Publications by authors named "Ana Rath"

28Publications

The Human Phenotype Ontology in 2021.

Authors:
Sebastian Köhler Michael Gargano Nicolas Matentzoglu Leigh C Carmody David Lewis-Smith Nicole A Vasilevsky Daniel Danis Ganna Balagura Gareth Baynam Amy M Brower Tiffany J Callahan Christopher G Chute Johanna L Est Peter D Galer Shiva Ganesan Matthias Griese Matthias Haimel Julia Pazmandi Marc Hanauer Nomi L Harris Michael J Hartnett Maximilian Hastreiter Fabian Hauck Yongqun He Tim Jeske Hugh Kearney Gerhard Kindle Christoph Klein Katrin Knoflach Roland Krause David Lagorce Julie A McMurry Jillian A Miller Monica C Munoz-Torres Rebecca L Peters Christina K Rapp Ana M Rath Shahmir A Rind Avi Z Rosenberg Michael M Segal Markus G Seidel Damian Smedley Tomer Talmy Yarlalu Thomas Samuel A Wiafe Julie Xian Zafer Yüksel Ingo Helbig Christopher J Mungall Melissa A Haendel Peter N Robinson

Nucleic Acids Res 2021 Jan;49(D1):D1207-D1217

Monarch Initiative.

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January 2021

Reply to E. Vicente et al.

Authors:
Ana Rath Deborah M Lambert Annie Olry Charlotte Rodwell Yann Le Cam

Eur J Hum Genet 2020 Dec 1. Epub 2020 Dec 1.

Eurordis - Rare Diseases Europe, Plateforme Maladies Rares, Paris, France.

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December 2020

Correction: Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes.

Authors:
Willie H Chang Pouria Mashouri Alexander X Lozano Brittney Johnstone Mia Husić Annie Olry Sylvie Maiella Tugce B Balci Sarah L Sawyer Peter N Robinson Ana Rath Michael Brudno

Genet Med 2020 Aug;22(8):1427

Centre for Computational Medicine, The Hospital For Sick Children, Toronto, ON, Canada.

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August 2020

Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes.

Authors:
Willie H Chang Pouria Mashouri Alexander X Lozano Brittney Johnstone Mia Husić Annie Olry Sylvie Maiella Tugce B Balci Sarah L Sawyer Peter N Robinson Ana Rath Michael Brudno

Genet Med 2020 Aug 5;22(8):1391-1400. Epub 2020 May 5.

Centre for Computational Medicine, The Hospital For Sick Children, Toronto, ON, Canada.

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August 2020

How many rare diseases are there?

Authors:
Melissa Haendel Nicole Vasilevsky Deepak Unni Cristian Bologa Nomi Harris Heidi Rehm Ada Hamosh Gareth Baynam Tudor Groza Julie McMurry Hugh Dawkins Ana Rath Courtney Thaxon Giovanni Bocci Marcin P Joachimiak Sebastian Köhler Peter N Robinson Chris Mungall Tudor I Oprea

Nat Rev Drug Discov 2020 02;19(2):77-78

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February 2020

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.

Authors:
Stéphanie Nguengang Wakap Deborah M Lambert Annie Olry Charlotte Rodwell Charlotte Gueydan Valérie Lanneau Daniel Murphy Yann Le Cam Ana Rath

Eur J Hum Genet 2020 02 16;28(2):165-173. Epub 2019 Sep 16.

Inserm, US14-Orphanet, Paris, France.

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February 2020

Correction to: An ontological foundation for ocular phenotypes and rare eye diseases.

Authors:
Panagiotis I Sergouniotis Emmanuel Maxime Dorothée Leroux Annie Olry Rachel Thompson Ana Rath Peter N Robinson Hélène Dollfus

Orphanet J Rare Dis 2019 Aug 15;14(1):200. Epub 2019 Aug 15.

Centre for Rare Eye Diseases CARGO, SENSGENE FSMR Network, Strasbourg University Hospital, Strasbourg, France.

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August 2019

An ontological foundation for ocular phenotypes and rare eye diseases.

Authors:
Panagiotis I Sergouniotis Emmanuel Maxime Dorothée Leroux Annie Olry Rachel Thompson Ana Rath Peter N Robinson Hélène Dollfus

Orphanet J Rare Dis 2019 01 9;14(1). Epub 2019 Jan 9.

Centre for Rare Eye Diseases CARGO, SENSGENE FSMR Network, Strasbourg University Hospital, Strasbourg, France.

