C. Searby

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Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).

Edwin M Stone, Val C Sheffield, Annie P. Chiang, 2004, American journal of human genetics.

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.

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

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

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.

Nancy F. Hansen, J. Lupski, J. Mullikin, 2010, American journal of human genetics.

Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes

V. Sheffield, E. Stone, D. Morgan, 2011, Proceedings of the National Academy of Sciences.

New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: Detection of candidate regions by homozygosity mapping

S. Borrego, M. Baiget, D. Nishimura, 2010, Molecular vision.

Impaired Function is a Common Feature of Neuropathy‐Associated Glycyl‐tRNA Synthetase Mutations

S. Züchner, Michael A. Gonzalez, A. Antonellis, 2014, Human mutation.

An open source and convenient method for the wide-spread testing of COVID-19 using deep throat sputum samples

V. Sheffield, S. Perlman, C. Carter, 2022, PeerJ.

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.

A Novel Protein LZTFL1 Regulates Ciliary Trafficking of the BBSome and Smoothened

V. Sheffield, D. Breslow, M. Nachury, 2011, PLoS genetics.

Loss of Bardet–Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia

V. Sheffield, M. Welsh, Alok S Shah, 2008, Proceedings of the National Academy of Sciences.

Counterpoint regarding an alternative hypothesis for why exposure to static magnetic and electric fields treat type 2 diabetes.

Ted B. Piorczynski, V. Sheffield, R. Weiss, 2021, American journal of physiology. Endocrinology and metabolism.

Response to: An alternative hypothesis for why exposure to static magnetic and electric fields treats type 2 diabetes.

Ted B. Piorczynski, V. Sheffield, R. Weiss, 2021, American journal of physiology. Endocrinology and metabolism.

Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure.

V. Sheffield, E. Stone, I. Pang, 2007, Human molecular genetics.

Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.

V. Ionasescu, C. Searby, R. Ionasescu, 1994, Human molecular genetics.

Screening of dominantly inherited Charcot–Marie–Tooth neuropathies

V. Ionasescu, C. Searby, R. Ionasescu, 1993, Muscle & nerve.

Charcot-Marie-Tooth neuropathy type 1A with both duplication and non-duplication.

D. Barker, V. Ionasescu, C. Searby, 1993, Human molecular genetics.

Becker muscular dystrophy recombinant DNA studies in identical twins

V. Ionasescu, C. Searby, R. Ionasescu, 1988, Muscle and Nerve.

Evidence for linkage of Charcot-Marie-Tooth neuropathy (CMT1) to apolipoprotein A2 (Apo-A2).

R. Ferrell, V. Ionasescu, C. Searby, 1988, American journal of human genetics.

Linkage between the loci for autosomal dominant neuronal Charcot-Marie-Tooth neuropathy (CMT1) and serum amyloid P component (APCS) on human chromosome 1.

A. Whitehead, V. Ionasescu, C. Searby, 1988, Cytogenetics and cell genetics.

Ectopic expression of BBS1 rescues male infertility, but not retinal degeneration, in a BBS1 mouse model

Michael G. Anderson, V. Sheffield, A. Hedberg-Buenz, 2021, Gene Therapy.

Exposure to Static Magnetic and Electric Fields Treats Type 2 Diabetes.

Ted B. Piorczynski, V. Sheffield, R. Weiss, 2020, Cell metabolism.

Disulfiram causes selective hypoxic cancer cell toxicity and radio-chemo-sensitization via redox cycling of copper.

V. Sheffield, D. Spitz, G. Buettner, 2017, Free radical biology & medicine.

A Dejerine‐Sottas neuropathy family with a gene mapped on chromosome 8

V. Ionasescu, M. Ross, C. Searby, 1996, Muscle & nerve.

Mutation in CATIP (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamics

V. Sheffield, A. Harlev, E. Lunenfeld, 2020, Journal of Medical Genetics.

Ectopic Expression of Human BBS4 Can Rescue Bardet-Biedl Syndrome Phenotypes in Bbs4 Null Mice

V. Sheffield, Xitiz Chamling, K. Rahmouni, 2013, PloS one.

Clinical evidence of decreased olfaction in Bardet–Biedl syndrome caused by a deletion in the BBS4 Gene

V. Sheffield, A. Baldi, A. Iannaccone, 2005, American journal of medical genetics. Part A.

Dejerine‐Sottas neuropathy in mother and son with same point mutation of PMP22 gene

V. Ionasescu, S. Chatkupt, C. Searby, 1997, Muscle & nerve.

Inherited ophthalmoplegia with intestinal pseudo-obstruction

V. Ionasescu, C. Searby, P. Bosch, 1983, Journal of the Neurological Sciences.

BBS mutations modify phenotypic expression of CEP290-related ciliopathies.

