Sarah Smithson

Affiliations

Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom.

Publications (11)

De novo variants in CNOT3 cause a variable neurodevelopmental disorder.

European journal of human genetics : EJHG

Avec: R Martin , M Splitt , D Genevieve , E Aten , A Collins , C I de Bie , L Faivre , N Foulds , J Giltay , R Ibitoye , S Joss , J Kennedy , B Kerr , E Kivuva , M Koopmans , R Newbury-Ecob , N Jean-Marçais , E A J Peeters , S Smithson , S Tomkins , F Tranmauthem , A Piton , A van Haeringen

A Clinical Challenge in the Emergency Department: A Case of Klebsiella Infective Endocarditis Presenting With Splenic Abscess.

Cureus

Avec: Nicolas Ulloa , Jessica M Cook , Shaun Smithson

Unplanned Cesarean delivery is associated with risk for postpartum depressive symptoms in the immediate postpartum period.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

Avec: S Smithson , J Mirocha , R Horgan , R Graebe , R Massaro , E Accortt

ADAMTSL2 mutations determine the phenotypic severity in Geleophysic Dysplasia.

JCI insight

Avec: Vladimir Camarena , Monique M Williams , Alejo A Morales , Mohammad F Zafeer , Okan V Kilic , Ali Kamiar , Clemer Abad , Monica A Rasmussen , Laurence M Briski , LéShon Peart , Guney Bademci , Deborah S Barbouth , Sarah Smithson , Gaofeng Wang , Lina A Shehadeh , Katherina Walz , Mustafa Tekin

PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.

American journal of medical genetics. Part A

Avec: Lucy Bownass , Stephen Abbs , Ruth Armstrong , Genevieve Baujat , Gry Behzadi , Ragnhild Drage Berentsen , Christine Burren , Alistair Calder , Valérie Cormier-Daire , Ruth Newbury-Ecob , Nicola Foulds , Petur B Juliusson , Sarina G Kant , Henrietta Lefroy , Sarju G Mehta , Else Merckoll , Caroline Michot , Fergal Monsell , Amaka C Offiah , Allan Richards , Karen Rosendahl , Cecilie F Rustad , Deborah Shears , Kristian Tveten , Diana Wellesley , Paul Wordsworth , Auteur inconnu , Sarah Smithson

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.

Clinical genetics

Avec: Alessandra Rossi , Lot Snijders Blok , Sonja Neuser , Chiara Klöckner , Konrad Platzer , Laurence Olivier Faivre , Heike Weigand , Maria L Dentici , Marco Tartaglia , Marcello Niceta , Paolo Alfieri , Siddharth Srivastava , David Coulter , Lacey Smith , Kristin Vinorum , Gerarda Cappuccio , Nicola Brunetti-Pierri , Deniz Torun , Mutluay Arslan , Mathilde F Lauridsen , Oliver Murch , Rachel Irving , Sally A Lynch , Sarju G Mehta , Jenny Carmichael , Evelien Zonneveld-Huijssoon , Bert de Vries , Tjitske Kleefstra , Katrine M Johannesen , Ian T Westphall , Susan S Hughes , Sarah Smithson , Julie Evans , Tracy Dudding-Byth , Marleen Simon , Ellen van Binsbergen , Johanna C Herkert , Gea Beunders , Henry Oppermann , Mert Bakal , Rikke S Møller , Guido Rubboli , Allan Bayat

Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype.

Clinical genetics

Avec: Jessica A Radley , Rory B G O'Sullivan , Sarah E Turton , Helen Cox , Julie Vogt , Jenny Morton , Elizabeth Jones , Sarah Smithson , Katherine Lachlan , Julia Rankin , Jill Clayton-Smith , Josh Willoughby , Frances F Elmslie , Francis H Sansbury , Nicola Cooper , Auteur inconnu , Meena Balasubramanian

New macular findings in individuals with biallelic KLHL7 gene mutation.

BMJ open ophthalmology

Avec: Ling Zhi Heng , Joanna Kennedy , Sarah Smithson , Ruth Newbury-Ecob , Amanda Churchill

Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children: a single-country observational cohort study.

