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Frayling, Timothy M., Timpson, Nicholas J., Weedon, Michael N., Zeggini, Eleftheria, Freathy, Rachel M., Lindgren, Cecilia M., Perry, John R. B., Elliott, Katherine S., Lango, Hana, Rayner, Nigel W., Shields, Beverley, Harries, Lorna W., Barrett, Jeffrey C., Ellard, Sian, Groves, Christopher J., Knight, Bridget, Patch, Ann-Marie, Ness, Andrew R., Ebrahim, Shah, Lawlor, Debbie A., Ring, Susan M., Ben-Shlomo, Yoav, Jarvelin, Marjo-Riitta, Sovio, Ulla, Bennett, Amanda J., Melzer, David, Ferrucci, Luigi, Loos, Ruth J. F., Barroso, Inês, Wareham, Nicholas J., Karpe, Fredrik, Owen, Katharine R., Cardon, Lon R., Walker, Mark, Hitman, Graham A., Palmer, Colin N. A., Doney, Alex S. F.Graham A., Morris, Andrew D., Smith, George Davey, Hattersley, Andrew T., McCarthy, Mark I. and Wellcome Trust Case Control (2007) A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science, 316 5826: 889-894. doi:10.1126/science.1141634 120   1702 Cited 1706 times in Scopus1706 102
Quek, Kelly, Nones, Katia, Patch, Ann-Marie, Fink, J. Lynn, Newell, Felicity, Cloonan, Nicole, Miller, David, Fadlullah, Muhammad Z. H., Kassahn, Karin, Christ, Angelika N., Bruxner, Timothy J. C., Manning, Suzanne, Harliwong, Ivon, Idrisoglu, Senel, Nourse, Craig, Nourbakhsh, Ehsan, Wani, Shivangi, Steptoe, Anita, Anderson, Matthew, Holmes, Oliver, Leonard, Conrad, Taylor, Darrin, Wood, Scott, Xu, Qinying, Australian Pancreatic Cancer Genome Initiative, Wilson, Peter, Biankin, Andrew V., Pearson, John V., Waddell, Nic and Grimmond, Sean M. (2014) A workflow to increase verification rate of chromosomal structural rearrangements using high-throughput next-generation sequencing. BioTechniques, 57 1: 31-38. doi:10.2144/000114189 46 1 0 Cited 0 times in Scopus0 3
Ellard, S, Edghill, EL, Locke, J, Flanagan, SE, Patch, AM, Harries, LW and Hattersley, AT (2008). Both recessive and dominant INS gene mutations are a common cause of neonatal diabetes. In: Journal of Medical Genetics. British Human Genetics Conference, York England, (S24-S24). Sep 15-17, 2008. 21   0
Chou, Angela, Waddell, Nicola, Cowley, Mark J., Gill, Anthony J., Chang, David K., Patch, Ann-Marie, Nones, Katia, Wu, Jianmin, Pinese, Mark, Johns, Amber L., Miller, David K., Kassahn, Karin S., Nagrial, Adnan M., Wasan, Harpreet, Goldstein, David, Toon, Christopher W., Chin, Venessa, Chantrill, Lorraine, Humphris, Jeremy, Mead, R. Scott, Rooman, Ilse, Samra, Jaswinder S., Pajic, Marina, Musgrove, Elizabeth A., Pearson, John V., Morey, Adrienne L., Grimmond, Sean M. and Biankin, Andrew V. (2013) Clinical and molecular characterization of HER2 amplified-pancreatic cancer. Genome Medicine, 5 8: 78.1-78.10. doi:10.1186/gm482 27   8 Cited 6 times in Scopus6 81
Rafiq, Meena, Flanagan, Sarah E., Patch, Ann-Marie, Shields, Beverley M., Ellard, Sian, Hattersley, Andrew T. and Neonatal Diabetes International Collaborative Group (2008) Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations. Diabetes Care, 31 2: 204-209. doi:10.2337/dc07-1785 38   74 Cited 93 times in Scopus93 0
Patch, Ann-Marie and Aves, Stephen J. (2007) Fingerprinting fission yeast: Polymorphic markers for molecular genetic analysis of Schizosaccharomyces pombe strains. Microbiology, 153 3: 887-897. doi:10.1099/mic.0.2006/001669-0 67   3 Cited 2 times in Scopus2 0
