All papers authored by Katherine Schon
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2023
Lindsay A. Wilson 
,
William L. Macken ,
Luke D. Perry,
Christopher J. Record ,
Katherine R. Schon ,
Rodrigo S. S. Frezatti ,
Sharika Raga ,
Kireshnee Naidu ,
Özlem Yayıcı Köken,
Ipek Polat,
Musambo M. Kapapa,
Natalia Dominik,
Stephanie Efthymiou ,
Heba Morsy ,
Melissa Nel
and 67 other authors
,
William L. Macken ,
Luke D. Perry,
Christopher J. Record ,
Katherine R. Schon ,
Rodrigo S. S. Frezatti ,
Sharika Raga ,
Kireshnee Naidu ,
Özlem Yayıcı Köken,
Ipek Polat,
Musambo M. Kapapa,
Natalia Dominik,
Stephanie Efthymiou ,
Heba Morsy ,
Melissa Nel
and 67 other authors
Neuromuscular disease genetics in under-represented populations: increasing data diversity
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2022
Wei Wei,
Katherine R. Schon ,
Greg Elgar ,
Andrea Orioli,
Melanie Tanguy ,
Adam Giess,
Marc Tischkowitz ,
Mark J. Caulfield ,
Patrick F. Chinnery
,
Greg Elgar ,
Andrea Orioli,
Melanie Tanguy ,
Adam Giess,
Marc Tischkowitz ,
Mark J. Caulfield ,
Patrick F. Chinnery
Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes
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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
Joeri K. van der Velde,
Antonio Vitobello,
Daniel Natera de Benito,
Bjarne Udd,
Liedewei Van de Vondel,
Jana Vandrovcova,
Irina Zaharieva,
Ana Töpf,
Mridul Johari,
Steven Laurie,
Angela Pyle,
Shuang Li,
Isabelle Nelson,
Ida Paramonov,
Sophia Peters
and 50 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 J. H. van Os,
Bart P. van de Warrenburg,
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
and 5 other authors
,
Nienke J. H. van Os,
Bart P. van de Warrenburg,
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
and 5 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.