Ezequiel Martin

ImprintSeq, a novel tool to interrogate DNA methylation at human imprinted regions and diagnose multilocus imprinting disturbance.

L. Bottolo, K. Ong, J. Radley, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Comparison of methylation episignatures in KMT2B- and KMT2D-related human disorders.

L. Cif, S. Banka, M. Kurian, 2022, Epigenomics.

Elongin C (ELOC/TCEB1)-associated von Hippel–Lindau disease

L. Bassaganyas, R. Houlston, Bryndís Yngvadóttir, 2022, Human molecular genetics.

Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL

Bryndís Yngvadóttir, E. Reid, L. Tee, 2020, Brain communications.

Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort

Soo-Mi Park, M. Maranian, P. Carroll, 2021, Clinical endocrinology.

Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome

H. Stewart, J. Morton, S. Lynch, 2023, European Journal of Human Genetics.