Publications by authors named "Anastasios Papakonstantinou"

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The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Steven Laurie, Davide Piscia, Leslie Matalonga, Alberto Corvó, Marcos Fernández-Callejo, Anastasios Papakonstantinou

Hum Mutat· June 2022

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The GA4GH Phenopacket schema defines a computable representation of clinical data.
Julius O B Jacobsen, Michael Baudis, Gareth S Baynam, Jacques S Beckmann, Sergi Beltran, Anastasios Papakonstantinou

Nat Biotechnol· June 2022

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Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Gemma Bullich, Leslie Matalonga, Montserrat Pujadas, Anastasios Papakonstantinou, Davide Piscia

J Mol Diagn· May 2022

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Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Leslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, , Rebecca Schüle, Anastasios Papakonstantinou

Eur J Hum Genet· September 2021

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Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Leslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, , Rebecca Schüle, Anastasios Papakonstantinou

Eur J Hum Genet· September 2021

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Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.
Leslie Matalonga, Steven Laurie, Anastasios Papakonstantinou, Davide Piscia, Elisabetta Mereu

J Mol Diagn· September 2020

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ODYSSEAS: supervised use of drugs versus bureaucracy in Greece.
Meni Malliori, Sofia Galinaki, Anastasios K Papakonstantinou

Lancet Psychiatry· February 2015

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Socio-demographic status and alcohol drinking patterns among Greek healthy adults.
Pandelis Pazarlis, Davide Mauri, Ivan Cortinovis, Konstantinos Katsigiannopoulos, Paraskevi Alevizaki, Anastasios Papakonstantinou

Cent Eur J Public Health· December 2006

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