R. Swiderski

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Regulation of gene expression in the mammalian eye and its relevance to eye disease

V. Sheffield, T. Casavant, T. Scheetz, 2006, Proceedings of the National Academy of Sciences.

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).

Thomas L Casavant, Edwin M Stone, Todd E Scheetz, 2006, Proceedings of the National Academy of Sciences of the United States of America.

Differential expression of extracellular matrix remodeling genes in a murine model of bleomycin-induced pulmonary fibrosis.

R. Swiderski, G. Hunninghake, S. Shapiro, 1998, The American journal of pathology.

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.

Edwin M Stone, Leslie G Biesecker, Val C Sheffield, 2005, American journal of human genetics.

Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2.

B J Keats, V. Sheffield, R. Swiderski, 2000, Gene.

Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss loci on human chromosome 9q and mouse chromosome 19.

V. Sheffield, M. Lovett, M. Batzer, 1998, Gene.

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

V. Sheffield, R. Swiderski, E. Stone, 1998, Nature Genetics.

Characterization and comparison of the human and mouse GLC1A glaucoma genes.

V. Sheffield, R. Swiderski, E. Stone, 1998, Genome research.

A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.

Young H. Kwon, V. Sheffield, R. Swiderski, 2003, American journal of ophthalmology.

Precocious appearance of cardiac troponin T pre-mRNAs during early avian embryonic skeletal muscle development in ovo.

R. Swiderski, M. Solursh, 1990, Developmental biology.

Structural defects in cilia of the choroid plexus, subfornical organ and ventricular ependyma are associated with ventriculomegaly

R. Swiderski, M. Cassell, C. Yeaman, 2012, Fluids and Barriers of the CNS.

Abnormal development of NG2+PDGFRα+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model

V. Sheffield, P. Nopoulos, D. Thedens, 2012, Nature Medicine.

Type II collagen is transiently expressed during avian cardiac valve morphogenesis

R. Swiderski, K. Daniels, M. Solursh, 1994, Developmental dynamics : an official publication of the American Association of Anatomists.

Localization of type II collagen, long form α1(IX) collagen, and short form α1(IX) collagen transcripts in the developing chick notochord and axial skeleton

R. Swiderski, M. Solursh, 1992 .

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate

Jean Bennett, Val C. Sheffield, Edwin M. Stone, 2000, Nature Genetics.

Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage.

V. Sheffield, R. Swiderski, Jian Huang, 2007, Investigative ophthalmology & visual science.

Expression of the Mf1 gene in developing mouse hearts: Implication in the development of human congenital heart defects

V. Sheffield, R. Swiderski, E. Stone, 1999, Developmental dynamics : an official publication of the American Association of Anatomists.

Glucocorticoid induction of the glaucoma gene MYOC in human and monkey trabecular meshwork cells and tissues.

V. Sheffield, R. Swiderski, E. Stone, 2001, Investigative ophthalmology & visual science.

The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23.

V. Sheffield, R. Swiderski, R. Carmi, 1999, Genomics.

A Mutation in the Mouse Ttc26 Gene Leads to Impaired Hedgehog Signaling

R. Swiderski, R. Mullins, Seongjin Seo, 2014, PLoS genetics.

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

Annie P. Chiang, V. Sheffield, T. Casavant, 2004, Proceedings of the National Academy of Sciences of the United States of America.

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

V. Sheffield, D. Mackey, R. Swiderski, 1999, Nature Genetics.

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.

V. Sheffield, R. Swiderski, E. Stone, 2004, Proceedings of the National Academy of Sciences of the United States of America.

Evidence supporting WNT2 as an autism susceptibility gene.

S. Folstein, J. Piven, V. Sheffield, 2001, American journal of medical genetics.

Winged Helix/Forkhead Transcription Factors and Rieger Syndrome

R. Swiderski, D. Nishimura, 2005 .

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

V. Sheffield, S. Jacobson, A. Fulton, 2001, Human molecular genetics.

Localization of MYOC transcripts in human eye and optic nerve by in situ hybridization.

V. Sheffield, R. Swiderski, E. Stone, 2000, Investigative ophthalmology & visual science.

A knockin mouse model of the Bardet–Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

V. Sheffield, D. Thedens, R. Swiderski, 2007, Proceedings of the National Academy of Sciences.

Expression pattern and in situ localization of the mouse homologue of the human MYOC (GLC1A) gene in adult brain.

V. Sheffield, R. Swiderski, E. Stone, 1999, Brain research. Molecular brain research.

Localization of type II collagen, long form alpha 1(IX) collagen, and short form alpha 1(IX) collagen transcripts in the developing chick notochord and axial skeleton.

R. Swiderski, M. Solursh, 1992, Developmental dynamics : an official publication of the American Association of Anatomists.

BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking

Val C. Sheffield, Edwin M. Stone, Darryl Nishimura, 2013, Journal of Cell Science.

Differential co-expression of long and short form type IX collagen transcripts during avian limb chondrogenesis in ovo.

R. Swiderski, M Solursh, R E Swiderski, 1992, Development.

Expression of the glaucoma gene myocilin (MYOC) in the human optic nerve head

Young H. Kwon, V. Sheffield, R. Swiderski, 2001, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.