Caitlin McKeown

Publications (2)

Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth.

Human mutation

Avec: Frederike L Harms , Padmini Parthasarathy , Dennis Zorndt , Malik Alawi , Sigrid Fuchs , Benjamin J Halliday , Colina McKeown , Hugo Sampaio , Natasha Radhakrishnan , Suresh K Radhakrishnan , Magali Gorce , Benjamin Navet , Alban Ziegler , Rani Sachdev , Stephen P Robertson , Sheela Nampoothiri , Kerstin Kutsche

Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population.

Molecular genetics and metabolism

Avec: Isaac Bernhardt , Leah E Frajman , Bryony Ryder , Erik Andersen , Callum Wilson , Colina McKeown , Tim Anderson , David Coman , Andrea L Vincent , Christina Buchanan , Richard Roxburgh , James Pitt , Mark De Hora , John Christodoulou , David R Thorburn , Francessa Wilson , Kylie M Drake , Megan Leask , Anne-Marie Yardley , Tony Merriman , Stephen Robertson , Alison G Compton , Emma Glamuzina

Réseau de co-auteurs

Colina McKeown 2 collaborations

Frederike L Harms 1 collaboration

Padmini Parthasarathy 1 collaboration

Dennis Zorndt 1 collaboration

Malik Alawi 1 collaboration

Sigrid Fuchs 1 collaboration

Benjamin J Halliday 1 collaboration

Hugo Sampaio 1 collaboration

Natasha Radhakrishnan 1 collaboration

Suresh K Radhakrishnan 1 collaboration

Magali Gorce 1 collaboration

Benjamin Navet 1 collaboration

Alban Ziegler 1 collaboration

Rani Sachdev 1 collaboration

Stephen P Robertson 1 collaboration

Sheela Nampoothiri 1 collaboration

Kerstin Kutsche 1 collaboration

Isaac Bernhardt 1 collaboration

Leah E Frajman 1 collaboration

Bryony Ryder 1 collaboration

Erik Andersen 1 collaboration

Callum Wilson 1 collaboration

Tim Anderson 1 collaboration

David Coman 1 collaboration

Andrea L Vincent 1 collaboration

Christina Buchanan 1 collaboration

Richard Roxburgh 1 collaboration

James Pitt 1 collaboration

Mark De Hora 1 collaboration

John Christodoulou 1 collaboration

David R Thorburn 1 collaboration

Francessa Wilson 1 collaboration

Kylie M Drake 1 collaboration

Megan Leask 1 collaboration

Anne-Marie Yardley 1 collaboration

Tony Merriman 1 collaboration

Stephen Robertson 1 collaboration

Alison G Compton 1 collaboration

Emma Glamuzina 1 collaboration