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Research Output 1986 2019

  • 7553 Citations
  • 40 h-Index
  • 101 Article
  • 4 Chapter
  • 1 Book
  • 1 Conference contribution
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Article
2019
1 Citation (Scopus)

Biallelic variants in DNA2 cause microcephalic primordial dwarfism

Tarnauskaitė, Ž., Bicknell, L. S., Marsh, J. A., Murray, J. E., Parry, D. A., Logan, C. V., Bober, M. B., de Silva, D. C., Duker, A. L., Sillence, D., Wise, C. A., Jackson, A. P., Murina, O. & Reijns, M. A. M., Jan 1 2019, In : Human Mutation. 40, 8, p. 1063-1070 8 p.

Research output: Contribution to journalArticle

Open Access
Dwarfism
Adenosine Triphosphate
Adenosine Diphosphate
Genes
Body Size

Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis

Sadler, B., Haller, G., Antunes, L., Bledsoe, X., Morcuende, J., Giampietro, P., Raggio, C., Miller, N., Kidane, Y., Wise, C. A., Amarillo, I., Walton, N., Seeley, M., Johnson, D., Jenkins, C., Jenkins, T., Oetjens, M., Tong, R. S., Druley, T. E., Dobbs, M. B. & 1 others, Gurnett, C. A., Jan 1 2019, In : Journal of Medical Genetics.

Research output: Contribution to journalArticle

Open Access
Chromosome Duplication
Scoliosis
Chromosomes
Exome
Electronic Health Records

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

Chen, W., Lin, J., Wang, L., Li, X., Zhao, S., Liu, J., Akdemir, Z. C., Zhao, Y., Du, R., Ye, Y., Song, X., Zhang, Y., Yan, Z., Yang, X., Lin, M., Shen, J., Wang, S., Gao, N., Yang, Y., Liu, Y. & 16 others, Li, W., Liu, J., Zhang, N., Yang, X., Xu, Y., Zhang, J., Delgado, M. R., Posey, J. E., Qiu, G., Rios, J. J., Liu, P., Wise, C. A., Zhang, F., Wu, Z., Lupski, J. R. & Wu, N., Jan 1 2019, (Accepted/In press) In : Human Mutation.

Research output: Contribution to journalArticle

Scoliosis
Alleles
Exome
Gene Dosage
Genetic Models
2018
9 Citations (Scopus)

A missense variant in SLC39A8 is associated with severe idiopathic scoliosis

Haller, G., McCall, K., Jenkitkasemwong, S., Sadler, B., Antunes, L., Nikolov, M., Whittle, J., Upshaw, Z., Shin, J., Baschal, E., Cruchaga, C., Harms, M., Raggio, C., Morcuende, J. A., Giampietro, P., Miller, N. H., Wise, C., Gray, R. S., Solnica-Krezel, L., Knutson, M. & 2 others, Dobbs, M. B. & Gurnett, C. A., Dec 1 2018, In : Nature Communications. 9, 1, 4171.

Research output: Contribution to journalArticle

Scoliosis
Manganese
manganese
blood pressure
cholesterol
6 Citations (Scopus)

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

Japan Scoliosis Clinical Research Group (JSCRG) & Texas Scottish Rite Hospital for Children Clinical Group (TSRHCCG), Dec 1 2018, In : Scientific Reports. 8, 1, 11575.

Research output: Contribution to journalArticle

Scoliosis
Meta-Analysis
Genome-Wide Association Study
Far East
Computer Simulation
6 Citations (Scopus)

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

Ogura, Y., Takeda, K., Kou, I., Khanshour, A., Grauers, A., Zhou, H., Liu, G., Fan, Y. H., Zhou, T., Wu, Z., Takahashi, Y., Matsumoto, M., Kawakami, N., Tsuji, T., Uno, K., Suzuki, T., Ito, M., Minami, S., Kotani, T., Sakuma, T. & 55 others, Yanagida, H., Taneichi, H., Yonezawa, I., Sudo, H., Chiba, K., Hosogane, N., Nishida, K., Kakutani, K., Akazawa, T., Kaito, T., Watanabe, K., Harimaya, K., Taniguchi, Y., Shigematsu, H., Demura, S., Iida, T., Kono, K., Okada, E., Fujita, N., Yagi, M., Nakamura, M., Karol, L. A., Rathjen, K. E., Sucato, D. J., Birch, J. G., Johnston, C. E., Richards, B. S., Ramo, B., McIntosh, A. L., Herring, J. A., Milbrandt, T. A., Talwakar, V. R., Iwinski, H. J., Muchow, R. D., Tassone, J. C., Liu, X. C., Shindell, R., Schrader, W., Eberson, C., Lapinsky, A., Loder, R., Davey, J., Einarsdottir, E., Kere, J., Huang, D., Qiu, G., Xu, L., Qiu, Y., Wise, C. A., Song, Y. Q., Wu, N., Su, P., Gerdhem, P., Watanabe, K. & Ikegawa, S., Dec 1 2018, In : Scientific Reports. 8, 1, 4730.