V. Sheffield, E. Stone, A. Drack, 2014, Human molecular genetics.

Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion.

D. Nishimura, C. Ayuso, C. Ramos, 2007, European journal of medical genetics.

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.

Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy

R. Werner, V. Ionasescu, C. Searby, 1996, Neurology.

Evaluation and molecular characterization of EHD1, a candidate gene for Bardet-Biedl syndrome 1 (BBS1).

V. Sheffield, E. Stone, E. Galperin, 1999, Gene.

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.

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.

V. Sheffield, E. Stone, D. Nishimura, 2010, American journal of human genetics.

Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform

V. Sheffield, E. Stone, R. Mullins, 2010, PLoS genetics.

An autosomal genomic screen for autism.

S. Folstein, J. Piven, V. Sheffield, 1999, American journal of medical genetics.

An autosomal genomic screen for autism. Collaborative linkage study of autism.

S. Folstein, J. Piven, V. Sheffield, 1999, American journal of medical genetics.

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

Val C. Sheffield, Edwin M. Stone, Anne B. Fulton, 2002, Nature Genetics.

Mice defective in Trpm6 show embryonic mortality and neural tube defects.

V. Sheffield, J. Stokes, P. Kirby, 2009, Human molecular genetics.

Mice defective in Trpm 6 show embryonic mortality and neural tube defects

V. Sheffield, J. Stokes, P. Kirby, 2009 .

A mouse model of Bardet-Biedl Syndrome has impaired fear memory, which is rescued by lithium treatment

V. Sheffield, J. Wemmie, C. Carter, 2020, bioRxiv.

A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes

Kevin B. Jones, V. Sheffield, J. Buckwalter, 2010, Proceedings of the National Academy of Sciences.

ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting

V. Sheffield, Seongjin Seo, Yalan Li, 2012, Proceedings of the National Academy of Sciences.

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome.

V. Sheffield, E. Stone, K. Rahmouni, 2005, Human molecular 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.

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

Alfonso Baldi, Val C. Sheffield, Edwin M. Stone, 2001, Nature Genetics.

Fibroblast clones for detection of Duchenne carriers.

V. Ionasescu, C. Searby, R. Ionasescu, 1983, The New England journal of medicine.

X‐linked dominant charcot–marie–tooth neuropathy with 15 cases in a family genetic linkage study

V. Ionasescu, C. Searby, R. Ionasescu, 1988, Muscle & nerve.

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).

V. Sheffield, S. Jacobson, A. Fulton, 2003, American journal of human genetics.

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

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

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye.

D Y Nishimura, V. Sheffield, D. Mackey, 2001, American journal of human genetics.

Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP

V. Sheffield, E. Stone, B. Tucker, 2019, Proceedings of the National Academy of Sciences.

Simultaneous detection of the enzyme activities of GPx1 and GPx4 guide optimization of selenium in cell biological experiments

G. Buettner, B. Wagner, C. Searby, 2020, Redox biology.

Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.

R. Gibbs, D. Muzny, M. Bainbridge, 2018, Blood.

Congenital myopathy is caused by mutation of HACD1

Adam P. DeLuca, V. Sheffield, T. Scheetz, 2013, Human molecular genetics.

Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).

V. Sheffield, V. Ionasescu, C. Searby, 1996, Human molecular genetics.

Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene.

S. Greenberg, V. Ionasescu, C. Searby, 1996, Journal of medical genetics.

Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients

E. Zackai, L. Biesecker, R. Hennekam, 2002, Human Genetics.

The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map.

V. Sheffield, J. McPherson, E. Green, 1999, Genome research.

Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy.

J. Haines, A. Summers, J. Trofatter, 1991, American journal of human genetics.

Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning.

V. Sheffield, D. Slusarski, J. Beck, 2008, Human molecular genetics.

UvA-DARE ( Digital Academic Repository ) Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus ( BBS 1 )

V. Sheffield, S. Jacobson, A. Fulton, 2003 .

Linkage studies of X-linked recessive spastic paraplegia using DNA probes

K. Davies, S. Kenwrick, V. Ionasescu, 1986, Human Genetics.

Exposure to Static Magnetic and Electric Fields Treats Type 2 Diabetes.

Ted B. Piorczynski, V. Sheffield, R. Weiss, 2020, Cell metabolism.

BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment

V. Sheffield, D. Nishimura, Seongjin Seo, 2017, PLoS genetics.

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.

Giant axonal neuropathy: normal protein composition of neurofilaments.