Flanagan, Sarah, Edghill, Emma, Patch, Ann-Marie, Minton, Jayne, Ellard, Sian and Hattersley, Andrew (2008). Genetic heterogeneity in permanent neonatal diabetes. In: 47th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Istanbul, Turkey, (38-38). 20-23 September 2008. 32   0
Nones, Katia, Waddell, Nic, Song, Sarah, Patch, Ann-Marie, Miller, David, Johns, Amber, Wu, Jianmin, Kassahn, Karin S., Wood, David, Bailey, Peter, Fink, Lynn, Manning, Suzanne, Christ, Angelika N., Nourse, Craig, Kazakoff, Stephen, Taylor, Darrin, Leonard, Conrad, Chang, David K., Jones, Marc D., Thomas, Michelle, Watson, Clare, Pinese, Mark, Cowley, Mark, Rooman, Ilse, Pajic, Marina, Butturini, Giovanni, Malpaga, Anna, Corbo, Vincenzo, Crippa, Stefano, Falconi, Massimo, Zamboni, Guiseppe, Castelli, Paola, APGI, Lawlor, Rita T., Gill, Anthony J., Scarpa, Aldo, Pearson, John V., Biankin, Andrew V. and Grimmond, Sean M. (2014) Genome-wide DNA methylation patterns in pancreatic ductal adenocarcinoma reveal epigenetic deregulation of SLIT-ROBO, ITGA2 and MET signaling. International Journal of Cancer, 2014 5: 1110-1118. doi:10.1002/ijc.28765 65   2 Cited 1 times in Scopus1 3
Flanagan, Sarah E., Patch, Ann-Marie, Locke, Jonathan M., Akcay, Teoman, Simsek, Enver, Alaei, Mohammadreza, Yekta, Zeinab, Desai, Meena, Kapoor, Ritika R., Hussain, Khalid and Ellard, Sian (2011) Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. Journal of Clinical Endocrinology and Metabolism, 96 3: E498-E502. doi:10.1210/jc.2010-1906 45   16 Cited 18 times in Scopus18 0
Nones, Katia, Waddell, Nicola, Wayte, Nicci, Patch, Ann-Marie, Bailey, Peter, Newell, Felicity, Holmes, Oliver, Fink, J. Lynn, Quinn, Michael C. J., Tang, Yue Hang, Lampe, Guy, Quek, Kelly, Loffler, Kelly A., Manning, Suzanne, Idrisoglu, Senel, Miller, David, Xu, Qinying, Waddell, Nick, Wilson, Peter J., Bruxner, Timothy J. C., Christ, Angelika N., Harliwong, Ivon, Nourse, Craig, Nourbakhsh, Ehsan, Anderson, Matthew, Kazakoff, Stephen, Leonard, Conrad, Wood, Scott, Simpson, Peter T., Reid, Lynne E., Krause, Lutz, Hussey, Damian J., Watson, David I., Lord, Reginald V., Nancarrow, Derek, Phillips, Wayne A., Gotely, David, Smithers, B. Mark, Whiteman, David C., Hayward, Nicholas K., Campbell, Peter J., Pearson, John V., Grimmond, Sean M. and Barbour, Andrew P. (2014) Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis. Nature Communications, 5 5224.1-5224.9. doi:10.1038/ncomms6224 40   0 Cited 0 times in Scopus0 30
Minton, Jal, Rubio-Cabezas, O, Patch, AM, Flanagan, SF, Edghill, E, Hussain, K, Hattersley, AT and Ellard, S (2009). Homozygosity mapping as a novel tool to identify patients with Wolcott-Rallison syndrome among infants with permanent neonatal diabetes. In: Journal of Medical Genetics. British Human Genetics Conference, York England, (S90-S90). Aug 31-Sep 02, 2009. 27   0
De Wet, Heidi, Rees, Mathew G., Shimomura, Kenju, Aittoniemi, Jussi, Patch, Ann-Marie, Flanagan, Sarah E., Ellard, Sian, Hattersley, Andrew T., Sansom, Mark S. P. and Ashcroft, Frances M. (2007) Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes. Proceedings of the National Academy of Sciences of the United States of America, 104 48: 18988-18992. doi:10.1073/pnas.0707428104 38   26 Cited 29 times in Scopus29 0
