Sheila Palmer-Smith

Affiliations

Institute of Medical Genetics, Cardiff and Vale University Health Board, University Hospital of Wales, Cardiff, UK.

Publications (5)

The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.

Journal of medical genetics

Avec: Charlie F Rowlands , Alice Garrett , Sophie Allen , Miranda Durkie , George J Burghel , Rachel Robinson , Alison Callaway , Joanne Field , Bethan Frugtniet , Sheila Palmer-Smith , Jonathan Grant , Judith Pagan , Trudi McDevitt , Terri P McVeigh , Helen Hanson , Nicola Whiffin , Michael Jones , Clare Turnbull , Auteur inconnu

The detection of germline and somatic BRCA1/2 genetic variants through parallel testing of patients with high-grade serous ovarian cancer: a national retrospective audit.

BJOG : an international journal of obstetrics and gynaecology

Avec: B Frugtniet , S Morgan , A Murray , S Palmer-Smith , R White , R Jones , L Hanna , C Fuller , E Hudson , A Mullard , A E Quinton

Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.

Journal of medical genetics

Avec: Alice Garrett , Alison Callaway , Miranda Durkie , Cankut Cubuk , Mary Alikian , George J Burghel , Rachel Robinson , Louise Izatt , Sabrina Talukdar , Lucy Side , Treena Cranston , Sheila Palmer-Smith , Diana Baralle , Ian R Berry , James Drummond , Andrew J Wallace , Gail Norbury , Diana M Eccles , Sian Ellard , Fiona Lalloo , D Gareth Evans , Emma Woodward , Marc Tischkowitz , Helen Hanson , Clare Turnbull , Auteur inconnu

Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey.

Journal of medical genetics

Avec: Sophie Allen , Lucy Loong , Alice Garrett , Bethany Torr , Miranda Durkie , James Drummond , Alison Callaway , Rachel Robinson , George J Burghel , Helen Hanson , Joanne Field , Trudi McDevitt , Terri P McVeigh , Tina Bedenham , Christopher Bowles , Kirsty Bradshaw , Claire Brooks , Samantha Butler , Juan Carlos Del Rey Jimenez , Lorraine Hawkes , Victoria Stinton , Suzanne MacMahon , Martina Owens , Sheila Palmer-Smith , Kenneth Smith , James Tellez , Mikel Valganon-Petrizan , Erik Waskiewicz , Michael Yau , Diana M Eccles , Marc Tischkowitz , Shilpi Goel , Fiona McRonald , Antonis C Antoniou , Eva Morris , Steven Hardy , Clare Turnbull

Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.

European journal of human genetics : EJHG

Avec: Claire Forde , Emma Burkitt-Wright , Peter D Turnpenny , Eric Haan , John Ealing , Sahar Mansour , Muriel Holder , Nayana Lahiri , Abhijit Dixit , Annie Procter , Laurence Pacot , Dominique Vidaud , Yline Capri , Marion Gerard , Hélène Dollfus , Elise Schaefer , Chloé Quelin , Sabine Sigaudy , Tiffany Busa , Gabriella Vera , Lena Damaj , Ludwine Messiaen , David A Stevenson , Peter Davies , Sheila Palmer-Smith , Alison Callaway , Pierre Wolkenstein , Eric Pasmant , Meena Upadhyaya

Réseau de co-auteurs

Alison Callaway 4 collaborations

Alice Garrett 3 collaborations

Miranda Durkie 3 collaborations

George J Burghel 3 collaborations

Rachel Robinson 3 collaborations

Helen Hanson 3 collaborations

Clare Turnbull 3 collaborations

Sophie Allen 2 collaborations

Joanne Field 2 collaborations

Trudi McDevitt 2 collaborations

Terri P McVeigh 2 collaborations

None None 2 collaborations

James Drummond 2 collaborations

Diana M Eccles 2 collaborations

Marc Tischkowitz 2 collaborations

Charlie F Rowlands 1 collaboration

Bethan Frugtniet 1 collaboration

Jonathan Grant 1 collaboration

Judith Pagan 1 collaboration

Nicola Whiffin 1 collaboration

Michael Jones 1 collaboration

B Frugtniet 1 collaboration

S Morgan 1 collaboration

A Murray 1 collaboration

S Palmer-Smith 1 collaboration

R White 1 collaboration

R Jones 1 collaboration

L Hanna 1 collaboration

C Fuller 1 collaboration

E Hudson 1 collaboration

A Mullard 1 collaboration

A E Quinton 1 collaboration

Cankut Cubuk 1 collaboration

Mary Alikian 1 collaboration

Louise Izatt 1 collaboration

Sabrina Talukdar 1 collaboration

Lucy Side 1 collaboration

Treena Cranston 1 collaboration

Diana Baralle 1 collaboration

Ian R Berry 1 collaboration

Andrew J Wallace 1 collaboration

Gail Norbury 1 collaboration

Sian Ellard 1 collaboration

Fiona Lalloo 1 collaboration

D Gareth Evans 1 collaboration

Emma Woodward 1 collaboration

Lucy Loong 1 collaboration

Bethany Torr 1 collaboration

Tina Bedenham 1 collaboration

Christopher Bowles 1 collaboration

Kirsty Bradshaw 1 collaboration

Claire Brooks 1 collaboration

Samantha Butler 1 collaboration

Juan Carlos Del Rey Jimenez 1 collaboration

Lorraine Hawkes 1 collaboration

Victoria Stinton 1 collaboration

Suzanne MacMahon 1 collaboration

Martina Owens 1 collaboration

Kenneth Smith 1 collaboration

James Tellez 1 collaboration

Mikel Valganon-Petrizan 1 collaboration

Erik Waskiewicz 1 collaboration

Michael Yau 1 collaboration

Shilpi Goel 1 collaboration

Fiona McRonald 1 collaboration

Antonis C Antoniou 1 collaboration

Eva Morris 1 collaboration

Steven Hardy 1 collaboration

Claire Forde 1 collaboration

Emma Burkitt-Wright 1 collaboration

Peter D Turnpenny 1 collaboration

Eric Haan 1 collaboration

John Ealing 1 collaboration

Sahar Mansour 1 collaboration

Muriel Holder 1 collaboration

Nayana Lahiri 1 collaboration

Abhijit Dixit 1 collaboration

Annie Procter 1 collaboration

Laurence Pacot 1 collaboration

Dominique Vidaud 1 collaboration

Yline Capri 1 collaboration

Marion Gerard 1 collaboration

Hélène Dollfus 1 collaboration

Elise Schaefer 1 collaboration

Chloé Quelin 1 collaboration

Sabine Sigaudy 1 collaboration

Tiffany Busa 1 collaboration

Gabriella Vera 1 collaboration

Lena Damaj 1 collaboration

Ludwine Messiaen 1 collaboration

David A Stevenson 1 collaboration

Peter Davies 1 collaboration

Pierre Wolkenstein 1 collaboration

Eric Pasmant 1 collaboration

Meena Upadhyaya 1 collaboration