Jacksonville, FL

Research Output 1976 2020

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2019
2 Citations (Scopus)

eIF4B and eIF4H mediate GR production from expanded G4C2 in a Drosophila model for C9orf72-associated ALS

Goodman, L. D., Prudencio, M., Srinivasan, A. R., Rifai, O. M., Lee, V. M. Y., Petrucelli, L. & Bonini, N. M., Apr 25 2019, In : Acta Neuropathologica Communications. 7, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
Drosophila
Dipeptides
Poisons
Down-Regulation
Reading Frames
3 Citations (Scopus)

Elevated intracellular trypsin exacerbates acute pancreatitis and chronic pancreatitis in mice

Zhan, X., Wan, J., Zhang, G., Song, L., Gui, F., Zhang, Y., Li, Y., Guo, J., Dawra, R. K., Saluja, A. K., Haddock, A. N., Zhang, L., Bi, Y. & Ji, B. D., Jun 1 2019, In : American journal of physiology. Gastrointestinal and liver physiology. 316, 6, p. G816-G825

Research output: Contribution to journalArticle

Chronic Pancreatitis
Pancreatitis
Trypsin
Trypsinogen
Transgenic Mice
2 Citations (Scopus)

Elevated Sera sST 2 Is Associated With Heart Failure in Men ≤50 Years Old With Myocarditis

Coronado, M. J., Bruno, K. A., Blauwet, L. A., Tschöpe, C., Cunningham, M. W., Pankuweit, S., van Linthout, S., Jeon, E. S., McNamara, D. M., Krejčí, J., Bienertová-Vašků, J., Douglass, E. J., Abston, E. D., Bucek, A., Frisancho, J. A., Greenaway, M. S., Hill, A. R., Schultheiss, H. P., Cooper, L. T. J. & Fairweather, D., Jan 22 2019, In : Journal of the American Heart Association. 8, 2, p. e008968

Research output: Contribution to journalArticle

Myocarditis
Heart Failure
Serum
Sex Characteristics
Testosterone
5 Citations (Scopus)

Emerging cerebrospinal fluid biomarkers in autosomal dominant Alzheimer's disease

Dominantly Inherited Alzheimer Network, Jan 1 2019, In : Alzheimer's and Dementia.

Research output: Contribution to journalArticle

Neurocalcin
Synaptosomal-Associated Protein 25
Cerebrospinal Fluid
Alzheimer Disease
Biomarkers
1 Citation (Scopus)

Endocrine and Visual Outcomes Following Gross Total Resection and Subtotal Resection of Adult Craniopharyngioma: Systematic Review and Meta-Analysis

Akinduro, O. O., Izzo, A., Lu, V. M., Ricciardi, L., Trifiletti, D., Peterson, J. L., Bernet, V., Donaldson, A., Eggenberger, E., Olomu, O., Reimer, R., Wharen, R., Quinones-Hinojosa, A. & Chaichana, K. L., Jan 1 2019, In : World neurosurgery.

Research output: Contribution to journalArticle

Craniopharyngioma
Meta-Analysis
Odds Ratio
Diabetes Insipidus
Confidence Intervals
1 Citation (Scopus)

Endoscope-assisted contralateral transmaxillary approach to the clivus and the hypoglossal canal: Technical case report

Pamias-Portalatin, E., Mahato, D., Rincon-Torroella, J., Vivas-Buitrago, T., Quinones-Hinojosa, A. & Boahene, K. O., May 1 2019, In : Journal of neurosurgery. 130, 5, p. 1609-1615 7 p.

Research output: Contribution to journalArticle

Posterior Cranial Fossa
Endoscopes
Internal Carotid Artery
Abducens Nerve Diseases
Nasal Septum
1 Citation (Scopus)

Endoscopic identification of endoluminal esophageal landmarks for radial and longitudinal orientation and lesion location

Emura, F., Gomez-Esquivel, R., Rodriguez-Reyes, C., Benias, P., Preciado, J., Wallace, M. B. & Giraldo-Cadavid, L., Jan 28 2019, In : World journal of gastroenterology. 25, 4, p. 498-508 11 p.

