Sirolimus: Efficacy and Complications in Children With Hyperinsulinemic Hypoglycemia: A 5-Year Follow-Up Study

Por Maria, Güemes, Antonia, Dastamani, Michael, Ashworth, Kate, Morgan, Sian, Ellard, Sarah, Flanagan E, Mehul, Dattani, Pratik, Shah
Publicado no J Endocr Soc (2019)

SavvyCNV: Genome-wide CNV calling from off-target reads.

Por Thomas W Laver, Elisa De Franco, Matthew B Johnson, Kashyap A Patel, Sian Ellard, Michael N Weedon, Sarah E Flanagan, Matthew N Wakeling
Publicado em 2022-03-01

Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood

Por Courtney E. French, Helen Dolling, Karyn Mégy, Alba Sanchis-Juan, Ajay Kumar, Isabelle Delon, Matthew Wakeling, Lucy Mallin, Shruti Agrawal, Topun Austin, Florence Walston, Soo-Mi Park, Alasdair Parker, Chinthika Piyasena, Kimberley Bradbury, Sian Ellard, David H. Rowitch, F. Lucy Raymond
Publicado em 2022-07-01

Clinical Diversity in Focal Congenital Hyperinsulinism in Infancy Correlates With Histological Heterogeneity of Islet Cell Lesions

Por Ross J. Craigie, Maria Salomon-Estebanez, Maria Salomon-Estebanez, Daphne Yau, Daphne Yau, Bing Han, Walaa Mal, Melanie Newbould, Edmund Cheesman, Stefania Bitetti, Zainab Mohamed, Zainab Mohamed, Rakesh Sajjan, Raja Padidela, Mars Skae, Sarah Flanagan, Sian Ellard, Karen E. Cosgrove, Indraneel Banerjee, Indraneel Banerjee, Mark J. Dunne
Publicado em 2018-10-01

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]

Por 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
Publicado em 2020-08-01