Freya Boardman-Pretty

Affiliations

Genomics England Research Consortium, Genomics England, London, United Kingdom.

Publications (10)

Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variation.

Blood advances

Avec: Katie E Joyce , Ebun Onabanjo , Sheila Brownlow , Fadumo Nur , Kike Olupona , Kehinde Fakayode , Manveer Sroya , Geraldine A Thomas , Teena Ferguson , Julian Redhead , Carolyn M Millar , Nichola Cooper , D Mark Layton , Mark J Caulfield , Auteur inconnu , Claire L Shovlin

The diagnostic odyssey in children and adolescents with X-linked hypophosphataemia: population-based, case-control study.

The Journal of clinical endocrinology and metabolism

Avec: Ashley Kieran Clift , Hadley Mahon , Nadine Sawoky , M Zulf Mughal

A machine learning algorithm for the detection of paroxysmal nocturnal haemoglobinuria (PNH) in UK primary care electronic health records.

Orphanet journal of rare diseases

Avec: Amanda Worker , Hadley Mahon , Jack Sams , Elena Marchini , Rand Dubis , Alan Warren , Jez Stockdale , Jyothika Kumar , Elizabeth Varones , Daniel Ollerenshaw , Calum Grant , Peter Fish , Richard J Kelly

Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

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

Avec: Eduardo Calpena , Araceli Cuellar , Krithi Bala , Sigrid M A Swagemakers , Nils Koelling , Simon J McGowan , Julie M Phipps , Meena Balasubramanian , Michael L Cunningham , Sofia Douzgou , Wanda Lattanzi , Jenny E V Morton , Deborah Shears , Astrid Weber , Louise C Wilson , Helen Lord , Tracy Lester , David Johnson , Steven A Wall , Stephen R F Twigg , Irene M J Mathijssen , Auteur inconnu , Simeon A Boyadjiev , Andrew O M Wilkie

Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.

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

Avec: Zerin Hyder , Eduardo Calpena , Yang Pei , Rebecca S Tooze , Helen Brittain , Stephen R F Twigg , Deirdre Cilliers , Jenny E V Morton , Emma McCann , Astrid Weber , Louise C Wilson , Andrew G L Douglas , Ruth McGowan , Anna Need , Andrew Bond , Ana Lisa Taylor Tavares , Ellen R A Thomas , Auteur inconnu , Susan L Hill , Zandra C Deans , Mark Caulfield , Richard H Scott , Andrew O M Wilkie

Identifying patients with undiagnosed small intestinal neuroendocrine tumours in primary care using statistical and machine learning: model development and validation study.

British journal of cancer

Avec: Ash Kieran Clift , Hadley Mahon , Ghazanfar Khan , Amanda Worker , Elena Marchini , Orlando Buendia , Peter Fish , Mohid S Khan

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

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

Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.

The European respiratory journal

Avec: Amelia Shoemark , Helen Griffin , Gabrielle Wheway , Claire Hogg , Jane S Lucas , Auteur inconnu , Carme Camps , Jenny Taylor , Mary Carroll , Michael R Loebinger , James D Chalmers , Deborah Morris-Rosendahl , Hannah M Mitchison , Anthony De Soyza , Auteur inconnu , D Brown , J C Ambrose , P Arumugam , R Bevers , M Bleda , F Boardman-Pretty , C R Boustred , H Brittain , M J Caulfield , G C Chan , T Fowler , A Giess , A Hamblin , S Henderson , T J P Hubbard , R Jackson , L J Jones , D Kasperaviciute , M Kayikci , A Kousathanas , L Lahnstein , S E A Leigh , I U S Leong , F J Lopez , F Maleady-Crowe , M McEntagart , F Minneci , L Moutsianas , M Mueller , N Murugaesu , A C Need , P O'Donovan , C A Odhams , C Patch , D Perez-Gil , M B Pereira , J Pullinger , T Rahim , A Rendon , T Rogers , K Savage , K Sawant , R H Scott , A Siddiq , A Sieghart , S C Smith , A Sosinsky , A Stuckey , M Tanguy , A L Taylor Tavares , E R A Thomas , S R Thompson , A Tucci , M J Welland , E Williams , K Witkowska , S M Wood

Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.

American journal of medical genetics. Part A

Avec: Srimmitha Balachandar , Tamara J Graves , Anika Shimonty , Katie Kerr , Jill Kilner , Sihao Xiao , Richard Slade , Manveer Sroya , Mary Alikian , Emanuel Curetean , Ellen Thomas , Vivienne P M McConnell , Shane McKee , Andrew Devereau , Tom A Fowler , Mark J Caulfield , Eric W Alton , Teena Ferguson , Julian Redhead , Amy J McKnight , Geraldine A Thomas , Auteur inconnu , Micheala A Aldred , Claire L Shovlin

The genomic landscape of familial glioma.

