Satyamaanasa Polubothu

Affiliations

Institute of Child Health, University College London, London, UK.

Publications (17)

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Nature genetics

Avec: Pierre Vabres , Arthur Sorlin , Stanislav S Kholmanskikh , Bénédicte Demeer , Judith St-Onge , Yannis Duffourd , Paul Kuentz , Jean-Benoît Courcet , Virginie Carmignac , Philippine Garret , Didier Bessis , Odile Boute , Alain Bron , Guillaume Captier , Esther Carmi , Bernard Devauchelle , David Geneviève , Catherine Gondry-Jouet , Laurent Guibaud , Arnaud Lafon , Michèle Mathieu-Dramard , Julien Thevenon , William B Dobyns , Geneviève Bernard , Francesca Faravelli , Veronica A Kinsler , Christel Thauvin , Laurence Faivre , M Elizabeth Ross , Jean-Baptiste Rivière

PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma.

The Journal of investigative dermatology

Avec: Nicole Bender , Siobhan Muthiah , Davide Zecchin , Charalambos Demetriou , Sara Barberan Martin , Sony Malhotra , Jana Travnickova , Zhiqiang Zeng , Markus Böhm , Sebastien Barbarot , Catherine Cottrell , Olivia Davies , Eulalia Baselga , Nigel P Burrows , Virginie Carmignac , Joey Santiago Diaz , Christine Fink , Holger A Haenssle , Rudolf Happle , Mark Harland , Jacquelyn Majerowski , Pierre Vabres , Marie Vincent , Julia A Newton-Bishop , D Tim Bishop , Dawn Siegel , E Elizabeth Patton , Maya Topf , Neil Rajan , Beth Drolet , Veronica A Kinsler

Epidermal choristoma: a case series and review of the literature.

Pediatric dermatology

Avec: Connor Hughes , Ashley Ferro , Sukhpreet Dubb , Julia Gass , Liz Hook , Vijay Santhanam , Veronica Kinsler ,

GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics.

The Journal of investigative dermatology

Avec: Davide Zecchin , Nicole Knöpfel , Anna K Gluck , Mark Stevenson , Aimie Sauvadet , Sara Barberan-Martin , Fanourios Michailidis , Dale Bryant , Asuka Inoue , Kate E Lines , Fadil M Hannan , Robert K Semple , Rajesh V Thakker , Veronica A Kinsler

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Nature genetics

Final congenital melanocytic naevi colour is determined by normal skin colour and unaltered by superficial removal techniques: a longitudinal study.

The British journal of dermatology

Avec: S Polubothu , V A Kinsler

Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.

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

Avec: Davide Zecchin , Lara Al-Olabi , Daniël A Lionarons , Mark Harland , Stuart Horswell , Anna C Thomas , Lilian Hunt , Nathan Wlodarchak , Paula Aguilera , Sarah Brand , Dale Bryant , Cristina Carrera , Hui Chen , Greg Elgar , Catherine A Harwood , Michael Howell , Lionel Larue , Sam Loughlin , Jeff MacDonald , Josep Malvehy , Sara Martin Barberan , Vanessa Martins da Silva , Miriam Molina , Deborah Morrogh , Dale Moulding , Jérémie Nsengimana , Alan Pittman , Joan-Anton Puig-Butillé , Kiran Parmar , Neil J Sebire , Stephen Scherer , Paulina Stadnik , Philip Stanier , Gemma Tell , Regula Waelchli , Mehdi Zarrei , Susana Puig , Véronique Bataille , Yongna Xing , Eugene Healy , Gudrun E Moore , Wei-Li Di , Julia Newton-Bishop , Julian Downward , Veronica A Kinsler

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Nature genetics

Does the gene matter? Genotype-phenotype and genotype-outcome associations in congenital melanocytic naevi.

The British journal of dermatology

Avec: S Polubothu , N McGuire , L Al-Olabi , W Baird , N Bulstrode , J Chalker , D Josifova , D Lomas , J O'Hara , J Ong , D Rampling , P Stadnik , A Thomas , E Wedgeworth , N J Sebire , V A Kinsler

RNA therapy for oncogenic NRAS-driven naevi induces apoptosis.