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January 2019

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Authors:
Sebastian Köhler Leigh Carmody Nicole Vasilevsky Julius O B Jacobsen Daniel Danis Jean-Philippe Gourdine Michael Gargano Nomi L Harris Nicolas Matentzoglu Julie A McMurry David Osumi-Sutherland Valentina Cipriani James P Balhoff Tom Conlin Hannah Blau Gareth Baynam Richard Palmer Dylan Gratian Hugh Dawkins Michael Segal Anna C Jansen Ahmed Muaz Willie H Chang Jenna Bergerson Stanley J F Laulederkind Zafer Yüksel Sergi Beltran Alexandra F Freeman Panagiotis I Sergouniotis Daniel Durkin Andrea L Storm Marc Hanauer Michael Brudno Susan M Bello Murat Sincan Kayli Rageth Matthew T Wheeler Renske Oegema Halima Lourghi Maria G Della Rocca Rachel Thompson Francisco Castellanos James Priest Charlotte Cunningham-Rundles Ayushi Hegde Ruth C Lovering Catherine Hajek Annie Olry Luigi Notarangelo Morgan Similuk Xingmin A Zhang David Gómez-Andrés Hanns Lochmüller Hélène Dollfus Sergio Rosenzweig Shruti Marwaha Ana Rath Kathleen Sullivan Cynthia Smith Joshua D Milner Dorothée Leroux Cornelius F Boerkoel Amy Klion Melody C Carter Tudor Groza Damian Smedley Melissa A Haendel Chris Mungall Peter N Robinson

Nucleic Acids Res 2019 01;47(D1):D1018-D1027

Monarch Initiative, monarchinitiative.org.

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January 2019

Plain-language medical vocabulary for precision diagnosis.

Authors:
Nicole A Vasilevsky Erin D Foster Mark E Engelstad Leigh Carmody Matt Might Chip Chambers Hugh J S Dawkins Janine Lewis Maria G Della Rocca Michelle Snyder Cornelius F Boerkoel Ana Rath Sharon F Terry Alastair Kent Beverly Searle Gareth Baynam Erik Jones Pam Gavin Michael Bamshad Jessica Chong Tudor Groza David Adams Adam C Resnick Allison P Heath Chris Mungall Ingrid A Holm Kayli Rageth Catherine A Brownstein Kent Shefchek Julie A McMurry Peter N Robinson Sebastian Köhler Melissa A Haendel

Nat Genet 2018 04;50(4):474-476

Oregon Clinical & Translational Research Institute, Oregon Health & Science University, Portland, OR, USA.

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April 2018

Harmonising phenomics information for a better interoperability in the rare disease field.

Authors:
Sylvie Maiella Annie Olry Marc Hanauer Valérie Lanneau Halima Lourghi Bruno Donadille Charlotte Rodwell Sebastian Köhler Dominik Seelow Simon Jupp Helen Parkinson Tudor Groza Michael Brudno Peter N Robinson Ana Rath

Eur J Med Genet 2018 Nov 7;61(11):706-714. Epub 2018 Feb 7.

INSERM, US14 - Orphanet, Plateforme Maladies Rares, 75014 Paris, France. Electronic address:

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November 2018

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.

Authors:
Gareth Baynam Faye Bowman Karla Lister Caroline E Walker Nicholas Pachter Jack Goldblatt Kym M Boycott William A Gahl Kenjiro Kosaki Takeya Adachi Ken Ishii Trinity Mahede Fiona McKenzie Sharron Townshend Jennie Slee Cathy Kiraly-Borri Anand Vasudevan Anne Hawkins Stephanie Broley Lyn Schofield Hedwig Verhoef Tudor Groza Andreas Zankl Peter N Robinson Melissa Haendel Michael Brudno John S Mattick Marcel E Dinger Tony Roscioli Mark J Cowley Annie Olry Marc Hanauer Fowzan S Alkuraya Domenica Taruscio Manuel Posada de la Paz Hanns Lochmüller Kate Bushby Rachel Thompson Victoria Hedley Paul Lasko Kym Mina John Beilby Cynthia Tifft Mark Davis Nigel G Laing Daria Julkowska Yann Le Cam Sharon F Terry Petra Kaufmann Iiro Eerola Irene Norstedt Ana Rath Makoto Suematsu Stephen C Groft Christopher P Austin Ruxandra Draghia-Akli Tarun S Weeramanthri Caron Molster Hugh J S Dawkins

Adv Exp Med Biol 2017 ;1031:55-94

School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Western Australia, Australia.

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June 2018

A systematic literature review of evidence-based clinical practice for rare diseases: what are the perceived and real barriers for improving the evidence and how can they be overcome?

Authors:
Ana Rath Valérie Salamon Sandra Peixoto Virginie Hivert Martine Laville Berenice Segrestin Edmund A M Neugebauer Michaela Eikermann Vittorio Bertele Silvio Garattini Jørn Wetterslev Rita Banzi Janus C Jakobsen Snezana Djurisic Christine Kubiak Jacques Demotes-Mainard Christian Gluud

Trials 2017 Nov 22;18(1):556. Epub 2017 Nov 22.

