Daniel Greene
A5082420062- Genomics and Rare Diseases
- Prostate Cancer Treatment and Research
- Prostate Cancer Diagnosis and Treatment
- Platelet Disorders and Treatments
- Immunodeficiency and Autoimmune Disorders
- Kidney Stones and Urolithiasis Treatments
- Pediatric Urology and Nephrology Studies
- Urologic and reproductive health conditions
- Blood disorders and treatments
- Pulmonary Hypertension Research and Treatments
- Bladder and Urothelial Cancer Treatments
- Immune Cell Function and Interaction
- Radiation Dose and Imaging
- Blood groups and transfusion
- Biomedical Text Mining and Ontologies
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Ureteral procedures and complications
- Renal Transplantation Outcomes and Treatments
- Urinary Tract Infections Management
- RNA modifications and cancer
- Organ Donation and Transplantation
- Genetic Neurodegenerative Diseases
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Bacillus and Francisella bacterial research
Stanford University
2011-2025
Deloitte (United States)
2024-2025
National Human Genome Research Institute
2025
National Institutes of Health
2025
Icahn School of Medicine at Mount Sinai
2022-2024
Gryphon Scientific (United States)
2023-2024
Child Health and Development Institute
2022-2024
University of Cambridge
2014-2023
MRC Biostatistics Unit
2014-2021
NHS Blood and Transplant
2014-2021
There are many promising psychological interventions on the horizon, but there is no clear methodology for preparing them to be scaled up. Drawing design thinking, present research formalizes a redesigning and tailoring initial interventions. We test using case of fixed versus growth mindsets during transition high school. Qualitative inquiry rapid, iterative, randomized "A/B" experiments were conducted with ~3,000 participants inform intervention revisions this population. Next, two...
IL-6 excess is central to the pathogenesis of multiple inflammatory conditions and targeted in clinical practice by immunotherapy that blocks receptor encoded IL6R. We describe two patients with homozygous mutations IL6R who presented recurrent infections, abnormal acute-phase responses, elevated IgE, eczema, eosinophilia. This study identifies a novel primary immunodeficiency, clarifying contribution phenotype IL6ST, STAT3, ZNF341, genes encoding different components signaling pathway,...
Abstract The genetic etiologies of more than half rare diseases remain unknown. Standardized genome sequencing and phenotyping large patient cohorts provide an opportunity for discovering the unknown etiologies, but this depends on efficient powerful analytical methods. We built a compact database, ‘Rareservoir’, containing variant genotypes phenotypes 77,539 participants sequenced by 100,000 Genomes Project. then used Bayesian association method BeviMed to infer associations between genes...
E527K hyperactive SRC results in megakaryocytes with increased podosome formation, thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.
Background: Pulmonary arterial hypertension (PAH) is a rare disease with an emerging genetic basis. Heterozygous mutations in the gene encoding bone morphogenetic protein receptor type 2 ( BMPR2 ) are commonest cause of PAH, whereas biallelic eukaryotic translation initiation factor alpha kinase 4 EIF2AK4 described pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis. Here, we determine frequency these and define genotype-phenotype characteristics large cohort patients...
Abstract Summary Ontologies are widely used constructs for encoding and analyzing biomedical data, but the absence of simple consistent tools has made exploratory systematic analysis such data unnecessarily difficult. Here we present three packages which aim to simplify procedures. The ontologyIndex package enables arbitrary ontologies be read into R, supports representation ontological objects by native R types, provides a parsimonius set performant functions querying ontologies....
To determine the sensitivity and specificity of ultrasonography (US) for detecting renal calculi to assess accuracy US determining size how this can affect counselling decisions.We retrospectively identified all patients at our institution with a diagnosis nephrolithiasis who underwent followed by non-contrast computed tomography (CT) within 60 days. Data on patient characteristics, stone (maximum axial diameter) location were collected. The sensitivity, was determined using CT as standard.A...
Rare genetic disorders, which can now be studied systematically with affordable genome sequencing, are often caused by high-penetrance rare variants. Such disorders heterogeneous and characterized abnormalities spanning multiple organ systems ascertained variable clinical precision. Existing methods for identifying genes variants responsible diseases summarize phenotypes unstructured binary or quantitative variables. The Human Phenotype Ontology (HPO) allows composite to represented but...
Telomere length is a risk factor in disease and the dynamics of telomere are crucial to our understanding cell replication vitality. The proliferation whole genome sequencing represents an unprecedented opportunity glean new insights into biology on previously unimaginable scale. To this end, number approaches for estimating from whole-genome data have been proposed. Here we present Telomerecat, novel approach estimation length. Previous methods dependent telomeres being known, which may be...
The authors applied whole-genome sequencing (WGS) in 9,802 patients with a rare disease national health system to streamline diagnosis and discover unknown aetiological variants the coding non-coding regions of genome. WGS identified genetic 1138/7065 extensively phenotyped participants. They 95 genes which mutations were very likely be cause Mendelian disease.
Phenopolis is an open-source web server providing intuitive interface to genetic and phenotypic databases. It integrates analysis tools such as variant filtering gene prioritization based on phenotype. The platform will accelerate clinical diagnosis, discovery encourage wider adoption of the Human Phenotype Ontology in study rare diseases.A demo website available at https://phenopolis.github.io . If you wish install a local copy, source code installation instruction are...
No AccessJournal of UrologyAdult Urology1 Sep 2017Intermediate-Term Outcomes for Men with Very Low/Low and Intermediate/High Risk Prostate Cancer Managed by Active Surveillance Yaw A. Nyame, Nima Almassi, Samuel C. Haywood, Daniel J. Greene, Vishnu Ganesan, Charles Dai, Joseph Zabell, Chad Reichard, Hans Arora, Anna Zampini, Alice Crane, Hettel, Ahmed Elshafei, Khaled Fareed, Robert Stein, Ryan K. Berglund, Michael Gong, Stephen Jones, Eric Klein, Andrew Stephenson NyameYaw Nyame ,...