List of works by Val C. Sheffield

2q24 deletions: Further characterization of clinical findings and their relation to the SCN cluster

scientific article published on 28 September 2012

A 30-Mile-per-Hour Headwind

scientific article published on 01 July 2018

A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis.

scientific article published on 6 April 2016

A case of autism and uniparental disomy of chromosome 1.

scientific article published on 11 May 2005

A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands

scientific article published on 01 April 1996

A constrained-likelihood approach to marker-trait association studies

scientific article

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

scientific article

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

scientific article

A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel Loci

scientific article

A genome-wide scan for common alleles affecting risk for autism

scientific journal article

A high-density microsatellite map of the ataxia-telangiectasia locus

scientific article published on 01 April 1995

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

scientific article

A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened

scientific article

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

scientific article

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

scientific article published on 05 November 2020

Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome.

scientific article

Allelic variants of human melatonin 1A receptor in patients with familial adolescent idiopathic scoliosis

scientific article (publication date: September 2003)

Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration

scientific article published on 01 December 1998

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

scientific article

Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.

scientific article

Autosomal dominant macular dystrophy in a large Canadian family.

scientific article published in February 2003

Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.

scientific article

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

scientific article

BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes

scientific article

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

scientific article published on 19 October 2017

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

scientific article

Bardet-Biedl syndrome 3 regulates the development of cranial base midline structures

scientific article published on 8 May 2016

Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function

scientific article

CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis.

scientific article published on 12 March 2007

CNV-ROC: A cost effective, computer-aided analytical performance evaluator of chromosomal microarrays

scientific article published on 13 January 2015

CRISPR-Cas9-based treatment of myocilin-associated glaucoma

scientific article

Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function

scientific journal article

Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration

scientific article

Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.

scientific article published in June 1999

Cartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice.

scientific article

Case of Stargardt disease caused by uniparental isodisomy

scientific article published on 01 May 2006

Catechol-O-methyl transferase Val158Met gene polymorphism in schizophrenia: working memory, frontal lobe MRI morphology and frontal cerebral blood flow.

scientific article published in March 2005

Characterization of Alu repeats that are associated with trinucleotide and tetranucleotide repeat microsatellites

scientific article published on 01 July 1997

Chromosomal assignment of 2900 tri- and tetranucleotide repeat markers using NIGMS somatic cell hybrid panel 2.

scientific article published on February 1996

Ciliopathy is differentially distributed in the brain of a Bardet-Biedl syndrome mouse model

scientific journal article

Clinical Characterization and Linkage Analysis of a Family With Congenital X-Linked Nystagmus and Deuteranomaly

article

Clinical and molecular characterization of a family affected with X-linked ocular albinism(OA1)

scientific article published on 01 December 1997

Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in theBBS4Gene

article

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

scientific article published on 27 May 2017

Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis

scientific article published in March 2003

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

scientific article

Complement factor H polymorphism p.Tyr402His and cuticular Drusen.

scientific article published in January 2007

Congenital myopathy is caused by mutation of HACD1.

scientific article published on 09 August 2013

Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes

scientific article

Copy number variations and primary open-angle glaucoma

scientific article published on 9 September 2011

Copy number variations on chromosome 12q14 in patients with normal tension glaucoma

scientific article

Cortical enlargement in autism is associated with a functional VNTR in the monoamine oxidase A gene

scientific article published on October 2008

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

scientific article (publication date: May 2003)

De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.

scientific article

De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

scientific article

Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population

scientific article

Development of a screening set for new (CAG/CTG)n dynamic mutations

scientific article

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71

scientific article

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

scientific article published on 08 January 2019

ESTprep: preprocessing cDNA sequence reads

scientific article published on 01 July 2003

Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice

scientific article

Evaluation of CAND2 and WNT7a as candidate genes for congenital idiopathic clubfoot.

scientific article published on 22 January 2009

Evaluation of FOXP2 as an autism susceptibility gene

scientific article

Evaluation of GPR50, hMel-1B, and ROR-alpha melatonin-related receptors and the etiology of adolescent idiopathic scoliosis.

scientific article published on September 2010

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

scientific article

Evaluation of embryonic and perinatal myosin gene mutations and the etiology of congenital idiopathic clubfoot.

scientific article

Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma

scientific article (publication date: November 2003)

Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene

scientific article

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

article

Evidence supporting WNT2 as an autism susceptibility gene.

scientific article published in July 2001

Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci

article

Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa

scientific article

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

scientific article

Familial cavitary optic disk anomalies: identification of a novel genetic locus.

scientific article published on 19 March 2007

Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint ⬇️

scientific article published on September 1, 1997

Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.

scientific article

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

scientific article

Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms.

scientific article

Functional impact of global rare copy number variation in autism spectrum disorders

scientific article published on 15 July 2010

Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome.

scientific article

Gene therapy and gene correction: targets, progress, and challenges for treating human diseases

scientific article published on 09 October 2020

Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil

scientific article (publication date: February 2002)

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

scientific article

Genome-wide analysis of copy number variants in age-related macular degeneration

scientific article published on 28 October 2010

Genome-wide identification of pseudogenes capable of disease-causing gene conversion.

scientific article

Genomics and the eye.

scientific article published on May 2011

Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model.

scientific article published on 14 February 2018

Germline mosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings with autism

scientific article published in June 2012

High-density rat radiation hybrid maps containing over 24,000 SSLPs, genes, and ESTs provide a direct link to the rat genome sequence.

scientific article published on April 2004

High-throughput gene discovery in the rat.

