(Q30487635)

English

New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene (English)

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

5

object named as

Ada Hamosh

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

author name string

Nara Sobreira

1

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

François Schiettecatte

2

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Corinne Boehm

3

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

David Valle

4

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

publication date

1 April 2015

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

36

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

4

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

425-431

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820250

20 June 2018

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820250

20 June 2018

Clinical exome sequencing for genetic identification of rare Mendelian disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820250

20 June 2018

Molecular findings among patients referred for clinical whole-exome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820250

20 June 2018

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820250

20 June 2018

A general framework for estimating the relative pathogenicity of human genetic variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820250

20 June 2018

Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820250

20 June 2018

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820250

20 June 2018

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820250

20 June 2018

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820250

20 June 2018

Genic intolerance to functional variation and the interpretation of personal genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820250

20 June 2018

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820250

20 June 2018

PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820250

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820250

20 June 2018

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820250

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820250

20 June 2018

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820250

20 June 2018

Exome sequencing identifies the cause of a mendelian disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4820250

20 June 2018

Cytogenomic delineation and clinical follow-up of two siblings with an 8.5 Mb 6q24.2-q25.2 deletion inherited from a paternal insertion.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22769

21 January 2018

An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22769

21 January 2018

Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/25684268

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomics in clinical practice: lessons from the front lines

1 reference

https://pubmed.ncbi.nlm.nih.gov/25684268

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/HUMU.22769

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

release_nq7clwg3cbak3hdlb3xdgd7ypa

1 reference

https://api.fatcat.wiki/v0/release/nq7clwg3cbak3hdlb3xdgd7ypa

24 November 2022

based on heuristic

mapped directly with Wikidata item

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

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