The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study
De Franco, Elisa, PhD, Flanagan, Sarah E, PhD, Houghton, Jayne AL, PhD, Allen, Hana Lango, PhD, Mackay, Deborah JG, PhD, Temple, I Karen, Prof, Ellard, Sian, Prof, Hattersley, Andrew T, Prof
Published in The Lancet (British edition) (05.09.2015)
Published in The Lancet (British edition) (05.09.2015)
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HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum
Clissold, Rhian L, Hamilton, Alexander J, Hattersley, Andrew T, Ellard, Sian, Bingham, Coralie
Published in Nature reviews. Nephrology (01.02.2015)
Published in Nature reviews. Nephrology (01.02.2015)
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Population-Based Assessment of a Biomarker-Based Screening Pathway to Aid Diagnosis of Monogenic Diabetes in Young-Onset Patients
Shields, Beverley M, Shepherd, Maggie, Hudson, Michelle, McDonald, Timothy J, Colclough, Kevin, Peters, Jaime, Knight, Bridget, Hyde, Chris, Ellard, Sian, Pearson, Ewan R, Hattersley, Andrew T
Published in Diabetes care (01.08.2017)
Published in Diabetes care (01.08.2017)
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ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents
Hattersley, Andrew T, Greeley, Siri A W, Polak, Michel, Rubio-Cabezas, Oscar, Njølstad, Pål R, Mlynarski, Wojciech, Castano, Luis, Carlsson, Annelie, Raile, Klemens, Chi, Dung V, Ellard, Sian, Craig, Maria E
Published in Pediatric diabetes (01.10.2018)
Published in Pediatric diabetes (01.10.2018)
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Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia
Colclough, Kevin, Bellanne-Chantelot, Christine, Saint-Martin, Cecile, Flanagan, Sarah E., Ellard, Sian
Published in Human mutation (01.05.2013)
Published in Human mutation (01.05.2013)
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Prevalence, Characteristics and Clinical Diagnosis of Maturity Onset Diabetes of the Young Due to Mutations in HNF1A, HNF4A, and Glucokinase: Results From the SEARCH for Diabetes in Youth
Pihoker, Catherine, Gilliam, Lisa K, Ellard, Sian, Dabelea, Dana, Davis, Cralen, Dolan, Lawrence M, Greenbaum, Carla J, Imperatore, Giuseppina, Lawrence, Jean M, Marcovina, Santica M, Mayer-Davis, Elizabeth, Rodriguez, Beatriz L, Steck, Andrea K, Williams, Desmond E, Hattersley, Andrew T, for the SEARCH for Diabetes in Youth Study Group
Published in The journal of clinical endocrinology and metabolism (01.10.2013)
Published in The journal of clinical endocrinology and metabolism (01.10.2013)
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Prospective functional classification of all possible missense variants in PPARG
Majithia, Amit R, Tsuda, Ben, Agostini, Maura, Gnanapradeepan, Keerthana, Rice, Robert, Peloso, Gina, Patel, Kashyap A, Zhang, Xiaolan, Broekema, Marjoleine F, Patterson, Nick, Duby, Marc, Sharpe, Ted, Kalkhoven, Eric, Rosen, Evan D, Barroso, Inês, Ellard, Sian, Kathiresan, Sekar, O'Rahilly, Stephen, Chatterjee, Krishna, Florez, Jose C, Mikkelsen, Tarjei, Savage, David B, Altshuler, David
Published in Nature genetics (01.12.2016)
Published in Nature genetics (01.12.2016)
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Journal Article
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease
Flanagan, Sarah E, Haapaniemi, Emma, Russell, Mark A, Caswell, Richard, Allen, Hana Lango, De Franco, Elisa, McDonald, Timothy J, Rajala, Hanna, Ramelius, Anita, Barton, John, Heiskanen, Kaarina, Heiskanen-Kosma, Tarja, Kajosaari, Merja, Murphy, Nuala P, Milenkovic, Tatjana, Seppänen, Mikko, Lernmark, Åke, Mustjoki, Satu, Otonkoski, Timo, Kere, Juha, Morgan, Noel G, Ellard, Sian, Hattersley, Andrew T
Published in Nature genetics (01.08.2014)
Published in Nature genetics (01.08.2014)
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Journal Article
Sirolimus Therapy in Infants with Severe Hyperinsulinemic Hypoglycemia