Research output: Contribution to journalArticle

Bronchi
Heart Atria
Incisor
Light
Insufflation

Engineered nanoparticles for systemic siRNA delivery to malignant brain tumours

Karlsson, J., Rui, Y., Kozielski, K. L., Placone, A. L., Choi, O., Tzeng, S. Y., Kim, J., Keyes, J. J., Bogorad, M. I., Gabrielson, K., Guerrero-Cazares, H., Quinõnes-Hinojosa, A., Searson, P. C. & Green, J. J., Nov 14 2019, In : Nanoscale. 11, 42, p. 20045-20057 13 p.

Research output: Contribution to journalArticle

Small Interfering RNA
Tumors
Brain
Nanoparticles
Medical nanotechnology

Enhanced and controlled chromatin extraction from FFPE tissues and the application to ChIP-seq

Zhong, J., Ye, Z., Clark, C. R., Lenz, S. W., Nguyen, J. H., Yan, H. D., Robertson, K. D., Farrugia, G., Zhang, Z., Ordog, T. & Lee, J. H., Mar 29 2019, In : BMC genomics. 20, 1, 249.

Research output: Contribution to journalArticle

Paraffin
Formaldehyde
Chromatin
Epigenomics
Temperature

Enhanced phosphorylation of T153 in soluble tau is a defining biochemical feature of the A152T tau risk variant

Carlomagno, Y., Chung, D. E. C., Yue, M., Kurti, A., Avendano, N. M., Castanedes-Casey, M., Hinkle, K. M., Jansen-West, K., Daughrity, L. M., Tong, J., Phillips, V., Rademakers, R. V., Deture, M., Fryer, J. D., Dickson, D. W., Petrucelli, L. & Cook, C., Jan 23 2019, In : Acta neuropathologica communications. 7, 1, 1 p.

Research output: Contribution to journalArticle

Dependovirus
Phosphorylation
Tauopathies
Brain
Progressive Supranuclear Palsy

Enhancing the Informed Consent Process Using Shared Decision Making and Consent Refusal Data from the CLEAR III Trial

Porter, A. L., Ebot, J., Lane, K., Mooney, L. H., Lannen, A. M., Richie, E. M., Dlugash, R., Mayo, S., Brott, T. G., Ziai, W., Freeman, W. D. & Hanley, D. F., Jan 1 2019, (Accepted/In press) In : Neurocritical care.

Research output: Contribution to journalArticle

Informed Consent
Decision Making
Hemorrhage
National Institutes of Health (U.S.)
Practice Guidelines

Epidemiologic risk factors for in situ and invasive ductal breast cancer among regularly screened postmenopausal women by grade in the Cancer Prevention Study-II Nutrition Cohort

Puvanesarajah, S., Gapstur, S. M., Gansler, T., Sherman, M. E., Patel, A. V. & Gaudet, M. M., Jan 1 2019, (Accepted/In press) In : Cancer Causes and Control.

Research output: Contribution to journalArticle

Epidemiologic Factors
Carcinoma, Intraductal, Noninfiltrating
Breast Neoplasms
Neoplasms
Confidence Intervals
1 Citation (Scopus)

Equivalent Outcomes With Retransplantation and Primary Liver Transplantation in the Direct-acting Antiviral Era

Croome, K. P., Mathur, A., Pungpapong, S., Lee, D. D., Moss, A. A., Rosen, C. B., Heimbach, J. K. & Taner, C. B., Jun 1 2019, In : Transplantation. 103, 6, p. 1168-1174 7 p.

Research output: Contribution to journalArticle

Liver Transplantation
Antiviral Agents
Graft Survival
Liver
Transplants

Ethanol ablation of neck metastases from differentiated thyroid carcinoma

Paz-Fumagalli, R., Li, X. & Smallridge, R. C., Jan 1 2019, In : Seminars in Interventional Radiology. 36, 5, p. 381-385 5 p.

Research output: Contribution to journalArticle

Thyroid Neoplasms
Ethanol
Neck
Neoplasm Metastasis
Hot Temperature
3 Citations (Scopus)

Ethnoracial differences in Alzheimer's disease from the FLorida Autopsied Multi-Ethnic (FLAME)cohort

Santos, O. A., Pedraza, O. D., Lucas, J. A., Duara, R., Greig-Custo, M. T., Hanna Al-Shaikh, F. S., Liesinger, A. M., Bieniek, K. F., Hinkle, K. M., Lesser, E. R., Crook, J., Carrasquillo, M. M., Ross, O. A., Taner, N., Graff Radford, N. R., Dickson, D. W. & Murray, M. E., May 1 2019, In : Alzheimer's and Dementia. 15, 5, p. 635-643 9 p.

