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Clinical Genetics|April 27, 2020
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndromeSara C Reichert, Rachel Li, Scott A Turner, 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.
Human Mutation|February 7, 2020
Update of variants identified in the pancreatic β-cell K<sub>ATP</sub> channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetesElisa De Franco, Cécile Saint-Martin, Klaus Brusgaard, 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.
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.
The Journal of Clinical Endocrinology and Metabolism|September 7, 2020
Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer MutationsHuseyin Demirbilek, Atilla Cayir, Sarah E Flanagan, et al.
Clinical Epigenetics|November 8, 2022
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disordersDeborah Mackay, Jet Bliek, Masayo Kagami, et al.
Nature Genetics|November 5, 2022
Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinismMatthew N Wakeling, Nick D L Owens, Jessica R Hopkinson, et al.
The Journal of Experimental Medicine|April 18, 2024
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiencyMatthew B Johnson, Masato Ogishi, Clara Domingo-Vila, et al.
American Journal of Human Genetics|June 18, 2021
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylationDaniel L Polla, Andrew C Edmondson, Sandrine Duvet, et al.
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