Publications
Human NK cell deficiency as a result of biallelic mutations in MCM10. J Clin Invest 130, 5272-5286 (2020).
KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction. Ann Neurol 80, 633-7 (2016).
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes. Am J Med Genet A 170, 2965-2974 (2016).
Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology. J Hepatol 61, 1056-63 (2014).
Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. Pediatr Diabetes 15, 252-6 (2014).
Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Nat Genet 46, 1135-1139 (2014).
Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6. Pediatr Diabetes 15, 67-72 (2014).