Research output: Contribution to journalArticle

Open Access
Hispanic Americans
Alzheimer Disease
Sclerosis
Age of Onset
Lewy Body Disease

EUS-guided placement of coils and glue for the management of large bleeding fundic varices

Patel, S., Wallace, M. B. & Gómez, V., Jan 1 2019, In : VideoGIE. 4, 1, p. 17-19 3 p.

Research output: Contribution to journalArticle

Open Access
Varicose Veins
Adhesives
Hemorrhage

Evaluation of Associations of Alzheimer's Disease Risk Variants that Are Highly Expressed in Microglia with Neuropathological Outcome Measures

Sakae, N., Heckman, M. G., Vargas, E. R., Carrasquillo, M. M., Murray, M. E., Kasanuki, K., Ertekin-Taner, N., Younkin, S. G. & Dickson, D. W., Jan 1 2019, In : Journal of Alzheimer's Disease. 70, 3, p. 659-666 8 p.

Research output: Contribution to journalArticle

Microglia
Alzheimer Disease
Outcome Assessment (Health Care)
Cerebral Amyloid Angiopathy
Disease Susceptibility

Evaluation of the in vivo genotoxicity of liposomal formulation for delivering anticancer estrogenic derivative (ESC8) in a mouse model

Ahmad, A., Jan, B. L., Raish, M., Rachamalla, H. K. R., Banerjee, R., Mukhopadhyay, D. & Alkharfy, K. M., Jan 1 2019, In : Saudi Pharmaceutical Journal.

Research output: Contribution to journalArticle

Open Access
Pharmaceutical Preparations
Micronucleus Tests
Drug Compounding
Comet Assay
Glucocorticoid Receptors

Evolving Role of Liver Transplantation in Elderly Recipients

Mousa, O. Y., Nguyen, J. H., Ma, Y., Rawal, B., Musto, K. R., Dougherty, M. K., Shalev, J. A. & Harnois, D., Jan 1 2019, In : Liver Transplantation. 25, 9, p. 1363-1374 12 p.

Research output: Contribution to journalArticle

Liver Transplantation
Survival
Warm Ischemia
End Stage Liver Disease
Population
Dementia
Lewy Body Disease
Alzheimer Disease
Frontotemporal Dementia
13 Citations (Scopus)

exRNA Atlas Analysis Reveals Distinct Extracellular RNA Cargo Types and Their Carriers Present across Human Biofluids

Murillo, O. D., Thistlethwaite, W., Rozowsky, J., Subramanian, S. L., Lucero, R., Shah, N., Jackson, A. R., Srinivasan, S., Chung, A., Laurent, C. D., Kitchen, R. R., Galeev, T., Warrell, J., Diao, J. A., Welsh, J. A., Hanspers, K., Riutta, A., Burgstaller-Muehlbacher, S., Shah, R. V., Yeri, A. & 38 others, Jenkins, L. M., Ahsen, M. E., Cordon-Cardo, C., Dogra, N., Gifford, S. M., Smith, J. T., Stolovitzky, G., Tewari, A. K., Wunsch, B. H., Yadav, K. K., Danielson, K. M., Filant, J., Moeller, C., Nejad, P., Paul, A., Simonson, B., Wong, D. K., Zhang, X., Balaj, L., Gandhi, R., Sood, A. K., Alexander, R. P., Wang, L., Wu, C., Wong, D. T. W., Galas, D. J., Van Keuren-Jensen, K., Patel, T. C., Jones, J. C., Das, S., Cheung, K. H., Pico, A. R., Su, A. I., Raffai, R. L., Laurent, L. C., Roth, M. E., Gerstein, M. B. & Milosavljevic, A., Apr 4 2019, In : Cell. 177, 2, p. 463-477.e15

Research output: Contribution to journalArticle

Atlases
RNA
Deconvolution
Saliva
Urine

Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers

Dickson, D. W., Baker, M. C., Jackson, J. L., Dejesus-Hernandez, M., Finch, N. C. A., Tian, S., Heckman, M. G., Pottier, C., Gendron, T. F., Murray, M. E., Ren, Y., Reddy, J. S., Graff-Radford, N. R., Boeve, B. F., Petersen, R. C., Knopman, D. S., Josephs, K. A., Petrucelli, L., Oskarsson, B., Sheppard, J. W. & 3 others, Asmann, Y. W., Rademakers, R. & Van Blitterswijk, M., Oct 8 2019, In : Acta Neuropathologica Communications. 7, 1, 150.