Research output: Contribution to journalArticle

Scoliosis
Meta-Analysis
Genome-Wide Association Study
Computer Simulation
Population
8 Citations (Scopus)

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

SGP Consortium, Dec 6 2018, In : American Journal of Human Genetics. 103, 6, p. 1038-1044 7 p.

Research output: Contribution to journalArticle

DNA Polymerase II
Mutation
DNA-Directed DNA Polymerase
Growth
DNA Replication
3 Citations (Scopus)

Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci

Khanshour, A. M., Kou, I., Fan, Y., Einarsdottir, E., Makki, N., Kidane, Y. H., Kere, J., Grauers, A., Johnson, T. A., Paria, N., Patel, C., Singhania, R., Kamiya, N., Takeda, K., Otomo, N., Watanabe, K., Luk, K. D. K., Cheung, K. M. C., Herring, J. A., Rios, J. J. & 6 others, Ahituv, N., Gerdhem, P., Gurnett, C. A., Song, Y. Q., Ikegawa, S. & Wise, C. A., Nov 1 2018, In : Human Molecular Genetics. 27, 22, p. 3986-3998 13 p.

Research output: Contribution to journalArticle

Scoliosis
Meta-Analysis
Genome
Cartilage
Chromatin Immunoprecipitation
5 Citations (Scopus)

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

Giampietro, P. F., Pourquie, O., Raggio, C., Ikegawa, S., Turnpenny, P. D., Gray, R., Dunwoodie, S. L., Gurnett, C. A., Alman, B., Cheung, K., Kusumi, K., Hadley-Miller, N. & Wise, C. A., Jan 1 2018, In : American Journal of Medical Genetics, Part A. 176, 1, p. 253-256 4 p.

Research output: Contribution to journalArticle

Scoliosis
Inborn Genetic Diseases
Spine
Research
Research Design
2017
4 Citations (Scopus)

CELSR2 is a candidate susceptibility gene in idiopathic scoliosis

Einarsdottir, E., Grauers, A., Wang, J., Jiao, H., Escher, S. A., Danielsson, A., Simony, A., Andersen, M., Christensen, S. B., Åkesson, K., Kou, I., Khanshour, A. M., Ohlin, A., Wise, C., Ikegawa, S., Kere, J. & Gerdhem, P., Dec 1 2017, In : PLoS One. 12, 12, e0189591.

Research output: Contribution to journalArticle

scoliosis
Scoliosis
Genes
Association reactions
Pedigree
15 Citations (Scopus)

Genome-Wide Association Meta-Analysis Reveals Novel Juvenile Idiopathic Arthritis Susceptibility Loci

McIntosh, L. A., Marion, M. C., Sudman, M., Comeau, M. E., Becker, M. L., Bohnsack, J. F., Fingerlin, T. E., Griffin, T. A., Haas, J. P., Lovell, D. J., Maier, L. A., Nigrovic, P. A., Prahalad, S., Punaro, M., Rosé, C. D., Wallace, C. A., Wise, C. A., Moncrieffe, H., Howard, T. D., Langefeld, C. D. & 1 others, Thompson, S. D., Nov 1 2017, In : Arthritis and Rheumatology. 69, 11, p. 2222-2232 11 p.

Research output: Contribution to journalArticle

Juvenile Arthritis
Genome-Wide Association Study
Meta-Analysis
Single Nucleotide Polymorphism
Rheumatoid Factor
26 Citations (Scopus)

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Reynolds, J. J., Bicknell, L. S., Carroll, P., Higgs, M. R., Shaheen, R., Murray, J. E., Papadopoulos, D. K., Leitch, A., Murina, O., Tarnauskaitė, Ž., Wessel, S. R., Zlatanou, A., Vernet, A., von Kriegsheim, A., Mottram, R. M. A., Logan, C. V., Bye, H., Li, Y., Brean, A., Maddirevula, S. & 42 others, Challis, R. C., Skouloudaki, K., Almoisheer, A., Alsaif, H. S., Amar, A., Prescott, N. J., Bober, M. B., Duker, A., Faqeih, E., Seidahmed, M. Z., Al Tala, S., Alswaid, A., Ahmed, S., Al-Aama, J. Y., Altmüller, J., Al Balwi, M., Brady, A. F., Chessa, L., Cox, H., Fischetto, R., Heller, R., Henderson, B. D., Hobson, E., Nürnberg, P., Percin, E. F., Peron, A., Spaccini, L., Quigley, A. J., Thakur, S., Wise, C. A., Yoon, G., Alnemer, M., Tomancak, P., Yigit, G., Taylor, A. M. R., Reijns, M. A. M., Simpson, M. A., Cortez, D., Alkuraya, F. S., Mathew, C. G., Jackson, A. P. & Stewart, G. S., Feb 13 2017, (Accepted/In press) In : Nature Genetics.

