Associated Papers
Short stature, optic atrophy, and Pelger-Huët anomaly (SOPH) syndrome: report of a case lacking neutrophil morphologic changes and review of literature.
Jung EH et al.
Ophthalmic Genetics, 2026
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A et al.
Hgg Advances, 2025
40195116 (PubMed )
Supplement: mmc1.xlsx › Multiple_molecular_diagnoses
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
40433928 (PubMed )
Supplement: LIV-45-0-s001.xlsx › Tabelle1
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Lenz D et al.
Hepatology (baltimore, Md.), 2024
37976411 (PubMed )
Supplement: hep-79-1075-s005.xlsx › Sup_Table_4
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2
Infantile fever-triggered acute liver failure caused by novel neuroblastoma amplified sequence mutations: a case report.
Li W et al.
Bmc Gastroenterology, 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
33042920 (PubMed )
Supplement: Table_1.xlsx › ____1
Autism and heritable bone fragility: A true association?
Balasubramanian M et al.
Bone Reports, 2018
Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS.
Regateiro FS et al.
European Journal of Medical Genetics, 2017
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.
Balasubramanian M et al.
Bone, 2017
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
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