Senniappan, Senthil, Alexandrescu, Sanda, Tatevian, Nina, Shah, Pratik, Arya, Ved, Flanagan, Sarah, Ellard, Sian, Rampling, Dyanne, Ashworth, Michael, Brown, Robert E, Hussain, Khalid
Published in The New England journal of medicine (20.03.2014)
Published in The New England journal of medicine (20.03.2014)
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Journal Article
SavvyCNV: Genome-wide CNV calling from off-target reads
Laver, Thomas W, De Franco, Elisa, Johnson, Matthew B, Patel, Kashyap A, Ellard, Sian, Weedon, Michael N, Flanagan, Sarah E, Wakeling, Matthew N
Published in PLoS computational biology (01.03.2022)
Published in PLoS computational biology (01.03.2022)
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Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia
Osbak, Kara K, Colclough, Kevin, Saint-Martin, Cecile, Beer, Nicola L, Bellanné-Chantelot, Christine, Ellard, Sian, Gloyn, Anna L
Published in Human mutation (01.11.2009)
Published in Human mutation (01.11.2009)
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Journal Article
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress
De Franco, Elisa, Lytrivi, Maria, Ibrahim, Hazem, Montaser, Hossam, Wakeling, Matthew N, Fantuzzi, Federica, Patel, Kashyap, Demarez, Céline, Cai, Ying, Igoillo-Esteve, Mariana, Cosentino, Cristina, Lithovius, Väinö, Vihinen, Helena, Jokitalo, Eija, Laver, Thomas W, Johnson, Matthew B, Sawatani, Toshiaki, Shakeri, Hadis, Pachera, Nathalie, Haliloglu, Belma, Ozbek, Mehmet Nuri, Unal, Edip, Yıldırım, Ruken, Godbole, Tushar, Yildiz, Melek, Aydin, Banu, Bilheu, Angeline, Suzuki, Ikuo, Flanagan, Sarah E, Vanderhaeghen, Pierre, Senée, Valérie, Julier, Cécile, Marchetti, Piero, Eizirik, Decio L, Ellard, Sian, Saarimäki-Vire, Jonna, Otonkoski, Timo, Cnop, Miriam, Hattersley, Andrew T
Published in The Journal of clinical investigation (01.12.2020)
Published in The Journal of clinical investigation (01.12.2020)
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Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts
De Franco, Elisa, Flanagan, Sarah E, Yagi, Takuya, Abreu, Damien, Mahadevan, Jana, Johnson, Matthew B, Jones, Garan, Acosta, Fernanda, Mulaudzi, Mphele, Lek, Ngee, Oh, Vera, Petz, Oliver, Caswell, Richard, Ellard, Sian, Urano, Fumihiko, Hattersley, Andrew T
Published in Diabetes (New York, N.Y.) (01.07.2017)
Published in Diabetes (New York, N.Y.) (01.07.2017)
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Recommendations for clinical interpretation of variants found in non-coding regions of the genome
Ellingford, Jamie M, Ahn, Joo Wook, Bagnall, Richard D, Baralle, Diana, Barton, Stephanie, Campbell, Chris, Downes, Kate, Ellard, Sian, Duff-Farrier, Celia, FitzPatrick, David R, Greally, John M, Ingles, Jodie, Krishnan, Neesha, Lord, Jenny, Martin, Hilary C, Newman, William G, O'Donnell-Luria, Anne, Ramsden, Simon C, Rehm, Heidi L, Richardson, Ebony, Singer-Berk, Moriel, Taylor, Jenny C, Williams, Maggie, Wood, Jordan C, Wright, Caroline F, Harrison, Steven M, Whiffin, Nicola
Published in Genome medicine (19.07.2022)
Published in Genome medicine (19.07.2022)
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Journal Article
Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes
Patel, K A, Oram, R A, Flanagan, S E, De Franco, E, Colclough, K, Shepherd, M, Ellard, S, Weedon, M N, Hattersley, A T
Published in Diabetes (New York, N.Y.) (01.07.2016)
Published in Diabetes (New York, N.Y.) (01.07.2016)
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Journal Article
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis
Weedon, Michael N, Cebola, Ines, Patch, Ann-Marie, Flanagan, Sarah E, De Franco, Elisa, Caswell, Richard, Rodríguez-Seguí, Santiago A, Shaw-Smith, Charles, Cho, Candy H-H, Allen, Hana Lango, Houghton, Jayne Al, Roth, Christian L, Chen, Rongrong, Hussain, Khalid, Marsh, Phil, Vallier, Ludovic, Murray, Anna, Ellard, Sian, Ferrer, Jorge, Hattersley, Andrew T
Published in Nature genetics (01.01.2014)
Published in Nature genetics (01.01.2014)
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