Julius O B Jacobsen (Julius Ob Jacobsen)

Publication Activity (10 Years)

Years Active: 2015-2024
Publications (10 Years): 26

Top Topics

Clinical Decision Support

Top Venues

Prenatal diagnosis

medRxiv : the preprint server for health sciences

Nucleic acids research

This page only lists publications with an associated author ORCID identifier.

Publications

Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis (2024)
Yasemin Bridges, Vinícius De Souza, Katherina G Cortes, Melissa A Haendel, Nomi L Harris, Daniel R Korn, Nikolaos M Marinakis, Nicolas A Matentzoglu, James Alastair McLaughlin, Christopher John Mungall, David Osumi-Sutherland, Peter Nick Robinson, Damian Smedley, Julius O B Jacobsen
Towards a standard benchmark for variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework. bioRxiv : the preprint server for biology (2024)
Yasemin Bridges, Vinícius De Souza, Katherina G Cortes, Melissa A Haendel, Nomi L Harris, Daniel R Korn, Nikolaos M Marinakis, Nicolas A Matentzoglu, James Alastair McLaughlin, Christopher John Mungall, David Osumi-Sutherland, Peter Nick Robinson, Damian Smedley, Julius O B Jacobsen
Towards a standard benchmark for variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework. bioRxiv : the preprint server for biology (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis 44 (4) (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis 44 (4) (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis 44 (4) (2024)
Daniel Danis, Michael J Bamshad, Yasemin Bridges, Pilar Cacheiro, Leigh C Carmody, Jessica Xiao-Ling Chong, Ben Coleman, Raymond Dalgleish, Peter J Freeman, Adam S L Graefe, Tudor Groza, Julius O B Jacobsen, Adam Klocperk, Maaike A A Kusters, Markus S Ladewig, Anthony J Marcello, Teresa Mattina, Christopher John Mungall, Monica C Munoz-Torres, Justin T Reese, Filip Rehburg, Bárbara C S Reis, Catharina Schuetz, Damian Smedley, Timmy Strauß, Jagadish Chandrabose Sundaramurthi, Sylvia Thun, Kyran Wissink, John F Wagstaff, David Zocche, Melissa A Haendel, Peter Nick Robinson
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery. medRxiv : the preprint server for health sciences (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis 44 (4) (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis 44 (4) (2024)
Daniel Danis, Michael J Bamshad, Yasemin Bridges, Pilar Cacheiro, Leigh C Carmody, Jessica Xiao-Ling Chong, Ben Coleman, Raymond Dalgleish, Peter J Freeman, Adam S L Graefe, Tudor Groza, Julius O B Jacobsen, Adam Klocperk, Maaike A A Kusters, Markus S Ladewig, Anthony J Marcello, Teresa Mattina, Christopher John Mungall, Monica C Munoz-Torres, Justin T Reese, Filip Rehburg, Bárbara C S Reis, Catharina Schuetz, Damian Smedley, Timmy Strauß, Jagadish Chandrabose Sundaramurthi, Sylvia Thun, Kyran Wissink, John F Wagstaff, David Zocche, Melissa A Haendel, Peter Nick Robinson
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery. medRxiv : the preprint server for health sciences (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis 44 (4) (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis (2024)
