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
Published 2020-01-01

Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism

by Jayne AL Houghton, Indraneel Banerjee, Guftar Shaikh, Shamila Jabbar, Thomas W Laver, Edmund Cheesman, Amish Chinnoy, Daphne Yau, Maria Salomon‐Estebanez, Mark J Dunne, Sarah E Flanagan
Published 2020-01-01

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.

by Daphne Yau, Thomas W Laver, Antonia Dastamani, Senthil Senniappan, Jayne A L Houghton, Guftar Shaikh, Tim Cheetham, Talat Mushtaq, Ritika R Kapoor, Tabitha Randell, Sian Ellard, Pratik Shah, Indraneel Banerjee, Sarah E Flanagan
Published 2020-01-01

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance

by Kashyap A. Patel, Jarno Kettunen, Markku Laakso, Alena Stančáková, Thomas W. Laver, Kevin Colclough, Matthew B. Johnson, Marc Abramowicz, Leif Groop, Päivi J. Miettinen, Maggie H. Shepherd, Sarah E. Flanagan, Sian Ellard, Nobuya Inagaki, Andrew T. Hattersley, Tiinamaija Tuomi, Miriam Cnop, Michael N. Weedon
Published 2017-10-01

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
Published 2020-08-01