Støy, Julie, Edghill, Emma L., Flanagan, Sarah E., Ye, Honggang, Paz, Veronica P., Pluzhnikov, Anna, Below, Jennifer E., Hayes, M. Geoffrey, Cox, Nancy J., Lipkind, Gregory M., Lipton, Rebecca B., Greeley, Siri Atma W., Patch, Ann-Marie, Ellard, Sian, Steiner, Donald F., Hattersley, Andrew T., Philipson, Louis H. and Bell, Graeme I. (2007) Insulin gene mutations as a cause of permanent neonatal diabetes. Proceedings of the National Academy of Sciences of USA, 104 38: 15040-15044. doi:10.1073/pnas.0707291104 38   194 Cited 222 times in Scopus222 0
Edghill, Emma L., Flanagan, Sarah E., Patch, Ann-Marie, Boustred, Chris, Parrish, Andrew, Shields, Beverley, Shepherd, Maggie H., Hussain, Khalid, Kapoor, Ritika R., Malecki, Maciej, MacDonald, Michael J., Støy, Julie, Steiner, Donald F., Philipson, Louis H., Bell, Graeme I., The Neonatal Diabetes International Collaborative Group, Hattersley, Andrew T. and Ellard, Sian (2008) Insulin mutation screening in 1,044 patients with diabetes: Mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes, 57 4: 1034-1042. doi:10.2337/db07-1405 51   127 Cited 146 times in Scopus146 0
Hanley, Karen Piper, Hearn, Tom, Berry, Andrew, Carvell, Melanie J., Patch, Ann-Marie, Williams, Louise J., Sugden, Sarah A., Wilson, David I., Ellard, Sian and Hanley, Neil A. (2010) In vitro expression of NGN3 identifies RAB3B as the predominant Ras-associated GTP-binding protein 3 family member in human islets. Journal of Endocrinology, 207 2: 151-161. doi:10.1677/JOE-10-0120 32   8 Cited 8 times in Scopus8 0
Flanagan, Sarah E., Patch, Ann-Marie, Mackay, Deborah J. G., Edghill, Emma L., Gloyn, Anna L., Robinson, David, Shield, Julian P. H., Temple, Karen, Ellard, Sian and Hattersley, Andrew T. (2007) Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes, 56 7: 1930-1937. doi:10.2337/db07-0043 35   134 Cited 152 times in Scopus152 0
Flanagan, S. E., Patch, A. M., Mackay, D. J. G., Edghill, E. L., Gloyn, A. L., Robinson, D., Shield, J. P. H., Temple, K., Ellard, S. and Hattersley, A. T. (2008) Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood (vol 56, pg 1930, 2007). Diabetes, 57 2: 523-523. doi:10.2337/db08-er02 43   4 Cited 0 times in Scopus0 0
Patch, A. M., Flanagan, S. E., Boustred, C., Hattersley, A. T. and Ellard, S. (2007). Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period. In: Eighth Servier-IGIS Symposium: Animal Models of Islet Dysfunction. 8th Servier-IGIS Symposium: Animal Models of Islet Dysfunction, Saint Jean Cap Ferrat, France, (28-39). 8-11 March 2007. doi:10.1111/j.1463-1326.2007.00772.x 36   22 Cited 36 times in Scopus36 0
Klupa, T., Kowalska, I., Wyka, K., Skupien, J., Patch, A.-M., Flanagan, S. E., Noczynska, A., Arciszewska, M., Ellard, S., Hattersley, A. T., Sieradzki, J., Mlynarski, W. and Malecki, M. T. (2009) Mutations in the ABCC8 (SUR1 subunit of the K-ATP channel) gene are associated with a variable clinical phenotype. Clinical Endocrinology, 71 3: 358-362. doi:10.1111/j.1365-2265.2008.03478.x 32   16 Cited 17 times in Scopus17 0
