Philadelphia University + Thomas Jefferson University

Publications

Recent Publications

Phenotypic Spectrum of Epidermolysis Bullosa: The Paradigm of Syndromic versus Non-Syndromic Skin Fragility Disorders

Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families

A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma

Model-based virtual patient analysis of human liver regeneration predicts critical perioperative factors controlling the dynamic mode of response to resection

A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis

Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population

Causality analysis and cell network modeling of spatial calcium signaling patterns in liver lobules

Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa

Research Techniques Made Simple: Genome-Wide Homozygosity/Autozygosity Mapping Is a Powerful Tool for Identifying Candidate Genes in Autosomal Recessive Genetic Diseases

Exosomal αvβ6 integrin is required for monocyte M2 polarization in prostate cancer

Effects of genetic variation in protease activated receptor 4 after an acute coronary syndrome: Analysis from the TRACER trial

Modeling the dynamics of human liver failure post liver resection

Credibility, replicability, and reproducibility in simulation for biomedicine and clinical applications in neuroscience

SPSNet: Subpopulation-sensitive network-based analysis of heterogeneous gene expression data

Therapeutic challenge with a CDK 4/6 inhibitor induces an RB-dependent SMAC-mediated apoptotic response in non–small cell lung cancer

Whole exome sequencing identifies a germline MET mutation in two siblings with hereditary wild-type RET medullary thyroid cancer

Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation

Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency

Novel influences of IL-10 on CNS inflammation revealed by integrated analyses of cytokine networks and microglial morphology

A data-driven modeling approach to identify disease-specific multi-organ networks driving physiological dysregulation