C. Wise

C. Wise, R. Margraf, D. Viskochil, 2014, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

C. Wise, D. Burns, N. Paria, 2012, Human molecular genetics.

A Family-Based Likelihood Ratio Test for General Pedigree Structures That Allows for Genotyping Error and Missing Data

Stephen J Finch, Derek Gordon, Yang Yang, 2008, Human Heredity.

The Genetic Architecture of Adolescent Idiopathic Scoliosis

C. Wise, Anas M. Khanshour, 2018 .

The Genetic Architecture of Idiopathic Scoliosis

C. Wise, 2015 .

Molecular Genetics of Pediatric Orthopaedic Disorders

C. Wise, J. Rios, 2015, Springer New York.

Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India

K. Thangaraj, C. Wise, Swarkar Sharma, 2016, Scientific Reports.

A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis.

A. Goate, Carlos Cruchaga, Ping Yang, 2016, Human molecular genetics.

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

Penny A Jeggo, Claudia Kerzendorfer, P. Jeggo, 2011, Nature Genetics.

Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome

Nine V.A.M. Knoers, Pierre Sarda, Jumana Y. Al-Aama, 2011, Nature Genetics.

Regulatory polymorphisms modulate the expression of HLA class II molecules and promote autoimmunity

P. Gaffney, C. Cotsapas, N. Olsen, 2016, eLife.

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

Karl K. Murphy, D. Gordon, N. Ahituv, 2015, Nature Communications.

Genetics of adolescent idiopathic scoliosis

C. Wise, N. Paria, 2015 .

Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

A. C. Chinault, J. Lupski, P. Patel, 1992, Nature Genetics.

TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region.

M. Lovett, E. Jabs, M. Musy, 1997, Proceedings of the National Academy of Sciences of the United States of America.

A missense variant in SLC39A8 is associated with severe idiopathic scoliosis

C. Cruchaga, Carlos Cruchaga, P. Giampietro, 2018, Nature Communications.

CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis.

V. Sheffield, M. Lovett, A. Bowcock, 2007, American journal of human genetics.

AWARD NUMBER: W81XWH-11-1-0250 TITLE: Tibial Bowing and Pseudarthrosis in Neurofibromatosis Type 1 PRINCIPAL INVESTIGATOR: Dr. David Stevenson CONTRACTING ORGANIZATION: University of Utah

Nobuhiro, C. Wise, R. Margraf, 2015 .

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

Pui-Yan Kwok, Sampath Prahalad, Dafna Gladman, 2016 .

Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia.

C. Marshall, B. Alman, S. Robertson, 2015, American journal of human genetics.

Genetic sharing and heritability of paediatric age of onset autoimmune diseases

Hongzhe Li, Constantin Polychronakos, Yiran Guo, 2015, Nature Communications.

Mutations responsible for Larsen syndrome cluster in the FLNB protein

C. Wise, T. B. McClendon, R. Browne, 2005, Journal of Medical Genetics.

Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family.

B. Trask, H. Massa, M. Lovett, 1997, Genome research.

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

H. Waterham, C. Sarrauste de Menthière, S. Lesage, 2008, Human mutation.

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

E. Snyder, M. Lovett, Amy Bernard, 1998, Proceedings of the National Academy of Sciences of the United States of America.

Biallelic variants in DNA2 cause microcephalic primordial dwarfism

Martin A. M. Reijns, D. Sillence, J. Marsh, 2019, Human mutation.

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

D. Ledbetter, J. Lupski, P. Patel, 1992, Nature Genetics.

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

Lisa X. Yu, R. Henkelman, B. Ciruna, 2014, Nature Communications.

Evaluation of GPR50, hMel-1B, and ROR-&agr; Melatonin-related Receptors and the Etiology of Adolescent Idiopathic Scoliosis

V. Sheffield, J. Morcuende, C. Wise, 2010, Journal of pediatric orthopedics.

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

Sampath Prahalad, Karen N Conneely, Carol A Wise, 2012, Arthritis and rheumatism.

Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.

J. Lupski, E. Shooter, P. Patel, 1993, The New England journal of medicine.

Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis

A. Hinks, R. Donn, C. Wise, 2008, Arthritis and rheumatism.

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis

Ahmed E. Fetit, A. Wood, C. Wise, 2016, Genes & development.

Familial osteofibrous dysplasia. A case series.

L. Karol, C. Wise, David S Brown, 2005, The Journal of bone and joint surgery. American volume.

Whole-exome sequencing: discovering genetic causes of orthopaedic disorders.

C. Wise, B. S. Richards, H. Kim, 2013, The Journal of bone and joint surgery. American volume.

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

M. Hurles, C. Woods, H. Firth, 2013, Human mutation.

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

D. Le Paslier, M. Lovett, E. Jabs, 1994, Genomics.

Germline Saturation Mutagenesis Induces Skeletal Phenotypes in Mice

R. Hammer, B. Beutler, C. Ferreira, 2021, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

TBX6 missense variants expand the mutational spectrum in a non‐Mendelian inheritance disease

J. Lupski, Zhihong Wu, Jia Liu, 2020, Human mutation.

Infevers: An evolving mutation database for auto‐inflammatory syndromes

J. Hugot, H. Waterham, S. Lesage, 2004, Human mutation.

Gene dosage as a mechanism for a common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A.

J. Lupski, C. Wise, F. Greenberg, 1993, Progress in clinical and biological research.

Molecular Dissection of Somatic Skeletal Disease in Neurofibromatosis Type 1

Yared H. Kidane, C. Wise, N. Paria, 2022, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

J. Kere, You-Qiang Song, Zhihong Wu, 2018, Scientific Reports.

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

H. Hakonarson, T. Dwyer, B. Lie, 2015, The Journal of Steroid Biochemistry and Molecular Biology.

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

S. Blanton, C. Wise, J. Hecht, 2009, American journal of medical genetics. Part A.

Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis

Todd A. Johnson, T. Tsunoda, Long Guo, 2013, Nature Genetics.

Saturation mutagenesis defines novel mouse models of severe spine deformity.

J. Rosenfeld, B. Beutler, C. Wise, 2021, Disease models & mechanisms.

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

J. Al-Aama, J. Opitz, W. Reardon, 2012, American journal of medical genetics. Part A.

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

H. Hakonarson, S. Grant, D. Gordon, 2011, Human molecular genetics.

SNTG1, the gene encoding γ1-syntrophin: a candidate gene for idiopathic scoliosis

M. Lovett, A. Bowcock, J. Morcuende, 2004, Human Genetics.

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

M. Lovett, A. Bowcock, J. Morcuende, 2004, Human genetics.

Localization of Susceptibility to Familial Idiopathic Scoliosis

M. Lovett, A. Bowcock, C. Wise, 2000, Spine.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Martin A. M. Reijns, P. Tomançak, N. Prescott, 2017, Nature Genetics.

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

Carol Dobson-Stone, Maria Fraser, Lorraine Southam, 2000, European Journal of Human Genetics.

Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility

Joseph T. Glessner, Debra K. Shivers, J. Glessner, 2016, BMC Medical Genetics.

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

D. Cutler, K. Conneely, M. Zwick, 2013, Arthritis and rheumatism.

Apoptotic Gene Analysis in Idiopathic Talipes Equinovarus (Clubfoot)

S. Blanton, C. Wise, J. Hecht, 2007, Clinical orthopaedics and related research.

DTDST mutations are not a frequent cause of idiopathic talipes equinovarus (club foot)

S. Blanton, C. Wise, J. Hecht, 2002, Journal of medical genetics.

NAT2 variation and idiopathic talipes equinovarus (clubfoot)

S. Blanton, C. Wise, J. Hecht, 2007, American journal of medical genetics. Part A.

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

Todd A. Johnson, P. Sham, You-Qiang Song, 2014, Journal of Medical Genetics.