Archives of disease in childhood

Avec: Patrick Thornley , Nicholas Bishop , Duncan Baker , Joanna Brock , Paul Arundel , Christine Burren , Sarah Smithson , Catherine DeVile , Belinda Crowe , Jeremy Allgrove , Vrinda Saraff , Nick Shaw , Meena Balasubramanian

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

Journal of intellectual disability research : JIDR

Avec: P A Mulder , I D C van Balkom , A M Landlust , M Priolo , L A Menke , I H Acero , F S Alkuraya , P Arias , L Bernardini , E K Bijlsma , T Cole , C Coubes , I Dapia , S Davies , N Di Donato , N H Elcioglu , J A Fahrner , A Foster , N G González , I Huber , M Iascone , A-S Kaiser , A Kamath , K Kooblall , P Lapunzina , J Liebelt , S A Lynch , S M Maas , C Mammì , I B Mathijssen , S McKee , G M Mirzaa , T Montgomery , D Neubauer , T E Neumann , L Pintomalli , M A Pisanti , A S Plomp , S Price , C Salter , F Santos-Simarro , P Sarda , D Schanze , M Segovia , C Shaw-Smith , S Smithson , M Suri , K Tatton-Brown , J Tenorio , R V Thakker , R M Valdez , A Van Haeringen , J M Van Hagen , M Zenker , M Zollino , W W Dunn , S Piening , R C Hennekam

Teaching social determinants through geographic information system mapping.

