Raja Fathallah

Mitchell-Riley syndrome iPSC exhibit reduced pancreatic endoderm differentiation due to an RFX6 mutation.

S. Nelson, Heike Wollmann, E. Guccione, 2020, Development.

A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing

J. Casanova, C. Bonnard, Z. Hojati, 2023, EMBO molecular medicine.

Deciphering the consequence of deep intronic variants: a progeroid syndrome caused by a TAPT1 mutation is revealed by combined RNA/SI-NET sequencing

Susanne, Wesam, J. Casanova, 2022, medRxiv.

Prevalence of MTHFR C677T Single Nucleotide Polymorphism in Genetically Isolated Populations in Jordan

R. Dajani, N. Hakooz, Y. Al-Motassem, 2013, Biochemical Genetics.

A novel AUTS2 variant in a patient with global developmental delay and intellectual disability

Raja Fathallah, Mohammad A. Shboul, Reem F. Darweesh, 2024, Jordan Journal of Biological Sciences.