Timothy Putman, Kevin Schaper, Nicolas A Matentzoglu, Vincent P Rubinetti, Faisal S Alquaddoomi, Corey Cox, J Harry Caufield, Glass Elsarboukh, Sarah Gehrke, Harshad Hegde, Justin T Reese, Ian Braun, Richard M Bruskiewich, Luca Cappelletti, Seth J Carbon, Anita R Caron, Lauren E Chan, Christopher G Chute, Katherina G Cortes, Vinícius De Souza, Tommaso Fontana, Nomi L Harris, Emily L Hartley, Eric Hurwitz, Julius O B Jacobsen, Madan Krishnamurthy, Bryan J Laraway, James Alastair McLaughlin, Julie A McMurry, Sierra A T Moxon, Kathleen R Mullen, Shawn T O'Neil, Kent A Shefchek, Ray Stefancsik, Sabrina Toro, Nicole A Vasilevsky, Ramona L Walls, Patricia L Whetzel, David Osumi-Sutherland, Damian Smedley, Peter Nick Robinson, Christopher John Mungall, Melissa A Haendel, Monica C Munoz-Torres
The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species. Nucleic acids research (2023)
Daniel Danis, Julius O B Jacobsen, Alex H Wagner, Tudor Groza, Martha A Beckwith, Lauren Rekerle, Leigh C Carmody, Justin T Reese, Harshad Hegde, Markus S Ladewig, Berthold Seitz, Monica Munoz-Torres, Nomi L Harris, Jordi Rambla, Michael Baudis, Christopher J Mungall, Melissa A Haendel, Peter Nick Robinson
Phenopacket-tools: Building and validating GA4GH Phenopackets. PloS one 18 (5) (2023)
Daniel Danis, Julius O B Jacobsen, Alex H Wagner, Tudor Groza, Martha A Beckwith, Lauren Rekerle, Leigh C Carmody, Justin T Reese, Harshad Hegde, Markus S Ladewig, Berthold Seitz, Monica Munoz-Torres, Nomi L Harris, Jordi Rambla, Michael Baudis, Christopher J Mungall, Melissa A Haendel, Peter Nick Robinson
Phenopacket-tools: Building and validating GA4GH Phenopackets. PloS one 18 (5) (2023)
Daniel Danis, Julius O B Jacobsen, Alex H Wagner, Tudor Groza, Martha A Beckwith, Lauren Rekerle, Leigh C Carmody, Justin T Reese, Harshad Hegde, Markus S Ladewig, Berthold Seitz, Monica Munoz-Torres, Nomi L Harris, Jordi Rambla, Michael Baudis, Christopher J Mungall, Melissa A Haendel, Peter Nick Robinson
Phenopacket-tools: Building and validating GA4GH Phenopackets. PloS one 18 (5) (2023)
Michael A Gargano, Nicolas A Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V Anagnostopoulos, Joel Anderton, Paul Avillach, Anita M Bagley, Eduard Bakštein, James P Balhoff, Gareth Baynam, Susan M Bello, Michael Berk, Holli Bertram, Somer L Bishop, Hannah Blau, David F Bodenstein, Pablo Botas, Kaan Boztug, Jolana Čady, Tiffany J Callahan, Rhiannon Cameron, Seth J Carbon, Francisco Castellanos, J Harry Caufield, Lauren E Chan, Christopher G Chute, Jaime Cruz-Rojo, Noemi Dahan-Oliel, Jon Robert Davids, Maud De Dieuleveult, Vinicius de Souza, Bert B A de Vries, Esther de Vries, J Raymond DePaulo, Beata Derfalvi, Ferdinand Dhombres, Claudia Diaz-Byrd, Alexander J M Dingemans, Bruno Donadille, Michael Henri Duyzend, Reem Elfeky, Shahim Essaid, Carolina Fabrizzi, Giovanna Fico, Helen V Firth, Yun Freudenberg-Hua, Janice M Fullerton, Davera L Gabriel, Kimberley C Gilmour, Jessica L Giordano, Fernando S Goes, Rachel Gore Moses, Ian Green, Matthias Griese, Tudor Groza, Weihong Gu, Julia Pazmandi, Benjamin M Gyori, Ada Hamosh, Marc Hanauer, Kateřina Hanušová, Yongqun Oliver He, Harshad Hegde, Ingo Helbig, Kateřina