Danny E Miller

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

G. Carvill, H. Mefford, S. Berkovic, 2023, medRxiv.

Genome Report: chromosome-scale genome assembly of the African spiny mouse (Acomys cahirinus)

K. Millen, Paul Wakenight, Daryl M. Okamura, 2023, G3.

CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing.

M. Galey, Connolly Steigerwald, Danny E Miller, 2023, Molecular genetics and metabolism.

A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development

S. Brugmann, Ellen Roets, S. Vergult, 2024, Nature communications.

Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia

M. Patel, Miranda Galey, Ellie Quinn, 2024, European journal of human genetics : EJHG.