Steven Rust

Affiliations

Department of Antibody Discovery and Protein Engineering, AstraZeneca R&D, Granta Park, Cambridge, CB21 6GH, UK.

Publications (14)

TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents.

Journal of medical genetics

Avec: Julien H Park , Jiraporn Ousingsawat , Inês Cabrita , Ruth E Bettels , Jörg Große-Onnebrink , Christian Schmalstieg , Saskia Biskup , Janine Reunert , Stephan Rust , Rainer Schreiber , Karl Kunzelmann , Thorsten Marquardt

Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England.

Molecular genetics and metabolism

Avec: A Broomfield , J Davison , J Roberts , C Stewart , P Hensman , C Beesley , K Tylee , S Rust , B Schwahn , E Jameson , S Vijay , S Santra , S Sreekantam , U Ramaswami , A Chakrapani , J Raiman , M A Cleary , S A Jones

A hospital-based study on caregiver preferences on acute seizure rescue medications in pediatric patients with epilepsy: Intranasal midazolam versus rectal diazepam.

Epilepsy & behavior : E&B

Avec: Sunjay Nunley , Peter Glynn , Steve Rust , Jorge Vidaurre , Dara V F Albert , Anup D Patel

Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints.

Molecular genetics and metabolism

Avec: Johanna H van der Lee , Jonathan Morton , Heather R Adams , Lorne Clarke , Julie B Eisengart , Maria L Escolar , Roberto Giugliani , Paul Harmatz , Melissa Hogan , Shauna Kearney , Joseph Muenzer , Nicole Muschol , Stewart Rust , Benjamin R Saville , Margaret Semrud-Clikeman , Raymond Wang , Elsa Shapiro

A receptor for the complement regulator factor H increases transmission of trypanosomes to tsetse flies.

Nature communications

Avec: Olivia J S Macleod , Jean-Mathieu Bart , Paula MacGregor , Lori Peacock , Nicholas J Savill , Svenja Hester , Sophie Ravel , Jack D Sunter , Camilla Trevor , Steven Rust , Tristan J Vaughan , Ralph Minter , Shabaz Mohammed , Wendy Gibson , Martin C Taylor , Matthew K Higgins , Mark Carrington

Cerebro-oculo-facio-skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2.

American journal of medical genetics. Part A

Avec: Janine Reunert , Alijda van den Heuvel , Stephan Rust , Thorsten Marquardt

A natural language processing pipeline to synthesize patient-generated notes toward improving remote care and chronic disease management: a cystic fibrosis case study.

JAMIA open

Avec: Syed-Amad Hussain , Emre Sezgin , Katelyn Krivchenia , John Luna , Steve Rust , Yungui Huang

Severe Form of ßIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy-A Case Report.

Frontiers in neurology

Avec: Aziza Miriam Belkheir , Janine Reunert , Christiane Elpers , Lambert van den Heuvel , Richard Rodenburg , Anja Seelhöfer , Stephan Rust , Astrid Jeibmann , Michael Frosch , Thorsten Marquardt

A mutation in the neonatal isoform of SCN2A causes neonatal-onset epilepsy.

American journal of medical genetics. Part A

Avec: Anja Penkl , Janine Reunert , Otfried M Debus , Anna Homann , Ulrike Och , Stephan Rust , Thorsten Marquardt

In vitro cytoxicity profile of e-cigarette liquid samples on primary human bronchial epithelial cells.

Drug testing and analysis

Avec: Massimo Caruso , Alfio Distefano , Rosalia Emma , Pietro Zuccarello , Chiara Copat , Margherita Ferrante , Giuseppe Carota , Roberta Pulvirenti , Riccardo Polosa , Gesualdo Antonio Missale , Sonja Rust , Giuseppina Raciti , Giovanni Li Volti

Characterization of Electronic Health Record Use Outside Scheduled Clinic Hours Among Primary Care Pediatricians: Retrospective Descriptive Task Analysis of Electronic Health Record Access Log Data.

JMIR medical informatics

Avec: Selasi Attipoe , Jeffrey Hoffman , Steve Rust , Yungui Huang , John A Barnard , Sharon Schweikhart , Jennifer L Hefner , Daniel M Walker , Simon Linwood

A decade of excellent transplant survival in children with inherited metabolic diseases: A report from a single metabolic transplant centre in Europe.

Blood cell therapy

Avec: Su Han Lum , Andrew Will , Heather J Church , Jean Mercer , Karen L Tylee , Kay Poulton , Wendy Odgen , Helena Lee , Alison Logan , Mary Coussons , Tasneem Khalid , Denise Bonney , Stewart Rust , Prashant Hiwarkar , Simon A Jones , Robert F Wynn

Transient N-glycosylation abnormalities likely due to a de novo loss-of-function mutation in the delta subunit of coat protein I.

American journal of medical genetics. Part A

Avec: Janine Reunert , Stephan Rust , Marianne Grüneberg , Anja Seelhöfer , Daniel Kurz , Volker Ocker , Dorothea Weber , Ralph Fingerhut , Thorsten Marquardt

TRAPγ-CDG shows asymmetric glycosylation and an effect on processing of proteins required in higher organisms.