Science advances

Avec: Dong-Joo Choi , Georgina Armstrong , Brittney Lozzi , Prashanth Vijayaraghavan , Sharon E Plon , Terence C Wong , Eric Boerwinkle , Donna M Muzny , Hsiao-Chi Chen , Richard A Gibbs , Quinn T Ostrom , Beatrice Melin , Benjamin Deneen , Melissa L Bondy , Auteur inconnu , Auteur inconnu , Matthew N Bainbridge , Christopher I Amos , Jill S Barnholtz-Sloan , Jonine L Bernstein , Elizabeth B Claus , Richard S Houlston , Dora Il'yasova , Robert B Jenkins , Christoffer Johansen , Daniel Lachance , Rose Lai , Beatrice S Melin , Ryan T Merrell , Sara H Olson , Siegal Sadetzki , Joellen Schildkraut , Sanjay Shete , J C Ambrose , P Arumugam , R Bevers , M Bleda , F Boardman-Pretty , C R Boustred , H Brittain , M A Brown , M J Caulfield , G C Chan , A Giess , J N Griffin , A Hamblin , S Henderson , T J P Hubbard , R Jackson , L J Jones , D Kasperaviciute , M Kayikci , A Kousathanas , L Lahnstein , A Lakey , S E A Leigh , I U S Leong , F J Lopez , F Maleady-Crowe , M McEntagart , F Minneci , J Mitchell , L Moutsianas , M Mueller , N Murugaesu , A C Need , P O'Donovan , C A Odhams , C Patch , D Perez-Gil , M B Pereira , J Pullinger , T Rahim , A Rendon , T Rogers , K Savage , K Sawant , R H Scott , A Siddiq , A Sieghart , S C Smith , A Sosinsky , A Stuckey , M Tanguy , A L Taylor Tavares , E R A Thomas , S R Thompson , A Tucci , M J Welland , E Williams , K Witkowska , S M Wood , M Zarowiecki

