Cathryn Poulton

Publication Activity (10 Years)

Years Active: 2018-2019
Publications (10 Years): 3

Top Topics

Muscular Dystrophy

Gene Expression

Top Venues

American journal of medical genetics. Part A

Pediatric dermatology

Neurology. Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Cathryn Poulton, Dylan Gration, Kevin Murray, Gareth Baynam, Anne Halbert
Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab. Pediatric dermatology 36 (6) (2019)
Katrine Marie Johannesen, Diana Mitter, Robert Janowski, Christian Roth, Joseph Toulouse, Anne-Lise Poulat, Dorothee M Ville, Nicolas Chatron, Eva H Brilstra, Karin Geleijns, Alfred Peter Born, Scott McLean, Kimberly Nugent, Gareth S Baynam, Cathryn Poulton, Lauren Dreyer, Dylan Gration, Solveig Schulz, Andrea Dieckmann, Katherine L Helbig, Andreas Merkenschlager, Rami Abou Jamra, Anja Finck, Elena Gardella, Henrik Hjalgrim, Ghayda M Mirzaa, Francesco Brancati, Tatjana Bierhals, Jonas Denecke, Maja Hempel, Johannes R Lemke, Guido Rubboli, Petra Muschke, Renzo Guerrini, Annalisa Vetro, Dierk Niessing, Gaëtan Lesca, Rikke Steensjerre Moller
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy. Neurology. Genetics 5 (6) (2019)
Cathryn Poulton, Dimitar Azmanov, Vanessa Atkinson, John Beilby, Lisa Ewans, Dylan Gration, Lauren Dreyer, Vinutha Shetty, Ciara Peake, Emma McCormack, Richard Palmer, Barry Lewis, Hugh Dawkins, Stephanie Broley, Gareth Baynam
Silver Russel syndrome in an aboriginal patient from Australia. American journal of medical genetics. Part A 176 (12) (2018)