(Q33426287)

26 July 2017

CATCHing putative causative variants in consanguineous families (English)

1 reference

26 July 2017

Stilianos Antonarakis

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26415661%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Federico A Santoni

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26415661%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Periklis Makrythanasis

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26415661%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

author name string

Federico Andrea Santoni

1

1 reference

PubMed ID

26415661

26 July 2017

Periklis Makrythanasis

2

1 reference

26 July 2017

28 September 2015

1 reference

26 July 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26415661%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

volume

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26415661%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

page(s)

310

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26415661%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1186/s12859-015-0727-5

3 June 2020

exact match

0 references

cites work

Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4587650

A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4587650

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4587650

Long runs of homozygosity are enriched for deleterious variation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4587650

Autozygosity mapping with exome sequence data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4587650

Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4587650

MutationTaster evaluates disease-causing potential of sequence alterations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4587650

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4587650

A method and server for predicting damaging missense mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4587650

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4587650

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4587650

The Sequence Alignment/Map format and SAMtools

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4587650

Fast and accurate short read alignment with Burrows-Wheeler transform

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4587650

Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4587650

Human haplotype block sizes are negatively correlated with recombination rates

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4587650

Fibroblast growth factor receptor 3 is a negative regulator of bone growth

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4587650

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report.

21 June 2018

1 reference

https://api.crossref.org/works/10.1186%2FS12859-015-0727-5

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS12859-015-0727-5

A new familial sclerosing bone dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS12859-015-0727-5

Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS12859-015-0727-5

10.1186/S12859-015-0727-5

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26415661%20AND%20SRC:MED&resulttype=core&format=json

journals/bmcbi/SantoniMA15

3 June 2020

DBLP publication ID

1 reference

DBLP Dataset 2021-01-02

Dimensions Publication ID

28 January 2021

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26415661%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26415661%20AND%20SRC:MED&resulttype=core&format=json