V. Ionasescu, P. Cancilla, P. Rubenstein, 1983, Journal of neurology, neurosurgery, and psychiatry.

Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein

V. Sheffield, Xitiz Chamling, C. A. Scott, 2017, PLoS genetics.

Severe Charcot‐Marie‐Tooth neuropathy type 1A with 1‐base pair deletion and frameshift mutation in the peripheral myelin protein 22 gene

V. Ruggieri, V. Ionasescu, R. Reisin, 1997, Muscle & nerve.

Transforming growth factor β2 (TGFβ2) signaling plays a key role in glucocorticoid-induced ocular hypertension

V. Sheffield, C. Searby, Prabhavathi Maddineni, 2018, The Journal of Biological Chemistry.

Autophagy stimulation reduces ocular hypertension in a murine glaucoma model via autophagic degradation of mutant myocilin

V. Sheffield, B. Levine, C. Searby, 2021, JCI insight.

Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma.

Michael G. Anderson, V. Sheffield, E. Stone, 2011, The Journal of clinical investigation.

Ocular-specific ER stress reduction rescues glaucoma in murine glucocorticoid-induced glaucoma.

Val C Sheffield, Abbot F Clark, V. Sheffield, 2014, The Journal of clinical investigation.

CRISPR-Cas9–based treatment of myocilin-associated glaucoma

V. Sheffield, F. Ran, Winston X. Yan, 2017, Proceedings of the National Academy of Sciences.

A BBSome subunit links ciliogenesis, microtubule stability, and acetylation.

V. Sheffield, T. Scheetz, J. Bazan, 2008, Developmental cell.

The BBSome in POMC and AgRP Neurons Is Necessary for Body Weight Regulation and Sorting of Metabolic Receptors

V. Sheffield, D. Thedens, G. Richerson, 2019, Diabetes.

ATF4 leads to glaucoma by promoting protein synthesis and ER client protein load

V. Sheffield, VijayKrishna Raghunathan, C. Searby, 2020, Nature Communications.

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.

The Centriolar Satellite Protein AZI1 Interacts with BBS4 and Regulates Ciliary Trafficking of the BBSome

V. Sheffield, Xitiz Chamling, Seongjin Seo, 2014, PLoS genetics.

Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene

V. Ionasescu, C. Searby, R. Ionasescu, 1995, Neurology.

Prenatal diagnosis of Duchenne muscular dystrophy based on Xp21.2 deletion

V. Ionasescu, C. Searby, R. Ionasescu, 1986, Neurology.

Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy.

V. Ionasescu, C. Searby, R. Ionasescu, 1996, American journal of medical genetics.

Subretinal gene therapy delays vision loss in a Bardet-Biedl Syndrome type 10 mouse model

V. Sheffield, L. Vandenberghe, A. Drack, 2022, Molecular therapy. Nucleic acids.

Progressive retinal degeneration of rods and cones in a Bardet-Biedl syndrome type 10 mouse model

V. Sheffield, A. Drack, Seongjin Seo, 2022, Disease models & mechanisms.

Knockout of Bbs10 results in lack of cone electrical function and progressive retinal degeneration of rods and cones

V. Sheffield, A. Drack, Seongjin Seo, 2022, bioRxiv.

Mapping of the gene for X‐linked dominant Charcot‐Marie‐Tooth neuropathy

J. Haines, J. Trofatter, V. Ionasescu, 1992, Neurology.

Manifesting carrier of Becker muscular dystrophy (BMD): clinical and recombinant DNA studies

V. Ionasescu, C. Searby, R. Ionasescu, 1989, Acta neurologica Scandinavica.

New point mutations and deletions of the connexin 32 gene in x-linked charcot-marie-tooth neuropathy

W. Meschino, V. Ionasescu, C. Searby, 1995, Neuromuscular Disorders.

Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).

Annie P. Chiang, V. Sheffield, T. Casavant, 2004, American journal of human genetics.

Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor.

Young H. Kwon, V. Sheffield, B. Davidson, 2001, Human molecular genetics.

Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma.

Michael G. Anderson, V. Sheffield, E. Stone, 2015, The Journal of clinical investigation.

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

Annie P. Chiang, V. Sheffield, T. Casavant, 2004 .

Charcot-Marie-Tooth neuropathy related to chromosome 1.

J. Haines, J. Trofatter, V. Ionasescu, 1992, American journal of medical genetics.

X‐linked recessive Charcot–Marie‐Tooth neuropathy: Clinical and genetic study

J. Haines, A. Summers, J. Trofatter, 1992, Muscle & nerve.

Progressive retinal degeneration of rods and cones in a Bardet-Biedl syndrome type 10 mouse model

V. Sheffield, A. Drack, Seongjin Seo, 2022, Disease models & mechanisms.

Disulfiram causes selective hypoxic cancer cell toxicity and radio-chemo-sensitization via redox cycling of copper.

V. Sheffield, D. Spitz, G. Buettner, 2018, Free radical biology & medicine.