Purin Marin-Reina

4PUBLICATIONS
96CO-AUTHORS
Epidemiological modellingEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Image processing
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (4)

|Jul 01, 2026
De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

|Jun 26, 2026
Clinical and Genetic Characterization of Esophageal Atresia: A Contemporary Cohort Integrating Phenotyping and Genomic Testing.

|Oct 12, 2025
The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders.

Karen J Low, Julia Foreman, Rachel J Hobson

|Jun 06, 2019
PEDIA: prioritization of exome data by image analysis.

Tzung-Chien Hsieh, Martin A Mensah, Jean T Pantel

Pageof 1

Frequent Collaborators

1 joint publications

Martin A Mensah

1 joint publications

Jean T Pantel

1 joint publications

Dione Aguilar

1 joint publications

Omri Bar