Associated Papers
Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients.
Peters B et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
A comprehensive analysis of germline predisposition to early-onset ovarian cancer.
Horackova K et al.
Scientific Reports, 2024
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Lenz D et al.
Hepatology (baltimore, Md.), 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Hammann N et al.
Molecular Genetics and Metabolism, 2024
Osteoporosis related to WNT1 variants: a not infrequent cause of osteoporosis.
Peris P et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2023
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency.
Lenz D et al.
Journal of Clinical Immunology, 2021
Infantile fever-triggered acute liver failure caused by novel neuroblastoma amplified sequence mutations: a case report.
Li W et al.
Bmc Gastroenterology, 2020
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Staufner C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Complex Multisystem Phenotype With Immunodeficiency Associated With NBAS Mutations: Reports of Three Patients and Review of the Literature.
Khoreva A et al.
Frontiers in Pediatrics, 2020
Case Report: Pediatric Recurrent Acute Liver Failure Caused by Neuroblastoma Amplified Sequence (NBAS) Gene Mutations.
Jiang B et al.
Frontiers in Pediatrics, 2020
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.
Carli D et al.
Human Mutation, 2019
Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype.
Kortüm F et al.
Pediatrics, 2017
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.
Staufner C et al.
Journal of Inherited Metabolic Disease, 2016
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
Haack TB et al.
American Journal of Human Genetics, 2015