Barbarini, D. S., Haslinger, V., Schmidt, K., Patch, A. M., Muller, G. and Simma, B. (2009) Neonatal diabetes mellitus due to pancreas agenesis: A new case report and review of the literature. Pediatric Diabetes, 10 7: 487-491. doi:10.1111/j.1399-5448.2009.00523.x 32   1 Cited 4 times in Scopus4 0
Dimitri, P., Warner, J. T., Minton, J. A. L, Patch, A. M., Ellard, S., Hattersley, A. T., Barr, S., Hawkes, D., Wales, J. K. and Gregory, J. W. (2011) Novel GLIS3 mutations demonstrate an extended multisystem phenotype. European Journal of Endocrinology, 164 3: 437-443. doi:10.1530/EJE-10-0893 28   11 Cited 13 times in Scopus13 0
Biankin, Andrew V., Waddell, Nicola, Kassahn, Karin S., Gingras, Marie-Claude, Muthuswamy, Lakshmi B., Johns, Amber L., Miller, David K., Wilson, Peter J., Patch, Ann-Marie, Wu, Jianmin, Chang, David K., Cowley, Mark J., Gardiner, Brooke B., Song, Sarah, Harliwong, Ivon, Idrisoglu, Senel, Nourse, Craig, Nourbakhsh, Ehsan, Manning, Suzanne, Wani, Shivangi, Gongora, Milena, Pajic, Marina, Scarlett, Christopher J., Gill, Anthony J., Pinho, Andreia V., Rooman, Ilse, Anderson, Matthew, Holmes, Oliver, Leonard, Conrad, Taylor, Darrin, Wood, Scott, Xu, Christina, Nones, Katia, Fink, J. Lynn, Christ, Angelika, Bruxner, Tim, Cloonan, Nicole, Kolle, Gabriel, Newell, Felicity, Pinese, Mark, Mead, R. Scott, Humphris, Jeremy L., Kaplan, Warren, Jones, Marc D., Colvin, Emily K., Nagrial, Adnan M., Humphrey, Emily S., Chou, Angela, Chin, Venessa T., Chantrill, Lorraine A., Mawson, Amanda, Samra, Jaswinder S., Kench, James G., Lovell, Jessica A., Daly, Roger J., Merrett, Neil D., Toon, Christopher, Epari, Krishna, Nguyen, Nam Q., Barbour, Andrew, Zeps, Nikolajs, Australian Pancreatic Cancer Genome Initiative, Pearson, John V. and Grimmond, Sean M. (2012) Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature, 491 7424: 399-405. doi:10.1038/nature11547 207   232 Cited 226 times in Scopus226 101
Rubio-Cabezas, Oscar, Puri, Vishwajeet, Murano, Incoronata, Saudek, Vladimir, Semple, Robert K., Dash, Satya, Hyden, Caroline S. S., Bottomley, William, Vigouroux, Corinne, Magre, Jocelyne, Raymond-Barker, Philippa, Murgatroyd, Peter R., Chawla, Anil, Skepper, Jeremy N., Chatterjee, V. Krishna, Suliman, Sara, LD Screening Consortium, Patch, Ann-Marie, Agarwal, Anil K., Garg, Abhimanyu, Barroso, Ines, Cinti, Saverio, Czech, Michael P., Argente, Jesus, O'Rahilly, Stephen and Savage, David B. (2009) Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC. EMBO Molecular Medicine, 1 5: 280-287. doi:10.1002/emmm.200900037 73   68 Cited 79 times in Scopus79 0
Ellard, Sian, Flanagan, Sarah E., Girard, Christophe A., Patch, Ann-Marie, Harries, Lorna W., Parrish, Andrew, Edghill, Emma L., Mackay, Deborah J. G., Proks, Peter, Shimomura, Kenju, Haberland, Holger, Carson, Dennis J., Sheild, Julian P. H., Hattersley, Andrew T. and Ashcroft, Frances M. (2007) Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. American Journal of Human Genetics, 81 2: 375-382. doi:10.1086/519174 53   75 Cited 90 times in Scopus90 0
Slingerland, AS, Flanagan, SE, Shields, B, Patch, AM, Bruining, GJ, Noordam, K, Cinek, O, Malecki, M, Gach, A, Mlynarski, W, Sumnik, Z, Dzivite, I, Ellard, SE and Hattersley, AT (2007). Prevalence and incidence of neonatal diabetes in children and adults in the largest international series: increased interest, extended definition, continued misclassification?. In: Diabetologia. 43rd Annual Meeting of the European-Association-for-the-Study-of-Diabetes, Amsterdam Netherlands, (S34-S34). Sep 18-21, 2007. 45   0
