• 7649 Citations
  • 41 h-Index
1986 …2019

Research output per year

If you made any changes in Pure these will be visible here soon.

Research Output

2019

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
1 Scopus citations

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
1 Scopus citations

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

2018

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

12 Scopus citations

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

6 Scopus citations

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

6 Scopus citations

Current understanding of genetic factors in idiopathic scoliosis

Wise, C. A. & Ikegawa, S., Jun 12 2018, The Genetics and Development of Scoliosis: Second Edition. Springer International Publishing, p. 139-157 19 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

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

8 Scopus citations

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

4 Scopus citations

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

5 Scopus citations

The genetic architecture of adolescent idiopathic scoliosis

Khanshour, A. M. & Wise, C. A., Jan 1 2018, Pathogenesis of Idiopathic Scoliosis. Springer Japan, p. 51-74 24 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2017

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

4 Scopus citations

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

15 Scopus citations

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

29 Scopus citations
2016

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

28 Scopus citations

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

25 Scopus citations

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

39 Scopus citations

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

49 Scopus citations

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

10 Scopus citations

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

6 Scopus citations
2015

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

63 Scopus citations

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

11 Scopus citations

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

31 Scopus citations

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

3 Scopus citations

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

80 Scopus citations

Molecular genetics of pediatric orthopaedic disorders

Wise, C. A. & Rios, J. J., Jan 1 2015, Springer New York. 172 p.

Research output: Book/ReportBook

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

13 Scopus citations

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

10 Scopus citations

The genetic architecture of idiopathic scoliosis

Wise, C. A., Jan 1 2015, Molecular Genetics of Pediatric Orthopaedic Disorders. Springer New York, p. 71-89 19 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations
2014

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., Jan 1 2014, In : Journal of medical genetics. 51, 6, p. 401-406 6 p.

Research output: Contribution to journalArticle

37 Scopus citations

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

47 Scopus citations

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, 1 p.

Research output: Contribution to journalComment/debate

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, 1 p.

Research output: Contribution to journalComment/debate

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 1 2014, In : Human mutation. 35, 1, p. 76-85 10 p.

Research output: Contribution to journalArticle

51 Scopus citations

Genomic analyses of patients with unexplained early-onset scoliosis

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

Research output: Contribution to journalArticle

5 Scopus citations

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

13 Scopus citations

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

49 Scopus citations
2013

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 1 2013, In : Statistical Applications in Genetics and Molecular Biology. 12, 2, p. 241-261 21 p.

Research output: Contribution to journalArticle

9 Scopus citations

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 1 2013, In : Nature genetics. 45, 6, p. 676-679 4 p.

Research output: Contribution to journalArticle

118 Scopus citations

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 1 2013, In : JAMA Dermatology. 149, 2, p. 209-215 7 p.

Research output: Contribution to journalArticle

47 Scopus citations

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 1 2013, In : Human molecular genetics. 22, 3, p. 444-451 8 p., dds440.

Research output: Contribution to journalArticle

85 Scopus citations

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 1 2013, In : Arthritis and rheumatism. 65, 6, p. 1663-1667 5 p.

Research output: Contribution to journalArticle

17 Scopus citations
5 Scopus citations
2012

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 1 2012, In : Arthritis and rheumatism. 64, 8, p. 2781-2791 11 p.

Research output: Contribution to journalArticle

45 Scopus citations

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 1 2012, In : American Journal of Medical Genetics, Part A. 158 A, 11, p. 2719-2725 7 p.

Research output: Contribution to journalArticle

22 Scopus citations

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 1 2012, In : Arthritis and rheumatism. 64, 3, p. 925-930 6 p.

Research output: Contribution to journalArticle

29 Scopus citations

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 1 2012, In : Nature genetics. 44, 12, p. 1341-1348 8 p.

Research output: Contribution to journalArticle

524 Scopus citations

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 1 2012, In : American Journal of Medical Genetics, Part A. 158 A, 11, p. 2733-2742 10 p.

Research output: Contribution to journalArticle

25 Scopus citations

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 1 2012, In : European Journal of Human Genetics. 20, 6, p. 598-606 9 p.

Research output: Contribution to journalArticle

55 Scopus citations