A novel method for analyzing genetic association with longitudinal phenotypes

Kuo-mei Chen, Stephen J Finch, Derek Gordon, 2013, Statistical applications in genetics and molecular biology.

Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome

J. Lupski, R. Gibbs, D. Muzny, 2023, HGG advances.

Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16–18, 2017, Dallas, Texas

B. Alman, O. Pourquié, P. Giampietro, 2018, American journal of medical genetics. Part A.

Genetic association and characterization of FSTL5 in isolated clubfoot.

Yared H. Kidane, C. Wise, J. Hecht, 2020, Human molecular genetics.

Genetic association and characterization of FSTL 5 in isolated clubfoot 1 2

Yared H. Kidane, Megan M. Wilson, C. Wise, 2020 .

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

Johannes-Peter Haas, Sampath Prahalad, Carl D Langefeld, 2012, Arthritis and rheumatism.

Fine-mapping the MHC locus in juvenile idiopathic arthritis (JIA) reveals genetic heterogeneity corresponding to distinct adult inflammatory arthritic diseases

S D Thompson, A. Hinks, W. Thomson, 2016, Annals of the rheumatic diseases.

A missense variant in SLC39A8 is associated with severe idiopathic scoliosis

Carlos Cruchaga, P. Giampietro, J. Morcuende, 2018, Nature Communications.

Association of an estrogen-sensitive Pax1-Col11a1-Mmp3 signaling axis with adolescent idiopathic scoliosis

Yared H. Kidane, N. Grishin, You-Qiang Song, 2023, bioRxiv.

Evidence of causality of low body mass index on risk of adolescent idiopathic scoliosis: a Mendelian randomization study

Y. Kamatani, M. Kubo, Y. Momozawa, 2023, Frontiers in Endocrinology.

An international meta-analysis confirms the association of BNC2 with adolescent idiopathic scoliosis

J. Kere, You-Qiang Song, Zhihong Wu, 2018, Scientific Reports.

CELSR2 is a candidate susceptibility gene in idiopathic scoliosis

J. Kere, A. Danielsson, C. Wise, 2017, PloS one.

Genomic characterization of the adolescent idiopathic scoliosis-associated transcriptome and regulome

N. Ahituv, C. Wise, W. Eckalbar, 2020, bioRxiv.

Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality

N. Ahituv, C. Wise, Jingjing Zhao, 2023, bioRxiv.

Universitet Candidate gene analysis and exome sequencing confirm LBX 1 as a susceptibility gene for idiopathic scoliosis

J. Kere, A. Danielsson, C. Wise, 2018 .

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

L. Muglia, J. Morcuende, C. Wise, 2011, BMC Medical Genetics.

An international meta-analysis confirms the association of BNC2 with adolescent idiopathic scoliosis

J. Kere, You-Qiang Song, Zhihong Wu, 2018, Scientific Reports.

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

Michael G. Barnes, A. Hinks, W. Thomson, 2012, Arthritis and rheumatism.

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

K. Conneely, T. Leong, D. Glass, 2012, Arthritis and rheumatism.

The impact of large-scale genomic methods in orthopaedic disorders: insights from genome-wide association studies.

C. Wise, B. S. Richards, N. Paria, 2014, The Journal of bone and joint surgery. American volume.

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

John J. Connolly, J. Glessner, H. Hakonarson, 2015, Nature Medicine.

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

James T. Elder, A. Bowcock, D. Gladman, 2012, American journal of human genetics.

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

J. Glessner, H. Hakonarson, Cecilia Kim, 2015, Nature Medicine.

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

John J. Connolly, J. Glessner, H. Hakonarson, 2015, Nature Medicine.

A Unique Set of Centrosome Proteins Requires Pericentrin for Spindle-Pole Localization and Spindle Orientation

S. Akbarian, S. Redick, C. Wise, 2014, Current Biology.

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

V. Pascual, J. Banchereau, O. Ramilo, 2007, The Journal of experimental medicine.

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

Derek Gordon, Stephen J. Finch, Steven Buyske, 2012, BMC Bioinformatics.