A putative role for the aryl hydrocarbon receptor (AHR) gene in a patient with cyclical Cushing’s disease

by Sunita M. C. De Sousa, Jim Manavis, Jinghua Feng, Paul Wang, Andreas W. Schreiber, Hamish S. Scott, David J. Torpy
Published 2020-01-01

Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss

by Parvathy Venugopal, Lucia Gagliardi, Cecily Forsyth, Jinghua Feng, Kerry Phillips, Milena Babic, Nicola K. Poplawski, Hugh Young Rienhoff, Andreas W. Schreiber, Christopher N. Hahn, Anna L. Brown, Hamish S. Scott
Published 2020-02-01

Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia

by Carla De Angelis, Alicia B. Byrne, Rebecca Morrow, Jinghua Feng, Thuong Ha, Paul Wang, Andreas W. Schreiber, Milena Babic, Ajay Taranath, Nick Manton, Sarah L. King-Smith, Quenten Schwarz, Peer Arts, Hamish S. Scott, Christopher Barnett
Published 2021-02-01