Researcher
Sian Ellard
Royal Devon and Exeter NHS Foundation Trust
Statistics
7 papers found
All papers authored by Sian Ellard
Refreshing results…
2022
Thomas W. Laver 
,
Elisa De Franco ,
Matthew B. Johnson ,
Kashyap A. Patel ,
Sian Ellard ,
Michael N. Weedon ,
Sarah E. Flanagan ,
Matthew N. Wakeling
,
Elisa De Franco ,
Matthew B. Johnson ,
Kashyap A. Patel ,
Sian Ellard ,
Michael N. Weedon ,
Sarah E. Flanagan ,
Matthew N. Wakeling
SavvyCNV: Genome-wide CNV calling from off-target reads
Download from doi.org
2021
Schanzer A.,
Anne Schänzer ,
Melanie T. Achleitner,
Achleitner Mt,
Dietrich Trümbach ,
Trumbach D.,
Laurence Hubert ,
Hubert L.,
Arnold Munnich ,
Munnich A.,
Barbara Ahlemeyer,
Maha M. AlAbdulrahim,
Ahlemeyer B.,
Philipp A. Greif ,
AlAbdulrahim Mm
and 47 other authors
,
Melanie T. Achleitner,
Achleitner Mt,
Dietrich Trümbach ,
Trumbach D.,
Laurence Hubert ,
Hubert L.,
Arnold Munnich ,
Munnich A.,
Barbara Ahlemeyer,
Maha M. AlAbdulrahim,
Ahlemeyer B.,
Philipp A. Greif ,
AlAbdulrahim Mm
and 47 other authors
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism
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2020
Elisa De Franco ,
Cai Y.,
Lithovius V.,
Laver Tw,
Maria Lytrivi ,
Sawatani T.,
Hazem Ibrahim ,
Matthew N. Wakeling,
Hossam Montaser,
Godbole T.,
Senee V.,
Otonkoski T.,
Federica Fantuzzi,
De Franco E.,
Kashyap Patel
and 63 other authors
,
Cai Y.,
Lithovius V.,
Laver Tw,
Maria Lytrivi ,
Sawatani T.,
Hazem Ibrahim ,
Matthew N. Wakeling,
Hossam Montaser,
Godbole T.,
Senee V.,
Otonkoski T.,
Federica Fantuzzi,
De Franco E.,
Kashyap Patel
and 63 other authors
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress
Download from doi.org
Indraneel Banerjee,
Senthil Senniappan,
Thomas W. Laver ,
Richard Caswell ,
Martin Zenker ,
Klaus Mohnike ,
Tim Cheetham,
Matthew N. Wakeling ,
Dunia Ismail,
Belinda Lennerz,
Miranda Splitt,
Merih Berberoğlu ,
Susann Empting,
Martin Wabitsch ,
Simone Pötzsch
and 7 other authors
Download from wellcomeopenresearch.org
,
Richard Caswell ,
Martin Zenker ,
Klaus Mohnike ,
Tim Cheetham,
Matthew N. Wakeling ,
Dunia Ismail,
Belinda Lennerz,
Miranda Splitt,
Merih Berberoğlu ,
Susann Empting,
Martin Wabitsch ,
Simone Pötzsch
and 7 other authors
Download from wellcomeopenresearch.org
Elisa De Franco ,
Cécile Saint‐Martin,
Klaus Brusgaard,
Amy E. Knight Johnson,
Lydia Aguilar‐Bryan,
Pamela Bowman ,
Jean‐Baptiste Arnoux,
Annette Rønholt Larsen,
May Sanyoura,
Siri Atma W. Greeley ,
Raúl Calzada‐León,
Bradley Harman,
Jayne A. L. Houghton ,
Elisa Nishimura‐Meguro,
Thomas W. Laver
and 5 other authors
Download from api.wiley.com
,
Cécile Saint‐Martin,
Klaus Brusgaard,
Amy E. Knight Johnson,
Lydia Aguilar‐Bryan,
Pamela Bowman ,
Jean‐Baptiste Arnoux,
Annette Rønholt Larsen,
May Sanyoura,
Siri Atma W. Greeley ,
Raúl Calzada‐León,
Bradley Harman,
Jayne A. L. Houghton ,
Elisa Nishimura‐Meguro,
Thomas W. Laver
and 5 other authors
Download from api.wiley.com
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