Publications

Evolution of structural rearrangements in prostate cancer intracranial metastases

Intracranial metastases in prostate cancer are uncommon but clinically aggressive. A detailed molecular characterization of prostate cancer intracranial metastases would improve our understanding of their pathogenesis and the search for new treatment strategies. We evaluated the clinical and molecular characteristics...

Authors:  Nicolas Robine   Will Hooper   Tim Chu  

Molecular and Clinical Epidemiology of SARS-CoV-2 Infection among Vaccinated and Unvaccinated Individuals in a Large Healthcare Organization from New Jersey

New Jersey was among the first states impacted by the COVID-19 pandemic, with one of the highest overall death rates in the nation. Nevertheless, relatively few reports have been published focusing specifically on New Jersey. Here we report on molecular,...

Authors:  Michael Zody   Andre Corvelo  

Polyclonal lymphoid expansion drives paraneoplastic autoimmunity in neuroblastoma

Neuroblastoma is a lethal childhood solid tumor of developing peripheral nerves. Two percent of children with neuroblastoma develop opsoclonus myoclonus ataxia syndrome (OMAS), a paraneoplastic disease characterized by cerebellar and brainstem-directed autoimmunity but typically with outstanding cancer-related outcomes. We compared...

Authors:  Zalman Vaksman  

DETECT: Feature extraction method for disease trajectory modeling in electronic health records

Modeling with longitudinal electronic health record (EHR) data proves challenging given the high dimensionality, redundancy, and noise captured in EHR. In order to improve precision medicine strategies and identify predictors of disease risk in advance, evaluating meaningful patient disease trajectories...

Authors:  Marta Byrska-Bishop  

Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population

CAG repeat expansions in exon 1 of the AR gene on the X chromosome cause spinal and bulbar muscular atrophy, a male-specific progressive neuromuscular disorder associated with a variety of extra-neurological symptoms. The disease has a reported male prevalence of...

Authors:  Giuseppe Narzisi  

Genetic Predisposition to Neurological Complications in Patients with COVID-19

Several studies have identified rare and common genetic variants associated with severe COVID-19, but no study has reported genetic determinants as predisposition factors for neurological complications. In this report, we identified rare/unique structural variants (SVs) implicated in neurological functions in...

Authors:  Michael Zody  

Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes

Amyotrophic lateral sclerosis (ALS) is a progressively fatal neurodegenerative disease affecting motor neurons in the brain and spinal cord. In this study, we investigated gene expression changes in ALS via RNA sequencing in 380 postmortem samples from cervical, thoracic and...

Authors:  Giuseppe Narzisi   Marta Byrska-Bishop   Uday Evani  

Discovering comorbid diseases using an inter-disease interactivity network based on biobank-scale PheWAS data

Motivation: Understanding comorbidity is essential for disease prevention, treatment and prognosis. In particular, insight into which pairs of diseases are likely or unlikely to co-occur may help elucidate the potential relationships between complex diseases. Here, we introduce the use of...

Authors:  Marta Byrska-Bishop  

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