Rebecca S Tooze

Affiliations

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

ORCID: 0000-0003-1396-3765

Publications (5)

Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of

Journal of medical genetics

Avec: Eduardo Calpena , Stephen R F Twigg , Felice D'Arco , Auteur inconnu , Emma L Wakeling , Andrew O M Wilkie

BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.

Journal of medical genetics

Avec: Kerry A Miller , David A Cruz Walma , Daniel M Pinkas , Joshua C Bufton , William Richardson , Charlotte E Manning , Alice E Hunt , Julien Cros , Verity Hartill , Michael J Parker , Simon J McGowan , Stephen R F Twigg , Rod Chalk , David Staunton , David Johnson , Andrew O M Wilkie , Alex N Bullock

Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.

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

Avec: Kerry A Miller , Sigrid M A Swagemakers , Eduardo Calpena , Simon J McGowan , Odile Boute , Corinne Collet , David Johnson , Fanny Laffargue , Nicole de Leeuw , Jenny V Morton , Peter Noons , Charlotte W Ockeloen , Julie M Phipps , Tiong Yang Tan , Andrew T Timberlake , Clemence Vanlerberghe , Steven A Wall , Astrid Weber , Louise C Wilson , Elaine H Zackai , Irene M J Mathijssen , Stephen R F Twigg , Andrew O M Wilkie

The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.

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

Avec: Margaret F Lippincott , Wanxue Xu , Abigail A Smith , Xinyu Miao , Agathe Lafont , Omar Shennib , Gordon J Farley , Riwa Sabbagh , Angela Delaney , Maria Stamou , Lacey Plummer , Kathryn Salnikov , Neoklis A Georgopoulos , Veronica Mericq , Richard Quinton , Frederic Tran Mau-Them , Sophie Nambot , Asma Hamad , Helen Brittain , Eduardo Calpena , Andrew O M Wilkie , Marjolaine Willems , William F Crowley , Ravikumar Balasubramanian , Nathalie Lamarche-Vane , Erica E Davis , Stephanie B Seminara

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.

European journal of human genetics : EJHG

Avec: Laura M Watts , Marta Bertoli , Tania Attie-Bitach , Natalie Roux , Antonio Rausell , Cate R Paschal , Jessica L Zambonin , Cynthia J Curry , Blanche Martin , Lara Hawkes , Usha Kini , Stephen R F Twigg , Andrew O M Wilkie

Réseau de co-auteurs

Andrew O M Wilkie 5 collaborations

Stephen R F Twigg 4 collaborations

Eduardo Calpena 3 collaborations

Kerry A Miller 2 collaborations

Simon J McGowan 2 collaborations

David Johnson 2 collaborations

Felice D'Arco 1 collaboration

None None 1 collaboration

Emma L Wakeling 1 collaboration

David A Cruz Walma 1 collaboration

Daniel M Pinkas 1 collaboration

Joshua C Bufton 1 collaboration

William Richardson 1 collaboration

Charlotte E Manning 1 collaboration

Alice E Hunt 1 collaboration

Julien Cros 1 collaboration

Verity Hartill 1 collaboration

Michael J Parker 1 collaboration

Rod Chalk 1 collaboration

David Staunton 1 collaboration

Alex N Bullock 1 collaboration

Sigrid M A Swagemakers 1 collaboration

Odile Boute 1 collaboration

Corinne Collet 1 collaboration

Fanny Laffargue 1 collaboration

Nicole de Leeuw 1 collaboration

Jenny V Morton 1 collaboration

Peter Noons 1 collaboration

Charlotte W Ockeloen 1 collaboration

Julie M Phipps 1 collaboration

Tiong Yang Tan 1 collaboration

Andrew T Timberlake 1 collaboration

Clemence Vanlerberghe 1 collaboration

Steven A Wall 1 collaboration

Astrid Weber 1 collaboration

Louise C Wilson 1 collaboration

Elaine H Zackai 1 collaboration

Irene M J Mathijssen 1 collaboration

Margaret F Lippincott 1 collaboration

Wanxue Xu 1 collaboration

Abigail A Smith 1 collaboration

Xinyu Miao 1 collaboration

Agathe Lafont 1 collaboration

Omar Shennib 1 collaboration

Gordon J Farley 1 collaboration

Riwa Sabbagh 1 collaboration

Angela Delaney 1 collaboration

Maria Stamou 1 collaboration

Lacey Plummer 1 collaboration

Kathryn Salnikov 1 collaboration

Neoklis A Georgopoulos 1 collaboration

Veronica Mericq 1 collaboration

Richard Quinton 1 collaboration

Frederic Tran Mau-Them 1 collaboration

Sophie Nambot 1 collaboration

Asma Hamad 1 collaboration

Helen Brittain 1 collaboration

Marjolaine Willems 1 collaboration

William F Crowley 1 collaboration

Ravikumar Balasubramanian 1 collaboration

Nathalie Lamarche-Vane 1 collaboration

Erica E Davis 1 collaboration

Stephanie B Seminara 1 collaboration

Laura M Watts 1 collaboration

Marta Bertoli 1 collaboration

Tania Attie-Bitach 1 collaboration

Natalie Roux 1 collaboration

Antonio Rausell 1 collaboration

Cate R Paschal 1 collaboration

Jessica L Zambonin 1 collaboration

Cynthia J Curry 1 collaboration

Blanche Martin 1 collaboration

Lara Hawkes 1 collaboration

Usha Kini 1 collaboration