Niema Ibrahim
Publications by Year
Research Areas
Genomics and Rare Diseases, RNA Research and Splicing, Genetic and Kidney Cyst Diseases, RNA modifications and cancer, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families(2014)467 cited
- → Expanding the genetic heterogeneity of intellectual disability(2017)176 cited
- → Characterizing the morbid genome of ciliopathies(2016)162 cited
- → The genetic landscape of familial congenital hydrocephalus(2017)146 cited
- → Molecular autopsy in maternal–fetal medicine(2017)123 cited
- → Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families(2015)121 cited
- → Genomic and phenotypic delineation of congenital microcephaly(2018)120 cited
- → Autozygome and high throughput confirmation of disease genes candidacy(2018)116 cited
- → Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development(2018)114 cited
- → Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants(2018)112 cited