Copenhagen Trial Unit, Centre for Clinical Intervention Research, Department 7812, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

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November 2017

Specific barriers to the conduct of randomised clinical trials on medical devices.

Authors:
Edmund A M Neugebauer Ana Rath Sunya-Lee Antoine Michaela Eikermann Doerthe Seidel Carsten Koenen Esther Jacobs Dawid Pieper Martine Laville Séverine Pitel Cecilia Martinho Snezana Djurisic Jacques Demotes-Mainard Christine Kubiak Vittorio Bertele Janus C Jakobsen Silvio Garattini Christian Gluud

Trials 2017 09 13;18(1):427. Epub 2017 Sep 13.

Copenhagen Trial Unit, Centre for Clinical Intervention Research, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

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September 2017

Evidence-based practice within nutrition: what are the barriers for improving the evidence and how can they be dealt with?

Authors:
Martine Laville Berenice Segrestin Maud Alligier Cristina Ruano-Rodríguez Lluis Serra-Majem Michael Hiesmayr Annemie Schols Carlo La Vecchia Yves Boirie Ana Rath Edmund A M Neugebauer Silvio Garattini Vittorio Bertele Christine Kubiak Jacques Demotes-Mainard Janus C Jakobsen Snezana Djurisic Christian Gluud

Trials 2017 09 11;18(1):425. Epub 2017 Sep 11.

Copenhagen Trial Unit, Centre for Clinical Intervention Research, Department 7812, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, DK 2100, Copenhagen, Denmark.

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September 2017

Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective.

Authors:
Christopher P Austin Christine M Cutillo Lilian P L Lau Anneliene H Jonker Ana Rath Daria Julkowska David Thomson Sharon F Terry Béatrice de Montleau Diego Ardigò Virginie Hivert Kym M Boycott Gareth Baynam Petra Kaufmann Domenica Taruscio Hanns Lochmüller Makoto Suematsu Carlo Incerti Ruxandra Draghia-Akli Irene Norstedt Lu Wang Hugh J S Dawkins

Clin Transl Sci 2018 01 23;11(1):21-27. Epub 2017 Oct 23.

Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.

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January 2018

Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective.

Authors:
Hugh J S Dawkins Ruxandra Draghia-Akli Paul Lasko Lilian P L Lau Anneliene H Jonker Christine M Cutillo Ana Rath Kym M Boycott Gareth Baynam Hanns Lochmüller Petra Kaufmann Yann Le Cam Virginie Hivert Christopher P Austin

Clin Transl Sci 2018 01 23;11(1):11-20. Epub 2017 Oct 23.

National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA.

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January 2018

Barriers to the conduct of randomised clinical trials within all disease areas.

Authors:
Snezana Djurisic Ana Rath Sabrina Gaber Silvio Garattini Vittorio Bertele Sandra-Nadia Ngwabyt Virginie Hivert Edmund A M Neugebauer Martine Laville Michael Hiesmayr Jacques Demotes-Mainard Christine Kubiak Janus C Jakobsen Christian Gluud

Trials 2017 08 1;18(1):360. Epub 2017 Aug 1.

Copenhagen Trial Unit, Centre for Clinical Intervention Research, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

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August 2017

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

Authors:
Kym M Boycott Ana Rath Jessica X Chong Taila Hartley Fowzan S Alkuraya Gareth Baynam Anthony J Brookes Michael Brudno Angel Carracedo Johan T den Dunnen Stephanie O M Dyke Xavier Estivill Jack Goldblatt Catherine Gonthier Stephen C Groft Ivo Gut Ada Hamosh Philip Hieter Sophie Höhn Matthew E Hurles Petra Kaufmann Bartha M Knoppers Jeffrey P Krischer Milan Macek Gert Matthijs Annie Olry Samantha Parker Justin Paschall Anthony A Philippakis Heidi L Rehm Peter N Robinson Pak-Chung Sham Rumen Stefanov Domenica Taruscio Divya Unni Megan R Vanstone Feng Zhang Han Brunner Michael J Bamshad Hanns Lochmüller

Am J Hum Genet 2017 May;100(5):695-705

John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.

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May 2017

Clinical Practice Guidelines for Rare Diseases: The Orphanet Database.

Authors:
Sonia Pavan Kathrin Rommel María Elena Mateo Marquina Sophie Höhn Valérie Lanneau Ana Rath

PLoS One 2017 18;12(1):e0170365. Epub 2017 Jan 18.

Inserm, US14 - Orphanet, Paris, France.

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August 2017

The Human Phenotype Ontology in 2017.

