graeme Mardon

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22219648%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Brian D Perkins

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22219648%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Rui Chen

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22219648%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

publication date

30 December 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22219648%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22219648%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

volume

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22219648%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

page(s)

3529-3540

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22219648%20AND%20SRC:MED&resulttype=core&format=json

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

19 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Exome sequencing: the sweet spot before whole genomes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Self-complementary AAV-mediated gene therapy restores cone function and prevents cone degeneration in two models of Rpe65 deficiency.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Exome sequencing identifies the cause of a mendelian disorder

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

The Sequence Alignment/Map format and SAMtools

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Hybrid selection of discrete genomic intervals on custom-designed microarrays for massively parallel sequencing

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Fast and accurate short read alignment with Burrows-Wheeler transform

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Next-generation DNA sequencing techniques

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Next-generation DNA sequencing

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Leber congenital amaurosis: genes, proteins and disease mechanisms

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Safety and efficacy of gene transfer for Leber's congenital amaurosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

The impact of next-generation sequencing technology on genetics

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Molecular genetics of Leber congenital amaurosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Differential induction of four msx homeobox genes during fin development and regeneration in zebrafish

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Whole human exome capture for high-throughput sequencing

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Next-generation DNA sequencing methods

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Bardet-Biedl syndrome: beyond the cilium.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

15 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3250376

Mutational analysis and clinical correlation in Leber congenital amaurosis

15 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22219648

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Whole-mount in situ hybridizations on zebrafish embryos using a mixture of digoxigenin- and fluorescein-labelled probes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22219648

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

[Diagnostic and prognostic importance of the electroretinogram in tapetoretinal degeneration with reduction of the visual field and hemeralopia]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22219648

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22219648%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

PubMed publication ID

22219648

1 reference