scientific article

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

scientific article

Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation.

scientific article published in September 1998

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.

scientific article published in July 1998

Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis.

scientific article

Identification of a gene that causes primary open angle glaucoma.

scientific article

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

scientific article

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

scientific article published in June 2001

Inactivation of Bardet-Biedl syndrome genes causes kidney defects

scientific article

Individual common variants exert weak effects on the risk for autism spectrum disorders

scientific journal article

LOXL1 Mutations Are Associated with Exfoliation Syndrome in Patients from the Midwestern United States

article

Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25) ⬇️

scientific article published on August 1, 1995

Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21

scientific article

Linkage of posterior polymorphous corneal dystrophy to 20q11

article

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

scientific article

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

scientific article

Mechanosensitive release of adenosine 5'-triphosphate through pannexin channels and mechanosensitive upregulation of pannexin channels in optic nerve head astrocytes: a mechanism for purinergic involvement in chronic strain

scientific article

Mitochondrial Variant G4132A is Associated with Familial Non-Arteritic Anterior Ischemic Optic Neuropathy in One Large Pedigree

scientific article published on 01 March 2007

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

scientific journal article

Molecular analysis of nondisjunction in Down syndrome patients with and without atrioventricular septal defects

scientific article published on 01 November 1995

Mutation in TDRD9 causes non-obstructive azoospermia in infertile men.

scientific article published on 23 May 2017

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

scientific article

Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse.

scientific article published on 12 October 2003

No Association Between Variations in the WDR36 Gene and Primary Open-Angle Glaucoma

article

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.

scientific article published on 04 August 2013

Nonsyndromic congenital retinal nonattachment gene maps to human chromosome band 10q21

scientific article published on 01 January 2000

Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy)

article

Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients

article

Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration

scientific article

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

scientific article

Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome.

scientific article published in January 2005

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

scientific article published on April 2014

Osteoarthritis-Like Changes in Bardet-Biedl Syndrome Mutant Ciliopathy Mice (Bbs1M390R/M390R): Evidence for a Role of Primary Cilia in Cartilage Homeostasis and Regulation of Inflammation.

scientific article published on 19 June 2018

Pax6 3' deletion results in aniridia, autism and mental retardation

scientific article

Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci.

scientific article published on November 1995

Pitfalls in homozygosity mapping.

scientific article

Posterior probability of linkage analysis of autism dataset identifies linkage to chromosome 16.

scientific article published on April 2008

Prenatal diagnosis of malignant osteopetrosis in Bedouin families by linkage analysis

scientific article published on 01 March 2001

Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.

scientific article

Rat, mouse, and primate models of chronic glaucoma show sustained elevation of extracellular ATP and altered purinergic signaling in the posterior eye.

scientific article published on May 2015

Recommendations for Genetic Testing of Inherited Eye Diseases

scientific article published on 01 September 2012

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

article

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

scientific article

Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins

scientific article published on 23 June 2015

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

scholarly article

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling

scientific article

Restoration of Aqueous Humor Outflow Following Transplantation of iPSC-Derived Trabecular Meshwork Cells in a Transgenic Mouse Model of Glaucoma.

scientific article published in April 2017

Results from screening over 9000 mutation-bearing mice for defects in the electroretinogram and appearance of the fundus.

scientific article published on December 2004

Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.

scientific article

Sets of short tandem repeat polymorphisms for efficient linkage screening of the human genome

scientific article published on 01 March 1995

Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1.

scientific article published on 11 September 2013

Survey of trinucleotide repeats in the human genome: assessment of their utility as genetic markers

scientific article published on 01 October 1995

Systematic screening for subtelomeric anomalies in a clinical sample of autism

scientific article published in April 2007

TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice

scientific article published on 5 January 2012

The BBSome Controls Energy Homeostasis by Mediating the Transport of the Leptin Receptor to the Plasma Membrane

scientific article

The C677T variant in the methylenetetrahydrofolate reductase gene is not associated with disease in cohorts of pseudoexfoliation glaucoma and primary open-angle glaucoma patients from Iowa.

scientific article

The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness.

scientific article

The absence of BBSome function decreases synaptogenesis and causes ectopic synapse formation in the retina

scientific article published on 20 May 2020

The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome

scientific article

The molecular genetics of eye diseases

scientific article published in August 2017

The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration

scientific article

The vision of typhoon lengkieki.

scientific article

Topical ocular sodium 4-phenylbutyrate rescues glaucoma in a myocilin mouse model of primary open-angle glaucoma.

scientific article published on 21 March 2012

Transcript annotation prioritization and screening system (TrAPSS) for mutation screening.

scientific article published in December 2007

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

scientific article

Transplantation of iPSC-derived TM cells rescues glaucoma phenotypes in vivo.

scientific article published on 06 June 2016

Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15

scientific article

Use of isolated inbred human populations for identification of disease genes

article

Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome

scientific article published on June 2004

Variation of Codons 1961 and 2177 of the Stargardt Disease Gene Is Not Associated With Age-Related Macular Degeneration

article

Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.

scientific article published on January 2011

Variations in the myocilin gene in patients with open-angle glaucoma

scientific article published on 01 September 2002

Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc.

scientific article published on 21 January 2013

X-linked Retinitis Pigmentosa Associated With a 2-Base Pair Insertion in Codon 99 of the RP3 Gene RPGR

article

cDNA expressed sequence tags of Trypanosoma brucei rhodesiense provide new insights into the biology of the parasite.

scientific article published on July 1995

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