S. J. Ansley

发表

Dissection of epistasis in oligogenic Bardet–Biedl syndrome

S. Fisher, R. Lewis, H. Dietz, 2006, Nature.

Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.

J. Lupski, M. Woods, N. Katsanis, 2001, American journal of human genetics.

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

Bethan E. Hoskins, N. Katsanis, J. Badano, 2004, Nature Genetics.

Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder

Bethan E. Hoskins, J. Lupski, P. Scambler, 2001, Science.

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

Bethan E. Hoskins, J. Lupski, P. Scambler, 2003, American journal of human genetics.

Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome

Tanya M. Teslovich, Stephen J. Ansley, Bethan E. Hoskins, 2003, Nature.

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.

Bethan E. Hoskins, D. Cutler, R. Lewis, 2003, Human molecular genetics.

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.

J. Lupski, P. Scambler, R. Lewis, 2002, American journal of human genetics.

A computational/functional genomics approach for the enrichment of the retinal transcriptome and the identification of positional candidate retinopathy genes

Kim C. Worley, Stephen J. Ansley, Nicholas Katsanis, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

J. Lupski, R. Lewis, N. Katsanis, 2003, American journal of human genetics.

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

Richard A. Lewis, Stephen J. Ansley, William S. Davidson, 2000, Nature Genetics.

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

Keith A. Boroevich, R. Lewis, N. Katsanis, 2004, Nature Genetics.

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport.

S. R. Wicks, R. Plasterk, N. Katsanis, 2004, Genes & development.

Regulation of neuroblast competence in Drosophila

Tanya M. Teslovich, R. Lewis, N. Katsanis, 2022 .