Angela Barnicoat

Affiliations

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London WC1N 3JH, UK.

Publications (10)

Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome.

HGG advances

Avec: Emma Wakeling , Meriel McEntagart , Michael Bruccoleri , Charles Shaw-Smith , Karen L Stals , Matthew Wakeling , Clare Beesley , Auteur inconnu , Andrea K Hanson-Kahn , Mary Kukolich , David A Stevenson , Philippe M Campeau , Sian Ellard , Sarah H Elsea , Xiang-Jiao Yang , Richard C Caswell

AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.

American journal of medical genetics. Part A

Avec: Katharine Edgerley , Amaka C Offiah , Alistair D Calder , Kshitij Mankad , Nicholas Simon Thomas , David J Bunyan , Maggie Williams , Chris Buxton , Arniban Majumdar , Kayal Vijayakumar , Tom Hilliard , James Turner , Christine P Burren , Fergal Monsell , Sarah F Smithson

Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.

American journal of medical genetics. Part A

Avec: Agata Oliwa , Glenda Hendson , Cheryl Longman , Anne Synnes , Kim Seath , Judith G Hall , Millan S Patel

A practical approach to the genomics of kidney disorders.

Pediatric nephrology (Berlin, Germany)

Avec: Eleanor Hay , Thomas Cullup ,

A clinical scoring system for congenital contractural arachnodactyly.

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

Avec: Ilse Meerschaut , Shana De Coninck , Wouter Steyaert , Allan Bayat , Francesco Benedicenti , Siren Berland , Edward M Blair , Jeroen Breckpot , Anna de Burca , Anne Destrée , Sixto García-Miñaúr , Andrew J Green , Bernadette C Hanna , Kathelijn Keymolen , Marije Koopmans , Damien Lederer , Melissa Lees , Cheryl Longman , Sally Ann Lynch , Alison M Male , Fiona McKenzie , Isabelle Migeotte , Ercan Mihci , Banu Nur , Florence Petit , Juliette Piard , Frank S Plasschaert , Anita Rauch , Pascale Ribaï , Iratxe Salcedo Pacheco , Franco Stanzial , Irene Stolte-Dijkstra , Irene Valenzuela , Vinod Varghese , Pradeep C Vasudevan , Emma Wakeling , Carina Wallgren-Pettersson , Paul Coucke , Anne De Paepe , Daniël De Wolf , Sofie Symoens , Bert Callewaert

EML1-associated brain overgrowth syndrome with ribbon-like heterotopia.

American journal of medical genetics. Part C, Seminars in medical genetics

Avec: Renske Oegema , George McGillivray , Richard Leventer , Anne-Gaëlle Le Moing , Nadia Bahi-Buisson , Simone Mandelstam , David Francis , Fiona Francis , Grazia M S Mancini , Sanne Savelberg , Gijs van Haaften , Kshitij Mankad , Maarten H Lequin

Genetic and chemotherapeutic influences on germline hypermutation.

Nature

Avec: Joanna Kaplanis , Benjamin Ide , Rashesh Sanghvi , Matthew Neville , Petr Danecek , Tim Coorens , Elena Prigmore , Patrick Short , Giuseppe Gallone , Jeremy McRae , Auteur inconnu , Jenny Carmichael , Helen Firth , Patrick O'Brien , Raheleh Rahbari , Matthew Hurles

ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.

Human mutation

Avec: Thabo M Yates , Morgan Drucker , Karen Low , Erica H Gerkes , Andrew E Fry , Michael J Parker , Mary O'Driscoll , Perrine Charles , Helen Cox , Isabelle Marey , Boris Keren , Tuula Rinne , Meriel McEntagart , Vijaya Ramachandran , Suzanne Drury , Fleur Vansenne , Deborah A Sival , Johanna C Herkert , Bert Callewaert , Wen-Hann Tan , Meena Balasubramanian

Highlighting the Dystonic Phenotype Related to GNAO1.

Movement disorders : official journal of the Movement Disorder Society

Avec: Thomas Wirth , Giacomo Garone , Manju A Kurian , Amélie Piton , Francisca Millan , Aida Telegrafi , Nathalie Drouot , Gabrielle Rudolf , Jamel Chelly , Warren Marks , Lydie Burglen , Diane Demailly , Phillipe Coubes , Mayte Castro-Jimenez , Sylvie Joriot , Jamal Ghoumid , Jérémie Belin , Jean-Marc Faucheux , Lubov Blumkin , Mariam Hull , Mered Parnes , Claudia Ravelli , Gaëtan Poulen , Nadège Calmels , Andrea H Nemeth , Martin Smith , Claire Ewenczyk , Aurélie Méneret , Emmanuel Roze , Boris Keren , Cyril Mignot , Christophe Beroud , Fernando Acosta , Catherine Nowak , William G Wilson , Dora Steel , Alessandro Capuano , Marie Vidailhet , Jean-Pierre Lin , Christine Tranchant , Laura Cif , Diane Doummar , Mathieu Anheim

A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD).