The Journal of investigative dermatology

Avec: Dale Bryant , Sara Barberan-Martin , Ruhina Maeshima , Ignacio Del Valle Torres , Mohammad Rabii , William Baird , Aimie Sauvadet , Charalambos Demetriou , Phoebe Jones , Nicole Knöpfel , Fanourios Michailidis , Melissa Riachi , Dorothy C Bennett , Davide Zecchin , Alan Pittman , Stephen Hart , Veronica A Kinsler

Keratinocytic epidermal nevi associated with localized fibro-osseous lesions without hypophosphatemia.

Pediatric dermatology

Avec: Lien Mestach , Alistair Calder , Ellen Denayer , Karolina Gholam , Eric Legius , Elena Levtchenko , An Van Laethem , Hilde Brems , Veronica A Kinsler , Marie-Anne Morren

Neurology. Genetics

Avec: Joseph M Sliepka , Sarah C McGriff , Linda Z Rossetti , Peyman Bizargity , Haley Streff , Yi-Shan Lee , Hongzheng Dai , Grace Lee , Vicky Ren , Jill V Hunter , Daniel J Curry , Fernando Scaglia , Adekunle M Adesina , Irfan Ali , Veronica Kinsler , Lindsay C Burrage , Dana Marafi

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

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

Avec: Virginie Carmignac , Cyril Mignot , Emmanuelle Blanchard , Paul Kuentz , Marie-Hélène Aubriot-Lorton , Victoria E R Parker , Arthur Sorlin , Sylvie Fraitag , Jean-Benoît Courcet , Yannis Duffourd , Diana Rodriguez , Rachel G Knox , Anne Boland , Robert Olaso , Marc Delepine , Véronique Darmency , Melissa Riachi , Chloé Quelin , Paul Rollier , Louise Goujon , Sarah Grotto , Yline Capri , Marie-Line Jacquemont , Sylvie Odent , Daniel Amram , Martin Chevarin , Catherine Vincent-Delorme , Benoît Catteau , Laurent Guibaud , Alexis Arzimanoglou , Malika Keddar , Catherine Sarret , Patrick Callier , Didier Bessis , David Geneviève , Jean-François Deleuze , Christel Thauvin , Robert K Semple , Christophe Philippe , Jean-Baptiste Rivière , Veronica A Kinsler , Laurence Faivre , Pierre Vabres

Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause.

Nature genetics

Avec: Junhua Zhou , Elena A B Azizan , Claudia P Cabrera , Fabio L Fernandes-Rosa , Sheerazed Boulkroun , Giulia Argentesi , Emily Cottrell , Laurence Amar , Xilin Wu , Sam O'Toole , Emily Goodchild , Alison Marker , Russell Senanayake , Sumedha Garg , Tobias Åkerström , Samuel Backman , Suzanne Jordan , Daniel M Berney , Anna Gluck , Kate E Lines , Rajesh V Thakker , Antoinette Tuthill , Caroline Joyce , Juan Pablo Kaski , Fiona E Karet Frankl , Lou A Metherell , Ada E D Teo , Mark Gurnell , Laila Parvanta , William M Drake , Eva Wozniak , David Klinzing , Jyn Ling Kuan , Zenia Tiang , Celso E Gomez Sanchez , Per Hellman , Roger S Y Foo , Charles A Mein , Veronica A Kinsler , Peyman Björklund , Helen L Storr , Maria-Christina Zennaro , Morris J Brown

GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.