Research output: Contribution to journalArticle

Dwarfism
DNA Replication
Mutation
Genome
Chromosomal Instability
2016
27 Citations (Scopus)

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

Haller, G., Alvarado, D., Mccall, K., Yang, P., Cruchaga, C., Harms, M., Goate, A., Willing, M., Morcuende, J. A., Baschal, E., Miller, N. H., Wise, C., Dobbs, M. B. & Gurnett, C. A., Jan 1 2016, In : Human Molecular Genetics. 25, 1, p. 202-209 8 p.

Research output: Contribution to journalArticle

Scoliosis
Extracellular Matrix
Genes
Collagen
Exome
25 Citations (Scopus)

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

Bowes, J., Cobb, J., Ainsworth, H. C., Marion, M. C., Comeau, M. E., Sudman, M., Han, B., Becker, M. L., Bohnsack, J. F., de Bakker, P. I. W., Haas, J. P., Hazen, M., Love, D. J., Nigrovic, P. A., Nordal, E., Punnaro, M., Rosenberg, A. M., Rygg, M., Smith, S. L., Wise, C. A. & 9 others, Videm, V., Wedderburn, L. R., Yarwood, A., Yeung, R. S. M., Prahalad, S., Langefeld, C. D., Raychaudhuri, S., Thompson, S. D. & Thomson, W., Dec 20 2016, (Accepted/In press) In : Annals of the Rheumatic Diseases.

Research output: Contribution to journalArticle

Genetic Heterogeneity
Juvenile Arthritis
HLA Antigens
Arthritis
Rheumatoid Factor
34 Citations (Scopus)

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

The Deciphering Developmental Disorders Study, Oct 1 2016, In : Genes and Development. 30, 19, p. 2158-2172 15 p.

Research output: Contribution to journalArticle

Microcephaly
Mitosis
Chromosomes
Mutation
Chromatids
44 Citations (Scopus)

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

Raj, P., Rai, E., Song, R., Khan, S., Wakeland, B. E., Viswanathan, K., Arana, C., Liang, C., Zhang, B., Dozmorov, I., Carr-Johnson, F., Mitrovic, M., Wiley, G. B., Kelly, J. A., Lauwerys, B. R., Olsen, N. J., Cotsapas, C., Garcia, C. K., Wise, C. A., Harley, J. B. & 9 others, Nath, S. K., James, J. A., Jacob, C. O., Tsao, B. P., Pasare, C., Karp, D. R., Li, Q. Z., Gaffney, P. M. & Wakeland, E. K., Feb 15 2016, In : eLife. 5, FEBRUARY2016, e12089.

Research output: Contribution to journalArticle

Polymorphism
Autoimmunity
Systemic Lupus Erythematosus
Molecules
D region
9 Citations (Scopus)

Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility

Finkel, T. H., Li, J., Wei, Z., Wang, W., Zhang, H., Behrens, E. M., Reuschel, E. L., Limou, S., Wise, C., Punaro, M., Becker, M. L., Munro, J. E., Flatø, B., Førre, Ø., Thompson, S. D., Langefeld, C. D., Glass, D. N., Glessner, J. T., Kim, C. E., Frackelton, E. & 13 others, Shivers, D. K., Thomas, K. A., Chiavacci, R. M., Hou, C., Xu, K., Snyder, J., Qiu, H., Mentch, F., Wang, K., Winkler, C. A., Lie, B. A., Ellis, J. A. & Hakonarson, H., Mar 22 2016, In : BMC Medical Genetics. 17, 1, 24.

Research output: Contribution to journalArticle

Juvenile Arthritis
Single Nucleotide Polymorphism
Genotype
Chemokine Receptors
Genome-Wide Association Study
6 Citations (Scopus)

Whole Exome screening identifies novel and recurrent wisp3 mutations causing progressive pseudorheumatoid dysplasia in Jammu and Kashmir-India

Rai, E., Mahajan, A., Kumar, P., Angural, A., Dhar, M. K., Razdan, S., Thangaraj, K., Wise, C. A., Ikegawa, S., Pandita, K. K. & Sharma, S., Jun 13 2016, In : Scientific Reports. 6, 27684.

Research output: Contribution to journalArticle

Exome
Genetic Counseling
Pedigree
India
Mutation
2015
61 Citations (Scopus)

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

TSRHC Scoliosis Clinical Group & Japan Scoliosis Clinical Research Group, 2015, In : Nature Communications. 6, 6452.

Research output: Contribution to journalArticle

Pediatrics
Scoliosis
loci
Muscle
Transcription Factors
11 Citations (Scopus)

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

Ellis, J. A., Scurrah, K. J., Li, Y. R., Ponsonby, A. L., Chavez, R. A., Pezic, A., Dwyer, T., Akikusa, J. D., Allen, R. C., Becker, M. L., Thompson, S. D., Lie, B. A., Flatø, B., Førre, Ø., Punaro, M., Wise, C., Finkel, T. H., Hakonarson, H. & Munro, J. E., 2015, In : Journal of Steroid Biochemistry and Molecular Biology. 145, p. 113-120 8 p.

