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

by Londono, Douglas, Buyske, Steven, Finch, Stephen J, Sharma, Swarkar, Wise, Carol A, Gordon, Derek
Published 2012

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

by Rios, Jonathan J., Paria, Nandina, Burns, Dennis K., Israel, Bonnie A., Cornelia, Reuel, Wise, Carol A., Ezaki, Marybeth
Published 2013

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

by Hayes, Madeline, Gao, Xiaochong, Yu, Lisa X, Paria, Nandina, Henkelman, R. Mark, Wise, Carol A., Ciruna, Brian
Published 2014

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

by McGregor, Tracy L, Gurnett, Christina A, Dobbs, Matthew B, Wise, Carol A, Morcuende, Jose A, Morgan, Thomas M, Menon, Ramkumar, Muglia, Louis J
Published 2011

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

by Rai, Ekta, Mahajan, Ankit, Kumar, Parvinder, Angural, Arshia, Dhar, Manoj K, Razdan, Sushil, Thangaraj, Kumarasamy, Wise, Carol A., Ikegawa, Shiro, Pandita, Kamal Kishore, Sharma, Swarkar
Published 2016

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

by Sharma, Swarkar, Londono, Douglas, Eckalbar, Walter L., Gao, Xiaochong, Zhang, Dongping, Mauldin, Kristen, Kou, Ikuyo, Takahashi, Atsushi, Matsumoto, Morio, Kamiya, Nobuhiro, Murphy, Karl K., Cornelia, Reuel, Herring, John A., Burns, Dennis, Ahituv, Nadav, Ikegawa, Shiro, Gordon, Derek, Wise, Carol A.
Published 2015

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

by Bicknell, Louise S., Bongers, Ernie M.H.F., Leitch, Andrea, Brown, Stephen, Schoots, Jeroen, Harley, Margaret E., Aftimos, Salim, Al-Aama, Jumana Y., Bober, Michael, Brown, Paul A. J., van Bokhoven, Hans, Dean, John, Edrees, Alaa Y., Feingold, Murray, Fryer, Alan, Hoefsloot, Lies H., Kau, Nikolaus, Knoers, Nine V.A.M., MacKenzie, James, Opitz, John M., Sarda, Pierre, Ross, Alison, Temple, I. Karen, Toutain, Annick, Wise, Carol A., Wright, Michael, Jackson, Andrew P.
Published 2011

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

by Murray, Jennie E, Bicknell, Louise S, Yigit, Gökhan, Duker, Angela L, van Kogelenberg, Margriet, Haghayegh, Sara, Wieczorek, Dagmar, Kayserili, Hülya, Albert, Michael H, Wise, Carol A, Brandon, January, Kleefstra, Tjitske, Warris, Adilia, van der Flier, Michiel, Bamforth, J Steven, Doonanco, Kurston, Adès, Lesley, Ma, Alan, Field, Michael, Johnson, Diana, Shackley, Fiona, Firth, Helen, Woods, C Geoffrey, Nürnberg, Peter, Gatti, Richard A, Hurles, Matthew, Bober, Michael B, Wollnik, Bernd, Jackson, Andrew P
Published 2014

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

by Raj, Prithvi, Rai, Ekta, Song, Ran, Khan, Shaheen, Wakeland, Benjamin E, Viswanathan, Kasthuribai, Arana, Carlos, Liang, Chaoying, Zhang, Bo, Dozmorov, Igor, Carr-Johnson, Ferdicia, Mitrovic, Mitja, Wiley, Graham B, Kelly, Jennifer A, Lauwerys, Bernard R, Olsen, Nancy J, Cotsapas, Chris, Garcia, Christine K, Wise, Carol A, Harley, John B, Nath, Swapan K, James, Judith A, Jacob, Chaim O, Tsao, Betty P, Pasare, Chandrashekhar, Karp, David R, Li, Quan Zhen, Gaffney, Patrick M, Wakeland, Edward K
Published 2016