
Last Updated: 09/26/2026
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Found 32 publications
HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childhood Diabetes Registry: Clinical Insights and Prevalence Informed by Genetic and Functional Evaluation.
Journal: International journal of molecular sciences
Published: February 24, 2026
Functional Characterization of Glucokinase Variants to Aid Clinical Interpretation of Monogenic Diabetes.
Journal: International journal of molecular sciences
Published: November 18, 2025
Implementation of exome sequencing for rare undiagnosed diseases in LMICs: the G2MC rare diseases exome sequencing pilot project.
Journal: Human genetics
Published: November 03, 2025
Exonic Variation and Its Clinical Impact in 7221 Old Order Amish.
Journal: American journal of medical genetics. Part A
Published: April 27, 2025
Attitudes toward returning pathogenic KCNQ1 variant and uptake of cascade screening in the Amish.
Journal: Genetics in medicine open
Published: December 05, 2024
In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY.
Journal: The Journal of molecular diagnostics : JMD
Published: January 03, 2024
The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion.
Journal: Communications medicine
Published: May 10, 2023
A Systematic Review of the use of Precision Diagnostics in Monogenic Diabetes.
Journal: medRxiv : the preprint server for health sciences
Published: May 03, 2023
Associations of genome-wide and regional autozygosity with 96 complex traits in old order Amish.
Journal: BMC genomics
Published: September 01, 2022
Genetic counseling in diabetes mellitus: A practice resource of the National Society of Genetic Counselors.
Journal: Journal of genetic counseling
Published: March 29, 2022
Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.
Journal: American journal of medical genetics. Part A
Published: October 26, 2021
Last Updated: 09/26/2026