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Angewandte Chemie (International Ed. in English)|March 7, 2023
Rationally Modulating the Functions of Ni<sub>3</sub> Sn<sub>2</sub> -NiSnO<sub>x</sub> Nanocomposite Electrocatalysts towards Enhanced Hydrogen Evolution ReactionXiaomei Wang, Guifa Long, Bo Liu, et al.
Epilepsia|September 16, 2025
De novo pathogenic CSF1R variant implicates microglial dysfunction in pathogenesis of febrile infection-related epilepsy syndromeKristen S Fisher, Jesse M Levine, Alexander Ankar, et al.
Research Square|March 11, 2024
Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32James Lupski, Zain Dardas, Dana Marafi, et al.
American Journal of Medical Genetics. Part A|November 11, 2021
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease traitGhada M H Abdel-Salam, Ruizhi Duan, Mohamed S Abdel-Hamid, et al.
Clinical Genetics|May 9, 2023
Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traitsHasnaa M Elbendary, Dana Marafi, Ahmed K Saad, et al.
American Journal of Medical Genetics. Part A|April 2, 2021
A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathyRuizhi Duan, Nebal Waill Saadi, Christopher M Grochowski, et al.
NAR Cancer|December 15, 2022
Heterogeneous nuclear ribonucleoprotein K is overexpressed in acute myeloid leukemia and causes myeloproliferation in mice via altered <i>Runx1</i> splicingMarisa J L Aitken, Prerna Malaney, Xiaorui Zhang, et al.
European Journal of Human Genetics : EJHG|September 10, 2024
Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32Zain Dardas, Dana Marafi, Ruizhi Duan, et al.
Clinical Genetics|February 15, 2024
Expanding the phenotype of PPP1R21-related neurodevelopmental disorderMohammed Almannai, Dana Marafi, Maha S Zaki, et al.
Clinical Genetics|March 24, 2022
El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotypeMohammed Almannai, Dana Marafi, Ghada M H Abdel-Salam, et al.
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