Research output: Contribution to journalArticle

Juvenile Arthritis
Vitamin D
Genes
Single Nucleotide Polymorphism
Proxy
31 Citations (Scopus)

Genetic sharing and heritability of paediatric age of onset autoimmune diseases

Li, Y. R., Zhao, S. D., Li, J., Bradfield, J. P., Mohebnasab, M., Steel, L., Kobie, J., Abrams, D. J., Mentch, F. D., Glessner, J. T., Guo, Y., Wei, Z., Connolly, J. J., Cardinale, C. J., Bakay, M., Li, D., Maggadottir, S. M., Thomas, K. A., Qui, H., Chiavacci, R. M. & 43 others, Kim, C. E., Wang, F., Snyder, J., Flatø, B., Førre, O., Denson, L. A., Thompson, S. D., Becker, M. L., Guthery, S. L., Latiano, A., Perez, E., Resnick, E., Strisciuglio, C., Staiano, A., Miele, E., Silverberg, M. S., Lie, B. A., Punaro, M., Russell, R. K., Wilson, D. C., Dubinsky, M. C., Monos, D. S., Annese, V., Munro, J. E., Wise, C., Chapel, H., Cunningham-Rundles, C., Orange, J. S., Behrens, E. M., Sullivan, K. E., Kugathasan, S., Griffiths, A. M., Satsangi, J., Grant, S. F. A., Sleiman, P. M. A., Finkel, T. H., Polychronakos, C., Baldassano, R. N., Luning Prak, E. T., Ellis, J. A., Li, H., Keating, B. J. & Hakonarson, H., Oct 9 2015, In : Nature Communications. 6, 8442.

Research output: Contribution to journalArticle

Pediatrics
Age of Onset
Autoimmune Diseases
Single Nucleotide Polymorphism
Genome-Wide Association Study
2 Citations (Scopus)

Genetics of adolescent idiopathic scoliosis

Paria, N. & Wise, C. A., Mar 1 2015, In : Seminars in Spine Surgery. 27, 1, p. 9-15 7 p.

Research output: Contribution to journalArticle

Scoliosis
Animal Models
Genetic Association Studies
Research
Pediatrics
77 Citations (Scopus)

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

Li, Y. R., Li, J., Zhao, S. D., Bradfield, J. P., Mentch, F. D., Maggadottir, S. M., Hou, C., Abrams, D. J., Chang, D., Gao, F., Guo, Y., Wei, Z., Connolly, J. J., Cardinale, C. J., Bakay, M., Glessner, J. T., Li, D., Kao, C., Thomas, K. A., Qiu, H. & 46 others, Chiavacci, R. M., Kim, C. E., Wang, F., Snyder, J., Richie, M. D., Flatø, B., Førre, Ø., Denson, L. A., Thompson, S. D., Becker, M. L., Guthery, S. L., Latiano, A., Perez, E., Resnick, E., Russell, R. K., Wilson, D. C., Silverberg, M. S., Annese, V., Lie, B. A., Punaro, M., Dubinsky, M. C., Monos, D. S., Strisciuglio, C., Staiano, A., Miele, E., Kugathasan, S., Ellis, J. A., Munro, J. E., Sullivan, K. E., Wise, C. A., Chapel, H., Cunningham-Rundles, C., Grant, S. F. A., Orange, J. S., Sleiman, P. M. A., Behrens, E. M., Griffiths, A. M., Satsangi, J., Finkel, T. H., Keinan, A., Prak, E. T. L., Polychronakos, C., Baldassano, R. N., Li, H., Keating, B. J. & Hakonarson, H., Sep 8 2015, In : Nature Medicine. 21, 9, p. 1018-1027 10 p.

Research output: Contribution to journalArticle

Pediatrics
Autoimmune Diseases
Meta-Analysis
Age of Onset
Genes
12 Citations (Scopus)

Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia

Gray, M. J., Kannu, P., Sharma, S., Neyt, C., Zhang, D., Paria, N., Daniel, P. B., Whetstone, H., Sprenger, H. G., Hammerschmidt, P., Weng, A., Dupuis, L., Jobling, R., Mendoza-Londono, R., Dray, M., Su, P., Wilson, M. J., Kapur, R. P., McCarthy, E. F., Alman, B. A. & 12 others, Howard, A., Somers, G. R., Marshall, C. R., Manners, S., Flanagan, A. M., Rathjen, K. E., Karol, L. A., Crawford, H., Markie, D. M., Rios, J. J., Wise, C. A. & Robertson, S. P., Dec 3 2015, In : American Journal of Human Genetics. 97, 6, p. 837-847 11 p.

