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Author/Creator Girdea, Marta

1. Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray. (December 2017)

Authors:
Hayeems, Robin; Bhawra, Jasmin; Tsiplova, Kate; Meyn, M.; Monfared, Nasim; Bowdin, Sarah; Stavropoulos, D.; Marshall, Christian; Basran, Raveen; Shuman, Cheryl; Ito, Shinya; Cohn, Iris; Hum, Courtney; Girdea, Marta; Brudno, Michael; Cohn, Ronald; Scherer, Stephen; Ungar, Wendy
Journal:
European journal of human genetics
Issue:
Volume 25:Number 12(2017)
Page Start:
1303
Record Type:
Journal Article
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2. Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project. Issue 4 (20th March 2013)

Authors:
Oetting, William S.; Robinson, Peter N.; Greenblatt, Marc S.; Cotton, Richard G.; Beck, Tim; Carey, John C.; Doelken, Sandra C.; Girdea, Marta; Groza, Tudor; Hamilton, Carol M.; Hamosh, Ada; Kerner, Berit; MacArthur, Jacqueline A. L.; Maglott, Donna R.; Mons, Barend; Rehm, Heidi L.; Schofield, Pa...
Journal:
Human mutation
Issue:
Volume 34:Issue 4(2013:Apr.)
Page Start:
661
Record Type:
Journal Article
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3. MG-108 Beyond the ACMG 56: Parental choices and initial results from a comprehensive whole genome sequencing-based search for predictive genomic variants in children. (4th December 2015)

Authors:
Meyn, MStephen; Monfared, Nasim; Marshall, Christian R; Merico, Daniele; Stavropoulos, Dimitri J; Hayeems, Robin Z; Szego, Michael; Jobling, Rebekah; Girdea, Marta; Bader, Gary D; Brudno, Michael; Cohn, Ronald D; Scherer, Stephen W; Shaul, Randi Zlotnik; Shuman, Cheryl; Ray, Peter N; Bowdin, Sarah
Journal:
Journal of medical genetics
Issue:
Volume 52(2015)Supplement 2
Page Start:
A3
Record Type:
Journal Article
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4. MG-132 Diagnostic utility of whole genome sequencing in paediatric medicine. (4th December 2015)

Authors:
Marshall, Christian R; Stavropoulos, Dimitri J; Jobling, Rebekah; Merico, Daniele; Bowdin, Sarah; Monfared, Nasim; Meyn, MStephen; Szego, Michael; Shaul, Randi Zlotnik; Thiruvahindrapuram, Bhooma; Pellecchia, Giovanna; Nalpathamkalam, Thomas; Brudno, Michael; Girdea, Marta; Hayeems, Robin Z; Care...
Journal:
Journal of medical genetics
Issue:
Volume 52(2015)Supplement 2
Page Start:
A12
Record Type:
Journal Article
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5. PhenomeCentral: 7 years of rare disease matchmaking. Issue 6 (22nd February 2022)

Authors:
Osmond, Matthew; Hartley, Taila; Johnstone, Brittney; Andjic, Sasha; Girdea, Marta; Gillespie, Meredith; Buske, Orion; Dumitriu, Sergiu; Koltunova, Veronika; Ramani, Arun; Boycott, Kym M.; Brudno, Michael
Other Names:
Boycott Kym guestEditor.; Hamosh Ada guestEditor.; Rehm Heidi guestEditor.
Journal:
Human mutation
Issue:
Volume 43:Issue 6(2022)
Page Start:
674
Record Type:
Journal Article
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6. PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases. Issue 10 (31st August 2015)

Authors:
Buske, Orion J.; Girdea, Marta; Dumitriu, Sergiu; Gallinger, Bailey; Hartley, Taila; Trang, Heather; Misyura, Andriy; Friedman, Tal; Beaulieu, Chandree; Bone, William P.; Links, Amanda E.; Washington, Nicole L.; Haendel, Melissa A.; Robinson, Peter N.; Boerkoel, Cornelius F.; Adams, David; Gahl, ...
Journal:
Human mutation
Issue:
Volume 36:Issue 10(2015:Oct.)
Page Start:
931
Record Type:
Journal Article
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7. PhenoTips: Patient Phenotyping Software for Clinical and Research Use. Issue 8 (24th May 2013)

Authors:
Girdea, Marta; Dumitriu, Sergiu; Fiume, Marc; Bowdin, Sarah; Boycott, Kym M.; Chénier, Sébastien; Chitayat, David; Faghfoury, Hanna; Meyn, M. Stephen; Ray, Peter N.; So, Joyce; Stavropoulos, Dimitri J.; Brudno, Michael
Journal:
Human mutation
Issue:
Volume 34:Issue 8(2013:Aug.)
Page Start:
1057
Record Type:
Journal Article
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8. Phenotyping: Targeting genotype's rich cousin for diagnosis. (11th August 2014)

Authors:
Baynam, Gareth; Walters, Mark; Claes, Peter; Kung, Stefanie; LeSouef, Peter; Dawkins, Hugh; Bellgard, Matthew; Girdea, Marta; Brudno, Michael; Robinson, Peter; Zankl, Andreas; Groza, Tudor; Gillett, David; Goldblatt, Jack
Journal:
Journal of paediatrics and child health
Issue:
Volume 51:Number 4(2015:Apr.)
Page Start:
381
Record Type:
Journal Article
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9. The Matchmaker Exchange API: Automating Patient Matching Through the Exchange of Structured Phenotypic and Genotypic Profiles. Issue 10 (17th September 2015)

Authors:
Buske, Orion J.; Schiettecatte, François; Hutton, Benjamin; Dumitriu, Sergiu; Misyura, Andriy; Huang, Lijia; Hartley, Taila; Girdea, Marta; Sobreira, Nara; Mungall, Chris; Brudno, Michael
Journal:
Human mutation
Issue:
Volume 36:Issue 10(2015:Oct.)
Page Start:
922
Record Type:
Journal Article
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10. The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery. Issue 10 (17th September 2015)

Authors:
Philippakis, Anthony A.; Azzariti, Danielle R.; Beltran, Sergi; Brookes, Anthony J.; Brownstein, Catherine A.; Brudno, Michael; Brunner, Han G.; Buske, Orion J.; Carey, Knox; Doll, Cassie; Dumitriu, Sergiu; Dyke, Stephanie O.M.; den Dunnen, Johan T.; Firth, Helen V.; Gibbs, Richard A.; Girdea, Ma...
Journal:
Human mutation
Issue:
Volume 36:Issue 10(2015:Oct.)
Page Start:
915
Record Type:
Journal Article
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