Journal of the Endocrine Society

Avec: Elim Man , Imran Mushtaq , Polly Carmichael , Claire R Hughes , Kate Davies , Helen Aitkenhead , Rakesh Amin , Charles R Buchanan , Abraham Cherian , Nikola J Costa , Sarah M Creighton , Patrick G Duffy , Emma Hewson , Peter C Hindmarsh , Louisa C Monzani , Catherine J Peters , Philip G Ransley , Naima Smeulders , Helen A Spoudeas , Dan Wood , Ieuan A Hughes , Harshini Katugampola , Caroline E Brain , Mehul T Dattani , John C Achermann

Réseau de co-auteurs

Emma Wakeling 2 collaborations

Meriel McEntagart 2 collaborations

None None 2 collaborations

Kshitij Mankad 2 collaborations

Cheryl Longman 2 collaborations

Bert Callewaert 2 collaborations

Boris Keren 2 collaborations

Michael Bruccoleri 1 collaboration

Charles Shaw-Smith 1 collaboration

Karen L Stals 1 collaboration

Matthew Wakeling 1 collaboration

Clare Beesley 1 collaboration

Andrea K Hanson-Kahn 1 collaboration

Mary Kukolich 1 collaboration

David A Stevenson 1 collaboration

Philippe M Campeau 1 collaboration

Sian Ellard 1 collaboration

Sarah H Elsea 1 collaboration

Xiang-Jiao Yang 1 collaboration

Richard C Caswell 1 collaboration

Katharine Edgerley 1 collaboration

Amaka C Offiah 1 collaboration

Alistair D Calder 1 collaboration

Nicholas Simon Thomas 1 collaboration

David J Bunyan 1 collaboration

Maggie Williams 1 collaboration

Chris Buxton 1 collaboration

Arniban Majumdar 1 collaboration

Kayal Vijayakumar 1 collaboration

Tom Hilliard 1 collaboration

James Turner 1 collaboration

Christine P Burren 1 collaboration

Fergal Monsell 1 collaboration

Sarah F Smithson 1 collaboration

Agata Oliwa 1 collaboration

Glenda Hendson 1 collaboration

Anne Synnes 1 collaboration

Kim Seath 1 collaboration

Judith G Hall 1 collaboration

Millan S Patel 1 collaboration

Eleanor Hay 1 collaboration

Thomas Cullup 1 collaboration

Ilse Meerschaut 1 collaboration

Shana De Coninck 1 collaboration

Wouter Steyaert 1 collaboration

Allan Bayat 1 collaboration

Francesco Benedicenti 1 collaboration

Siren Berland 1 collaboration

Edward M Blair 1 collaboration

Jeroen Breckpot 1 collaboration

Anna de Burca 1 collaboration

Anne Destrée 1 collaboration

Sixto García-Miñaúr 1 collaboration

Andrew J Green 1 collaboration

Bernadette C Hanna 1 collaboration

Kathelijn Keymolen 1 collaboration

Marije Koopmans 1 collaboration

Damien Lederer 1 collaboration

Melissa Lees 1 collaboration

Sally Ann Lynch 1 collaboration

Alison M Male 1 collaboration

Fiona McKenzie 1 collaboration

Isabelle Migeotte 1 collaboration

Ercan Mihci 1 collaboration

Banu Nur 1 collaboration

Florence Petit 1 collaboration

Juliette Piard 1 collaboration

Frank S Plasschaert 1 collaboration

Anita Rauch 1 collaboration

Pascale Ribaï 1 collaboration

Iratxe Salcedo Pacheco 1 collaboration

Franco Stanzial 1 collaboration

Irene Stolte-Dijkstra 1 collaboration

Irene Valenzuela 1 collaboration

Vinod Varghese 1 collaboration

Pradeep C Vasudevan 1 collaboration

Carina Wallgren-Pettersson 1 collaboration

Paul Coucke 1 collaboration

Anne De Paepe 1 collaboration

Daniël De Wolf 1 collaboration

Sofie Symoens 1 collaboration

Renske Oegema 1 collaboration

George McGillivray 1 collaboration

Richard Leventer 1 collaboration

Anne-Gaëlle Le Moing 1 collaboration

Nadia Bahi-Buisson 1 collaboration

Simone Mandelstam 1 collaboration

David Francis 1 collaboration