The Journal of investigative dermatology

Avec: Nicole Knöpfel , Davide Zecchin , Hanna Richardson , Sara Barberan-Martin , Thomas Cullup , Karolina Gholam , Simon Heales , Steve Krywawych , Pablo López-Balboa , Noreen Muwanga-Nanyonjo , Olumide Ogunbiyi , Clinda Puvirajasinghe , Lea Solman , Katherine Swarbrick , Samira B Syed , Zubair Tahir , Martin M Tisdall , Jeremy Allgrove , Alexander D Chesover , Sarah E Aylett , Thomas S Jacques , Fadil M Hannan , Ulrike Löbel , Robert K Semple , Rajesh V Thakker , Veronica A Kinsler

Mosaic BRAF Fusions Are a Recurrent Cause of Congenital Melanocytic Nevi Targetable by MAPK Pathway Inhibition.

The Journal of investigative dermatology

Avec: Sara Barberan Martin , Alicia Lopez Bruzos , Gavin Kelly , Stuart Horswell , Aimie Sauvadet , Dale Bryant , Davide Zecchin , Melissa Riachi , Fanourios Michailidis , Amir Sadri , Noreen Muwanga-Nanyonjo , Pablo Lopez-Balboa , Nicole Knöpfel , Neil Bulstrode , Alan Pittman , Iwei Yeh , Veronica A Kinsler

Vitamin D status in children with congenital melanocytic nevi.

