Professor, Pediatrics, University of Iowa College of Medicine
Medical Genetics
Dr. Val C. Sheffield, MD
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Sheffield works in the field of Medical Genetics. He studied medicine at University of Chicago Pritzker School of Medicine. University of Chicago Pritzker School of Medicine is ranked 10 in research and 19 in primary care medicine He over the years received 2 awards: "Elected Member" and "Investigator". Doctor Val C. Sheffield, MD is also published. He has 95 publications published. The lastest publication: "Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).'
Publications
- CNV-ROC: A cost effective, computer-aided analytical performance evaluator of chromosomal microarrays.
- Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms.
- Mechanosensitive release of adenosine 5'-triphosphate through pannexin channels and mechanosensitive upregulation of pannexin channels in optic nerve head astrocytes: ...
- The Centriolar Satellite Protein AZI1 Interacts with BBS4 and Regulates Ciliary Trafficking of the BBSome.
- Subretinal gene therapy of mice with Bardet-Biedl Syndrome type 1.
- Abnormal development of NG2(+)PDGFR-α(+) neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model.
- ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.
- 2q24 deletions: Further characterization of clinical findings and their relation to the SCN cluster.
- Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.
- Intrinsic Protein-Protein Interaction-mediated and Chaperonin-assisted Sequential Assembly of Stable Bardet-Biedl Syndrome Protein Complex, the BBSome.
- BBS proteins interact genetically with the IFT pathway to influence SHH related phenotypes.
- Germline mosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings with autism.
- Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes.
- TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice.
- An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium.
- A Novel Protein LZTFL1 Regulates Ciliary Trafficking of the BBSome and Smoothened.
- 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.
- Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma.
- Genomics and the eye.
- Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways.
- Primary Ciliary Dyskinesia Caused by Homozygous Mutation in DNAL1, Encoding Dynein Light Chain 1.
- Copy number variations on chromosome 12q14 in patients with normal tension glaucoma.
- Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome.
- Inactivation of Bardet-Biedl syndrome genes causes kidney defects.
- Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.
- Copy number variations and primary open-angle glaucoma.
- Light aversion in mice depends on nonimage-forming irradiance detection.
- Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes.
- Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity.
- Evaluation of GPR50, hMel-1B, and ROR-alpha melatonin-related receptors and the etiology of adolescent idiopathic scoliosis.
- Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.
- Evaluation of embryonic and perinatal myosin gene mutations and the etiology of congenital idiopathic clubfoot.
- Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.
- Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform.
- A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes.
- BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
- The blind leading the obese: the molecular pathophysiology of a human obesity syndrome.
- Cartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice.
- Evaluation of CAND2 and WNT7a as candidate genes for congenital idiopathic clubfoot.
- A BBSome subunit links ciliogenesis, microtubule stability, and acetylation.
- Cortical enlargement in autism is associated with a functional VNTR in the monoamine oxidase A gene.
- Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.
- Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome.
- Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia.
- Increased expression of the WNT antagonist sFRP-1 in glaucoma elevates intraocular pressure.
- Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.
- A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.
- LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States.
- Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage.
- A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.
- Familial cavitary optic disk anomalies: identification of a novel genetic locus.
- Systematic screening for subtelomeric anomalies in a clinical sample of autism.
- No association between variations in the WDR36 gene and primary open-angle glaucoma.
- Complement factor H polymorphism p.Tyr402His and cuticular Drusen.
- Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.
- Regulation of gene expression in the mammalian eye and its relevance to eye disease.
- Genome-wide identification of pseudogenes capable of disease-causing gene conversion.
- Case of Stargardt disease caused by uniparental isodisomy.
- Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).
- Prioritizing regions of candidate genes for efficient mutation screening.
- Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.
- A constrained-likelihood approach to marker-trait association studies.
- Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene.
- Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene.
- Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome.
- Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.
- 1274 full-open reading frames of transcripts expressed in the developing mouse nervous system.
- Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).
- Missense variations in the fibulin 5 gene and age-related macular degeneration.
- Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly.
- Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome.
- A comprehensive nonredundant expressed sequence tag collection for the developing Rattus norvegicus heart.
- High-density rat radiation hybrid maps containing over 24,000 SSLPs, genes, and ESTs provide a direct link to the rat genome sequence.
- High-throughput gene discovery in the rat.
- Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma.
- Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse.
- Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis.
- A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.
- Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
- A case-control comparison of the clinical characteristics of glaucoma and ocular hypertensive patients with and without the myocilin Gln368Stop mutation.
- Myocilin glaucoma.
- The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene.
- Variations in the myocilin gene in patients with open-angle glaucoma.
- Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
- Evaluation of FOXP2 as an autism susceptibility gene.
- Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia.
- HLA DQA1-DQB1 genotypes in Bedouin families with celiac disease.
- Performance of cochlear implant recipients with GJB2-related deafness.
- Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy.
- Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil.
- The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration.
- Ciliopathy is differentially distributed in the brain of a bardet-biedl syndrome mouse model.
- Ectopic Expression of Human BBS4 Can Rescue Bardet-Biedl Syndrome Phenotypes in Bbs4 Null Mice.
- Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).
Schools
U Of Chgo Div Of Bio Sci Pritzker Sch Of Med
Doctors Specialties
- Clinical Genetics
- Clinical Molecular Genetics
- Medical Genetics
Accepted Insurances
Awards
- Elected Member
- Investigator
Education
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UCSF -
University of Chicago Pritzker School of Medicine
Drug Facts
| NPI NUMBER | 1477605129 | |
| NPPES Provider LastName | SHEFFIELD | |
| NPPES Provider FirstName | VAL | |
| NPPES Provider ZIPCode | 324461917 | |
| NPPES Provider State | FL | |
| Specialty Description | Family Practice | |
| Total Claim Count | 5548.0 | |
| Distinct Opioid Count | 4.0 | |
| Opioid Claim Count | 375.0 | |
| Percent Opioid Claims | 6.76 |
Helpful Reviews
Medicare Facts
| National Provider Identifier [NPI] | 1477605129 |
| Last Name Of The Provider | SHEFFIELD |
| First Name Of The Provider | VAL |
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