Jawid M Fatih

5PUBLICATIONS
70CO-AUTHORS
Molecular targetsEpigenetics (incl. genome methylation and epigenomics)Infant and child healthGene mappingMechanobiology
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Publications (5)

|Mar 18, 2026
Familial medullary thyroid carcinoma secondary to an SLC30A9 intragenic deletion and translation reinitiation.

Donato Iacovazzo, Federica Begalli, Oniz Suleyman

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

Haowei Du, Zain Dardas, Angad Jolly

|Jan 04, 2023
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.

Moez Dawood, Gulsen Akay, Tadahiro Mitani

|Apr 02, 2021
A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy.

Ruizhi Duan, Nebal Waill Saadi, Christopher M Grochowski

|Feb 05, 2021
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.

Ahmed K Saad, Dana Marafi, Tadahiro Mitani

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Frequent Collaborators

5 joint publications

James R Lupski

4 joint publications

Dana Marafi

4 joint publications

Haowei Du

4 joint publications

Jennifer E Posey