Khalil Elbedour

Homozygosity mapping with SNP arrays identifies <i>TRIM32</i> , an E3 ubiquitin ligase, as a Bardet–Biedl syndrome gene ( <i>BBS11</i> )

Annie Chiang, John S. Beck, Hsan-Jan Yen et al. · Proceedings of the National Academy of Sciences · 2006 · 430 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4

Kirk Mykytyn, Terry A. Braun, Rivka Carmi et al. · Nature Genetics · 2001 · 269 citations

Life Sciences, Genetics, Molecular Genetics +11

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

DA Scott, ML Kraft, Rivka Carmi et al. · Human Mutation · 1998 · 252 citations

Medicine, Genetics, Molecular Genetics +11

Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor–like Gene as the Cause of Bardet-Biedl Syndrome (BBS3)

Annie Chiang, Darryl Nishimura, Charles Searby et al. · The American Journal of Human Genetics · 2004 · 229 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping

Val C. Sheffield, Rivka Carml, Anne Kwltek-Black et al. · Human Molecular Genetics · 1994 · 216 citations

Life Sciences, Genetics, Molecular Genetics +17