Research output: Contribution to journalArticle

Exons
Osteogenesis
Periosteum
Mutation
Growth Plate
10 Citations (Scopus)

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

Chiaroni-Clarke, R. C., Li, Y. R., Munro, J. E., Chavez, R. A., Scurrah, K. J., Pezic, A., Akikusa, J. D., Allen, R. C., Piper, S. E., Becker, M. L., Thompson, S. D., Lie, B. A., Flato, B., Forre, O., Punaro, M., Wise, C., Saffery, R., Finkel, T. H., Hakonarson, H., Ponsonby, A. L. & 1 others, Ellis, J. A., Oct 1 2015, In : Genes and Immunity. 16, 7, p. 495-498 4 p.

Research output: Contribution to journalArticle

Juvenile Arthritis
Autoimmune Diseases
Odds Ratio
Confidence Intervals
Inborn Genetic Diseases
2014
37 Citations (Scopus)

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

Londono, D., Kou, I., Johnson, T. A., Sharma, S., Ogura, Y., Tsunoda, T., Takahashi, A., Matsumoto, M., Herring, J. A., Lam, T. P., Wang, X., Tam, E. M. S., Song, Y. Q., Fan, Y. H., Chan, D., Cheah, K. S. E., Qiu, X., Jiang, H., Huang, D., Su, P. & 9 others, Sham, P., Cheung, K. M. C., Luk, K. D. K., Gordon, D., Qiu, Y., Cheng, J., Tang, N., Ikegawa, S. & Wise, C. A., 2014, In : Journal of Medical Genetics. 51, 6, p. 401-406 6 p.

Research output: Contribution to journalArticle

Scoliosis
Ethnic Groups
Meta-Analysis
Genome-Wide Association Study
Genes
43 Citations (Scopus)

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

Chen, C. T., Hehnly, H., Yu, Q., Farkas, D., Zheng, G., Redick, S. D., Hung, H. F., Samtani, R., Jurczyk, A., Akbarian, S., Wise, C., Jackson, A., Bober, M., Guo, Y., Lo, C. & Doxsey, S., Oct 6 2014, In : Current Biology. 24, 19, p. 2327-2334 8 p.

Research output: Contribution to journalArticle

Spindle Poles
centrosomes
Centrosome
dwarfing
Poles

Erratum: A unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientation (Current Biology (2014) 24 (2327-2334))

Chen, C. T., Hehnly, H., Yu, Q., Farkas, D., Zheng, G., Redick, S. D., Hung, H. F., Samtani, R., Jurczyk, A., Akbarian, S., Wise, C., Jackson, A., Bober, M., Guo, Y., Lo, C. & Doxsey, S., Dec 15 2014, In : Current Biology. 24, 24, p. 2975 1 p.

Research output: Contribution to journalArticle

Spindle Poles
centrosomes
Centrosome
Biological Sciences
Proteins

Erratum: A unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientation (Current Biology (2014) 24 (2327-2334))

Chen, C. T., Hehnly, H., Yu, Q., Farkas, D., Zheng, G., Redick, S. D., Hung, H. F., Samtani, R., Jurczyk, A., Akbarian, S., Wise, C., Jackson, A., Bober, M., Guo, Y., Lo, C. & Doxsey, S., Oct 6 2014, In : Current Biology. 24, 19, p. 2354 1 p.

Research output: Contribution to journalArticle

Poles
Proteins
pericentrin
50 Citations (Scopus)

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

Murray, J. E., Bicknell, L. S., Yigit, G., Duker, A. L., van Kogelenberg, M., Haghayegh, S., Wieczorek, D., Kayserili, H., Albert, M. H., Wise, C. A., Brandon, J., Kleefstra, T., Warris, A., van der Flier, M., Bamforth, J. S., Doonanco, K., Adès, L., Ma, A., Field, M., Johnson, D. & 9 others, Shackley, F., Firth, H., Woods, C. G., Nürnberg, P., Gatti, R. A., Hurles, M., Bober, M. B., Wollnik, B. & Jackson, A. P., Jan 2014, In : Human Mutation. 35, 1, p. 76-85 10 p.

Research output: Contribution to journalArticle

Ligases
Mutation
Growth
Microcephaly
Neoplasms
5 Citations (Scopus)

Genomic analyses of patients with unexplained early-onset scoliosis

Gao, X., Gotway, G., Rathjen, K., Johnston, C., Sparagana, S. & Wise, C. A., 2014, In : Spine Deformity. 2, 5, p. 324-332 9 p.

Research output: Contribution to journalArticle

Scoliosis
Mutation
Uniparental Disomy
Chromosomes, Human, Pair 14
Chromosomes, Human, Pair 10
13 Citations (Scopus)

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

Paria, N., Cho, T. J., Choi, I. H., Kamiya, N., Kayembe, K., Mao, R., Margraf, R. L., Obermosser, G., Oxendine, I., Sant, D. W., Song, M. H., Stevenson, D. A., Viskochil, D. H., Wise, C. A., Kim, H. K. W. & Rios, J. J., Dec 1 2014, In : Journal of Bone and Mineral Research. 29, 12, p. 2636-2642 7 p.