Řehořová, Charles Tapley Hoyt, Shangzhi Huang, Eric Hurwitz, Julius O B Jacobsen, Xiaofeng Jiang, Lisa Joseph, Kamyar Keramatian, Bryan King, Katrin Knoflach, David A Koolen, Megan L Kraus, Carlo Kroll, Maaike A A Kusters, Markus S Ladewig, David Lagorce, Meng-Chuan Lai, Pablo Lapunzina, Bryan Laraway, David Lewis-Smith, Xiarong Li, Caterina Lucano, Marzieh Majd, Mary L Marazita, Victor Martínez-González, Toby H McHenry, Melvin G McInnis, Julie A McMurry, Michaela Zelinová, Caitlin E Millett, Philip B Mitchell, Veronika Moslerová, Kenji Narutomi, Shahrzad Nematollahi, Julián Nevado, Andrew A Nierenberg, Nikola Novák Čajbiková, Michael C Neale, Soichi Ogishima, Daniel Olson, Abigail Ortiz, Harry Pachajoa, Guiomar Perez de Nanclares, Amy T Peters, Timothy Putman, Christina K Rapp, Ana Rath, Justin T Reese, Lauren Rekerle, Angharad M Roberts, Suzy Roy, Stephan J Sanders, Catharina Schuetz, Eva C Schulte, Thomas G Schulze, Martin Schwarz, Katie Scott, Dominik Seelow, Berthold Seitz, Yiping Shen, Morgan N Similuk, Eric S Simon, Balwinder Singh, Damian Smedley, Cynthia L Smith, Jake T Smolinsky, Sarah H Sperry, Elizabeth Stafford, Ray Stefancsik, Robin Steinhaus, Rebecca Strawbridge, Jagadish Chandrabose Sundaramurthi, Polina Talapova, Jair Antonio Tenorio Castaño, Pavel Tesner, Rhys Huw Thomas, Audrey Thurm, Marek Turnovec, Marielle E van Gijn, Nicole A Vasilevsky, Markéta Vlčková, Anita Walden, Kai Wang, Ronald J Wapner, James Simon Ware, Addo A Wiafe, Samuel A Wiafe, Lisa D Wiggins, Andrew E Williams, Chen Wu, Margot Julia Wyrwoll, Hui Xiong, Nefize Yalin, Yasunori Yamamoto, Lakshmi N Yatham, Anastasia K Yocum, Allan H Young, Zafer Yüksel, Peter P Zandi, Andreas Zankl, Ignacio Zarante, Miroslav Zvolský, Sabrina Toro, Leigh C Carmody, Nomi L Harris, Monica C Munoz-Torres, Daniel Danis, Christopher John Mungall, Sebastian Koehler, Melissa A Haendel, Peter Nick Robinson
The Human Phenotype Ontology in 2024: phenotypes around the world. Nucleic acids research (2023)
Sarah L Stenton, Melanie O'Leary, Gabrielle T Lemire, Grace E VanNoy, Stephanie DiTroia, Vijay S Ganesh, Emily Groopman, Emily O'Heir, Brian Mangilog, Ikeoluwa Osei-Owusu, Lynn S Pais, Jillian G Serrano, Moriel H Singer-Berk, Ben Weisburd, Michael Wilson, Christina Austin-Tse, Marwa Abdelhakim, Azza Thamer Althagafi, Giulia Babbi, Riccardo Bellazzi, Samuele Bovo, Maria Giulia Carta, Rita Casadio, Pieter-Jan Coenen, Federica De Paoli, Matteo Floris, Manavalan Gajapathy, Hoehndorf Robert, Julius O B Jacobsen, Thomas Joseph, Akash Kamandula, Panagiostis Katsonis, Cyrielle Kint, Olivier Lichtarge, Ivan Limongelli, Yulan Lu, Paolo Magni, Tarun Karthik Kumar Mamidi, Pier Luigi Martelli, Marta Mulargia, Giovanna Nicora, Keith Nykamp, Vikas Pejaver, Yisu Peng, Thi Hong Cam Pham, Maurizio S Podda, Aditya Rao, Ettore Rizzo, Vangala G Saipradeep, Castrense Savojardo, Peter Schols, Yang Shen, Naveen Sivadasan, Damian Smedley, Dorian Soru, Rajgopal Srinivasan, Yuanfei Sun, Uma Sunderam, Wuwei Tan, Naina Tiwari, Xiao Wang, Yaqiong Wang, Amanda Williams, Elizabeth A Worthey, Rujie Yin, Yuning You, Daniel Zeiberg, Susanna Zucca, Constantina Bakolitsa, Steven E Brenner, Stephanie Malia Fullerton, Predrag Radivojac, Michael J Bamshad, Anne H O'Donnell-Luria
