Khalil Elbedour
Ben-Gurion University of the Negev(IL)Soroka Medical Center(IL)
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Genetic Syndromes and Imprinting, Hearing, Cochlea, Tinnitus, Genetics, Hedgehog Signaling Pathway Studies, RNA regulation and disease
Most-Cited Works
- → Homozygosity mapping with SNP arrays identifiesTRIM32, an E3 ubiquitin ligase, as a Bardet–Biedl syndrome gene (BBS11)(2006)426 cited
- → Identification of the gene that, when mutated, causes the human obesity syndrome BBS4(2001)269 cited
- → Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss(1998)251 cited
- → Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor–like Gene as the Cause of Bardet-Biedl Syndrome (BBS3)(2004)227 cited
- → Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping(1994)216 cited
- → PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy(2006)194 cited
- → Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15(1995)182 cited
- → Linkage of Bardet–Biedl syndrome to chromosome 16q and evidence for non–allelic genetic heterogeneity(1993)176 cited
- → Cardiac abnormalities in the Bardet‐Biedl syndrome: Echocardiographic studies of 22 patients(1994)119 cited
- → High Myopia Caused by a Mutation in LEPREL1, Encoding Prolyl 3-Hydroxylase 2(2011)111 cited