Fiona Francis 1 collaboration

Grazia M S Mancini 1 collaboration

Sanne Savelberg 1 collaboration

Gijs van Haaften 1 collaboration

Maarten H Lequin 1 collaboration

Joanna Kaplanis 1 collaboration

Benjamin Ide 1 collaboration

Rashesh Sanghvi 1 collaboration

Matthew Neville 1 collaboration

Petr Danecek 1 collaboration

Tim Coorens 1 collaboration

Elena Prigmore 1 collaboration

Patrick Short 1 collaboration

Giuseppe Gallone 1 collaboration

Jeremy McRae 1 collaboration

Jenny Carmichael 1 collaboration

Helen Firth 1 collaboration

Patrick O'Brien 1 collaboration

Raheleh Rahbari 1 collaboration

Matthew Hurles 1 collaboration

Thabo M Yates 1 collaboration

Morgan Drucker 1 collaboration

Karen Low 1 collaboration

Erica H Gerkes 1 collaboration

Andrew E Fry 1 collaboration

Michael J Parker 1 collaboration

Mary O'Driscoll 1 collaboration

Perrine Charles 1 collaboration

Helen Cox 1 collaboration

Isabelle Marey 1 collaboration

Tuula Rinne 1 collaboration

Vijaya Ramachandran 1 collaboration

Suzanne Drury 1 collaboration

Fleur Vansenne 1 collaboration

Deborah A Sival 1 collaboration

Johanna C Herkert 1 collaboration

Wen-Hann Tan 1 collaboration

Meena Balasubramanian 1 collaboration

Thomas Wirth 1 collaboration

Giacomo Garone 1 collaboration

Manju A Kurian 1 collaboration

Amélie Piton 1 collaboration

Francisca Millan 1 collaboration

Aida Telegrafi 1 collaboration

Nathalie Drouot 1 collaboration

Gabrielle Rudolf 1 collaboration

Jamel Chelly 1 collaboration

Warren Marks 1 collaboration

Lydie Burglen 1 collaboration

Diane Demailly 1 collaboration

Phillipe Coubes 1 collaboration

Mayte Castro-Jimenez 1 collaboration

Sylvie Joriot 1 collaboration

Jamal Ghoumid 1 collaboration

Jérémie Belin 1 collaboration

Jean-Marc Faucheux 1 collaboration

Lubov Blumkin 1 collaboration

Mariam Hull 1 collaboration

Mered Parnes 1 collaboration

Claudia Ravelli 1 collaboration

Gaëtan Poulen 1 collaboration

Nadège Calmels 1 collaboration

Andrea H Nemeth 1 collaboration

Martin Smith 1 collaboration

Claire Ewenczyk 1 collaboration

Aurélie Méneret 1 collaboration

Emmanuel Roze 1 collaboration

Cyril Mignot 1 collaboration

Christophe Beroud 1 collaboration

Fernando Acosta 1 collaboration

Catherine Nowak 1 collaboration

William G Wilson 1 collaboration

Dora Steel 1 collaboration

Alessandro Capuano 1 collaboration

Marie Vidailhet 1 collaboration

Jean-Pierre Lin 1 collaboration

Christine Tranchant 1 collaboration

Laura Cif 1 collaboration

Diane Doummar 1 collaboration

Mathieu Anheim 1 collaboration

Elim Man 1 collaboration

Imran Mushtaq 1 collaboration

Polly Carmichael 1 collaboration

Claire R Hughes 1 collaboration

Kate Davies 1 collaboration

Helen Aitkenhead 1 collaboration

Rakesh Amin 1 collaboration

Charles R Buchanan 1 collaboration

Abraham Cherian 1 collaboration

Nikola J Costa 1 collaboration

Sarah M Creighton 1 collaboration

Patrick G Duffy 1 collaboration

Emma Hewson 1 collaboration

Peter C Hindmarsh 1 collaboration

Louisa C Monzani 1 collaboration

Catherine J Peters 1 collaboration

Philip G Ransley 1 collaboration

Naima Smeulders 1 collaboration

Helen A Spoudeas 1 collaboration

Dan Wood 1 collaboration

Ieuan A Hughes 1 collaboration

Harshini Katugampola 1 collaboration

Caroline E Brain 1 collaboration

Mehul T Dattani 1 collaboration

John C Achermann 1 collaboration