Edghill, E. L., Locke, J., Flanagan, S. E., Patch, A. M., Harries, L. W., Ellard, S. and Hattersley, A. T. (2008). Recessive mutations in the INS gene; a novel common cause of permanent neonatal diabetes in consanguineous pedigrees. In: Abstracts of the 44th EASD Annual Meeting of the European Association for the Study of Diabetes. 44th EASD Annual Meeting of the European Association for the Study of Diabetes, Rome, Italy, (S104-S104). 8-11 September 2008. doi:10.1007/s00125-008-1117-6 28   2 0
Garin, Intza, Edghill, Emma L., Akerman, Ildem, Rubio-Cabezas, Oscar, Rica, Itxaso, Locke, Jonathan M., Maestro, Miguel Angel, Alshaikh, Adnan, Bundak, Ruveyde, del Castillo, Gabriel, Deeb, Asma, Deiss, Dorothee, Fernandez, Juan M., Godbole, Koumudi, Hussain, Khalid, O'Connell, Michele, Klupa, Thomasz, Kolouskova, Stanislava, Mohsin, Fauzia, Perlman, Kusiel, Sumnik, Zdenek, Rial, Jose M., Ugarte, Estibaliz, Vasanthi, Thiruvengadam, Neonatal Diabetes International Group, Johnstone, Karen, Flanagan, Sarah E., Martinez, Rosa, Castano, Carlos, Patch, Ann-Marie, Fernandez-Rebollo, Eduardo, Raile, Klemens, Morgan, Noel, Harries, Lorna W., Castano, Luis, Ellard, Sian, Ferrer, Jorge, de Nanclares, Guiomar Perez and Hattersley, Andrew T. (2010) Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. Proceedings of the National Academy of Sciences of the USA, 107 7: 3105-3110. doi:10.1073/pnas.0910533107 80   49 Cited 55 times in Scopus55 1
Shaw-Smith, Charles, Flanagan, Sarah E., Patch, Ann-Marie, Grulich-Henn, Juergen, Habeb, Abdelhadi M., Hussain, Khalid, Pomahacova, Renata, Matyka, Krystyna, Abdullah, Mohamed, Hattersley, Andrew T. and Ellard, Sian (2012) Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia. Pediatric Diabetes, 13 4: 307-314. doi:10.1111/j.1399-5448.2012.00855.x 32   0 Cited 5 times in Scopus5 0
Smith, Stuart B., Qu, Hui-Qi, Taleb, Nadine, Kishimoto, Nina Y., Scheel, David W., Lu, Yang, Patch, Ann-Marie, Grabs, Rosemary, Wang, Juehu, Lynn, Francis C., Miyatsuka, Takeshi, Mitchell, John, Seerke, Rina, Désir, Julie, Vanden Eijnden, Serge, Abramowicz, Marc, Kacet, Nadine, Weill, Jacques, Renard, Marie-Ève, Gentile, Mattia, Hansen, Inger, Dewar, Ken, Hattersely, Andrew T., Wang, Rennian, Wilson, Maria E., Johnson, Jeffrey D., Polychronakos, Constantin and German, Michael S. (2010) Rfx6 directs islet formation and insulin production in mice and humans. Nature, 463 7282: 775-780. doi:10.1038/nature08748 54   90 Cited 97 times in Scopus97 1
Mann, Karen M., Ward, Jerrold M., Yew, Christopher Chin Kuan, Kovochich, Anne, Dawson, David W., Black, Michael A., Brett, Benjamin T., Sheetz, Benjamin T., Dupuy, Adam J., Chang, David K., Biankin, Andrew V., Waddell, Nicola, Kassahn, Karin S., Grimmond, Sean M., Rust, Alistair G., Adams, David J., Jenkins, Nancy A., Copeland, Neal G., Australian Pancreatic Cancer Genome Initiative, Miller, David K., Wilson, Peter