Réseau de co-auteurs

None None 9 collaborations

Hadley Mahon 3 collaborations

Eduardo Calpena 3 collaborations

Jenny E V Morton 3 collaborations

Astrid Weber 3 collaborations

Louise C Wilson 3 collaborations

Stephen R F Twigg 3 collaborations

Andrew O M Wilkie 3 collaborations

Manveer Sroya 2 collaborations

Geraldine A Thomas 2 collaborations

Teena Ferguson 2 collaborations

Julian Redhead 2 collaborations

Mark J Caulfield 2 collaborations

Claire L Shovlin 2 collaborations

Amanda Worker 2 collaborations

Elena Marchini 2 collaborations

Peter Fish 2 collaborations

Araceli Cuellar 2 collaborations

Krithi Bala 2 collaborations

Sigrid M A Swagemakers 2 collaborations

Nils Koelling 2 collaborations

Simon J McGowan 2 collaborations

Julie M Phipps 2 collaborations

Meena Balasubramanian 2 collaborations

Michael L Cunningham 2 collaborations

Sofia Douzgou 2 collaborations

Wanda Lattanzi 2 collaborations

Deborah Shears 2 collaborations

Helen Lord 2 collaborations

Tracy Lester 2 collaborations

David Johnson 2 collaborations

Steven A Wall 2 collaborations

Irene M J Mathijssen 2 collaborations

Simeon A Boyadjiev 2 collaborations

J C Ambrose 2 collaborations

P Arumugam 2 collaborations

R Bevers 2 collaborations

M Bleda 2 collaborations

F Boardman-Pretty 2 collaborations

C R Boustred 2 collaborations

H Brittain 2 collaborations

M J Caulfield 2 collaborations

G C Chan 2 collaborations

A Giess 2 collaborations

A Hamblin 2 collaborations

S Henderson 2 collaborations

T J P Hubbard 2 collaborations

R Jackson 2 collaborations

L J Jones 2 collaborations

D Kasperaviciute 2 collaborations

M Kayikci 2 collaborations

A Kousathanas 2 collaborations

L Lahnstein 2 collaborations

S E A Leigh 2 collaborations

I U S Leong 2 collaborations

F J Lopez 2 collaborations

F Maleady-Crowe 2 collaborations

M McEntagart 2 collaborations

F Minneci 2 collaborations

L Moutsianas 2 collaborations

M Mueller 2 collaborations

N Murugaesu 2 collaborations

A C Need 2 collaborations

P O'Donovan 2 collaborations

C A Odhams 2 collaborations

C Patch 2 collaborations

D Perez-Gil 2 collaborations

M B Pereira 2 collaborations

J Pullinger 2 collaborations

T Rahim 2 collaborations

A Rendon 2 collaborations

T Rogers 2 collaborations

K Savage 2 collaborations

K Sawant 2 collaborations

R H Scott 2 collaborations

A Siddiq 2 collaborations

A Sieghart 2 collaborations

S C Smith 2 collaborations

A Sosinsky 2 collaborations

A Stuckey 2 collaborations

M Tanguy 2 collaborations

A L Taylor Tavares 2 collaborations

E R A Thomas 2 collaborations

S R Thompson 2 collaborations

A Tucci 2 collaborations

M J Welland 2 collaborations

E Williams 2 collaborations

K Witkowska 2 collaborations

S M Wood 2 collaborations

Katie E Joyce 1 collaboration

Ebun Onabanjo 1 collaboration

Sheila Brownlow 1 collaboration

Fadumo Nur 1 collaboration

Kike Olupona 1 collaboration

Kehinde Fakayode 1 collaboration

Carolyn M Millar 1 collaboration

Nichola Cooper 1 collaboration

D Mark Layton 1 collaboration

Ashley Kieran Clift 1 collaboration

Nadine Sawoky 1 collaboration

M Zulf Mughal 1 collaboration

Jack Sams 1 collaboration

Rand Dubis 1 collaboration

Alan Warren 1 collaboration

Jez Stockdale 1 collaboration

Jyothika Kumar 1 collaboration

Elizabeth Varones 1 collaboration

Daniel Ollerenshaw 1 collaboration

Calum Grant 1 collaboration

Richard J Kelly 1 collaboration

Zerin Hyder 1 collaboration

Yang Pei 1 collaboration

Rebecca S Tooze 1 collaboration

Helen Brittain 1 collaboration

Deirdre Cilliers 1 collaboration

Emma McCann 1 collaboration

Andrew G L Douglas 1 collaboration

Ruth McGowan 1 collaboration

Anna Need 1 collaboration

Andrew Bond 1 collaboration

Ana Lisa Taylor Tavares 1 collaboration

Ellen R A Thomas 1 collaboration

Susan L Hill 1 collaboration

Zandra C Deans 1 collaboration

Mark Caulfield 1 collaboration

Richard H Scott 1 collaboration

Ash Kieran Clift 1 collaboration

Ghazanfar Khan 1 collaboration

Orlando Buendia 1 collaboration

Mohid S Khan 1 collaboration

Amelia Shoemark 1 collaboration

Helen Griffin 1 collaboration

Gabrielle Wheway 1 collaboration

Claire Hogg 1 collaboration

Jane S Lucas 1 collaboration

Carme Camps 1 collaboration

Jenny Taylor 1 collaboration

Mary Carroll 1 collaboration

Michael R Loebinger 1 collaboration

James D Chalmers 1 collaboration

Deborah Morris-Rosendahl 1 collaboration

Hannah M Mitchison 1 collaboration

Anthony De Soyza 1 collaboration

D Brown 1 collaboration

T Fowler 1 collaboration

Srimmitha Balachandar 1 collaboration

Tamara J Graves 1 collaboration

Anika Shimonty 1 collaboration

Katie Kerr 1 collaboration

Jill Kilner 1 collaboration

Sihao Xiao 1 collaboration

Richard Slade 1 collaboration

Mary Alikian 1 collaboration

Emanuel Curetean 1 collaboration

Ellen Thomas 1 collaboration

Vivienne P M McConnell 1 collaboration

Shane McKee 1 collaboration

Andrew Devereau 1 collaboration

Tom A Fowler 1 collaboration

Eric W Alton 1 collaboration

Amy J McKnight 1 collaboration

Micheala A Aldred 1 collaboration

Dong-Joo Choi 1 collaboration

Georgina Armstrong 1 collaboration

Brittney Lozzi 1 collaboration

Prashanth Vijayaraghavan 1 collaboration

Sharon E Plon 1 collaboration

Terence C Wong 1 collaboration

Eric Boerwinkle 1 collaboration

Donna M Muzny 1 collaboration

Hsiao-Chi Chen 1 collaboration

Richard A Gibbs 1 collaboration

Quinn T Ostrom 1 collaboration

Beatrice Melin 1 collaboration

Benjamin Deneen 1 collaboration

Melissa L Bondy 1 collaboration

Matthew N Bainbridge 1 collaboration

Christopher I Amos 1 collaboration

Jill S Barnholtz-Sloan 1 collaboration

Jonine L Bernstein 1 collaboration

Elizabeth B Claus 1 collaboration

Richard S Houlston 1 collaboration

Dora Il'yasova 1 collaboration

Robert B Jenkins 1 collaboration

Christoffer Johansen 1 collaboration

Daniel Lachance 1 collaboration

Rose Lai 1 collaboration

Beatrice S Melin 1 collaboration

Ryan T Merrell 1 collaboration

Sara H Olson 1 collaboration

Siegal Sadetzki 1 collaboration

Joellen Schildkraut 1 collaboration

Sanjay Shete 1 collaboration

M A Brown 1 collaboration

J N Griffin 1 collaboration

A Lakey 1 collaboration

J Mitchell 1 collaboration

M Zarowiecki 1 collaboration