Congenital hyperinsulinism presenting with different clinical, biochemical and molecular genetic spectra by Enver Şimşek, Çiğdem Binay, Sarah E Flanagan, Sian Ellard, Khalid Hussain, Sare Kabukçuoğlu

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Pancreatic endocrine and exocrine function in children following near-total pancreatectomy for diffuse congenital hyperinsulinism. by Ved Bhushan Arya, Senthil Senniappan, Huseyin Demirbilek, Syeda Alam, Sarah E Flanagan, Sian Ellard, Khalid Hussain

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Use of HbA1c in the identification of patients with hyperglycaemia caused by a glucokinase mutation: observational case control studies. by Anna M Steele, Kirsty J Wensley, Sian Ellard, Rinki Murphy, Maggie Shepherd, Kevin Colclough, Andrew T Hattersley, Beverley M Shields

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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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tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans. by Mariana Igoillo-Esteve, Anne Genin, Nelle Lambert, Julie Désir, Isabelle Pirson, Baroj Abdulkarim, Nicolas Simonis, Anais Drielsma, Lorella Marselli, Piero Marchetti, Pierre Vanderhaeghen, Décio L Eizirik, Wim Wuyts, Cécile Julier, Ali J Chakera, Sian Ellard, Andrew T Hattersley, Marc Abramowicz, Miriam Cnop

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Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease by Lindsey Van Haute, Petra Páleníková, Jia Xin Tang, Pavel A Nash, Mariella T Simon, Angela Pyle, Monika Oláhová, Christopher A Powell, Pedro Rebelo-Guiomar, Alexander Stover, Michael Champion, Charulata Deshpande, Emma L Baple, Karen L Stals, Sian Ellard, Olivia Anselem, Clémence Molac, Giulia Petrilli, Laurence Loeuillet, Sarah Grotto, Tania Attie-Bitach, Jose E Abdenur, Robert W Taylor, Michal Minczuk

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