Data-driven decision-making for precision diagnosis of digestive diseases

S Jiang, T Wang, KH Zhang - BioMedical Engineering Online, 2023 - Springer
Modern omics technologies can generate massive amounts of biomedical data, providing
unprecedented opportunities for individualized precision medicine. However, traditional …

A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus

AK Singh, G Allington, S Viviano, S McGee, E Kiziltug… - Brain, 2024 - academic.oup.com
Hydrocephalus, characterized by cerebral ventriculomegaly, is the most common disorder
requiring brain surgery in children. Recent studies have implicated SMARCC1, a component …

Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis

HM Qureshi, KY Mekbib, G Allington… - Cerebral …, 2023 - academic.oup.com
Arachnoid cysts (ACs) are the most common space-occupying lesions in the human brain
and present significant challenges for clinical management. While most cases of ACs are …

Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics

T DeSpenza Jr, A Singh, G Allington, S Zhao… - Proceedings of the …, 2024 - pnas.org
Enlargement of the cerebrospinal fluid (CSF)–filled brain ventricles (cerebral
ventriculomegaly), the cardinal feature of congenital hydrocephalus (CH), is increasingly …

Unveiling Key Biomarkers and Mechanisms in Septic Cardiomyopathy: A Comprehensive Transcriptome Analysis

D Zhao, J Zhuang, L Wang, L Wu, W Xu… - Journal of …, 2024 - Taylor & Francis
Purpose Septic cardiomyopathy (SCM) is a significant global public health concern
characterized by substantial morbidity and mortality, which has not been improved for …

Prediction of Deleterious Single Amino Acid Polymorphisms with a Consensus Holdout Sampler

Ó Álvarez-Machancoses, E Faraggi… - Current …, 2024 - ingentaconnect.com
Background: Single Amino Acid Polymorphisms (SAPs) or nonsynonymous Single
Nucleotide Variants (nsSNVs) are the most common genetic variations. They result from …

Zebrafish navigating the metabolic maze: insights into human disease–assets, challenges and future implications

C Yashaswini, NS Kiran, A Chatterjee - Journal of Diabetes & Metabolic …, 2025 - Springer
Zebrafish (Danio rerio) have become indispensable models for advancing our
understanding of multiple metabolic disorders such as obesity, diabetes mellitus …