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Pediatric Diabetes|January 30, 2009
Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndromeKhalid Hussain, Raja Padidela, Ritika R Kapoor, et al.
Nature Communications|November 29, 2023
Contribution of pks<sup>+</sup> E. coli mutations to colorectal carcinogenesisBingjie Chen, Daniele Ramazzotti, Timon Heide, et al.
Hormone Research in Paediatrics|April 28, 2012
Severe resistance to weight gain, lack of stored triglycerides in adipose tissue, hypoglycaemia, and increased energy expenditure: a novel disorder of energy homeostasisRaja Padidela, Kate Bennett, Azizun Nessa, et al.
European Journal of Human Genetics : EJHG|June 11, 2015
The use of whole-exome sequencing to disentangle complex phenotypesHywel J Williams, John R Hurst, Louise Ocaka, et al.
JIMD Reports|October 9, 2015
Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6Emma S Reid, Hywel Williams, Polona Le Quesne Stabej, et al.
Orphanet Journal of Rare Diseases|February 9, 2017
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypesPolona Le Quesne Stabej, Chela James, Louise Ocaka, et al.
Nature Communications|October 6, 2020
Generation and trapping of a mesoderm biased state of human pluripotencyDylan Stavish, Charlotta Böiers, Christopher Price, et al.
European Journal of Human Genetics : EJHG|June 11, 2015
STAG3 truncating variant as the cause of primary ovarian insufficiencyPolona Le Quesne Stabej, Hywel J Williams, Chela James, et al.
Nature Genetics|March 9, 2023
Immune selection determines tumor antigenicity and influences response to checkpoint inhibitorsLuis Zapata, Giulio Caravagna, Marc J Williams, et al.
Developmental Cell|January 2, 2018
A Human IPS Model Implicates Embryonic B-Myeloid Fate Restriction as Developmental Susceptibility to B Acute Lymphoblastic Leukemia-Associated ETV6-RUNX1Charlotta Böiers, Simon E Richardson, Emma Laycock, et al.
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