Ranad Shaheen
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Hedgehog Signaling Pathway Studies
Most-Cited Works
- → Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families(2014)467 cited
- → Identification and Partial Characterization of the Nonribosomal Peptide Synthetase Gene Responsible for Cereulide Production in Emetic Bacillus cereus(2005)283 cited
- → Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield(2016)257 cited
- → Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly(2011)222 cited
- → Mutation in WDR4 impairs tRNA m7G46 methylation and causes a distinct form of microcephalic primordial dwarfism(2015)197 cited
- → Emended descriptions of Clostridium acetobutylicum and Clostridium beijerinckii, and descriptions of Clostridium saccharoperbutylacetonicum sp. nov. and Clostridium saccharobutylicum sp. nov.(2001)183 cited
- → Genomic analysis of primordial dwarfism reveals novel disease genes(2014)163 cited
- → Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy(2013)163 cited
- → Characterizing the morbid genome of ciliopathies(2016)162 cited
- → Novel CENPJ mutation causes Seckel syndrome(2010)161 cited