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Nature Genetics|November 12, 2013
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesisMichael N Weedon, Ines Cebola, Ann-Marie Patch, et al.Nature Genetics|July 21, 2014
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune diseaseSarah E Flanagan, Emma Haapaniemi, Mark A Russell, et al.European Journal of Human Genetics : EJHG|April 11, 2024
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elementsThomas W Laver, Matthew N Wakeling, Richard C Caswell, et al.Journal of Alzheimer'S Disease : JAD|February 6, 2023
Accumulation of pTau231 at the Postsynaptic Density in Early Alzheimer's DiseaseJaclyn Lilek, Kaouther Ajroud, Alexander Z Feldman, et al.Human Mutation|February 7, 2020
Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetesElisa De Franco, Cécile Saint-Martin, Klaus Brusgaard, et al.Journal of Neuropathology and Experimental Neurology|January 24, 2023
The status of digital pathology and associated infrastructure within Alzheimer's Disease CentersRebeca Scalco, Yamah Hamsafar, Charles L White, et al.American Journal of Human Genetics|April 23, 2019
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological DevelopmentElisa De Franco, Rachel A Watson, Wolfgang J Weninger, et al.Journal of General Internal Medicine|September 25, 2025
Leading Learning Health Systems: Strategies Used to Establish and Conduct a Learning Health SystemDawn M Bravata, Cathy C Schubert, Amy M Kilbourne, et al.Genome Medicine|March 3, 2025
Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severityJasmin J Bennett, Cécile Saint-Martin, Bianca Neumann, et al.Nature Genetics|November 17, 2023
Primate-specific ZNF808 is essential for pancreatic development in humansElisa De Franco, Nick D L Owens, Hossam Montaser, et al.Pageof 51