Research output: Contribution to journalArticle

Neurofibromin 1
Pseudarthrosis
Neurofibromatosis 1
Bone Remodeling
Gene Expression Profiling
46 Citations (Scopus)

Ptk7 mutant zebrafish models of congenital and idiopathic scoliosis implicate dysregulated Wnt signalling in disease

Hayes, M., Gao, X., Yu, L. X., Paria, N., Henkelman, R. M., Wise, C. A. & Ciruna, B., Sep 3 2014, In : Nature Communications. 5, 4777.

Research output: Contribution to journalArticle

Scoliosis
Zebrafish
Musculoskeletal system
curvature
vertebrae
2013
9 Citations (Scopus)

A novel method for analyzing genetic association with longitudinal phenotypes

Londono, D., Chen, K. M., Musolf, A., Wang, R., Shen, T., Brandon, J., Herring, J. A., Wise, C. A., Zou, H., Jin, M., Yu, L., Finch, S. J., Matise, T. C. & Gordon, D., May 2013, In : Statistical Applications in Genetics and Molecular Biology. 12, 2, p. 241-261 21 p.

Research output: Contribution to journalArticle

Genetic Association
Progression
Phenotype
Tractrix
Genes
117 Citations (Scopus)

Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis

Kou, I., Takahashi, Y., Johnson, T. A., Takahashi, A., Guo, L., Dai, J., Qiu, X., Sharma, S., Takimoto, A., Ogura, Y., Jiang, H., Yan, H., Kono, K., Kawakami, N., Uno, K., Ito, M., Minami, S., Yanagida, H., Taneichi, H., Hosono, N. & 21 others, Tsuji, T., Suzuki, T., Sudo, H., Kotani, T., Yonezawa, I., Londono, D., Gordon, D., Herring, J. A., Watanabe, K., Chiba, K., Kamatani, N., Jiang, Q., Hiraki, Y., Kubo, M., Toyama, Y., Tsunoda, T., Wise, C. A., Qiu, Y., Shukunami, C., Matsumoto, M. & Ikegawa, S., Jun 2013, In : Nature Genetics. 45, 6, p. 676-679 4 p.

Research output: Contribution to journalArticle

Scoliosis
G-Protein-Coupled Receptors
Genome-Wide Association Study
Single Nucleotide Polymorphism
Chromosomes
47 Citations (Scopus)

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

Geusau, A., Mothes-Luksch, N., Nahavandi, H., Pickl, W. F., Wise, C. A., Pourpak, Z., Ponweiser, E., Eckhart, L. & Sunder-Plassmann, R., Feb 2013, In : JAMA Dermatology. 149, 2, p. 209-215 7 p.

Research output: Contribution to journalArticle

Protein Phosphatase 1
Phosphoprotein Phosphatases
Proline
Mutation
Genes
84 Citations (Scopus)

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

Rios, J. J., Paria, N., Burns, D. K., Israel, B. A., Cornelia, R., Wise, C. A. & Ezaki, M., Feb 2013, In : Human Molecular Genetics. 22, 3, p. 444-451 8 p., dds440.

Research output: Contribution to journalArticle

Mutation
Peripheral Nerves
Exome
Nerve Tissue
Vascular Malformations
17 Citations (Scopus)

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

Prahalad, S., Conneely, K. N., Jiang, Y., Sudman, M., Wallace, C. A., Brown, M. R., Ponder, L. A., Rohani-Pichavant, M., Zwick, M. E., Cutler, D. J., Angeles-Han, S. T., Vogler, L. B., Kennedy, C., Rouster-Stevens, K., Wise, C. A., Punaro, M., Reed, A. M., Mellins, E. D., Bohnsack, J. F., Glass, D. N. & 1 others, Thompson, S. D., Jun 2013, In : Arthritis and Rheumatism. 65, 6, p. 1663-1667 5 p.

Research output: Contribution to journalArticle

Genetic Loci
Rheumatoid Arthritis
Odds Ratio
Confidence Intervals
TNF Receptor-Associated Factor 1
5 Citations (Scopus)
Musculoskeletal Diseases
Exome
Pedigree
Genetic Predisposition to Disease
Rare Diseases
2012
44 Citations (Scopus)

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

Thompson, S. D., Marion, M. C., Sudman, M., Ryan, M., Tsoras, M., Howard, T. D., Barnes, M. G., Ramos, P. S., Thomson, W., Hinks, A., Haas, J. P., Prahalad, S., Bohnsack, J. F., Wise, C. A., Punaro, M., Rosé, C. D., Pajewski, N. M., Spigarelli, M., Keddache, M., Wagner, M. & 2 others, Langefeld, C. D. & Glass, D. N., Aug 2012, In : Arthritis and Rheumatism. 64, 8, p. 2781-2791 11 p.

Research output: Contribution to journalArticle

Juvenile Arthritis
Genome-Wide Association Study
Single Nucleotide Polymorphism
Odds Ratio
Genome
22 Citations (Scopus)

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

Bober, M. B., Niiler, T., Duker, A. L., Murray, J. E., Ketterer, T., Harley, M. E., Alvi, S., Flora, C., Rustad, C., Bongers, E. M. H. F., Bicknell, L. S., Wise, C. & Jackson, A. P., Nov 2012, In : American Journal of Medical Genetics, Part A. 158 A, 11, p. 2719-2725 7 p.

