Fatima Abidi
Greenwood Genetic Center(US)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Chromosomal and Genetic Variations, Epigenetics and DNA Methylation, Genomics and Chromatin Dynamics
Most-Cited Works
- → A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation(2009)614 cited
- → Molecular cloning and characterization of a nitrobenzylthioinosine-insensitive (ei) equilibrative nucleoside transporter from human placenta(1997)279 cited
- → Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation(2008)217 cited
- → A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor(2005)181 cited
- → Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth(2014)148 cited
- → Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability(2010)146 cited
- → Topology of a Human Equilibrative, Nitrobenzylthioinosine (NBMPR)-sensitive Nucleoside Transporter (hENT1) Implicated in the Cellular Uptake of Adenosine and Anti-cancer Drugs(2001)140 cited
- → Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability(2010)131 cited
- → CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes(2009)128 cited
- → Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C(2013)106 cited