Dana Marafi

25PUBLICATIONS
104CO-AUTHORS
HaematologyLife historiesEpigenetics (incl. genome methylation and epigenomics)Molecular evolutionNeurogenetics
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Publications (25)

|Jul 01, 2026
Biallelic Variant in HAPLN1 is Associated With Skeletal Dysplasia With or Without Congenital Heart Disease.

|Oct 07, 2025
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.

Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh

|Feb 17, 2025
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.

Avinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan

|Jun 26, 2024
Founder mutations and rare disease in the Arab world.

Dana Marafi

|Feb 15, 2024
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.

Mohammed Almannai, Dana Marafi, Maha S Zaki

|Dec 28, 2023
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.

Haowei Du, Zain Dardas, Angad Jolly

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Frequent Collaborators

18 joint publications

Jennifer E Posey

15 joint publications

James R Lupski

8 joint publications

Daniel G Calame

7 joint publications

Richard A Gibbs