Research output: Contribution to journalArticle

Open Access
Frontotemporal Lobar Degeneration
Motor Neuron Disease
Monomeric GTP-Binding Proteins
Dipeptides
GTP Phosphohydrolase Activators

Extracellular vesicle-based drug delivery systems for cancer treatment

Walker, S., Busatto, S., Pham, A., Tian, M., Suh, A., Carson, K., Quintero, A., Lafrence, M., Malik, H., Santana, M. X. & Wolfram, J., Jan 1 2019, In : Theranostics. 9, 26, p. 8001-8017 17 p.

Research output: Contribution to journalArticle

Open Access
Drug Delivery Systems
Neoplasms
Physiological Phenomena
Therapeutics
Tropism

Eyelid Melanoma in the United States: A National Cancer Database Analysis

Oliver, J. D., Boczar, D., Sisti, A., Huayllani, M. T., Restrepo, D. J., Spaulding, A. C., Gabriel, E., Bagaria, S., Rinker, B. D. & Forte, A. J., Nov 1 2019, In : The Journal of craniofacial surgery. 30, 8, p. 2412-2415 4 p.

Research output: Contribution to journalArticle

Eyelids
Melanoma
Databases
Neoplasms
Neck

Factors associated with antidepressant use among low-income racially and ethnically diverse patients with type 2 diabetes

Presley, C. A., White, R. O., Bian, A., Schildcrout, J. S. & Rothman, R. L., Oct 1 2019, In : Journal of Diabetes and its Complications. 33, 10, 107405.

Research output: Contribution to journalArticle

Type 2 Diabetes Mellitus
Antidepressive Agents
Depression
Hispanic Americans
Health Literacy

Factors Associated With Minimally Invasive Surgery for Colorectal Cancer in Emergency Settings

Osagiede, O., Spaulding, A., Cochuyt, J. J., Naessens, J. M., Merchea, A., Crandall, M. & Colibaseanu, D. T., Nov 1 2019, In : Journal of Surgical Research. 243, p. 75-82 8 p.

Research output: Contribution to journalArticle

Minimally Invasive Surgical Procedures
Colorectal Neoplasms
Emergencies
Medicaid
Insurance
1 Citation (Scopus)

Factors influencing credentialing of interventionists in the CREST-2 trial

CREST-2 Investigators, Jan 1 2019, (Accepted/In press) In : Journal of vascular surgery.

Research output: Contribution to journalArticle

Credentialing
Carotid Arteries
Stroke
Carotid Stenosis
Advisory Committees
1 Citation (Scopus)

Factors influencing medical student self-competence to provide weight management services

Doshi, R. S., Gudzune, K. A., Dyrbye, L. L., Dovidio, J. F., Burke, S. E., White, R. O., Perry, S., Yeazel, M., van Ryn, M. & Phelan, S. M., Feb 1 2019, In : Clinical obesity. 9, 1, p. e12288

Research output: Contribution to journalArticle

Medical Students
Mental Competency
Obesity
Weights and Measures
Students

Factors that influence chemotherapy treatment rate in patients with upper limb osteosarcoma

Restrepo, D. J., Huayllani, M. T., Boczar, D., Sisti, A., Spaulding, A. C., Moran, S. L., Aung, T., Bagaria, S., Manrique, O. J. & Forte, A. J., Jan 1 2019, In : Anticancer Research. 39, 10, p. 5611-5615 5 p.