Research output: Contribution to journalArticle

Mutation
Growth
Weights and Measures
Growth Charts
Dwarfism
29 Citations (Scopus)

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

Prahalad, S., Thompson, S. D., Conneely, K. N., Jiang, Y., Leong, T., Prozonic, J., Brown, M. R., Ponder, L. A., Angeles-Han, S. T., Vogler, L. B., Kennedy, C., Wallace, C. A., Wise, C. A., Punaro, M., Reed, A., Park, J. L., Mellins, E. D., Zeft, A. S., Bohnsack, J. F. & Glass, D. N., Mar 2012, In : Arthritis and Rheumatism. 64, 3, p. 925-930 6 p.

Research output: Contribution to journalArticle

HLA-DRB1 Chains
Epitopes
Rheumatoid Arthritis
Alleles
Odds Ratio
515 Citations (Scopus)

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

Tsoi, L. C., Spain, S. L., Knight, J., Ellinghaus, E., Stuart, P. E., Capon, F., Ding, J., Li, Y., Tejasvi, T., Gudjonsson, J. E., Kang, H. M., Allen, M. H., McManus, R., Novelli, G., Samuelsson, L., Schalkwijk, J., Ståhle, M., Burden, A. D., Smith, C. H., Cork, M. J. & 183 others, Estivill, X., Bowcock, A. M., Krueger, G. G., Weger, W., Worthington, J., Tazi-Ahnini, R., Nestle, F. O., Hayday, A., Hoffmann, P., Winkelmann, J., Wijmenga, C., Langford, C., Edkins, S., Andrews, R., Blackburn, H., Strange, A., Band, G., Pearson, R. D., Vukcevic, D., Spencer, C. C. A., Deloukas, P., Mrowietz, U., Schreiber, S., Weidinger, S., Koks, S., Kingo, K., Esko, T., Metspalu, A., Lim, H. W., Voorhees, J. J., Weichenthal, M., Wichmann, H. E., Chandran, V., Rosen, C. F., Rahman, P., Gladman, D. D., Griffiths, C. E. M., Reis, A., Kere, J., Nnair, R. P., Franke, A., Barker, J. N., Abecasis, G. R., Eelder, J. T., Ttrembath, R., Duffin, K. C., Helms, C., Goldgar, D., Li, Y., Paschall, J., Malloy, M. J., Pullinger, C. R., Kane, J. P., Gardner, J., Perlmutter, A., Miner, A., Feng, B. J., Hiremagalore, R., Ike, R. W., Christophers, E., Henseler, T., Ruether, A., Schrodi, S. J., Prahalad, S., Guthery, S. L., Fischer, J., Liao, W., Kwok, P., Menter, A., Lathrop, G. M., Wise, C., Begovich, A. B., Onoufriadis, A., Weale, M. E., Hofer, A., Salmhofer, W., Wolf, P., Kainu, K., Saarialho-Kere, U., Suomela, S., Badorf, P., Hüffmeier, U., Kurrat, W., Küster, W., Lascorz, J., Mössner, R., Schürmeier-Horst, F., Ständer, M., Traupe, H., Bergboer, J. G. M., Heijer, M. D., Van De Kerkhof, P. C., Zeeuwen, P. L. J. M., Barnes, L., Campbell, L. E., Cusack, C., Coleman, C., Conroy, J., Ennis, S., Fitzgerald, O., Gallagher, P., Irvine, A. D., Kirby, B., Markham, T., McLean, W. H. I., McPartlin, J., Rogers, S. F., Ryan, A. W., Zawirska, A., Giardina, E., Lepre, T., Perricone, C., Martín-Ezquerra, G., Pujol, R. M., Riveira-Munoz, E., Inerot, A., Naluai, Å. T., Mallbris, L., Wolk, K., Leman, J., Barton, A., Warren, R. B., Young, H. S., Ricano-Ponce, I., Trynka, G., Pellett, F. J., Henschel, A., Aurand, M., Bebo, B., Gieger, C., Illig, T., Moebus, S., Jöckel, K. H., Erbel, R., Donnelly, P., Peltonen, L., Blackwell, J. M., Bramon, E., Brown, M. A., Casas, J. P., Corvin, A., Craddock, N., Duncanson, A., Jankowski, J., Markus, H. S., Mathew, C. G., McCarthy, M. I., Palmer, C. N. A., Plomin, R., Rautanen, A., Sawcer, S. J., Samani, N., Viswanathan, A. C., Wood, N. W., Bellenguez, C., Freeman, C., Hellenthal, G., Giannoulatou, E., Pirinen, M., Su, Z., Hunt, S. E., Gwilliam, R., Bumpstead, S. J., Dronov, S., Gillman, M., Gray, E., Hammond, N., Jayakumar, A., McCann, O. T., Liddle, J., Perez, M. L., Potter, S. C., Ravindrarajah, R., Ricketts, M., Waller, M., Weston, P., Widaa, S., Whittaker, P., Neir, R. P., Barker, J. N. W. N., Abecasis, G. R., Elder, J. T. & Trembath, R. C., Dec 2012, In : Nature Genetics. 44, 12, p. 1341-1348 8 p.

