Arveen Kamath

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

N. Brown, A. Hamosh, K. Flanigan, 2016, Brain : a journal of neurology.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project

A. Pagnamenta, Jenny C. Taylor, A. Offiah, 2023, Journal of medical genetics.

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

D. Baralle, J. Mill, H. Cross, 2018, bioRxiv.

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

Erez Lieberman Aiden, Ryan L. Collins, S. G. Temel, 2022, medRxiv.

Further delineation of Malan syndrome

R. Hennekam, C. Shaw-Smith, F. Alkuraya, 2018, Human mutation.

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

D. Baralle, J. Mill, H. Cross, 2018, bioRxiv.