Research output: Contribution to journalArticle

Osteosarcoma
Upper Extremity
Drug Therapy
Bone Neoplasms
Therapeutics
3 Citations (Scopus)

Feasibility, safety, and changes in systolic blood pressure associated with endovascular revascularization of symptomatic and chronically occluded cervical internal carotid artery using a newly suggested radiographic classification of chronically occluded cervical internal carotid artery: Pilot study

Hasan, D., Zanaty, M., Starke, R. M., Atallah, E., Chalouhi, N., Jabbour, P., Singla, A., Guerrero, W. R., Nakagawa, D., Samaniego, E. A., Mbabuike, N., Tawk, R. G., Siddiqui, A. H., Levy, E. I., Novakovic, R. L., White, J., Schirmer, C. M., Brott, T. G., Shallwani, H. & Nelson Hopkins, L., May 1 2019, In : Journal of neurosurgery. 130, 5, p. 1468-1477 10 p.

Research output: Contribution to journalArticle

Internal Carotid Artery
Blood Pressure
Safety
Endovascular Procedures
Digital Subtraction Angiography
1 Citation (Scopus)

Feasibility and clinical value of circulating tumor DNA testing in patients with gastric adenocarcinomas

Iqbal, M., Roberts, A., Starr, J., Mody, K. & Kasi, P. M., Jan 1 2019, In : Journal of Gastrointestinal Oncology. 10, 3, p. 400-406 7 p.

Research output: Contribution to journalArticle

Stomach
Adenocarcinoma
DNA
Stomach Neoplasms
Neoplasms

Feasibility of circulating tumor DNA testing in hepatocellular carcinoma

Mody, K., Kasi, P. M., Yang, J. D., Surapaneni, P. K., Ritter, A., Roberts, A., Nagy, R. & Borad, M. J., Jan 1 2019, In : Journal of Gastrointestinal Oncology. 10, 4, p. 745-750 6 p.

Research output: Contribution to journalArticle

Hepatocellular Carcinoma
DNA
Neoplasms
Biliary Tract Neoplasms
Genes

Feasibility Study of Three-Phase Implementation of International Consortium for Health Outcomes Measurement Depression and Anxiety Standard Set in an Outpatient Consultation-Liaison Psychiatry Practice

Niazi, S. K., Spaulding, A., Vargas, E., Chauhan, M., Nordan, L., Vizzini, M., Puspitasari, A. J., Uitti, R. J. & Rummans, T., Jan 1 2019, (Accepted/In press) In : Psychosomatics.

Research output: Contribution to journalArticle

Feasibility Studies
Psychiatry
Outpatients
Referral and Consultation
Anxiety

Finding the “Sweet Spot” for C2 Root Transection in C1 Lateral Mass Exposure

Clifton, W., Edwards, S., Dove, C., Damon, A., Simon, L., Rosenbush, K., Nottmeier, E., Quinones-Hinojosa, A. & Pichelmann, M., Jan 1 2019, In : World neurosurgery.

Research output: Contribution to journalArticle

Arachnoid
Subarachnoid Space
Paresthesia
Arthrodesis
Spinal Ganglia

Folate receptor-targeted albumin nanoparticles based on microfluidic technology to deliver cabazitaxel

Meng, F., Sun, Y., Lee, R. J., Wang, G., Zheng, X., Zhang, H., Fu, Y., Yan, G., Wang, Y., Deng, W., Parks, E., Kim, B. Y. S., Yang, Z., Jiang, W. & Teng, L., Oct 2019, In : Cancers. 11, 10, 1571.

Research output: Contribution to journalArticle

Open Access
Albumin Receptors
Microfluidics
Folic Acid
Nanoparticles
Technology
1 Citation (Scopus)

Frontal lobe 1H MR spectroscopy in asymptomatic and symptomatic MAPT mutation carriers

Chen, Q., Boeve, B. F., Tosakulwong, N., Lesnick, T., Brushaber, D., Dheel, C., Fields, J. A., Forsberg, L., Gavrilova, R. M., Gearhart, D., Haley, D., Gunter, J. L., Graff-Radford, J., Jones, D. T., Knopman, D. S., Graff Radford, N. R., Kraft, R., Lapid, M. I., Rademakers, R. V., Syrjanen, J. & 4 others, Wszolek, Z. K., Rosen, H., Boxer, A. L. & Kantarci, K. M., Jan 1 2019, In : Neurology. 93, 8, p. E758-E765

Research output: Contribution to journalArticle

Microtubule-Associated Proteins
Frontal Lobe
Magnetic Resonance Spectroscopy
Creatine
Inositol

FTLD-TDP With and Without GRN Mutations Cause Different Patterns of CA1 Pathology

Mao, Q., Zheng, X., Gefen, T., Rogalski, E., Spencer, C. L., Rademakers, R. V., Fought, A. J., Kohler, M., Weintraub, S., Xia, H., Mesulam, M. M. & Bigio, E. H., Sep 1 2019, In : Journal of neuropathology and experimental neurology. 78, 9, p. 844-853 10 p.

