Isabelle Delon

Affiliations

East Midlands and East of England NHS Genomic Laboratory Hub, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

Publications (4)

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Xiao Chen , Alba Sanchis-Juan , Courtney E French , Andrew J Connell , Zoya Kingsbury , Aditi Chawla , Aaron L Halpern , Ryan J Taft , Auteur inconnu , David R Bentley , Matthew E R Butchbach , F Lucy Raymond , Michael A Eberle

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.

Intensive care medicine

Avec: Courtney E French , Helen Dolling , Alba Sanchis-Juan , Olga Shamardina , Karyn Mégy , Stephen Abbs , Topun Austin , Sarah Bowdin , Ricardo G Branco , Helen Firth , Auteur inconnu , Auteur inconnu , David H Rowitch , F Lucy Raymond

A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G>T at the intron 9/exon 10 of the MAPT gene.

Neurobiology of aging

Avec: Diana A Olszewska , Conor Fearon , Christopher McGuigan , Terri P McVeigh , Henry Houlden , James M Polke , Brian Lawlor , Robert Coen , Michael Hutchinson , Michael Hutton , Alan Beausang , Francesca Brett , Ioanna Sevastou , Nuria Seto-Salvia , Rohan de Silva , Tim Lynch

Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.

HGG advances

Avec: Courtney E French , Helen Dolling , Karyn Mégy , Alba Sanchis-Juan , Ajay Kumar , Matthew Wakeling , Lucy Mallin , Shruti Agrawal , Topun Austin , Florence Walston , Soo-Mi Park , Alasdair Parker , Chinthika Piyasena , Kimberley Bradbury , Auteur inconnu , Sian Ellard , David H Rowitch , F Lucy Raymond

Réseau de co-auteurs

None None 4 collaborations

Alba Sanchis-Juan 3 collaborations

Courtney E French 3 collaborations

F Lucy Raymond 3 collaborations

Helen Dolling 2 collaborations

Karyn Mégy 2 collaborations

Topun Austin 2 collaborations

David H Rowitch 2 collaborations

Xiao Chen 1 collaboration

Andrew J Connell 1 collaboration

Zoya Kingsbury 1 collaboration

Aditi Chawla 1 collaboration

Aaron L Halpern 1 collaboration

Ryan J Taft 1 collaboration

David R Bentley 1 collaboration

Matthew E R Butchbach 1 collaboration

Michael A Eberle 1 collaboration

Olga Shamardina 1 collaboration

Stephen Abbs 1 collaboration

Sarah Bowdin 1 collaboration

Ricardo G Branco 1 collaboration

Helen Firth 1 collaboration

Diana A Olszewska 1 collaboration

Conor Fearon 1 collaboration

Christopher McGuigan 1 collaboration

Terri P McVeigh 1 collaboration

Henry Houlden 1 collaboration

James M Polke 1 collaboration

Brian Lawlor 1 collaboration

Robert Coen 1 collaboration

Michael Hutchinson 1 collaboration

Michael Hutton 1 collaboration

Alan Beausang 1 collaboration

Francesca Brett 1 collaboration

Ioanna Sevastou 1 collaboration

Nuria Seto-Salvia 1 collaboration

Rohan de Silva 1 collaboration

Tim Lynch 1 collaboration

Ajay Kumar 1 collaboration

Matthew Wakeling 1 collaboration

Lucy Mallin 1 collaboration

Shruti Agrawal 1 collaboration

Florence Walston 1 collaboration

Soo-Mi Park 1 collaboration

Alasdair Parker 1 collaboration

Chinthika Piyasena 1 collaboration

Kimberley Bradbury 1 collaboration

Sian Ellard 1 collaboration