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

In depth analysis of the Sox4 gene locus that consists of sense and natural antisense transcripts

by King-Hwa Ling, Peter J. Brautigan, Sarah Moore, Rachel Fraser, Melody Pui-Yee Leong, Jia-Wen Leong, Shahidee Zainal Abidin, Han-Chung Lee, Pike-See Cheah, Joy M. Raison, Milena Babic, Young Kyung Lee, Tasman Daish, Deidre M. Mattiske, Jeffrey R. Mann, David L. Adelson, Paul Q. Thomas, Christopher N. Hahn, Hamish S. Scott
Published 2016-06-01