A5044203270- Cancer Genomics and Diagnostics
- Pancreatic and Hepatic Oncology Research
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Esophageal Cancer Research and Treatment
- Neuroendocrine Tumor Research Advances
- Single-cell and spatial transcriptomics
- Radiomics and Machine Learning in Medical Imaging
- Pancreatitis Pathology and Treatment
- Infectious Diseases and Mycology
- Genetic factors in colorectal cancer
- Alzheimer's disease research and treatments
- Helicobacter pylori-related gastroenterology studies
- Lung Cancer Research Studies
- Hepatocellular Carcinoma Treatment and Prognosis
- Lung Cancer Treatments and Mutations
- Steroid Chemistry and Biochemistry
- Neuroinflammation and Neurodegeneration Mechanisms
- Microbial Metabolic Engineering and Bioproduction
- Fungal and yeast genetics research
- Cardiovascular Effects of Exercise
- Nuclear Receptors and Signaling
- RNA modifications and cancer
- Autophagy in Disease and Therapy
- Caveolin-1 and cellular processes
- Peptidase Inhibition and Analysis
Invitae (United States)
2021-2025
The University of Texas MD Anderson Cancer Center
2019-2023
Cancer Research Center
2019-2020
Scripps MD Anderson Cancer Center
2020
Baylor College of Medicine
2014-2018
Emory University
2007-2016
Nationwide Children's Hospital
2005
The progression of tau pathology in Alzheimer’s disease follows a stereotyped pattern, and recent evidence suggests role synaptic connections this process. Astrocytes are well positioned at the neuronal synapse to capture degrade extracellular as it transits hence could potentially have ability inhibit spreading delay progression. Our study shows increased expression activity Transcription Factor EB (TFEB), master regulator lysosomal biogenesis, response both human brains with dementia...
Our understanding of the origins new metabolic functions is based upon anecdotal genetic and biochemical evidence. Some auxotrophies can be suppressed by overexpressing substrate-ambiguous enzymes (i.e., those that catalyze same chemical transformation on different substrates). Other exhibit weak but detectable catalytic promiscuity in vitro they transformations similar Cells adapt to novel environments through evolution these secondary activities, neither their natures nor frequencies...
Heterogeneity is a hallmark of cancer. The advent single-cell technologies has helped uncover heterogeneity in high-throughput manner different cancers across varied contexts. Here we apply sequencing to reveal inherent assumptively monoclonal pancreatic cancer (PDAC) cell lines and patient-derived organoids (PDOs). Our findings high degree both genomic transcriptomic polyclonality monolayer PDAC lines, custodial variation induced by growing apparently identical laboratories, shifts...
BACKGROUND: Truncating variants (TTNtvs) in the titin ( TTN ) gene have been associated with cardiomyopathies or arrhythmias (C/A) and autosomal recessive neuromuscular diseases (NM). However, clinical significance of TTNtvs across entire coding sequence has not comprehensively assessed. The purpose this study was to examine burden C/A NM cases compared controls genome aggregation database. METHODS: This a retrospective probands who underwent multigene testing (49 740 panel, 24 514 panel)...
Abstract Purpose: Most patients with pancreatic ductal adenocarcinoma (PDAC) present surgically unresectable cancer. As a result, endoscopic ultrasound–guided fine-needle aspiration (EUS-FNA) is the most common biospecimen source available for diagnosis in treatment-naïve patients. Unfortunately, these limited samples are often not considered adequate genomic analysis, precluding opportunity enrollment on precision medicine trials. Experimental Design: Applying an epithelial cell adhesion...
Intraductal papillary mucinous neoplasms (IPMN) are cystic precursor lesions to pancreatic ductal adenocarcinoma (PDAC). IPMNs undergo multistep progression from low-grade (LG) high-grade (HG) dysplasia, culminating in invasive neoplasia. While patterns of IPMN have been analyzed using multiregion sequencing for somatic mutations, there is no integrated assessment molecular events, including copy-number alterations (CNA) and transcriptional changes that accompany progression. We performed...
Seven human disorders of postsqualene cholesterol biosynthesis have been described. One these, congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome, results from mutations in the X-linked gene NADH sterol dehydrogenase-like (NSDHL) encoding a dehydrogenase. A series mutant alleles murine Nsdhl are carried by bare patches (Bpa) mice, Bpa(1H) representing null allele. Heterozygous females display skin skeletal abnormalities distribution reflecting random X...
Abstract Intratumoral heterogeneity (ITH) is a hallmark of cancer. The advent single-cell technologies has helped uncover ITH in high-throughput manner different cancers across varied contexts. Here we apply sequencing to reveal striking assumptively oligoclonal pancreatic ductal adenocarcinoma (PDAC) cell lines. Our findings high degree both genomic and transcriptomic established globally utilized PDAC lines, custodial variation induced by growing apparently identical lines laboratories,...
Abstract Intraductal papillary mucinous neoplasms (IPMNs) are cystic precursor lesions to pancreatic ductal adenocarcinoma (PDAC). IPMNs undergo multistep progression from low grade (LG) high (HG) dysplasia, culminating in invasive neoplasia. While patterns of IPMN have been analyzed using multi-region sequencing for somatic mutations, there is no integrated assessment molecular events, including copy number alterations (CNAs) and transcriptomics changes, that accompany progression. We...
<p>It contains supplementary figures</p>
<div>AbstractPurpose:<p>Most patients with pancreatic ductal adenocarcinoma (PDAC) present surgically unresectable cancer. As a result, endoscopic ultrasound–guided fine-needle aspiration (EUS-FNA) is the most common biospecimen source available for diagnosis in treatment-naïve patients. Unfortunately, these limited samples are often not considered adequate genomic analysis, precluding opportunity enrollment on precision medicine trials.</p>Experimental...
<div>AbstractPurpose:<p>Most patients with pancreatic ductal adenocarcinoma (PDAC) present surgically unresectable cancer. As a result, endoscopic ultrasound–guided fine-needle aspiration (EUS-FNA) is the most common biospecimen source available for diagnosis in treatment-naïve patients. Unfortunately, these limited samples are often not considered adequate genomic analysis, precluding opportunity enrollment on precision medicine trials.</p>Experimental...
<p>It contains supplementary figures</p>