Array painting: a protocol for the rapid analysis of aberrant chromosomes using DNA microarrays

Por Gribble, Susan M, Ng, Bee Ling, Prigmore, Elena, Fitzgerald, Tomas, Carter, Nigel P
Publicado em 2009

Breakpoint Mapping and Array CGH in Translocations: Comparison of a Phenotypically Normal and an Abnormal Cohort

Por Baptista, Julia, Mercer, Catherine, Prigmore, Elena, Gribble, Susan M., Carter, Nigel P., Maloney, Viv, Thomas, N. Simon, Jacobs, Patricia A., Crolla, John A.
Publicado em 2008

UBE2QL1 is Disrupted by a Constitutional Translocation Associated with Renal Tumor Predisposition and is a Novel Candidate Renal Tumor Suppressor Gene

Por Wake, Naomi C, Ricketts, Christopher J, Morris, Mark R, Prigmore, Elena, Gribble, Susan M, Skytte, Anne-Bine, Brown, Michael, Clarke, Noel, Banks, Rosamonde E, Hodgson, Shirley, Turnell, Andrew S, Maher, Eamonn R, Woodward, Emma R
Publicado em 2013

Maternally Inherited Partial Monosomy 9p (pter → p24.1) and Partial Trisomy 20p (pter → p12.1) Characterized by Microarray Comparative Genomic Hybridization

Por Freitas, Érika L., Gribble, Susan M., Simioni, Milena, Vieira, Társis P., Silva-Grecco, Roseane L., Balarin, Marly A. S., Prigmore, Elena, Krepischi-Santos, Ana C., Rosenberg, Carla, Szuhai, Karoly, van Haeringen, Arie, Carter, Nigel P., Gil-da-Silva-Lopes, Vera Lúcia
Publicado em 2011

Characterization of a 3;6 Translocation Associated with Renal Cell Carcinoma

Por Foster, Rebecca E., Abdulrahman, Mahera, Morris, Mark R., Prigmore, Elena, Gribble, Susan, Ng, Beeling, Gentle, Dean, Ready, Steven, Weston, Phil M. T., Wiesener, Michael S., Kishida, Takeshi, Yao, Masahiro, Davison, Val, Barbero, Jose Luis, Chu, Carol, Carter, Nigel P., Latif, Farida, Maher, Eamonn R.
Publicado em 2007

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa

Por Abd El-Aziz, Mai M, Barragan, Isabel, O’Driscoll, Ciara A, Goodstadt, Leo, Prigmore, Elena, Borrego, Salud, Mena, Marcela, Pieras, Juan I, El-Ashry, Mohamed F, Safieh, Leen Abu, Shah, Amna, Cheetham, Michael E, Carter, Nigel P, Chakarova, Christina, Ponting, Chris P, Bhattacharya, Shomi S, Antinolo, Guillermo
Publicado em 2008

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

Por Pinto, Dalila, Darvishi, Katayoon, Shi, Xinghua, Rajan, Diana, Rigler, Diane, Fitzgerald, Tom, Lionel, Anath C, Thiruvahindrapuram, Bhooma, MacDonald, Jeffrey R, Mills, Ryan, Prasad, Aparna, Noonan, Kristin, Gribble, Susan, Prigmore, Elena, Donahoe, Patricia K, Smith, Richard S, Park, Ji Hyeon, Hurles, Matthew E, Carter, Nigel P, Lee, Charles, Scherer, Stephen W, Feuk, Lars
Publicado em 2011

Massively Parallel Sequencing Reveals the Complex Structure of an Irradiated Human Chromosome on a Mouse Background in the Tc1 Model of Down Syndrome

Por Gribble, Susan M., Wiseman, Frances K., Clayton, Stephen, Prigmore, Elena, Langley, Elizabeth, Yang, Fengtang, Maguire, Sean, Fu, Beiyuan, Rajan, Diana, Sheppard, Olivia, Scott, Carol, Hauser, Heidi, Stephens, Philip J., Stebbings, Lucy A., Ng, Bee Ling, Fitzgerald, Tomas, Quail, Michael A., Banerjee, Ruby, Rothkamm, Kai, Tybulewicz, Victor L. J., Fisher, Elizabeth M. C., Carter, Nigel P.
Publicado em 2013

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

Por Stankiewicz, Paweł, Sen, Partha, Bhatt, Samarth S., Storer, Mekayla, Xia, Zhilian, Bejjani, Bassem A., Ou, Zhishuo, Wiszniewska, Joanna, Driscoll, Daniel J., Bolivar, Juan, Bauer, Mislen, Zackai, Elaine H., McDonald-McGinn, Donna, Nowaczyk, Małgorzata M.J., Murray, Mitzi, Shaikh, Tamim H., Martin, Vicki, Tyreman, Matthew, Simonic, Ingrid, Willatt, Lionel, Paterson, Joan, Mehta, Sarju, Rajan, Diana, Fitzgerald, Tomas, Gribble, Susan, Prigmore, Elena, Patel, Ankita, Shaffer, Lisa G., Carter, Nigel P., Cheung, Sau Wai, Langston, Claire, Shaw-Smith, Charles
Publicado em 2009

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

Por Wright, Caroline F, Fitzgerald, Tomas W, Jones, Wendy D, Clayton, Stephen, McRae, Jeremy F, van Kogelenberg, Margriet, King, Daniel A, Ambridge, Kirsty, Barrett, Daniel M, Bayzetinova, Tanya, Bevan, A Paul, Bragin, Eugene, Chatzimichali, Eleni A, Gribble, Susan, Jones, Philip, Krishnappa, Netravathi, Mason, Laura E, Miller, Ray, Morley, Katherine I, Parthiban, Vijaya, Prigmore, Elena, Rajan, Diana, Sifrim, Alejandro, Swaminathan, G Jawahar, Tivey, Adrian R, Middleton, Anna, Parker, Michael, Carter, Nigel P, Barrett, Jeffrey C, Hurles, Matthew E, FitzPatrick, David R, Firth, Helen V
Publicado no Lancet (2015)

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

Por Stankiewicz, Pawel, Sen, Partha, Bhatt, Samarth S., Storer, Mekayla, Xia, Zhilian, Bejjani, Bassem A., Ou, Zhishuo, Wiszniewska, Joanna, Driscoll, Daniel J., Maisenbacher, Melissa K., Bolivar, Juan, Bauer, Mislen, Zackai, Elaine H., McDonald-McGinn, Donna, Nowaczyk, Malgorzata M.J., Murray, Mitzi, Hustead, Virginia, Mascotti, Kristin, Schultz, Regina, Hallam, Lavinia, McRae, Duncan, Nicholson, Andrew G., Newbury, Robert, Durham-O'Donnell, Jane, Knight, Gail, Kini, Usha, Shaikh, Tamim H., Martin, Vicki, Tyreman, Matthew, Simonic, Ingrid, Willatt, Lionel, Paterson, Joan, Mehta, Sarju, Jones, Christy W., Rajan, Diana, Fitzgerald, Tomas, Gribble, Susan, Prigmore, Elena, Patel, Ankita, Shaffer, Lisa G., Carter, Nigel P., Cheung, Sau Wai, Langston, Claire, Shaw-Smith, Charles
Publicado em 2009