Research output: Contribution to journalArticle

Frontotemporal Dementia
Pathology
Haploinsufficiency
Mutation
Frontotemporal Lobar Degeneration

Functional ability is associated with higher adherence to behavioral interventions in mild cognitive impairment

Sr, P. A. A., DeFeis, B., De Wit, L., O’Shea, D., Mejia, A., Chandler, M., Locke, D. E. C., Fields, J., Phatak, V., Dean, P. M., Crook, J. & Smith, G., Jan 1 2019, (Accepted/In press) In : Clinical Neuropsychologist.

Research output: Contribution to journalArticle

Open Access
Aptitude
Depression
Yoga
Education
Training Support
1 Citation (Scopus)

Functionalized liposomal nanoparticles for efficient gene delivery system to neuronal cell transfection

dos Santos Rodrigues, B., Banerjee, A., Kanekiyo, T. & Singh, J., Jul 20 2019, In : International Journal of Pharmaceutics. 566, p. 717-730 14 p.

Research output: Contribution to journalArticle

Gene Transfer Techniques
Liposomes
Nanoparticles
Transfection
Endocytosis
1 Citation (Scopus)

Functional network resilience to pathology in presymptomatic genetic frontotemporal dementia

The Genetic Frontotemporal Dementia Initiative (GENFI), May 1 2019, In : Neurobiology of aging. 77, p. 169-177 9 p.

Research output: Contribution to journalArticle

Open Access
Frontotemporal Dementia
Pathology
Brain
Neurodegenerative Diseases
Cognition
1 Citation (Scopus)

GABA, γ-Aminobutyric Acid, Protects Against Severe Liver Injury

Hata, T., Rehman, F., Hori, T. & Nguyen, J. H., Apr 1 2019, In : Journal of Surgical Research. 236, p. 172-183 12 p.

Research output: Contribution to journalArticle

Aminobutyrates
gamma-Aminobutyric Acid
Acute Liver Failure
Liver
Wounds and Injuries
3 Citations (Scopus)

GALAD score for hepatocellular carcinoma detection in comparison with liver ultrasound and proposal of Galadus score

Yang, J. D., Addissie, B. D., Mara, K. C., Harmsen, W. S., Dai, J., Zhang, N., Wongjarupong, N., Ali, H. M., Ali, H. A., Hassan, F. A., Lavu, S., Cvinar, J. L., Giama, N. H., Moser, C. D., Miyabe, K., Allotey, L. K., Algeciras-Schimnich, A., Theobald, J. P., Ward, M. M., Nguyen, M. H. & 11 others, Befeler, A. S., Reddy, K. R., Schwartz, M., Harnois, D., Yamada, H., Srivastava, S., Rinaudo, J. A., Gores, G. J., Feng, Z., Marrero, J. A. & Roberts, L. R., Mar 1 2019, In : Cancer Epidemiology Biomarkers and Prevention. 28, 3, p. 531-538 8 p.

Research output: Contribution to journalArticle

Hepatocellular Carcinoma
Liver
ROC Curve
Area Under Curve
Fibrosis

Gastroparesis: A turning point in understanding and treatment

Grover, M., Farrugia, G. & Stanghellini, V., Jan 1 2019, (Accepted/In press) In : Gut.

Research output: Contribution to journalArticle

Gastroparesis
Gastric Emptying
prucalopride
aprepitant
Nausea
68 Citations (Scopus)

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Alzheimer Disease Genetics Consortium (ADGC), The European Alzheimer’s Disease Initiative (EADI), Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE), & Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES), Mar 1 2019, In : Nature Genetics. 51, 3, p. 414-430 17 p.

