A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation

by Adam, Jennifer, Browning, Andrew C., Vaideanu, Daniela, Heidet, Laurence, Goodship, Judith A., Sayer, John A.
Published 2013

Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA)

by Muncke, Nadja, Niesler, Beate, Roeth, Ralph, Schön, Karin, Rüdiger, Heinz-Juergen, Goldmuntz, Elizabeth, Goodship, Judith, Rappold, Gudrun
Published 2005

Using population data for assessing next-generation sequencing performance

by Houniet, Darren T., Rahman, Thahira J., Al Turki, Saeed, Hurles, Matthew E., Xu, Yaobo, Goodship, Judith, Keavney, Bernard, Santibanez Koref, Mauro
Published 2015

Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus

by Blair, Helen J, Tompson, Stuart, Liu, Yu-Ning, Campbell, Jennifer, MacArthur, Katie, Ponting, Chris P, Ruiz-Perez, Victor L, Goodship, Judith A
Published 2011

Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation

by Pan-Hammarström, Qiang, Lähdesmäki, Aleksi, Zhao, Yaofeng, Du, Likun, Zhao, Zhihui, Wen, Sicheng, Ruiz-Perez, Victor L., Dunn-Walters, Deborah K., Goodship, Judith A., Hammarström, Lennart
Published 2006

Title not available

by Pan-Hammarström, Qiang, Lähdesmäki, Aleksi, Zhao, Yaofeng, Du, Likun, Zhao, Zhihui, Wen, Sicheng, Ruiz-Perez, Victor L., Dunn-Walters, Deborah K., Goodship, Judith A., Hammarström, Lennart
Published 2006

Determining the Population Frequency of the CFHR3/CFHR1 Deletion at 1q32

by Holmes, Lucy V., Strain, Lisa, Staniforth, Scott J., Moore, Iain, Marchbank, Kevin, Kavanagh, David, Goodship, Judith A., Cordell, Heather J., Goodship, Timothy H. J.
Published 2013

Inversin/Nephrocystin-2 Is Required for Fibroblast Polarity and Directional Cell Migration

by Veland, Iben R., Montjean, Rodrick, Eley, Lorraine, Pedersen, Lotte B., Schwab, Albrecht, Goodship, Judith, Kristiansen, Karsten, Pedersen, Stine F., Saunier, Sophie, Christensen, Søren T.
Published 2013

A Nonsense Mutation in the IKBKG Gene in Mares with Incontinentia Pigmenti

by Towers, Rachel E., Murgiano, Leonardo, Millar, David S., Glen, Elise, Topf, Ana, Jagannathan, Vidhya, Drögemüller, Cord, Goodship, Judith A., Clarke, Angus J., Leeb, Tosso
Published 2013

Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report

by Montgomery, Emma, Sayer, John A., Baines, Laura A., Hynes, Ann Marie, Vega-Warner, Virginia, Johnson, Sally, Goodship, Judith A., Otto, Edgar A.
Published 2015

Atypical Haemolytic Uraemic Syndrome Associated with a Hybrid Complement Gene

by Venables, Julian P, Strain, Lisa, Routledge, Danny, Bourn, David, Powell, Helen M, Warwicker, Paul, Diaz-Torres, Martha L, Sampson, Anne, Mead, Paul, Webb, Michelle, Pirson, Yves, Jackson, Michael S, Hughes, Anne, Wood, Katrina M, Goodship, Judith A, Goodship, Timothy H. J
Published 2006

Deletion of Complement Factor H–Related Genes CFHR1 and CFHR3 Is Associated with Atypical Hemolytic Uremic Syndrome

by Zipfel, Peter F, Edey, Matthew, Heinen, Stefan, Józsi, Mihály, Richter, Heiko, Misselwitz, Joachim, Hoppe, Bernd, Routledge, Danny, Strain, Lisa, Hughes, Anne E, Goodship, Judith A, Licht, Christoph, Goodship, Timothy H. J, Skerka, Christine
Published 2007

Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot

by Palomino Doza, Julian, Topf, Ana, Bentham, Jamie, Bhattacharya, Shoumo, Cosgrove, Catherine, Brook, J David, Granados-Riveron, Javier, Bu’Lock, Frances A, O’Sullivan, John, Stuart, A Graham, Parsons, Jonathan, Relton, Caroline, Goodship, Judith, Henderson, Deborah J, Keavney, Bernard
Published 2013

Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation

by Tan, Huay L, Glen, Elise, Töpf, Ana, Hall, Darroch, O'Sullivan, John J, Sneddon, Linda, Wren, Christopher, Avery, Peter, Lewis, Richard J, ten Dijke, Peter, Arthur, Helen M, Goodship, Judith A, Keavney, Bernard D
Published 2012

Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot

by Töpf, Ana, Griffin, Helen R., Glen, Elise, Soemedi, Rachel, Brown, Danielle L., Hall, Darroch, Rahman, Thahira J., Eloranta, Jyrki J., Jüngst, Christoph, Stuart, A. Graham, O'Sullivan, John, Keavney, Bernard D., Goodship, Judith A.
Published 2014

