Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Non-surgical Treatment May be Appropriate for Most Chinese Children With Monogenic Congenital Hyperinsulinism Based on a Retrospective Study of 121 Patients.
Cheng M et al.
Pediatric Diabetes, 2024
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.
Billings LK et al.
Endocrinology, Diabetes & Metabolism, 2022
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore SF et al.
American Journal of Human Genetics, 2022
Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes.
Bowman P et al.
Diabetes Care, 2021
The difficult management of persistent, non-focal congenital hyperinsulinism: A retrospective review from a single, tertiary center.
Rasmussen AG et al.
Pediatric Diabetes, 2020
Clinical and Genetic Characterization of 153 Patients with Persistent or Transient Congenital Hyperinsulinism.
Männistö JME et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia.
Xu ZD et al.
Endocrine Connections, 2018
Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension.
Bohnen MS et al.
Circulation. Genomic and Precision Medicine, 2018
mTOR Inhibitors for the Treatment of Severe Congenital Hyperinsulinism: Perspectives on Limited Therapeutic Success.
Szymanowski M et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.
Kelly L et al.
Protein Science : a Publication of the Protein Society, 2010
Case report: pathological features of aberrant pancreatic development in congenital hyperinsulinism due to ABCC8 mutations.
Brunetti-Pierri N et al.
Annals of Clinical and Laboratory Science, 2008
Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies.
Muzyamba M et al.
Clinical Endocrinology, 2007