Pediatric dermatology

Avec: Connor T Hughes , Jusvinder Dadhra , Veronica A Kinsler

Réseau de co-auteurs

Veronica A Kinsler 13 collaborations

Davide Zecchin 6 collaborations

Pierre Vabres 5 collaborations

Virginie Carmignac 5 collaborations

Arthur Sorlin 4 collaborations

Yannis Duffourd 4 collaborations

Paul Kuentz 4 collaborations

Jean-Benoît Courcet 4 collaborations

Didier Bessis 4 collaborations

David Geneviève 4 collaborations

Laurent Guibaud 4 collaborations

Christel Thauvin 4 collaborations

Laurence Faivre 4 collaborations

Jean-Baptiste Rivière 4 collaborations

Nicole Knöpfel 4 collaborations

Dale Bryant 4 collaborations

Stanislav S Kholmanskikh 3 collaborations

Bénédicte Demeer 3 collaborations

Judith St-Onge 3 collaborations

Philippine Garret 3 collaborations

Odile Boute 3 collaborations

Alain Bron 3 collaborations

Guillaume Captier 3 collaborations

Esther Carmi 3 collaborations

Bernard Devauchelle 3 collaborations

Catherine Gondry-Jouet 3 collaborations

Arnaud Lafon 3 collaborations

Michèle Mathieu-Dramard 3 collaborations

Julien Thevenon 3 collaborations

William B Dobyns 3 collaborations

Geneviève Bernard 3 collaborations

Francesca Faravelli 3 collaborations

M Elizabeth Ross 3 collaborations

Aimie Sauvadet 3 collaborations

Sara Barberan-Martin 3 collaborations

Fanourios Michailidis 3 collaborations

Robert K Semple 3 collaborations

Rajesh V Thakker 3 collaborations

Alan Pittman 3 collaborations

Melissa Riachi 3 collaborations

Charalambos Demetriou 2 collaborations

Sara Barberan Martin 2 collaborations

Mark Harland 2 collaborations

Veronica Kinsler 2 collaborations

Kate E Lines 2 collaborations

Fadil M Hannan 2 collaborations

S Polubothu 2 collaborations

V A Kinsler 2 collaborations

Stuart Horswell 2 collaborations

Karolina Gholam 2 collaborations

Noreen Muwanga-Nanyonjo 2 collaborations

Nicole Bender 1 collaboration

Siobhan Muthiah 1 collaboration

Sony Malhotra 1 collaboration

Jana Travnickova 1 collaboration

Zhiqiang Zeng 1 collaboration

Markus Böhm 1 collaboration

Sebastien Barbarot 1 collaboration

Catherine Cottrell 1 collaboration

Olivia Davies 1 collaboration

Eulalia Baselga 1 collaboration

Nigel P Burrows 1 collaboration

Joey Santiago Diaz 1 collaboration

Christine Fink 1 collaboration

Holger A Haenssle 1 collaboration

Rudolf Happle 1 collaboration

Jacquelyn Majerowski 1 collaboration

Marie Vincent 1 collaboration

Julia A Newton-Bishop 1 collaboration

D Tim Bishop 1 collaboration

Dawn Siegel 1 collaboration

E Elizabeth Patton 1 collaboration

Maya Topf 1 collaboration

Neil Rajan 1 collaboration

Beth Drolet 1 collaboration

Connor Hughes 1 collaboration

Ashley Ferro 1 collaboration

Sukhpreet Dubb 1 collaboration

Julia Gass 1 collaboration

Liz Hook 1 collaboration

Vijay Santhanam 1 collaboration

Anna K Gluck 1 collaboration

Mark Stevenson 1 collaboration

Asuka Inoue 1 collaboration

Lara Al-Olabi 1 collaboration

Daniël A Lionarons 1 collaboration

Anna C Thomas 1 collaboration

Lilian Hunt 1 collaboration

Nathan Wlodarchak 1 collaboration

Paula Aguilera 1 collaboration

Sarah Brand 1 collaboration

Cristina Carrera 1 collaboration

Hui Chen 1 collaboration

Greg Elgar 1 collaboration

Catherine A Harwood 1 collaboration

Michael Howell 1 collaboration

Lionel Larue 1 collaboration

Sam Loughlin 1 collaboration

Jeff MacDonald 1 collaboration

Josep Malvehy 1 collaboration

Sara Martin Barberan 1 collaboration

Vanessa Martins da Silva 1 collaboration

Miriam Molina 1 collaboration

Deborah Morrogh 1 collaboration

Dale Moulding 1 collaboration

Jérémie Nsengimana 1 collaboration

Joan-Anton Puig-Butillé 1 collaboration

Kiran Parmar 1 collaboration

Neil J Sebire 1 collaboration

Stephen Scherer 1 collaboration

Paulina Stadnik 1 collaboration

Philip Stanier 1 collaboration

Gemma Tell 1 collaboration

Regula Waelchli 1 collaboration

Mehdi Zarrei 1 collaboration

Susana Puig 1 collaboration

Véronique Bataille 1 collaboration

Yongna Xing 1 collaboration

Eugene Healy 1 collaboration

Gudrun E Moore 1 collaboration

Wei-Li Di 1 collaboration

Julia Newton-Bishop 1 collaboration

Julian Downward 1 collaboration

N McGuire 1 collaboration

L Al-Olabi 1 collaboration

W Baird 1 collaboration

N Bulstrode 1 collaboration

