Josh Willoughby

Publication Activity (10 Years)

Years Active: 2018-2019
Publications (10 Years): 2

Top Topics

Molecular Docking

Intellectual Disability

Gene Expression

Top Venues

American journal of medical genetics. Part A

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

Publications

Josh Willoughby, Celia Duff-Farrier, Archana Desurkar, Manju Kurian, Ashok Raghavan, null null, Meena Balasubramanian
Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient. American journal of medical genetics. Part A 176 (5) (2019)
Thabo Michael Yates, Oon-Hui Ng, Amaka C Offiah, Josh Willoughby, Jonathan N Berg, null null, Diana S Johnson
Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant. American journal of medical genetics. Part A 179 (1) (2018)