Rapid genomic testing for critically ill children: time to become standard of care? von Stark, Zornitza, Ellard, Sian

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The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study von 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

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria von Pejaver, Vikas, Byrne, Alicia B., Feng, Bing-Jian, Pagel, Kymberleigh A., Mooney, Sean D., Karchin, Rachel, O’Donnell-Luria, Anne, Harrison, Steven M., Tavtigian, Sean V., Greenblatt, Marc S., Biesecker, Leslie G., Radivojac, Predrag, Brenner, Steven E., Biesecker, Leslie G., Harrison, Steven M., Tayoun, Ahmad A., Berg, Jonathan S., Brenner, Steven E., Cutting, Garry R., Ellard, Sian, Greenblatt, Marc S., Kang, Peter, Karbassi, Izabela, Karchin, Rachel, Mester, Jessica, O’Donnell-Luria, Anne, Pesaran, Tina, Plon, Sharon E., Rehm, Heidi L., Strande, Natasha T., Tavtigian, Sean V., Topper, Scott

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Diabetes Mellitus in Neonates and Infants: Genetic Heterogeneity, Clinical Approach to Diagnosis, and Therapeutic Options von Rubio-Cabezas, Oscar, Ellard, Sian

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Population-Based Assessment of a Biomarker-Based Screening Pathway to Aid Diagnosis of Monogenic Diabetes in Young-Onset Patients von 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

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ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents von 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

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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 von Colclough, Kevin, Bellanne-Chantelot, Christine, Saint-Martin, Cecile, Flanagan, Sarah E., Ellard, Sian

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Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup von Walker, Logan C., Hoya, Miguel de la, Wiggins, George A.R., Lindy, Amanda, Vincent, Lisa M., Parsons, Michael T., Canson, Daffodil M., Bis-Brewer, Dana, Cass, Ashley, Tchourbanov, Alexander, Zimmermann, Heather, Byrne, Alicia B., Pesaran, Tina, Karam, Rachid, Harrison, Steven M., Spurdle, Amanda B., Biesecker, Leslie G., Harrison, Steven M., Tayoun, Ahmad A., Berg, Jonathan S., Brenner, Steven E., Cutting, Garry R., Ellard, Sian, Greenblatt, Marc S., Kang, Peter, Karbassi, Izabela, Karchin, Rachel, Mester, Jessica, O’Donnell-Luria, Anne, Pesaran, Tina, Plon, Sharon E., Rehm, Heidi L., Strande, Natasha T., Tavtigian, Sean V., Topper, Scott

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Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young von Ellard, Sian, Colclough, Kevin

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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 i... von 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

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Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes von Patel, K A, Oram, R A, Flanagan, S E, De Franco, E, Colclough, K, Shepherd, M, Ellard, S, Weedon, M N, Hattersley, A T

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Recommendations for clinical interpretation of variants found in non-coding regions of the genome von 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

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Prospective functional classification of all possible missense variants in PPARG von 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

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Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease von 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

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SavvyCNV: Genome-wide CNV calling from off-target reads von Laver, Thomas W, De Franco, Elisa, Johnson, Matthew B, Patel, Kashyap A, Ellard, Sian, Weedon, Michael N, Flanagan, Sarah E, Wakeling, Matthew N

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Sirolimus Therapy in Infants with Severe Hyperinsulinemic Hypoglycemia von Senniappan, Senthil, Alexandrescu, Sanda, Tatevian, Nina, Shah, Pratik, Arya, Ved, Flanagan, Sarah, Ellard, Sian, Rampling, Dyanne, Ashworth, Michael, Brown, Robert E, Hussain, Khalid

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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 von 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

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YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress von 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

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Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia von Osbak, Kara K, Colclough, Kevin, Saint-Martin, Cecile, Beer, Nicola L, Bellanné-Chantelot, Christine, Ellard, Sian, Gloyn, Anna L

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Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis von Weedon, Michael N, Cebola, Inês, 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 A L, Roth, Christian L, Chen, Rongrong, Hussain, Khalid, Marsh, Phil, Vallier, Ludovic, Murray, Anna, Ellard, Sian, Ferrer, Jorge, Hattersley, Andrew T

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