J., Patch, Ann-Marie, Song, Sarah, Harliwong, Ivon, Idrisoglu, Senel, Nourse, Craig, Nourbakhsh, Ehsan, Manning, Suzanne, Wani, Shivangi, Gongora, Milena, Anderson, Matthew, Holmes, Oliver, Leonard, Conrad, Taylor, Darrin, Wood, Scott, Xu, Christina, Nones, Katia, Fink, J. Lynn, Christ, Angelika, Bruxner, Tim, Cloonan, Nicole, Newell, Felicity and Pearson, John V. (2012) Sleeping Beauty mutagenesis reveals cooperating mutations and pathways in pancreatic adenocarcinoma. Proceedings of the National Academy of Sciences of the United States of America, 109 16: 5934-5941. doi:10.1073/pnas.1202490109 105   50 Cited 52 times in Scopus52 9
Kassahn, Karin S., Holmes, Oliver, Nones, Katia, Patch, Ann-Marie, Miller, David K., Christ, Angelika K., Harliwong, Ivon, Bruxner, Timothy J., Xu, Qinying, Anderson, Matthew, Wood, Scott, Leonard, Conrad, Taylor, Darrin, Newell, Felicity, Song, Sarah, Idrisoglu, Senel, Nourse, Craig, Nourbakhsh, Ehsan, Manning, Suzanne, Wani, Shivangi, Steptoe, Anita, Pajic, Marina, Cowley, Mark J., Pinese, Mark, Chang, David K., Gill, Anthony J., Johns, Amber L., Wu, Jianmin, Wilson, Peter J., Fink, Lynn, Biankin, Andrew V., Waddell, Nicola, Grimmond, Sean M. and Pearson, John V. (2013) Somatic point mutation calling in low cellularity tumors. PloS One, 8 11: e74380.1-e74380.10. doi:10.1371/journal.pone.0074380 81   2 Cited 3 times in Scopus3 2
Klupa, T, Gach, A, Patch, AM, Skupien, J, Pietrzak, I, Ellard, S, Hattersley, A, Mlynarski, W, Malecki, MT and Sieradzki, J (2007). The prevalence estimation of PNDM in Poland: the relative contribution of mutations in KCNJ11 and ABCC8 genes. In: Diabetologia. 43rd Annual Meeting of the European-Association-for-the-Study-of-Diabetes, Amsterdam Netherlands, (S124-S124). Sep 18-21, 2007. 24   0
Boby, T., Patch, A.-M. and Aves, S. J. (2005) TRbase: a database relating tandem repeats to disease genes for the human genome. Bioinformatics, 21 6: 811-816. doi:10.1093/bioinformatics/bti059 24   24 Cited 28 times in Scopus28 0
Flanagan, Sarah E., Patch, Ann-Marie and Ellard, Sian (2010) Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations. Genetic Testing and Molecular Biomarkers, 14 4: 533-537. doi:10.1089/gtmb.2010.0036 148   61 Cited 67 times in Scopus67 0
Klupa, T., Kowalska, I., Wyka, K., Patch, A. M., Skupien, J., Noczynska, A., Ellard, S., Hattersley, A., Sieradzki, J., Mlynarski, W. and Malecki, M. T. (2008). Variable clinical picture of mutations in the ABCC8 gene: can it be modified by the sensitivity to insulin or the islet-specific antibodies?. In: Abstracts of the 44th EASD Annual Meeting of the European Association for the Study of Diabetes. 44th EASD Annual Meeting of the European Association for the Study of Diabetes, Rome, Italy, (S121-S121). 8-11 September 2008. doi:10.1007/s00125-008-1117-6 30   0 0
Rubio-Cabezas, Oscar, Patch, Ann-Marie, Minton, Jayne A. L., Flanagan, Sarah E., Edghill, Emma L., Hussain, Khalid, Balafrej, Amina, Deeb, Asma, Buchanan, Charles R., Jefferson, Ian G., Mutair, Angham, The Neonatal Diabetes International Collaborative Group, Hattersley, Andrew T. and Ellard, Sian (2009) Wolcott-Rallison Syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families. The Journal of Clinical Endocrinology and Metabolism, 94 11: 4162-4170. doi:10.1210/jc.2009-1137 60   37 Cited 36 times in Scopus36 0