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

by Wilson, Brian T., Stark, Zornitza, Sutton, Ruth E., Danda, Sumita, Ekbote, Alka V., Elsayed, Solaf M., Gibson, Louise, Goodship, Judith A., Jackson, Andrew P., Keng, Wee Teik, King, Mary D., McCann, Emma, Motojima, Toshino, Murray, Jennifer E., Omata, Taku, Pilz, Daniela, Pope, Kate, Sugita, Katsuo, White, Susan M., Wilson, Ian J.
Published 2016

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

by Soemedi, Rachel, Topf, Ana, Wilson, Ian J., Darlay, Rebecca, Rahman, Thahira, Glen, Elise, Hall, Darroch, Huang, Ni, Bentham, Jamie, Bhattacharya, Shoumo, Cosgrove, Catherine, Brook, J. David, Granados-Riveron, Javier, Setchfield, Kerry, Bu'Lock, Frances, Thornborough, Chris, Devriendt, Koenraad, Breckpot, Jeroen, Hofbeck, Michael, Lathrop, Mark, Rauch, Anita, Blue, Gillian M., Winlaw, David S., Hurles, Matthew, Santibanez-Koref, Mauro, Cordell, Heather J., Goodship, Judith A., Keavney, Bernard D.
Published 2012

Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot

by Cordell, Heather J., Töpf, Ana, Mamasoula, Chrysovalanto, Postma, Alex V., Bentham, Jamie, Zelenika, Diana, Heath, Simon, Blue, Gillian, Cosgrove, Catherine, Granados Riveron, Javier, Darlay, Rebecca, Soemedi, Rachel, Wilson, Ian J., Ayers, Kristin L., Rahman, Thahira J., Hall, Darroch, Mulder, Barbara J.M., Zwinderman, Aelko H., van Engelen, Klaartje, Brook, J. David, Setchfield, Kerry, Bu'Lock, Frances A., Thornborough, Chris, O'Sullivan, John, Stuart, A. Graham, Parsons, Jonathan, Bhattacharya, Shoumo, Winlaw, David, Mital, Seema, Gewillig, Marc, Breckpot, Jeroen, Devriendt, Koen, Moorman, Antoon F.M., Rauch, Anita, Lathrop, G. Mark, Keavney, Bernard D., Goodship, Judith A.
Published 2013

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

by Cordell, Heather J., Bentham, Jamie, Topf, Ana, Zelenika, Diana, Heath, Simon, Mamasoula, Chrysovalanto, Cosgrove, Catherine, Blue, Gillian, Granados-Riveron, Javier, Setchfield, Kerry, Thornborough, Chris, Breckpot, Jeroen, Soemedi, Rachel, Martin, Ruairidh, Rahman, Thahira J., Hall, Darroch, van Engelen, Klaartje, Moorman, Antoon F.M., Zwinderman, Aelko H, Barnett, Phil, Koopmann, Tamara T., Adriaens, Michiel E., Varro, Andras, George, Alfred L., dos Remedios, Christobal, Bishopric, Nanette H., Bezzina, Connie R., O’Sullivan, John, Gewillig, Marc, Bu’Lock, Frances A., Winlaw, David, Bhattacharya, Shoumo, Devriendt, Koen, Brook, J. David, Mulder, Barbara J.M., Mital, Seema, Postma, Alex V., Lathrop, G. Mark, Farrall, Martin, Goodship, Judith A., Keavney, Bernard D.
Published 2013

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

by Sifrim, Alejandro, Hitz, Marc-Phillip, Wilsdon, Anna, Breckpot, Jeroen, Turki, Saeed H Al, Thienpont, Bernard, McRae, Jeremy, Fitzgerald, Tomas W, Singh, Tarjinder, Swaminathan, Ganesh Jawahar, Prigmore, Elena, Rajan, Diana, Abdul-Khaliq, Hashim, Banka, Siddharth, Bauer, Ulrike M.M., Bentham, Jamie, Berger, Felix, Bhattacharya, Shoumo, Bu'Lock, Frances A., Canham, Natalie, Colgiu, Irina-Gabriela, Cosgrove, Catherine, Cox, Helen, Daehnert, Ingo, Daly, Allan, Danesh, John, Fryer, Alan, Gewillig, Marc, Hobson, Emma, Hoff, Kirstin, Homfray, Tessa, Kahlert, Anne-Karin, Ketley, Ami, Kramer, Hans-Heiner, Lachlan, Katherine, Lampe, Anne Katrin, Louw, Jacoba J., Manickara, Ashok Kumar, Manase, Dorin, McCarthy, Karen P., Metcalfe, Kay, Moore, Carmel, Newbury-Ecob, Ruth, Omer, Seham Osman, Ouwehand, Willem H., Park, Soo-Mi, Parker, Michael J., Pickardt, Thomas, Pollard, Martin O., Robert, Leema, Roberts, David J., Sambrook, Jennifer, Setchfield, Kerry, Stiller, Brigitte, Thornborough, Christopher, Toka, Okan, Watkins, Hugh, Williams, Denise, Wright, Michael, Mital, Seema, Daubeney, Piers E.F., Keavney, Bernard, Goodship, Judith, Abu-Sulaiman, Riyadh Mahdi, Klaassen, Sabine, Wright, Caroline F., Firth, Helen V., Barrett, Jeffrey C., Devriendt, Koenraad, FitzPatrick, David R., Brook, J. David, Hurles, Matthew E.
Published 2016