Terry A. Braun

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease

Edwin M. Stone, Jeaneen L. Andorf, S. Scott Whitmore et al. · Ophthalmology · 2017 · 447 citations · Full text

Consecutive Families, Molecular Investigation, Retina +9

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Catherine A. Brownstein, Alan H. Beggs, Nils Homer et al. · Genome biology · 2014 · 432 citations · Full text

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 · 423 citations · Full text

Proteasome Degradation, Linkage Mapping, Genetics +16

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

Kirk Mykytyn, Darryl Nishimura, Charles Searby et al. · Nature Genetics · 2002 · 353 citations

Obesity, Metabolic Syndrome, Body Composition +13

Bardet–Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly

Kirk Mykytyn, Robert F. Mullins, Michael Andrews et al. · Proceedings of the National Academy of Sciences · 2004 · 345 citations · Full text