Ezequiel D. Martin
Cambridge, ENG CB20QQ, United Kingdom
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 11 publications
Germline variants in UHRF1 are associated with multilocus imprinting disturbance in humans and mice.
Germline variants in UHRF1 are associated with multilocus imprinting disturbance in humans and mice.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: August 18, 2025
Familial NSD1 Exon 3 Deletion Associated with Phenotypic and Epigenetic Variability.
Journal: Genes
Published: August 06, 2025
Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome.
Journal: European journal of human genetics : EJHG
Published: March 03, 2023
Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.
Journal: Human molecular genetics
Published: February 16, 2023
Comparison of methylation episignatures in KMT2B- and KMT2D-related human disorders.
Journal: Epigenomics
Published: May 04, 2022
Elongin C (ELOC/TCEB1)-associated von Hippel-Lindau disease.
Journal: Human molecular genetics
Published: February 10, 2022
ImprintSeq, a novel tool to interrogate DNA methylation at human imprinted regions and diagnose multilocus imprinting disturbance.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 19, 2021
National Health Service interventions in England to improve care to Armed Forces veterans.
Journal: BMJ military health
Published: December 04, 2020
Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL.
Journal: Brain communications
Published: September 29, 2020
p38 MAPK in cardioprotection - are we there yet?
Journal: British journal of pharmacology
Published: July 18, 2014
Showing 1-11 of 11
Last Updated: 09/26/2026