Research output: Contribution to journalArticle

Psoriasis
Innate Immunity
Macrophage Activation
Genome-Wide Association Study
Interferons
25 Citations (Scopus)

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

de Munnik, S. A., Otten, B. J., Schoots, J., Bicknell, L. S., Aftimos, S., Al-Aama, J. Y., van Bever, Y., Bober, M. B., Borm, G. F., Clayton-Smith, J., Deal, C. L., Edrees, A. Y., Feingold, M., Fryer, A., van Hagen, J. M., Hennekam, R. C., Jansweijer, M. C. E., Johnson, D., Kant, S. G., Opitz, J. M. & 18 others, Ramadevi, A. R., Reardon, W., Ross, A., Sarda, P., Schrander-Stumpel, C. T. R. M., Sluiter, A. E., Temple, I. K., Terhal, P. A., Toutain, A., Wise, C. A., Wright, M., Skidmore, D. L., Samuels, M. E., Hoefsloot, L. H., Knoers, N. V. A. M., Brunner, H. G., Jackson, A. P. & Bongers, E. M. H. F., Nov 2012, In : American Journal of Medical Genetics, Part A. 158 A, 11, p. 2733-2742 10 p.

Research output: Contribution to journalArticle

Dwarfism
Sexual Development
Growth
Mutation
Gene Components
52 Citations (Scopus)

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

De Munnik, S. A., Bicknell, L. S., Aftimos, S., Al-Aama, J. Y., Van Bever, Y., Bober, M. B., Clayton-Smith, J., Edrees, A. Y., Feingold, M., Fryer, A., Van Hagen, J. M., Hennekam, R. C., Jansweijer, M. C. E., Johnson, D., Kant, S. G., Opitz, J. M., Ramadevi, A. R., Reardon, W., Ross, A., Sarda, P. & 14 others, Schrander-Stumpel, C. T. R. M., Schoots, J., Temple, I. K., Terhal, P. A., Toutain, A., Wise, C. A., Wright, M., Skidmore, D. L., Samuels, M. E., Hoefsloot, L. H., Knoers, N. V. A. M., Brunner, H. G., Jackson, A. P. & Bongers, E. M. H. F., Jun 2012, In : European Journal of Human Genetics. 20, 6, p. 598-606 9 p.

Research output: Contribution to journalArticle

Genotype
Phenotype
Mutation
Genes
Breast
180 Citations (Scopus)

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

Jordan, C. T., Cao, L., Roberson, E. D. O., Duan, S., Helms, C. A., Nair, R. P., Duffin, K. C., Stuart, P. E., Goldgar, D., Hayashi, G., Olfson, E. H., Feng, B. J., Pullinger, C. R., Kane, J. P., Wise, C. A., Goldbach-Mansky, R., Lowes, M. A., Peddle, L., Chandran, V., Liao, W. & 6 others, Rahman, P., Krueger, G. G., Gladman, D., Elder, J. T., Menter, A. & Bowcock, A. M., May 4 2012, In : American Journal of Human Genetics. 90, 5, p. 796-808 13 p.

Research output: Contribution to journalArticle

NF-kappa B
Psoriasis
Mutation
Keratinocytes
Skin
6 Citations (Scopus)

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

Londono, D., Buyske, S., Finch, S. J., Sharma, S., Wise, C. A. & Gordon, D., Jan 20 2012, In : BMC Bioinformatics. 13, 1, 13.

Research output: Contribution to journalArticle

Data Association
Locus
Statistics
Proportion
Genetic Phenomena
2011
119 Citations (Scopus)

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

Edery, P., Marcaillou, C., Sahbatou, M., Labalme, A., Chastang, J., Touraine, R., Tubacher, E., Senni, F., Bober, M. B., Nampoothiri, S., Jouk, P. S., Steichen, E., Berland, S., Toutain, A., Wise, C. A., Sanlaville, D., Rousseau, F., Clerget-Darpoux, F. & Leutenegger, A. L., Apr 8 2011, In : Science. 332, 6026, p. 240-243 4 p.

Research output: Contribution to journalArticle

Spliceosomes
Small Nuclear RNA
Introns
RNA Splicing
Ribonucleoproteins
3 Citations (Scopus)

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

McGregor, T. L., Gurnett, C. A., Dobbs, M. B., Wise, C. A., Morcuende, J. A., Morgan, T. M., Menon, R. & Muglia, L. J., Jul 8 2011, In : BMC Medical Genetics. 12, 92.

Research output: Contribution to journalArticle

Protein-Lysine 6-Oxidase
Scoliosis
Phenotype
Single Nucleotide Polymorphism
Genes