The clinical teacher

Avec: Zachary Boggs , Gary L Beck Dallaghan , Sarah Smithson , Yee Lam

Réseau de co-auteurs

S Smithson 3 collaborations

Christine Burren 2 collaborations

Ruth Newbury-Ecob 2 collaborations

Sarju G Mehta 2 collaborations

None None 2 collaborations

Meena Balasubramanian 2 collaborations

R Martin 1 collaboration

M Splitt 1 collaboration

D Genevieve 1 collaboration

E Aten 1 collaboration

A Collins 1 collaboration

C I de Bie 1 collaboration

L Faivre 1 collaboration

N Foulds 1 collaboration

J Giltay 1 collaboration

R Ibitoye 1 collaboration

S Joss 1 collaboration

J Kennedy 1 collaboration

B Kerr 1 collaboration

E Kivuva 1 collaboration

M Koopmans 1 collaboration

R Newbury-Ecob 1 collaboration

N Jean-Marçais 1 collaboration

E A J Peeters 1 collaboration

S Tomkins 1 collaboration

F Tranmauthem 1 collaboration

A Piton 1 collaboration

A van Haeringen 1 collaboration

Nicolas Ulloa 1 collaboration

Jessica M Cook 1 collaboration

Shaun Smithson 1 collaboration

J Mirocha 1 collaboration

R Horgan 1 collaboration

R Graebe 1 collaboration

R Massaro 1 collaboration

E Accortt 1 collaboration

Vladimir Camarena 1 collaboration

Monique M Williams 1 collaboration

Alejo A Morales 1 collaboration

Mohammad F Zafeer 1 collaboration

Okan V Kilic 1 collaboration

Ali Kamiar 1 collaboration

Clemer Abad 1 collaboration

Monica A Rasmussen 1 collaboration

Laurence M Briski 1 collaboration

LéShon Peart 1 collaboration

Guney Bademci 1 collaboration

Deborah S Barbouth 1 collaboration

Gaofeng Wang 1 collaboration

Lina A Shehadeh 1 collaboration

Katherina Walz 1 collaboration

Mustafa Tekin 1 collaboration

Lucy Bownass 1 collaboration

Stephen Abbs 1 collaboration

Ruth Armstrong 1 collaboration

Genevieve Baujat 1 collaboration

Gry Behzadi 1 collaboration

Ragnhild Drage Berentsen 1 collaboration

Alistair Calder 1 collaboration

Valérie Cormier-Daire 1 collaboration

Nicola Foulds 1 collaboration

Petur B Juliusson 1 collaboration

Sarina G Kant 1 collaboration

Henrietta Lefroy 1 collaboration

Else Merckoll 1 collaboration

Caroline Michot 1 collaboration

Fergal Monsell 1 collaboration

Amaka C Offiah 1 collaboration

Allan Richards 1 collaboration

Karen Rosendahl 1 collaboration

Cecilie F Rustad 1 collaboration

Deborah Shears 1 collaboration

Kristian Tveten 1 collaboration

Diana Wellesley 1 collaboration

Paul Wordsworth 1 collaboration

Alessandra Rossi 1 collaboration

Lot Snijders Blok 1 collaboration

Sonja Neuser 1 collaboration

Chiara Klöckner 1 collaboration

Konrad Platzer 1 collaboration

Laurence Olivier Faivre 1 collaboration

Heike Weigand 1 collaboration

Maria L Dentici 1 collaboration

Marco Tartaglia 1 collaboration

Marcello Niceta 1 collaboration

Paolo Alfieri 1 collaboration

Siddharth Srivastava 1 collaboration

David Coulter 1 collaboration

Lacey Smith 1 collaboration

Kristin Vinorum 1 collaboration

Gerarda Cappuccio 1 collaboration

Nicola Brunetti-Pierri 1 collaboration

Deniz Torun 1 collaboration

Mutluay Arslan 1 collaboration

Mathilde F Lauridsen 1 collaboration

Oliver Murch 1 collaboration

Rachel Irving 1 collaboration

Sally A Lynch 1 collaboration

Jenny Carmichael 1 collaboration

Evelien Zonneveld-Huijssoon 1 collaboration

Bert de Vries 1 collaboration

Tjitske Kleefstra 1 collaboration

Katrine M Johannesen 1 collaboration

Ian T Westphall 1 collaboration

Susan S Hughes 1 collaboration

Julie Evans 1 collaboration

Tracy Dudding-Byth 1 collaboration

Marleen Simon 1 collaboration

Ellen van Binsbergen 1 collaboration

Johanna C Herkert 1 collaboration

Gea Beunders 1 collaboration

Henry Oppermann 1 collaboration

Mert Bakal 1 collaboration

Rikke S Møller 1 collaboration

Guido Rubboli 1 collaboration

Allan Bayat 1 collaboration

Jessica A Radley 1 collaboration

Rory B G O'Sullivan 1 collaboration

Sarah E Turton 1 collaboration

Helen Cox 1 collaboration

Julie Vogt 1 collaboration

Jenny Morton 1 collaboration

Elizabeth Jones 1 collaboration

Katherine Lachlan 1 collaboration

Julia Rankin 1 collaboration

Jill Clayton-Smith 1 collaboration

Josh Willoughby 1 collaboration

Frances F Elmslie 1 collaboration

Francis H Sansbury 1 collaboration

Nicola Cooper 1 collaboration

Ling Zhi Heng 1 collaboration

Joanna Kennedy 1 collaboration

Amanda Churchill 1 collaboration

Patrick Thornley 1 collaboration

Nicholas Bishop 1 collaboration

Duncan Baker 1 collaboration

Joanna Brock 1 collaboration

Paul Arundel 1 collaboration

Catherine DeVile 1 collaboration

Belinda Crowe 1 collaboration

Jeremy Allgrove 1 collaboration

Vrinda Saraff 1 collaboration

Nick Shaw 1 collaboration

P A Mulder 1 collaboration

I D C van Balkom 1 collaboration

A M Landlust 1 collaboration

M Priolo 1 collaboration

L A Menke 1 collaboration

I H Acero 1 collaboration

F S Alkuraya 1 collaboration

P Arias 1 collaboration

L Bernardini 1 collaboration

E K Bijlsma 1 collaboration

T Cole 1 collaboration

C Coubes 1 collaboration

I Dapia 1 collaboration

S Davies 1 collaboration

N Di Donato 1 collaboration

N H Elcioglu 1 collaboration

J A Fahrner 1 collaboration

A Foster 1 collaboration

N G González 1 collaboration

I Huber 1 collaboration

M Iascone 1 collaboration

A-S Kaiser 1 collaboration

A Kamath 1 collaboration

K Kooblall 1 collaboration

P Lapunzina 1 collaboration

J Liebelt 1 collaboration

S A Lynch 1 collaboration

S M Maas 1 collaboration

C Mammì 1 collaboration

I B Mathijssen 1 collaboration

S McKee 1 collaboration

G M Mirzaa 1 collaboration

T Montgomery 1 collaboration

D Neubauer 1 collaboration

T E Neumann 1 collaboration

L Pintomalli 1 collaboration

M A Pisanti 1 collaboration

A S Plomp 1 collaboration

S Price 1 collaboration

C Salter 1 collaboration

F Santos-Simarro 1 collaboration

P Sarda 1 collaboration

D Schanze 1 collaboration

M Segovia 1 collaboration

C Shaw-Smith 1 collaboration

M Suri 1 collaboration

K Tatton-Brown 1 collaboration

J Tenorio 1 collaboration

R V Thakker 1 collaboration

R M Valdez 1 collaboration

A Van Haeringen 1 collaboration

J M Van Hagen 1 collaboration

M Zenker 1 collaboration

M Zollino 1 collaboration

W W Dunn 1 collaboration

S Piening 1 collaboration

R C Hennekam 1 collaboration

Zachary Boggs 1 collaboration

Gary L Beck Dallaghan 1 collaboration

Yee Lam 1 collaboration