Publications
100 results
100 results
2020
Gutiérrez-Sacristán A, De Niz C, Kothari C, Kong SW, Mandl K, Avillach P. GenoPheno: cataloging large-scale phenotypic and next-generation sequencing data within human datasets.
Brief Bioinform. 2020; PMID: 32249310
Gutiérrez-Sacristán A, De Niz C, Kothari C, Kong SW, Mandl K, Avillach P. GenoPheno: cataloging large-scale phenotypic and next-generation sequencing data within human datasets.
Brief Bioinform. 2020; PMID: 32249310
Newby D, Prieto-Alhambra D, Duarte-Salles T, Ansell D, Pedersen L, Lei J, Mosseveld M, Rijnbeek P, James G, Alexander M, Egger P, Podhorna J, Stewart R, Perera G, Avillach P, Grosdidier S, Lovestone S, Nevado-Holgado A. Methotrexate and relative risk of dementia amongst patients with rheumatoid arthritis: a multi-national multi-database case-control study.
Alzheimers Res Ther. 2020;12(1):38. PMID: 32252806
Newby D, Prieto-Alhambra D, Duarte-Salles T, Ansell D, Pedersen L, Lei J, Mosseveld M, Rijnbeek P, James G, Alexander M, Egger P, Podhorna J, Stewart R, Perera G, Avillach P, Grosdidier S, Lovestone S, Nevado-Holgado A. Methotrexate and relative risk of dementia amongst patients with rheumatoid arthritis: a multi-national multi-database case-control study.
Alzheimers Res Ther. 2020;12(1):38. PMID: 32252806
Versmée G, Versmée L, Dusenne M, Jalali N, Avillach P. dbgap2x: an R package to explore and extract data from the database of Genotypes and Phenotypes (dbGaP).
Bioinformatics. 2020;36(4):1305–1306. PMID: 31504194
Versmée G, Versmée L, Dusenne M, Jalali N, Avillach P. dbgap2x: an R package to explore and extract data from the database of Genotypes and Phenotypes (dbGaP).
Bioinformatics. 2020;36(4):1305–1306. PMID: 31504194
Luo Y, Eran A, Palmer N, Avillach P, Levy-Moonshine A, Szolovitis P, Kohane I. A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia.
Nat Med. 2020;
Luo Y, Eran A, Palmer N, Avillach P, Levy-Moonshine A, Szolovitis P, Kohane I. A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia.
Nat Med. 2020;
Miller T, Avillach P, Mandl K. Experiences implementing scalable, containerized, cloud-based NLP for extracting biobank participant phenotypes at scale.
JAMIA Open. 2020;3(2):185–189.
Miller T, Avillach P, Mandl K. Experiences implementing scalable, containerized, cloud-based NLP for extracting biobank participant phenotypes at scale.
JAMIA Open. 2020;3(2):185–189.
Saez C, Gutiérrez-Sacristán A, Kohane I, Garcia-Gomez J, Avillach P. EHRtemporalVariability: delineating temporal data-set shifts in electronic health records.
Gigascience. 2020;
Saez C, Gutiérrez-Sacristán A, Kohane I, Garcia-Gomez J, Avillach P. EHRtemporalVariability: delineating temporal data-set shifts in electronic health records.
Gigascience. 2020;
Krissaane I, De Niz C, Gutiérrez-Sacristán A, Korodi G, Ede N, Kumar R, Lyons J, Manrai A, Patel C, Kohane I, Avillach P. Scalability and cost-effectiveness analysis of whole genome-wide association studies on Google Cloud Platform and Amazon Web Services.
JAMIA. 2020;
Krissaane I, De Niz C, Gutiérrez-Sacristán A, Korodi G, Ede N, Kumar R, Lyons J, Manrai A, Patel C, Kohane I, Avillach P. Scalability and cost-effectiveness analysis of whole genome-wide association studies on Google Cloud Platform and Amazon Web Services.
JAMIA. 2020;
Zachariasse J, Nieboer D, Maconochie I, Smit F, Alves C, Greber-Platzer S, Tsolia M, Steyerberg E, Avillach P, Lei J, Moll H. Development and validation of a Paediatric Early Warning Score for use in the emergency department: a multicentre study.
Lancet Child Adolesc Health. 2020;
Zachariasse J, Nieboer D, Maconochie I, Smit F, Alves C, Greber-Platzer S, Tsolia M, Steyerberg E, Avillach P, Lei J, Moll H. Development and validation of a Paediatric Early Warning Score for use in the emergency department: a multicentre study.
