(Q28610742)

26

0 references

Stephan Züchner

36

0 references

Peter Robinson

29

Peter N Robinson

0 references

Melissa Haendel

18

Melissa A Haendel

0 references

Sergi Beltran

Sergi Beltran

3

0 references

Peter E Taschner

Peter E Taschner

33

0 references

Ingrid A Holm

Ingrid A Holm

20

0 references

Catherine A. Brownstein

Catherine A Brownstein

5

0 references

Heidi L. Rehm

Heidi L Rehm

38

0 references

Stephanie O. M. Dyke

12

Stephanie O M Dyke

0 references

Ada Hamosh

19

Ada Hamosh

0 references

Kym M Boycott

37

Kym M Boycott

0 references

Benedict Paten

28

Benedict Paten

0 references

Michael Brudno

6

Michael Brudno

0 references

Sharon F. Terry

34

Sharon F Terry

0 references

Helen V. Firth

14

Helen V Firth

0 references

Anthony J Brookes

4

Anthony J Brookes

0 references

Han G. Brunner

7

Han G Brunner

0 references

Nicole L Washington

35

Nicole L Washington

0 references

Orion J Buske

8

Orion J Buske

0 references

Sergiu Dumitriu

11

Sergiu Dumitriu

0 references

Matthew Hurles

22

Matthew E Hurles

0 references

Richard A Gibbs

15

Richard A Gibbs

0 references

author name string

Anthony A Philippakis

1

0 references

Danielle R Azzariti

2

0 references

Knox Carey

9

0 references

Cassie Doll

10

0 references

Johan T den Dunnen

13

0 references

Marta Girdea

16

0 references

Michael Gonzalez

17

0 references

Lijia Huang

21

0 references

Ben Hutton

23

0 references

Joel B Krier

24

0 references

Andriy Misyura

25

0 references

Justin Paschall

27

0 references

François Schiettecatte

30

0 references

Nara L Sobreira

31

0 references

Ganesh J Swaminathan

The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles

32

0 references

language of work or name

English

0 references

publication date

October 2015

0 references

published in

Human Mutation

0 references

volume

36

0 references

issue

10

0 references

page(s)

915-21

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610002

Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610002

GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610002

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610002

The Cancer Genome Atlas Pan-Cancer analysis project

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610002

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610002

Linking human diseases to animal models using ontology-based phenotype annotation

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610002

Genetic mapping in human disease

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610002

Mitigating false-positive associations in rare disease gene discovery

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610002

Use of model organism and disease databases to support matchmaking for human disease gene discovery

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610002

Participant-driven matchmaking in the genomic era.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610002

PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610002

The genomic birthday paradox: how much is enough?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610002

Cafe Variome: general-purpose software for making genotype-phenotype data discoverable in restricted or open access contexts

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610002

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610002

Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610002

Data sharing in the undiagnosed diseases network

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610002

Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610002

GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610002

Innovative genomic collaboration using the GENESIS (GEM.app) platform

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610002

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610002

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610002

Whole Genome Sequencing and a New Bioinformatics Platform Allow for Rapid Gene Identification in D. melanogaster EMS Screens

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610002

International Cancer Genome Consortium Data Portal--a one-stop shop for cancer genomics data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610002

PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610002

GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610002

3 June 2018

Identifiers

DOI

10.1002/HUMU.22858

1 reference

1 reference

1 reference

PubMed publication ID

26295439

1 reference