E-LIB Suche - Ergebnisse für: Girdea, Marta

1

PhenomeCentral: 7 years of rare disease matchmaking:

Osmond, Matthew ; Hartley, Taila ; Johnstone, Brittney...
Human Mutation. , 2022

2

Care and cost consequences of pediatric whole genome sequen..:

Hayeems, Robin Z. ; Bhawra, Jasmin ; Tsiplova, Kate...
European Journal of Human Genetics. 25 (2017) 12 - p. 1303-1312 , 2017

Link: https://doi.org/10.1038/..

3

Computational evaluation of exome sequence data using human..:

Bone, William P. ; Washington, Nicole L. ; Buske, Orion J....
Genetics in Medicine. 18 (2016) 6 - p. 608-617 , 2016

Link: https://doi.org/10.1038/..

4

Whole-genome sequencing expands diagnostic utility and impr..:

Stavropoulos, Dimitri J ; Merico, Daniele ; Jobling, Rebekah...
npj Genomic Medicine. 1 (2016) 1 - p. , 2016

Link: https://doi.org/10.1038/..

5

Distributed Cognition and Process Management Enabling Indiv..:

Links, Amanda E. ; Draper, David ; Lee, Elizabeth...
Frontiers in Medicine. 3 (2016) - p. , 2016

Link: https://doi.org/10.3389/..

6

PhenomeCentral: A Portal for Phenotypic and Genotypic Match..:

Buske, Orion J. ; Girdea, Marta ; Dumitriu, Sergiu...
Human Mutation. 36 (2015) 10 - p. 931-940 , 2015

Link: https://doi.org/10.1002/..

7

The Matchmaker Exchange: A Platform for Rare Disease Gene D..:

Philippakis, Anthony A. ; Azzariti, Danielle R. ; Beltran, Sergi...
Human Mutation. 36 (2015) 10 - p. 915-921 , 2015

Link: https://doi.org/10.1002/..

8

Prioritizing Clinically Relevant Copy Number Variation from..:

Foong, Justin ; Girdea, Marta ; Stavropoulos, James..
PLOS ONE. 10 (2015) 10 - p. e0139656 , 2015

Link: https://doi.org/10.1371/..

9

The Matchmaker Exchange API: Automating Patient Matching Th..:

Buske, Orion J. ; Schiettecatte, François ; Hutton, Benjamin...
Human Mutation. 36 (2015) 10 - p. 922-927 , 2015

Link: https://doi.org/10.1002/..

10

Phenotyping: Targeting genotype's rich cousin for diagnosis:

Baynam, Gareth ; Walters, Mark ; Claes, Peter...
Journal of Paediatrics and Child Health. 51 (2014) 4 - p. 381-386 , 2014

Link: https://doi.org/10.1111/..

11

PhenoTips: Patient Phenotyping Software for Clinical and Re..:

Girdea, Marta ; Dumitriu, Sergiu ; Fiume, Marc...
Human Mutation. 34 (2013) 8 - p. 1057-1065 , 2013

Link: https://doi.org/10.1002/..

12

Getting Ready for the Human Phenome Project: The 2012 Forum..:

Oetting, William S. ; Robinson, Peter N. ; Greenblatt, Marc S....
Human Mutation. , 2013

Link: https://doi.org/10.1002/..

13

The Human Phenotype Ontology project: linking molecular bio..:

Köhler, Sebastian ; Doelken, Sandra C. ; Mungall, Christopher J....
Nucleic Acids Research. 42 (2013) D1 - p. D966-D974 , 2013

Link: https://doi.org/10.1093/..

14

Designing Efficient Spaced Seeds for SOLiD Read Mapping:

Noé, Laurent ; Gîrdea, Marta ; Kucherov, Gregory
Advances in Bioinformatics. 2010 (2010) - p. 1-12 , 2010

Link: https://doi.org/10.1155/..

15

Back-translation for discovering distant protein homologies..:

Gîrdea, Marta ; Noé, Laurent ; Kucherov, Gregory
Algorithms for Molecular Biology. 5 (2010) 1 - p. , 2010

Link: https://doi.org/10.1186/..