Journal of medical genetics

Avec: Sabine Dittner-Moormann , Charles Marques Lourenco , Janine Reunert , Ryuichi Nishinakamura , Satomi S Tanaka , Claudius Werner , Volker Debus , Klaus-Peter Zimmer , Gabriele Wetzel , Hassan Y Naim , Yoshinao Wada , Stephan Rust , Thorsten Marquardt

Réseau de co-auteurs

Janine Reunert 6 collaborations

Stephan Rust 6 collaborations

Thorsten Marquardt 6 collaborations

Steve Rust 3 collaborations

Stewart Rust 2 collaborations

Yungui Huang 2 collaborations

Anja Seelhöfer 2 collaborations

Julien H Park 1 collaboration

Jiraporn Ousingsawat 1 collaboration

Inês Cabrita 1 collaboration

Ruth E Bettels 1 collaboration

Jörg Große-Onnebrink 1 collaboration

Christian Schmalstieg 1 collaboration

Saskia Biskup 1 collaboration

Rainer Schreiber 1 collaboration

Karl Kunzelmann 1 collaboration

A Broomfield 1 collaboration

J Davison 1 collaboration

J Roberts 1 collaboration

C Stewart 1 collaboration

P Hensman 1 collaboration

C Beesley 1 collaboration

K Tylee 1 collaboration

S Rust 1 collaboration

B Schwahn 1 collaboration

E Jameson 1 collaboration

S Vijay 1 collaboration

S Santra 1 collaboration

S Sreekantam 1 collaboration

U Ramaswami 1 collaboration

A Chakrapani 1 collaboration

J Raiman 1 collaboration

M A Cleary 1 collaboration

S A Jones 1 collaboration

Sunjay Nunley 1 collaboration

Peter Glynn 1 collaboration

Jorge Vidaurre 1 collaboration

Dara V F Albert 1 collaboration

Anup D Patel 1 collaboration

Johanna H van der Lee 1 collaboration

Jonathan Morton 1 collaboration

Heather R Adams 1 collaboration

Lorne Clarke 1 collaboration

Julie B Eisengart 1 collaboration

Maria L Escolar 1 collaboration

Roberto Giugliani 1 collaboration

Paul Harmatz 1 collaboration

Melissa Hogan 1 collaboration

Shauna Kearney 1 collaboration

Joseph Muenzer 1 collaboration

Nicole Muschol 1 collaboration

Benjamin R Saville 1 collaboration

Margaret Semrud-Clikeman 1 collaboration

Raymond Wang 1 collaboration

Elsa Shapiro 1 collaboration

Olivia J S Macleod 1 collaboration

Jean-Mathieu Bart 1 collaboration

Paula MacGregor 1 collaboration

Lori Peacock 1 collaboration

Nicholas J Savill 1 collaboration

Svenja Hester 1 collaboration

Sophie Ravel 1 collaboration

Jack D Sunter 1 collaboration

Camilla Trevor 1 collaboration

Tristan J Vaughan 1 collaboration

Ralph Minter 1 collaboration

Shabaz Mohammed 1 collaboration

Wendy Gibson 1 collaboration

Martin C Taylor 1 collaboration

Matthew K Higgins 1 collaboration

Mark Carrington 1 collaboration

Alijda van den Heuvel 1 collaboration

Syed-Amad Hussain 1 collaboration

Emre Sezgin 1 collaboration

Katelyn Krivchenia 1 collaboration

John Luna 1 collaboration

Aziza Miriam Belkheir 1 collaboration

Christiane Elpers 1 collaboration

Lambert van den Heuvel 1 collaboration

Richard Rodenburg 1 collaboration

Astrid Jeibmann 1 collaboration

Michael Frosch 1 collaboration

Anja Penkl 1 collaboration

Otfried M Debus 1 collaboration

Anna Homann 1 collaboration

Ulrike Och 1 collaboration

Massimo Caruso 1 collaboration

Alfio Distefano 1 collaboration

Rosalia Emma 1 collaboration

Pietro Zuccarello 1 collaboration

Chiara Copat 1 collaboration

Margherita Ferrante 1 collaboration

Giuseppe Carota 1 collaboration

Roberta Pulvirenti 1 collaboration

Riccardo Polosa 1 collaboration

Gesualdo Antonio Missale 1 collaboration

Sonja Rust 1 collaboration

Giuseppina Raciti 1 collaboration

Giovanni Li Volti 1 collaboration

Selasi Attipoe 1 collaboration

Jeffrey Hoffman 1 collaboration

John A Barnard 1 collaboration

Sharon Schweikhart 1 collaboration

Jennifer L Hefner 1 collaboration

Daniel M Walker 1 collaboration

Simon Linwood 1 collaboration

Su Han Lum 1 collaboration

Andrew Will 1 collaboration

Heather J Church 1 collaboration

Jean Mercer 1 collaboration

Karen L Tylee 1 collaboration

Kay Poulton 1 collaboration

Wendy Odgen 1 collaboration

Helena Lee 1 collaboration

Alison Logan 1 collaboration

Mary Coussons 1 collaboration

Tasneem Khalid 1 collaboration

Denise Bonney 1 collaboration

Prashant Hiwarkar 1 collaboration

Simon A Jones 1 collaboration

Robert F Wynn 1 collaboration

Marianne Grüneberg 1 collaboration

Daniel Kurz 1 collaboration

Volker Ocker 1 collaboration

Dorothea Weber 1 collaboration

Ralph Fingerhut 1 collaboration

Sabine Dittner-Moormann 1 collaboration

Charles Marques Lourenco 1 collaboration

Ryuichi Nishinakamura 1 collaboration

Satomi S Tanaka 1 collaboration

Claudius Werner 1 collaboration

Volker Debus 1 collaboration

Klaus-Peter Zimmer 1 collaboration

Gabriele Wetzel 1 collaboration

Hassan Y Naim 1 collaboration

Yoshinao Wada 1 collaboration