Misannotation of multiple-nucleotide variants risks misdiagnosis [version 2; peer review: 2 approved] by Matthew N. Wakeling, Thomas W. Laver, Kevin Colclough, Andrew Parish, Sian Ellard, Emma L. Baple

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

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Infancy‐onset diabetes caused by de‐regulated AMPylation of the human endoplasmic reticulum chaperone BiP by Luke A Perera, Andrew T Hattersley, Heather P Harding, Matthew N Wakeling, Sarah E Flanagan, Ibrahim Mohsina, Jamal Raza, Alice Gardham, David Ron, Elisa De Franco

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Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testing by Sarah E. Flanagan, Isabella-Anna Lazaridi, Jonna M. E. Männistö, Jonna M. E. Männistö, Jasmin J. Bennett, Oguzhan Kalyon, Matthew B. Johnson, Matthew N. Wakeling, Jayne A. L. Houghton, Thomas W. Laver

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Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome [version 2; peer review: 2 approved, 1 approved with reservations] by Indraneel Banerjee, Senthil Senniappan, Thomas W. Laver, Richard Caswell, Martin Zenker, Klaus Mohnike, Tim Cheetham, Matthew N. Wakeling, Dunia Ismail, Belinda Lennerz, Miranda Splitt, Merih Berberoğlu, Susann Empting, Martin Wabitsch, Simone Pötzsch, Pratik Shah, Zeynep Siklar, Charles F. Verge, Michael N. Weedon, Sian Ellard, Khalid Hussain, Sarah E. Flanagan

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Widening the phenotypic spectrum caused by pathogenic PDX1 variants in individuals with neonatal diabetes by A Shaikh, J Dhivyalakshmi, A Kulkarni, Sarah E Flanagan, Andrew T Hattersley, C Alves, A Khadilkar, V Khadilkar, J Wolf, C Oza, A Ozdemir, Z Imane, Evgenia Globa, Nicola Jeffery, Omar Al Nimri, Jayne A L Houghton, Matthew N Wakeling, Kashyap Amratlal Patel, Elisa De Franco, P K Varthakavi, V Skrabic, I Unic, M Amoli, V Thiruvengadam, B Haliloglu, M Yildiz, N Elbarbary

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Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity by Jasmin J. Bennett, Cécile Saint-Martin, Bianca Neumann, Jonna M. E. Männistö, Jayne A. L. Houghton, Susann Empting, Matthew B. Johnson, Thomas W. Laver, Jonathan M. Locke, Benjamin Spurrier, Matthew N. Wakeling, Indraneel Banerjee, Antonia Dastamani, Hüseyin Demirbilek, John Mitchell, Markus Stange, International Congenital Hyperinsulinism Consortium, Klaus Mohnike, Jean-Baptiste Arnoux, Nick D. L. Owens, Martin Zenker, Christine Bellanné-Chantelot, Sarah E. Flanagan

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