Analysis of large‐scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia von Laver, Thomas W, Weedon, Michael N, Caswell, Richard, Hussain, Khalid, Ellard, Sian, Flanagan, Sarah E

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REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants von Hopkins, Jasmin J., Wakeling, Matthew N., Johnson, Matthew B., Flanagan, Sarah E., Laver, Thomas W.

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Meiotic and mitotic behaviour of a ring/deleted chromosome 22 in human embryos determined by preimplantation genetic diagnosis for a maternal carrier von Mantzouratou, Anna, Mania, Anastasia, Apergi, Marianna, Laver, Sarah, Serhal, Paul, Delhanty, Jda

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Development of the Activity Card Sort—United Kingdom Version (ACS-UK) von Laver-Fawcett, Alison J., Mallinson, Sarah H.

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Cryptic lineage diversity, body size divergence, and sympatry in a species complex of Australian lizards (Gehyra) von Moritz, Craig C., Pratt, Renae C., Bank, Sarah, Bourke, Gayleen, Bragg, Jason G., Doughty, Paul, Keogh, J. Scott, Laver, Rebecca J., Potter, Sally, Teasdale, Luisa C., Tedeschi, Leonardo G., Oliver, Paul M.

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Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism von Houghton, Jayne AL, Banerjee, Indraneel, Shaikh, Guftar, Jabbar, Shamila, Laver, Thomas W, Cheesman, Edmund, Chinnoy, Amish, Yau, Daphne, Salomon‐Estebanez, Maria, Dunne, Mark J, Flanagan, Sarah E

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Video modelling interventions improve social communication skills for individuals with Autism Spectrum Disorder von Laver, Kate, Wilkes‐Gillan, Sarah

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Development of the Just Culture Assessment Tool (JCAT): Measuring the Perceptions of HealthCare Professionals in Hospitals von Petschonek, Sarah, Burlison, Jonathan, Cross, Carl, Martin, Kathy, Laver, Joseph, Landis, Ronald S., Hoffman, James M.

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Development of the Just Culture Assessment Tool: Measuring the Perceptions of Health-Care Professionals in Hospitals von Petschonek, Sarah, Burlison, Jonathan, Cross, Carl, Martin, Kathy, Laver, Joseph, Landis, Ronald S., Hoffman, James M.

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Children's Reviews

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Development of the Activity Card Sortâ[euro]"United Kingdom Version (ACS-UK) von Laver-Fawcett, Alison J, Mallinson, Sarah H

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Recueil des sotties françaises , ii . Édité par Marie Bouhaïk-Gironès, Jelle Koopmans et Katell Lavéant. Sous la direction de Jelle Koopmans von Gordon, Sarah

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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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Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389 von Yau, Daphne, Laver, Thomas W, Dastamani, Antonia, Senniappan, Senthil, Houghton, Jayne A L, Shaikh, Guftar, Cheetham, Tim, Mushtaq, Talat, Kapoor, Ritika R, Randell, Tabitha, Ellard, Sian, Shah, Pratik, Banerjee, Indraneel, Flanagan, Sarah E

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Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance von Patel, Kashyap A., Kettunen, Jarno, Laakso, Markku, Stančáková, Alena, Laver, Thomas W., Colclough, Kevin, Johnson, Matthew B., Abramowicz, Marc, Groop, Leif, Miettinen, Päivi J., Shepherd, Maggie H., Flanagan, Sarah E., Ellard, Sian, Inagaki, Nobuya, Hattersley, Andrew T., Tuomi, Tiinamaija, Cnop, Miriam, Weedon, Michael N.

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Laver son linge sale en famille : le chez-soi par l’analyse des pratiques d’entretien du linge von Klein, Noé, Piazzesi, Chiara, Belleau, Hélène

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Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism von Wakeling, Matthew N., Owens, Nick D. L., Hopkinson, Jessica R., Johnson, Matthew B., Houghton, Jayne A. L., Dastamani, Antonia, Flaxman, Christine S., Wyatt, Rebecca C., Hewat, Thomas I., Hopkins, Jasmin J., Laver, Thomas W., van Heugten, Rachel, Weedon, Michael N., De Franco, Elisa, Patel, Kashyap A., Ellard, Sian, Morgan, Noel G., Cheesman, Edmund, Banerjee, Indraneel, Hattersley, Andrew T., Dunne, Mark J., Richardson, Sarah J., Flanagan, Sarah E.

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Update of variants identified in the pancreatic β-cell K ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes von De Franco, Elisa, Saint-Martin, Cécile, Brusgaard, Klaus, Knight Johnson, Amy E, Aguilar-Bryan, Lydia, Bowman, Pamela, Arnoux, Jean-Baptiste, Larsen, Annette Rønholt, Sanyoura, May, Greeley, Siri Atma W, Calzada-León, Raúl, Harman, Bradley, Houghton, Jayne A L, Nishimura-Meguro, Elisa, Laver, Thomas W, Ellard, Sian, Del Gaudio, Daniela, Christesen, Henrik Thybo, Bellanné-Chantelot, Christine, Flanagan, Sarah E

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Update of variants identified in the pancreatic β‐cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes von De Franco, Elisa, Saint‐Martin, Cécile, Brusgaard, Klaus, Knight Johnson, Amy E., Aguilar‐Bryan, Lydia, Bowman, Pamela, Arnoux, Jean‐Baptiste, Larsen, Annette Rønholt, May, Sanyoura, Greeley, Siri Atma W., Calzada‐León, Raúl, Harman, Bradley, Houghton, Jayne A. L., Nishimura‐Meguro, Elisa, Laver, Thomas W., Ellard, Sian, Gaudio, Daniela, Christesen, Henrik Thybo, Bellanné‐Chantelot, Christine, Flanagan, Sarah E.

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Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11 von Hewat, Thomas I, Yau, Daphne, Jerome, Joseph C S, Laver, Thomas W, Houghton, Jayne A L, Shields, Beverley M, Flanagan, Sarah E, Patel, Kashyap A

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