J Chalker 1 collaboration

D Josifova 1 collaboration

D Lomas 1 collaboration

J O'Hara 1 collaboration

J Ong 1 collaboration

D Rampling 1 collaboration

P Stadnik 1 collaboration

A Thomas 1 collaboration

E Wedgeworth 1 collaboration

N J Sebire 1 collaboration

Ruhina Maeshima 1 collaboration

Ignacio Del Valle Torres 1 collaboration

Mohammad Rabii 1 collaboration

William Baird 1 collaboration

Phoebe Jones 1 collaboration

Dorothy C Bennett 1 collaboration

Stephen Hart 1 collaboration

Lien Mestach 1 collaboration

Alistair Calder 1 collaboration

Ellen Denayer 1 collaboration

Eric Legius 1 collaboration

Elena Levtchenko 1 collaboration

An Van Laethem 1 collaboration

Hilde Brems 1 collaboration

Marie-Anne Morren 1 collaboration

Joseph M Sliepka 1 collaboration

Sarah C McGriff 1 collaboration

Linda Z Rossetti 1 collaboration

Peyman Bizargity 1 collaboration

Haley Streff 1 collaboration

Yi-Shan Lee 1 collaboration

Hongzheng Dai 1 collaboration

Grace Lee 1 collaboration

Vicky Ren 1 collaboration

Jill V Hunter 1 collaboration

Daniel J Curry 1 collaboration

Fernando Scaglia 1 collaboration

Adekunle M Adesina 1 collaboration

Irfan Ali 1 collaboration

Lindsay C Burrage 1 collaboration

Dana Marafi 1 collaboration

Cyril Mignot 1 collaboration

Emmanuelle Blanchard 1 collaboration

Marie-Hélène Aubriot-Lorton 1 collaboration

Victoria E R Parker 1 collaboration

Sylvie Fraitag 1 collaboration

Diana Rodriguez 1 collaboration

Rachel G Knox 1 collaboration

Anne Boland 1 collaboration

Robert Olaso 1 collaboration

Marc Delepine 1 collaboration

Véronique Darmency 1 collaboration

Chloé Quelin 1 collaboration

Paul Rollier 1 collaboration

Louise Goujon 1 collaboration

Sarah Grotto 1 collaboration

Yline Capri 1 collaboration

Marie-Line Jacquemont 1 collaboration

Sylvie Odent 1 collaboration

Daniel Amram 1 collaboration

Martin Chevarin 1 collaboration

Catherine Vincent-Delorme 1 collaboration

Benoît Catteau 1 collaboration

Alexis Arzimanoglou 1 collaboration

Malika Keddar 1 collaboration

Catherine Sarret 1 collaboration

Patrick Callier 1 collaboration

Jean-François Deleuze 1 collaboration

Christophe Philippe 1 collaboration

Junhua Zhou 1 collaboration

Elena A B Azizan 1 collaboration

Claudia P Cabrera 1 collaboration

Fabio L Fernandes-Rosa 1 collaboration

Sheerazed Boulkroun 1 collaboration

Giulia Argentesi 1 collaboration

Emily Cottrell 1 collaboration

Laurence Amar 1 collaboration

Xilin Wu 1 collaboration

Sam O'Toole 1 collaboration

Emily Goodchild 1 collaboration

Alison Marker 1 collaboration

Russell Senanayake 1 collaboration

Sumedha Garg 1 collaboration

Tobias Åkerström 1 collaboration

Samuel Backman 1 collaboration

Suzanne Jordan 1 collaboration

Daniel M Berney 1 collaboration

Anna Gluck 1 collaboration

Antoinette Tuthill 1 collaboration

Caroline Joyce 1 collaboration

Juan Pablo Kaski 1 collaboration

Fiona E Karet Frankl 1 collaboration

Lou A Metherell 1 collaboration

Ada E D Teo 1 collaboration

Mark Gurnell 1 collaboration

Laila Parvanta 1 collaboration

William M Drake 1 collaboration

Eva Wozniak 1 collaboration

David Klinzing 1 collaboration

Jyn Ling Kuan 1 collaboration

Zenia Tiang 1 collaboration

Celso E Gomez Sanchez 1 collaboration

Per Hellman 1 collaboration

Roger S Y Foo 1 collaboration

Charles A Mein 1 collaboration

Peyman Björklund 1 collaboration

Helen L Storr 1 collaboration

Maria-Christina Zennaro 1 collaboration

Morris J Brown 1 collaboration

Hanna Richardson 1 collaboration

Thomas Cullup 1 collaboration

Simon Heales 1 collaboration

Steve Krywawych 1 collaboration

Pablo López-Balboa 1 collaboration

Olumide Ogunbiyi 1 collaboration

Clinda Puvirajasinghe 1 collaboration

Lea Solman 1 collaboration

Katherine Swarbrick 1 collaboration

Samira B Syed 1 collaboration

Zubair Tahir 1 collaboration

Martin M Tisdall 1 collaboration

Jeremy Allgrove 1 collaboration

Alexander D Chesover 1 collaboration

Sarah E Aylett 1 collaboration

Thomas S Jacques 1 collaboration

Ulrike Löbel 1 collaboration

Alicia Lopez Bruzos 1 collaboration

Gavin Kelly 1 collaboration

Amir Sadri 1 collaboration

Pablo Lopez-Balboa 1 collaboration

Neil Bulstrode 1 collaboration

Iwei Yeh 1 collaboration

Connor T Hughes 1 collaboration

Jusvinder Dadhra 1 collaboration