(Q36064361)

11 August 2017

VarElect: the phenotype-based variation prioritizer of the GeneCards Suite (English)

1 reference

11 August 2017

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21

Doron Lancet

1 reference

11 August 2017

17

Tsippi Iny Stein

1 reference

11 August 2017

2

Inbar Plaschkes

1 reference

11 August 2017

10

Ron Nudel

1 reference

11 August 2017

20

Marilyn Safran

1 reference

11 August 2017

9

Simon Fishilevich

1 reference

11 August 2017

Gil Stelzer

1

1 reference

11 August 2017

Danit Oz-Levi

3

1 reference

11 August 2017

Anna Alkelai

4

1 reference

11 August 2017

Tsviya Olender

5

1 reference

11 August 2017

Shahar Zimmerman

6

1 reference

11 August 2017

Michal Twik

7

1 reference

11 August 2017

Frida Belinky

8

1 reference

11 August 2017

Yaron Guan-Golan

11

1 reference

11 August 2017

David Warshawsky

12

1 reference

11 August 2017

Dvir Dahary

13

1 reference

11 August 2017

Asher Kohn

14

1 reference

11 August 2017

Yaron Mazor

15

1 reference

11 August 2017

Sergey Kaplan

16

1 reference

11 August 2017

Hagit N Baris

18

1 reference

11 August 2017

Noa Rappaport

19

1 reference

11 August 2017

language of work or name

English

0 references

publication date

23 June 2016

1 reference

11 August 2017

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11 August 2017

17 Suppl 2

1 reference

11 August 2017

444

1 reference

Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

Phenolyzer: phenotype-based prioritization of candidate genes for human diseases

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

Better prediction of functional effects for sequence variants

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

Semantic retrieval and navigation in clinical document collections.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

COSMIC: exploring the world's knowledge of somatic mutations in human cancer

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

Genome sequencing identifies major causes of severe intellectual disability

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

ClinVar: public archive of relationships among sequence variation and human phenotype

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

Improved exome prioritization of disease genes through cross-species phenotype comparison

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

LifeMap Discovery™: the embryonic development, stem cells, and regenerative medicine research portal

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

VAAST 2.0: improved variant classification and disease-gene identification using a conservation-controlled amino acid substitution matrix

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

MalaCards: an integrated compendium for diseases and their annotation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

Population-based rare variant detection via pooled exome or custom hybridization capture with or without individual indexing

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

SIFT web server: predicting effects of amino acid substitutions on proteins

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

In-silico human genomics with GeneCards

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

GeneCards Version 3: the human gene integrator

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

A method and server for predicting damaging missense mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

GeneDecks: paralog hunting and gene-set distillation with GeneCards annotation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

Evidence for dynamically organized modularity in the yeast protein-protein interaction network

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

GeneCards: integrating information about genes, proteins and diseases.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

PathCards: multi-source consolidation of human biological pathways

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

Maternally inherited Leigh syndrome: an unusual cause of infantile apnea

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

MalaCards: A Comprehensive Automatically-Mined Database of Human Diseases.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

Neurologic involvement in a child with systemic capillary leak syndrome

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4928145

Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome

23 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27357693

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S12864-016-2722-2

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

27357693

1 reference