List of works - Carol Wise

A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females

scientific article

A YAC contig of approximately 3 Mb from human chromosome 5q31-->q33.

scientific article published on February 1994

A family-based likelihood ratio test for general pedigree structures that allows for genotyping error and missing data

scientific article

A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci

scientific article

A meta-analysis identifies adolescent idiopathic scoliosis association with LBX1 locus in multiple ethnic groups

scientific article published on 10 April 2014

A missense variant in SLC39A8 is associated with severe idiopathic scoliosis

scientific article published in Nature Communications

A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis

scientific article published in Scientific Reports

A novel method for analyzing genetic association with longitudinal phenotypes

scientific article published on 13 March 2013

A unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientation

scientific journal article

Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot.

scientific article

Apoptotic Gene Analysis in Idiopathic Talipes Equinovarus (Clubfoot)

article

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA

scientific article

Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation

scientific article published on 23 October 2008

Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis

scientific article published on July 2008

Blood leukocyte microarrays to diagnose systemic onset juvenile idiopathic arthritis and follow the response to IL-1 blockade

scientific article

Blood leukocyte microarrays to diagnose systemic onset juvenile idiopathic arthritis and follow the response to IL-1 blockade

CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis.

scientific article published on 12 March 2007

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

article

Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype

scientific article

Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses

article

Epistasis amongst PTPN2 and genes of the vitamin D pathway contributes to risk of juvenile idiopathic arthritis

scientific article published on 18 October 2014

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

scientific article published on September 2010

Extreme growth failure is a common presentation of ligase IV deficiency

scientific article

Familial Osteofibrous Dysplasia A Case Series

scientific article published on 01 October 2005

Genetic sharing and heritability of paediatric age of onset autoimmune diseases.

scientific article

Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis

scientific article

Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13

scientific journal article

Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes.

scientific article

Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways

scientific article

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations

scientific article published on 20 July 2012

Hierarchy of risk of childhood-onset rheumatoid arthritis conferred by HLA-DRB1 alleles encoding the shared epitope

scientific article published on March 2012

Identification of a homozygous PSTPIP1 mutation in a patient with a PAPA-like syndrome responding to canakinumab treatment

scientific article published on February 2013

Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome

scientific article

Infevers: an evolving mutation database for auto-inflammatory syndromes

scientific article published on September 2004

Inhibition of rat liver microsomal cytochrome P-450 steroid hydroxylase reactions by imidazole antimycotic agents

scientific article published in February 1986

Localization of a gene for familial recurrent arthritis

article

Localization of susceptibility to familial idiopathic scoliosis

scientific article published on September 2000

Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region

scientific article

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

scientific article

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

article

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases

scientific article

Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia

scientific article published in December 2015

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

scientific article published on 27 February 2011

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

scientific article

Mutations responsible for Larsen syndrome cluster in the FLNB protein

scientific article published on May 2006

NAT2 variation and idiopathic talipes equinovarus (clubfoot).

scientific article

Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1.

scientific article

Novel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia

scientific article published on 03 May 2020

Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway ⬇️

scientific article published on October 31, 2003

Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis

scientific article

SNTG1, the gene encoding gamma1-syntrophin: a candidate gene for idiopathic scoliosis

scientific article

Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly

scientific article published on 24 October 2012

Susceptibility to childhood-onset rheumatoid arthritis: investigation of a weighted genetic risk score that integrates cumulative effects of variants at five genetic loci

scientific article published on June 2013

TDT-HET: a new transmission disequilibrium test that incorporates locus heterogeneity into the analysis of family-based association data

scientific article

The Impact of Large-Scale Genomic Methods in Orthopaedic Disorders: Insights from Genome-Wide Association Studies

scientific article published on 01 March 2014

The association of PTPN22 rs2476601 with juvenile idiopathic arthritis is specific to females.

scientific article published on 20 August 2015

The cartilage matrisome in adolescent idiopathic scoliosis

scientific article published on 09 March 2020

The infevers autoinflammatory mutation online registry: update with new genes and functions.

scientific article

The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1

scientific article

Understanding genetic factors in idiopathic scoliosis, a complex disease of childhood

scientific article published on March 2008

Whole-exome sequencing: discovering genetic causes of orthopaedic disorders

scientific article published on December 2013

ptk7 mutant zebrafish models of congenital and idiopathic scoliosis implicate dysregulated Wnt signalling in disease

scientific article

List of works by Carol Wise

A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females

A YAC contig of approximately 3 Mb from human chromosome 5q31-->q33.

A family-based likelihood ratio test for general pedigree structures that allows for genotyping error and missing data

A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci

A meta-analysis identifies adolescent idiopathic scoliosis association with LBX1 locus in multiple ethnic groups

A missense variant in SLC39A8 is associated with severe idiopathic scoliosis

A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis

A novel method for analyzing genetic association with longitudinal phenotypes

A unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientation

Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot.

Apoptotic Gene Analysis in Idiopathic Talipes Equinovarus (Clubfoot)

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA

Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation

Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis

Blood leukocyte microarrays to diagnose systemic onset juvenile idiopathic arthritis and follow the response to IL-1 blockade

Blood leukocyte microarrays to diagnose systemic onset juvenile idiopathic arthritis and follow the response to IL-1 blockade

CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis.

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype

Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses

Epistasis amongst PTPN2 and genes of the vitamin D pathway contributes to risk of juvenile idiopathic arthritis

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

Extreme growth failure is a common presentation of ligase IV deficiency

Familial Osteofibrous Dysplasia A Case Series

Genetic sharing and heritability of paediatric age of onset autoimmune diseases.

Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis

Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13

Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes.

Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations

Hierarchy of risk of childhood-onset rheumatoid arthritis conferred by HLA-DRB1 alleles encoding the shared epitope

Identification of a homozygous PSTPIP1 mutation in a patient with a PAPA-like syndrome responding to canakinumab treatment

Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome

Infevers: an evolving mutation database for auto-inflammatory syndromes

Inhibition of rat liver microsomal cytochrome P-450 steroid hydroxylase reactions by imidazole antimycotic agents

Localization of a gene for familial recurrent arthritis

Localization of susceptibility to familial idiopathic scoliosis

Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases

Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

Mutations responsible for Larsen syndrome cluster in the FLNB protein

NAT2 variation and idiopathic talipes equinovarus (clubfoot).

Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1.

Novel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia

Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway ⬇️

Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis

SNTG1, the gene encoding gamma1-syntrophin: a candidate gene for idiopathic scoliosis

Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly

Susceptibility to childhood-onset rheumatoid arthritis: investigation of a weighted genetic risk score that integrates cumulative effects of variants at five genetic loci

TDT-HET: a new transmission disequilibrium test that incorporates locus heterogeneity into the analysis of family-based association data

The Impact of Large-Scale Genomic Methods in Orthopaedic Disorders: Insights from Genome-Wide Association Studies

The association of PTPN22 rs2476601 with juvenile idiopathic arthritis is specific to females.

The cartilage matrisome in adolescent idiopathic scoliosis

The infevers autoinflammatory mutation online registry: update with new genes and functions.

The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1

Understanding genetic factors in idiopathic scoliosis, a complex disease of childhood

Whole-exome sequencing: discovering genetic causes of orthopaedic disorders

ptk7 mutant zebrafish models of congenital and idiopathic scoliosis implicate dysregulated Wnt signalling in disease