All papers authored by Katherine Schon
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2021
Katherine R. Schon 
,
Rita Horvath ,
Wei Wei,
Claudia Calabrese,
Arianna Tucci,
Kristina Ibañez,
Thiloka Ratnaike,
Robert D. S. Pitceathly,
Enrico Bugiardini,
Rosaline Quinlivan,
Michael G. Hanna,
Emma Clement,
Emma Ashton,
John A. Sayer,
Paul Brennan
and 15 other authors
Download from doi.org
,
Rita Horvath ,
Wei Wei,
Claudia Calabrese,
Arianna Tucci,
Kristina Ibañez,
Thiloka Ratnaike,
Robert D. S. Pitceathly,
Enrico Bugiardini,
Rosaline Quinlivan,
Michael G. Hanna,
Emma Clement,
Emma Ashton,
John A. Sayer,
Paul Brennan
and 15 other authors
Download from doi.org
Ana Töpf,
Angela Pyle,
Leslie Matalonga,
Katherine Schon ,
Mridul Johari,
Steven Laurie,
Shuang Li,
Isabelle Nelson,
Ida Paramonov,
Sophia Peters,
Sivakumar Prasanth,
Peter Robinson,
Karolis Sablauskas,
Marco Savarese,
Wouter Steyaert
and 48 other authors
Download from www.nature.com
,
Mridul Johari,
Steven Laurie,
Shuang Li,
Isabelle Nelson,
Ida Paramonov,
Sophia Peters,
Sivakumar Prasanth,
Peter Robinson,
Karolis Sablauskas,
Marco Savarese,
Wouter Steyaert
and 48 other authors
Download from www.nature.com
Thiloka E. Ratnaike,
Daniel Greene,
Wei Wei,
Alba Sanchis-Juan,
Katherine R. Schon ,
Jelle van den Ameele,
Lucy Raymond,
Rita Horvath ,
Ernest Turro,
Patrick F. Chinnery
,
Jelle van den Ameele,
Lucy Raymond,
Rita Horvath ,
Ernest Turro,
Patrick F. Chinnery
MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases
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Ichrak Drissi ,
Emily Fletcher,
Ranad Shaheen,
Michael Nahorski,
Amal M. Alhashem,
Steve Lisgo ,
Alberto Fernández-Jaén ,
Katherine Schon ,
Kalthoum Tlili-Graiess,
Sarah F. Smithson,
Susan Lindsay,
Hayley J. Sharpe,
Fowzan S. Alkuraya ,
Geoff Woods
,
Emily Fletcher,
Ranad Shaheen,
Michael Nahorski,
Amal M. Alhashem,
Steve Lisgo ,
Alberto Fernández-Jaén ,
Katherine Schon ,
Kalthoum Tlili-Graiess,
Sarah F. Smithson,
Susan Lindsay,
Hayley J. Sharpe,
Fowzan S. Alkuraya ,
Geoff Woods
Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly
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Antonio Atalaia ,
Rachel Thompson,
Alberto Corvo,
Leigh Carmody,
Davide Piscia,
Leslie Matalonga,
Alfons Macaya,
Angela Lochmuller,
Bertrand Fontaine,
Birte Zurek,
Carles Hernandez-Ferrer ,
Carola Reinhard,
David Gómez-Andrés,
Jean-François Desaphy,
Katherine Schon
and 17 other authors
Download from doi.org
,
Rachel Thompson,
Alberto Corvo,
Leigh Carmody,
Davide Piscia,
Leslie Matalonga,
Alfons Macaya,
Angela Lochmuller,
Bertrand Fontaine,
Birte Zurek,
Carles Hernandez-Ferrer ,
Carola Reinhard,
David Gómez-Andrés,
Jean-François Desaphy,
Katherine Schon
and 17 other authors
Download from doi.org
2020
Antonio Atalaia ,
Rachel Thompson,
Alberto Corvo,
Leigh Carmody,
Davide Piscia,
Leslie Matalonga,
Alfons Macaya,
Angela Lochmuller,
Bertrand Fontaine,
Birte Zurek,
Carles Hernandez-Ferrer ,
Carola Reinhard,
Carola Rheinard,
David Gómez-Andrés,
Jean-François Desaphy
and 18 other authors
Download from link.springer.com
,
Rachel Thompson,
Alberto Corvo,
Leigh Carmody,
Davide Piscia,
Leslie Matalonga,
Alfons Macaya,
Angela Lochmuller,
Bertrand Fontaine,
Birte Zurek,
Carles Hernandez-Ferrer ,
Carola Reinhard,
Carola Rheinard,
David Gómez-Andrés,
Jean-François Desaphy
and 18 other authors
Download from link.springer.com
2018
Katherine Schon ,
Nienke Os,
Nicholas Oscroft,
Helen Baxendale,
Daniel Scoffings,
Julian Ray,
Mohnish Suri,
William P. Whitehouse,
Puja R. Mehta,
Natasha Everett,
Leonardo Bottolo,
Bart P. Warrenburg,
Philip J. Byrd,
Corry Weemaes,
Michel A. Willemsen
and 3 other authors
,
Nienke Os,
Nicholas Oscroft,
Helen Baxendale,
Daniel Scoffings,
Julian Ray,
Mohnish Suri,
William P. Whitehouse,
Puja R. Mehta,
Natasha Everett,
Leonardo Bottolo,
Bart P. Warrenburg,
Philip J. Byrd,
Corry Weemaes,
Michel A. Willemsen
and 3 other authors
Genotype, extrapyramidal features and severity of variant Ataxia‐Telangiectasia
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2010
Jia Liu Stevens,
Katherine Schon ,
Hasan Mukhtar
,
Hasan Mukhtar
An Unusual Case of Rectal Bleeding and Hemospermia
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1970
Katherine Schon
Whole genome sequencing helps pinpoint a genetic diagnosis for patients.
Download from doi.orgMissing publications? Search for publications with a matching author name.