Jacobsen Julius - London School of Medicine and Dentistry, Queen Queen Mary University of London London

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论文共 55 篇作者统计合作学者相似作者

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Towards a Standard Benchmark for Phenotype-Driven Variant and Gene Prioritisation Algorithms: PhEval - Phenotypic Inference Evaluation Framework

Yasemin Bridges,Vinicius de Souza,Katherina G. Cortes,Melissa Haendel,Nomi L. Harris,Daniel R. Korn,Nikolaos M. Marinakis,Nicolas Matentzoglu,James A. McLaughlin,Christopher J. Mungall, Aaron Odell,David Osumi-Sutherland,Peter N. Robinson,Damian Smedley,Julius O. B. Jacobsen

BMC Bioinformaticsno. 1 (2025): 1-18

引用0浏览0WOSEI引用

The Unified Phenotype Ontology (upheno): A Framework for Cross-Species Integrative Phenomics

Genetics（2025）

引用0浏览0WOS引用

Rare Disease Gene Association Discovery in the 100,000 Genomes Project

Valentina Cipriani,Letizia Vestito,Emma F Magavern,Julius O B Jacobsen,Gavin Arno,Elijah R Behr,Katherine A Benson,Marta Bertoli,Detlef Bockenhauer,Michael R Bowl,Kate Burley,Li F Chan,Patrick Chinnery,Peter J Conlon, Marcos A Costa,Alice E Davidson,Sally J Dawson,Elhussein A E Elhassan,Sarah E Flanagan,Marta Futema,Daniel P Gale,Sonia García-Ruiz, Cecilia Gonzalez Corcia, Helen R Griffin,Sophie Hambleton,Amy R Hicks,Henry Houlden,Richard S Houlston,Sarah A Howles,Robert Kleta, Iris Lekkerkerker,Siying Lin,Petra Liskova, Hannah H Mitchison,Heba Morsy,Andrew D Mumford,William G Newman,Ruxandra Neatu,Edel A O'Toole,Albert C M Ong,Alistair T Pagnamenta,Shamima Rahman,Neil Rajan,Peter N Robinson,Mina Ryten,Omid Sadeghi-Alavijeh,John A Sayer,Claire L Shovlin,Jenny C Taylor,Omri Teltsh,Ian Tomlinson,Arianna Tucci,Clare Turnbull,Albertien M van Eerde,James S Ware,Laura M Watts,Andrew R Webster,Sarah K Westbury,Sean L Zheng,Mark Caulfield,Damian Smedley

Nature (2025)

引用0浏览0WOSNATURE引用

GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders

Lauren Rekerle,Daniel Danis, Filip Rehburg, Adam Sl Graefe, Viktor Bily,Andrés Caballero-Oteyza,Pilar Cacheiro, Leonardo Chimirri,Jessica X Chong, Evan Connelly, Bert Ba de Vries,Alexander Jm Dingemans,Michael H Duyzend,Tomas Freiberger, Petra Gehle,Tudor Groza, Peter Hansen,Julius O B Jacobsen,Adam Klocperk,Markus S Ladewig,Michael I Love, Allison J Marcello,Alexander Mordhorst,Monica C Munoz-Torres, Justin Reese, Catharina Schütz,Damian Smedley,Timmy Strauss, Ondrej Vladyka,David Zocche,Sylvia Thun,Christopher J Mungall,Melissa A Haendel,Peter N Robinson

medRxiv the preprint server for health sciences (2025)

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Leveraging Clinical Intuition to Improve Accuracy of Phenotype-Driven Prioritization

Martha A. Beckwith,Daniel Danis,Yasemin Bridges,Julius O. B. Jacobsen,Damian Smedley,Peter N. Robinson

GENETICS IN MEDICINE（2025）

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A Corpus of GA4GH Phenopackets: Case-Level Phenotyping for Genomic Diagnostics and Discovery

Daniel Danis,Michael J. Bamshad,Yasemin Bridges,Andres Caballero-Oteyza,Pilar Cacheiro,Leigh C. Carmody, Leonardo Chimirri,Jessica X. Chong,Ben Coleman,Raymond Dalgleish,Peter J. Freeman, Adam S. L. Graefe,Tudor Groza,Peter Hansen,Julius O. B. Jacobsen,Adam Klocperk,Maaike Kusters,Markus S. Ladewig, Anthony J. Marcello,Teresa Mattina,Christopher J. Mungall,Monica C. Munoz-Torres,Justin T. Reese, Filip Rehburg, Barbara 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 N. Robinson

HUMAN GENETICS AND GENOMICS ADVANCES（2025）

引用3浏览0WOS引用

Evaluation of the Diagnostic Accuracy of GPT-4 in Five Thousand Rare Disease Cases

Justin T Reese, Leonardo Chimirri,Yasemin Bridges,Daniel Danis,J Harry Caufield, Kyran Wissink,Julie A McMurry, Adam Sl Graefe,Elena Casiraghi,Giorgio Valentini,Julius Ob Jacobsen,Melissa Haendel,Damian Smedley,Christopher J Mungall,Peter N Robinson

medRxiv the preprint server for health sciences (2024)

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Improving Prenatal Diagnosis Through Standards and Aggregation

Michael H Duyzend,Pilar Cacheiro,Julius O B Jacobsen,Jessica Giordano,Harrison Brand,Ronald J Wapner,Michael E Talkowski,Peter N Robinson,Damian Smedley

Prenatal diagnosis (2024)

引用3浏览0WOS引用

Learning from Conect4children: A Collaborative Approach Towards Standardisation of Disease-Specific Paediatric Research Data

Anando Sen,Victoria Hedley,Eva Degraeuwe,Steven Hirschfeld,Ronald Cornet,Ramona Walls,John Owen,Peter N. Robinson, Edward G. Neilan,Thomas Liener, Giovanni Nisato,Neena Modi,Simon Woodworth,Avril Palmeri, Ricarda Gaentzsch, Melissa Walsh,Teresa Berkery,Joanne Lee,Laura Persijn, Kasey Baker,Kristina An Haack, Sonia Segovia Simon,Julius O. B. Jacobsen,Giorgio Reggiardo, Melissa A. Kirwin, Jessie Trueman,Claudia Pansieri,Donato Bonifazi,Sinead Nally,Fedele Bonifazi,Rebecca Leary,Volker Straub

DATA（2024）

引用1浏览0EI引用

Efficient Reinterpretation of Rare Disease Cases Using Exomiser

Letizia Vestito,Julius O. B. Jacobsen, Susan Walker,Valentina Cipriani,Nomi L. Harris,Melissa A. Haendel,Christopher J. Mungall,Peter Robinson,Damian Smedley

NPJ GENOMIC MEDICINEno. 1 (2024)

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