List of works - Val C. Sheffield

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

scientific article published on 15 July 2010

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

scientific article

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

scientific article

Identification of a gene that causes primary open angle glaucoma.

scientific article

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

scientific journal article

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

scientific article

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

scientific article

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

scientific article published on June 1, 1998

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

scientific article

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

scientific journal article

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling

scientific article

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

scientific article published in June 1999

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

scientific article

Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of 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

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

scientific article

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

scientific 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

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

scientific journal article

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

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

scientific article

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

scientific article

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

scientific article published on November 12, 2012

Evidence supporting WNT2 as an autism susceptibility gene.

scientific article published in July 2001

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

scientific article (publication date: May 2003)

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

scientific article

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

scientific article

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

scientific article published on 01 December 1998

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

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

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

scientific article

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

scientific article

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

scientific article published on 04 August 2013

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

scientific article

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

scientific article published on July 1995

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

article

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

scientific article (publication date: November 2003)

Linkage of posterior polymorphous corneal dystrophy to 20q11

article

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

scientific article

CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis.

scientific article published on 12 March 2007

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

Use of isolated inbred human populations for identification of disease genes

article

Characterization and Comparison of the Human and MouseGLC1A Glaucoma Genes

scientific article published on April 1, 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

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

article

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

scientific article

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

scientific article

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

scientific article

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

scientific article

List of works by Val C. Sheffield

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

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

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

Identification of a gene that causes primary open angle glaucoma.

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

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

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

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

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

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

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling

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

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

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

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

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

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

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

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

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

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

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

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

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

Evidence supporting WNT2 as an autism susceptibility gene.

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

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

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

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

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

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

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

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

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

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

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

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

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

Linkage of posterior polymorphous corneal dystrophy to 20q11

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

CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis.

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

Use of isolated inbred human populations for identification of disease genes

Characterization and Comparison of the Human and MouseGLC1A Glaucoma Genes

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

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

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

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

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

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