A5050754441- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genomics and Chromatin Dynamics
- Genetics and Neurodevelopmental Disorders
- Epigenetics and DNA Methylation
- Genomics and Phylogenetic Studies
- Pluripotent Stem Cells Research
- Genetic Syndromes and Imprinting
- CRISPR and Genetic Engineering
- Prenatal Screening and Diagnostics
- Emergency and Acute Care Studies
- Olfactory and Sensory Function Studies
- Polymer Surface Interaction Studies
- Cardiovascular and Diving-Related Complications
- Cancer-related gene regulation
- RNA modifications and cancer
- Advanced Sensor and Energy Harvesting Materials
- Genetic Associations and Epidemiology
- Neuroscience and Neural Engineering
- Viral gastroenteritis research and epidemiology
- Cancer Genomics and Diagnostics
- Birth, Development, and Health
- Genetic Neurodegenerative Diseases
- Fluid Dynamics and Turbulent Flows
- Interpreting and Communication in Healthcare
Children's Hospital of Philadelphia
2018-2023
University of Oxford
2023
University of Pennsylvania
2018-2022
Stanford University
2017-2022
University of Chicago
2008-2021
St Vincent's Hospital
2020
Iowa State University
2019
Stanford Medicine
2019
Coventry University
2018
McMaster University Medical Centre
2017
Individualization of cancer management requires prognostic markers and therapy-predictive markers. Prognostic assess risk disease progression independent therapy, whereas identify patients whose is sensitive or resistant to treatment. We show that an experimentally derived IFN-related DNA damage resistance signature (IRDS) associated with chemotherapy and/or radiation across different cell lines. The IRDS genes STAT1, ISG15, IFIT1 all mediate experimental resistance. Clinical analyses reveal...
Abstract Self-organizing neural organoids represent a promising in vitro platform with which to model human development and disease 1–5 . However, lack the connectivity that exists vivo, limits maturation makes integration other circuits control behaviour impossible. Here we show stem cell-derived cortical transplanted into somatosensory cortex of newborn athymic rats develop mature cell types integrate sensory motivation-related circuits. MRI reveals post-transplantation organoid growth...
Biofouling on the surface of implanted medical devices and biosensors severely hinders device functionality drastically shortens lifetime. Poly(ethylene glycol) zwitterionic polymers are currently considered "gold-standard" coatings to reduce biofouling. To discover novel anti-biofouling materials, a combinatorial library polyacrylamide-based copolymer hydrogels is created, their ability screened prevent fouling from serum platelet-rich plasma in high-throughput parallel assay. It found that...
Clinical exome sequencing (CES) has a reported diagnostic yield of 20% to 30% for most clinical indications. The ongoing discovery novel gene-disease and variant-disease associations are expected increase the CES. Performing systematic reanalysis previously nondiagnostic CES samples represents significant challenge laboratories. Here, we present results automated methodology applied 300 initially analyzed between June 2014 September 2016. Application our reduced variant analysis burden by...
Rhinovirus (RV) is the most prevalent human respiratory virus and responsible for at least half of all common colds. RV infections may result in a broad spectrum effects that range from asymptomatic to severe lower illnesses. The basis inter-individual variation response infection not well understood. In this study, we explored whether host genetic associated with gene expression between individuals. To do so, obtained genome-wide genotype data uninfected RV-infected peripheral blood...
The inherited peripheral neuropathies (IPNs) are characterized by marked clinical and genetic heterogeneity include relatively frequent presentations such as Charcot-Marie-Tooth disease hereditary motor neuropathy, well more rare conditions where neuropathy is associated with additional features. There over 250 genes known to cause IPN-related disorders but it estimated that in approximately 50% of affected individuals a molecular diagnosis not achieved. In this study, we examine the...
Deciphering the impact of genetic variation on gene regulation is fundamental to understanding common, complex human diseases. Although histone modifications are important markers regulatory elements genome, any specific modification has not been assayed in more than a few individuals liver. As result, effects states liver poorly understood. Here, we generate most comprehensive genome-wide dataset two epigenetic marks, H3K4me3 and H3K27ac, annotate thousands putative We integrate these...
Abstract Context Persistent hypoglycemia in the newborn period most commonly occurs as a result of hyperinsulinism. The phenotype hypoketotic can also from pituitary hormone deficiencies, including growth and adrenocorticotropic deficiency. Forkhead box A2 (Foxa2) is transcription factor shown mouse models to influence insulin secretion by pancreatic β cells. In addition, Foxa2 involved regulation development, deletions FOXA2 have been linked panhypopituitarism. Objective To describe an...
Background Beckwith-Wiedemann Syndrome (BWS) is characterised by overgrowth and tumour predisposition. While multiple epigenetic genetic mechanisms cause BWS, the majority are caused methylation defects in imprinting control regions on chromosome 11p15.5. Disease-causing often mosaic within affected individuals. Phenotypic variability among individuals with 11p15.5 tissue mosaicism led to definition of Spectrum (BWSp). Molecular diagnosis BWSp requires use sensitive diagnostic techniques...
Abstract Xia‐Gibbs syndrome (XGS) is a recently described neurodevelopmental disorder due to heterozygous loss‐of‐function AHDC1 mutations. XGS characterized by global developmental delay, intellectual disability, hypotonia, and sleep abnormalities. Here we report the clinical phenotype of five six individuals with identified prospectively at Children's Hospital Philadelphia, tertiary children's hospital in USA. Although all patients demonstrated common features delay characteristic facial...
Abstract Validation of Reynolds-averaged Navier–Stokes (RANS) simulation results against experimental data such as flow measurements from particle image velocimetry (PIV) remains a challenge for the development thermal propulsion systems. This is partly due to cycle-to-cycle variations (CCVs) in air motion and uncertainties PIV measurement technique, complicating question what constitutes fair validation target RANS model. Indeed, an inappropriate can misguide subsequent adjustments In this...
The daily monitoring of ageing population is a current issue which can be effectively tackled by applying activity via smart sensing technology. purpose the mostly aimed at collecting health conditional related awareness and emergency events detection. This pilot study that uses low pixel resolution infrared sensors for nonintrusive human detection recognition without body attachments taking individual image. In this work, we design implement multiple IR system serial experiment to verify...
Both diffusible factors acting in trans and chromatin components cis are implicated gene regulation, but the extent to which either process causally determines a cell's transcriptional identity is unclear. We recently used cell fusion define class of silent genes termed “ -silenced” (or “occluded”) genes, remain even presence -acting activators. further showed that occlusion lineage-inappropriate plays critical role maintaining identities somatic cells. Here, we present, for first time,...
Abstract Objective The aim of the present study was to describe epidemiology and clinical features patients presenting ED with suspected confirmed COVID‐19 during Australia's ‘second wave’. Methods (COVED) Project is an ongoing prospective cohort in Australian EDs. This analysis presents data from 12 sites across four states for period 1 July 31 August 2020. All adult who met criteria ‘suspected COVID‐19’ underwent testing SARS‐CoV‐2 were eligible inclusion. Study outcomes included a...
The objective of this study was to describe molecular findings and phenotypic features among individuals referred for prenatal Beckwith-Wiedemann syndrome (BWS) testing.Molecular diagnostic testing performed using a sensitive quantitative real-time PCR-based assay capable detecting mosaic methylation the level 3% at IC1 IC2. Sanger sequencing CDKN1C in cases with normal methylation.Of 94 patients tested, diagnosis identified 25.5% cases; 70.9% diagnosed had loss IC2, 4.2% gain IC1, 12.5%...