Lancet Child Adolesc Health. 2020;
Sylvestre E, Bouzille G, McDuffie M, Chazard E, Avillach P, Cuggia M. A Semi-Automated Approach for Multilingual Terminology Matching: Mapping the French Version of the ICD-10 to the ICD-10 CM.
Stud Health Technol Inform. 2020;
Sylvestre E, Bouzille G, McDuffie M, Chazard E, Avillach P, Cuggia M. A Semi-Automated Approach for Multilingual Terminology Matching: Mapping the French Version of the ICD-10 to the ICD-10 CM.
Stud Health Technol Inform. 2020;
James G, Collin E, Lawrance M, Mueller A, Podhorna J, Zaremba-Pechmann L, Rijnbeek P, Lei J, Avillach P, Pederson L, Ansell D, Pasqua A, Mosseveld M, Grosdidier S, Gungabissoon U, Egger P, Stewart R, Celis-Morales C, Alexander M, Novak G, Gordon MF. Treatment pathway analysis of newly diagnosed dementia patients in four electronic health record databases in Europe.
Soc Psychiatry Psychiatry Epidemiol. . 2020;
James G, Collin E, Lawrance M, Mueller A, Podhorna J, Zaremba-Pechmann L, Rijnbeek P, Lei J, Avillach P, Pederson L, Ansell D, Pasqua A, Mosseveld M, Grosdidier S, Gungabissoon U, Egger P, Stewart R, Celis-Morales C, Alexander M, Novak G, Gordon MF. Treatment pathway analysis of newly diagnosed dementia patients in four electronic health record databases in Europe.
Soc Psychiatry Psychiatry Epidemiol. . 2020;
Kessler M, Loesch D, Perry J, Heard-Costa N, Taliun D, Cade B, Wang H, Daya M, Ziniti J, Datta S, Celedon J, Soto-Quiros M, Avila L, Weiss S, Barnes K, Redline S, Vasan R, Johnson A, Mathias R, Hernandez R, Wilson J, Nickerson D, Abecasis G, Browning S, Zollner S, O’Connell J, Mitchell B, Consortium NTOPM, Group TPGW, O’Connor T. De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder populations.
Proc Natl Acad Sci U S A. 2020;117(5):2560–2569.
Kessler M, Loesch D, Perry J, Heard-Costa N, Taliun D, Cade B, Wang H, Daya M, Ziniti J, Datta S, Celedon J, Soto-Quiros M, Avila L, Weiss S, Barnes K, Redline S, Vasan R, Johnson A, Mathias R, Hernandez R, Wilson J, Nickerson D, Abecasis G, Browning S, Zollner S, O’Connell J, Mitchell B, Consortium NTOPM, Group TPGW, O’Connor T. De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder populations.
Proc Natl Acad Sci U S A. 2020;117(5):2560–2569.
2019
Clarke D, Wang L, Jones A, Wojciechowicz M, Torre D, Jagodnik K, Jenkins S, McQuilton P, Flamholz Z, Silverstein M, Schilder B, Robasky K, Castillo C, Idaszak R, Ahalt S, Williams J, Schurer S, Cooper D, Miranda Azevedo R, Klenk J, Haendel M, Nedzel J, Avillach P, Shimoyama M, Harris R, Gamble M, Poten R, Charbonneau A, Larkin J, Brown T, Bonazzi V, Dumontier M, Sansone SA, Ma’ayan A. FAIRshake: Toolkit to Evaluate the FAIRness of Research Digital Resources.
Cell Syst. 2019;9(5):417–421. PMID: 31677972
Clarke D, Wang L, Jones A, Wojciechowicz M, Torre D, Jagodnik K, Jenkins S, McQuilton P, Flamholz Z, Silverstein M, Schilder B, Robasky K, Castillo C, Idaszak R, Ahalt S, Williams J, Schurer S, Cooper D, Miranda Azevedo R, Klenk J, Haendel M, Nedzel J, Avillach P, Shimoyama M, Harris R, Gamble M, Poten R, Charbonneau A, Larkin J, Brown T, Bonazzi V, Dumontier M, Sansone SA, Ma’ayan A. FAIRshake: Toolkit to Evaluate the FAIRness of Research Digital Resources.
Cell Syst. 2019;9(5):417–421. PMID: 31677972