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project. medRxiv : the preprint server for health sciences (2023)
Julius O B Jacobsen, Michael Baudis, Gareth S Baynam, Jacques S Beckmann, Sergi Beltran, Orion J Buske, Tiffany J Callahan, Christopher G Chute, Mélanie Courtot, Daniel Danis, Olivier Elemento, Andrea Essenwanger, Robert R Freimuth, Michael A Gargano, Tudor Groza, Ada Hamosh, Nomi L Harris, Rajaram Kaliyaperumal, Kevin C Kent Lloyd, Aly Khalifa, Peter M Krawitz, Sebastian Köhler, Brian J Laraway, Heikki Lehväslaiho, Leslie Matalonga, Julie A McMurry, Alejandro Metke-Jimenez, Christopher J Mungall, Monica C Munoz-Torres, Soichi Ogishima, Anastasios Papakonstantinou, Davide Piscia, Nikolas Pontikos, Núria Queralt-Rosinach, Marco Roos, Julian Sass, Paul N Schofield, Dominik Seelow, Anastasios Siapos, Damian Smedley, Lindsay D Smith, Robin Steinhaus, Jagadish Chandrabose Sundaramurthi, Emilia M Swietlik, Sylvia Thun, Nicole A Vasilevsky, Alex H Wagner, Jeremy L Warner, Claus Weiland, null null, Melissa A Haendel, Peter Nick Robinson
The GA4GH Phenopacket schema defines a computable representation of clinical data. Nature biotechnology 40 (6) (2022)
Steven Laurie, Davide Piscia, Leslie Matalonga, Alberto Corvó, Marcos Fernandez-Callejo, Carles Garcia-Linares, Carles Hernandez-Ferrer, Cristina Luengo, Inés Martínez, Anastasios Papakonstantinou, Daniel Picó-Amador, Joan Protasio, Rachel Thompson, Raul Tonda, Mònica Bayés, Gemma Bullich, Jordi Camps-Puchadas, Ida Paramonov, Jean-Rémi Trotta, Angel Alonso, Marcella Attimonelli, Christophe Béroud, Virginie Bros-Facer, Orion J Buske, Andrés Cañada-Pallarés, José María Fernandez, Mats G Hansson, Rita Horvath, Julius O B Jacobsen, Rajaram Kaliyaperumal, Séverine Lair-Préterre, Luana Licata, Pedro Lopes, Estrella López-Martín, Deborah Mascalzoni, Lucia Monaco, Luis A Pérez-Jurado, Manuel Posada-de-la-Paz, Jordi Rambla De Argila, Ana Rath, Olaf H Rieß, Peter Nick Robinson, David Salgado, Damian Smedley, J Dylan Spalding, Peter A C 't Hoen, Ana Topf, Irina T Zaharieva, Holm Graessner, Ivo Glynne Gut, Hanns Lochmüller, Sergi Beltran
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases. Human mutation 43 (6) (2022)
Julie A McMurry, Sebastian Koehler, Nicole L Washington, James P Balhoff, Charles D Borromeo, Matthew Brush, Seth J Carbon, Tom Conlin, Nathan A Dunn, Mark Engelstad, Erin D Foster, Jean-Philippe Gourdine, Julius O B Jacobsen, Daniel Keith, Bryan Laraway, Jeremy Nguyen Xuan, Kent Shefchek, Nicole A Vasilevsky, Zhou Yuan, Suzanna E Lewis, Harry Hochheiser, Tudor Groza, Damian Smedley, Peter Nick Robinson, Christopher John Mungall, Melissa A Haendel
Navigating the Phenotype Frontier: The Monarch Initiative. Genetics 203 (4) (2017)
Damian Smedley, Julius O B Jacobsen, Marten Jäger, Sebastian Koehler, Manuel Holtgrewe, Max Schubach, Enrico Siragusa, Tomasz Zemojtel, Orion J Buske, Nicole L Washington, William P Bone, Melissa A Haendel, Peter Nick Robinson
Next-generation diagnostics and disease-gene discovery with the Exomiser. Nature protocols 10 (12) (2015)