Authors:
Sebastian Köhler Nicole A Vasilevsky Mark Engelstad Erin Foster Julie McMurry Ségolène Aymé Gareth Baynam Susan M Bello Cornelius F Boerkoel Kym M Boycott Michael Brudno Orion J Buske Patrick F Chinnery Valentina Cipriani Laureen E Connell Hugh J S Dawkins Laura E DeMare Andrew D Devereau Bert B A de Vries Helen V Firth Kathleen Freson Daniel Greene Ada Hamosh Ingo Helbig Courtney Hum Johanna A Jähn Roger James Roland Krause Stanley J F Laulederkind Hanns Lochmüller Gholson J Lyon Soichi Ogishima Annie Olry Willem H Ouwehand Nikolas Pontikos Ana Rath Franz Schaefer Richard H Scott Michael Segal Panagiotis I Sergouniotis Richard Sever Cynthia L Smith Volker Straub Rachel Thompson Catherine Turner Ernest Turro Marijcke W M Veltman Tom Vulliamy Jing Yu Julie von Ziegenweidt Andreas Zankl Stephan Züchner Tomasz Zemojtel Julius O B Jacobsen Tudor Groza Damian Smedley Christopher J Mungall Melissa Haendel Peter N Robinson

Nucleic Acids Res 2017 01 28;45(D1):D865-D876. Epub 2016 Nov 28.

The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA

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January 2017

The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort.

Authors:
Caroline E Walker Trinity Mahede Geoff Davis Laura J Miller Jennifer Girschik Kate Brameld Wenxing Sun Ana Rath Ségolène Aymé Stephen R Zubrick Gareth S Baynam Caron Molster Hugh J S Dawkins Tarun S Weeramanthri

Genet Med 2017 05 22;19(5):546-552. Epub 2016 Sep 22.

Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.

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May 2017

Evidence-based clinical practice: Overview of threats to the validity of evidence and how to minimise them.

Authors:
Silvio Garattini Janus C Jakobsen Jørn Wetterslev Vittorio Bertelé Rita Banzi Ana Rath Edmund A M Neugebauer Martine Laville Yvonne Masson Virginie Hivert Michaela Eikermann Burc Aydin Sandra Ngwabyt Cecilia Martinho Chiara Gerardi Cezary A Szmigielski Jacques Demotes-Mainard Christian Gluud

Eur J Intern Med 2016 Jul 6;32:13-21. Epub 2016 May 6.

The Copenhagen Trial Unit, Centre for Clinical Intervention Research, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. Electronic address:

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July 2016

Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding.

Authors:
Ségolène Aymé Bertrand Bellet Ana Rath

Orphanet J Rare Dis 2015 Mar 26;10:35. Epub 2015 Mar 26.

INSERM, US14 - Orphanet, Paris, France, Rare Diseases Platform, 96 rue Didot, Paris, France.

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March 2015

Ontological phenotype standards for neurogenetics.

Authors:
Sebastian Köhler Sandra C Doelken Ana Rath Ségolène Aymé Peter N Robinson

Hum Mutat 2012 Sep 2;33(9):1333-9. Epub 2012 Jul 2.

Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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September 2012

Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users.

Authors:
Ana Rath Annie Olry Ferdinand Dhombres Maja Miličić Brandt Bruno Urbero Segolene Ayme

Hum Mutat 2012 May 6;33(5):803-8. Epub 2012 Apr 6.

Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 96 rue Didot,Paris, France.

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May 2012

CEMARA an information system for rare diseases.

Authors:
Paul Landais Claude Messiaen Ana Rath Loïc Le Mignot Eric Dufour Mohamed Ben Said Jean-Philippe Jais Laurent Toubiana Geneviève Baujat Eva Bourdon-Lanoy Marion Gérard-Blanluet Christine Bodemer Rémi Salomon Ségolène Aymé Martine Le Merrer Alain Verloes

Stud Health Technol Inform 2010 ;160(Pt 1):481-5

Paris Descartes University, Faculty of Medicine, AP-HP, EA 4067, Department of biostatistics and computer sciences, and Department of genetics, Dermatology unit Necker-Enfants Malades Hospital, Paris, France.

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December 2010

CEMARA: a Web dynamic application within a N-tier architecture for rare diseases.

Authors:
Claude Messiaen Loïc Le Mignot Ana Rath Jean-Baptiste Richard Eric Dufour Mohamed Ben Said Jean-Philippe Jais Alain Verloes Martine Le Merrer Christine Bodemer Geneviève Baujat Marion Gerard-Blanluet Eva Bourdon-Lanoy Rémi Salomon Ségolène Ayme Paul Landais

Stud Health Technol Inform 2008 ;136:51-6

Paris Descartes University, UPRESS EA 4067 and Service de Biostatistique et d'Informatique Médicale, APHP - Necker-Enfants Malades Hospital, Paris - France.

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September 2008