Research output: Contribution to journalArticle

Meta-Analysis
Immunity
Alzheimer Disease
Lipids
Serum Amyloid A Protein

Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia

International FTD-Genomics Consortium (IFGC), Dec 1 2019, In : Scientific reports. 9, 1, 10854.

Research output: Contribution to journalArticle

Open Access
Primary Progressive Aphasia
Gene Regulatory Networks
Semantics
Cell Death
RNA
9 Citations (Scopus)

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

Pottier, C., Ren, Y., Perkerson, R. B., Baker, M., Jenkins, G. D., van Blitterswijk, M., DeJesus-Hernandez, M., van Rooij, J. G. J., Murray, M. E., Christopher, E., McDonnell, S. K., Fogarty, Z., Batzler, A., Tian, S., Vicente, C. T., Matchett, B., Karydas, A. M., Hsiung, G. Y. R., Seelaar, H., Mol, M. O. & 85 others, Finger, E. C., Graff, C., Öijerstedt, L., Neumann, M., Heutink, P., Synofzik, M., Wilke, C., Prudlo, J., Rizzu, P., Simon-Sanchez, J., Edbauer, D., Roeber, S., Diehl-Schmid, J., Evers, B. M., King, A., Mesulam, M. M., Weintraub, S., Geula, C., Bieniek, K. F., Petrucelli, L., Ahern, G. L., Reiman, E. M., Woodruff, B. K., Caselli, R. J., Huey, E. D., Farlow, M. R., Grafman, J., Mead, S., Grinberg, L. T., Spina, S., Grossman, M., Irwin, D. J., Lee, E. B., Suh, E. R., Snowden, J., Mann, D., Ertekin-Taner, N., Uitti, R. J., Wszolek, Z. K., Josephs, K. A., Parisi, J. E., Knopman, D. S., Petersen, R. C., Hodges, J. R., Piguet, O., Geier, E. G., Yokoyama, J. S., Rissman, R. A., Rogaeva, E., Keith, J., Zinman, L., Tartaglia, M. C., Cairns, N. J., Cruchaga, C., Ghetti, B., Kofler, J., Lopez, O. L., Beach, T. G., Arzberger, T., Herms, J., Honig, L. S., Vonsattel, J. P., Halliday, G. M., Kwok, J. B., White, C. L., Gearing, M., Glass, J., Rollinson, S., Pickering-Brown, S., Rohrer, J. D., Trojanowski, J. Q., Van Deerlin, V., Bigio, E. H., Troakes, C., Al-Sarraj, S., Asmann, Y., Miller, B. L., Graff-Radford, N. R., Boeve, B. F., Seeley, W. W., Mackenzie, I. R. A., van Swieten, J. C., Dickson, D. W., Biernacka, J. M. & Rademakers, R., Jan 1 2019, In : Acta neuropathologica.

Research output: Contribution to journalArticle

Frontotemporal Lobar Degeneration
Frontotemporal Dementia
Genome
Genes
Mutation
2 Citations (Scopus)

Genome-wide association analysis of hippocampal volume identifies enrichment of neurogenesis-related pathways

Alzheimer’s Disease Neuroimaging Initiative (ADNI), Dec 1 2019, In : Scientific reports. 9, 1, 14498.

Research output: Contribution to journalArticle

Open Access
Genome-Wide Association Study
Neurogenesis
Genes
Parahippocampal Gyrus
Dentate Gyrus

Genome-wide association study of cerebral small vessel disease reveals established and novel loci

International Stroke Genetics Consortium, Jan 1 2019, In : Brain. 142, 10, p. 3176-3189 14 p.

Research output: Contribution to journalArticle

Cerebral Small Vessel Diseases
Genome-Wide Association Study
Cerebral Hemorrhage
Stroke
Genes

Genome-wide discovery and validation of diagnostic DNA methylation-based biomarkers for hepatocellular cancer detection in circulating cell free DNA

Hlady, R. A., Zhao, X., Pan, X., Dong Yang, J., Ahmed, F., Antwi, S. O., Giama, N. H., Patel, T., Roberts, L. R., Liu, C. & Robertson, K. D., Jan 1 2019, In : Theranostics. 9, 24, p. 7239-7250 12 p.

Research output: Contribution to journalArticle

Open Access
DNA Methylation
Liver Neoplasms
Hepatocellular Carcinoma
Biomarkers
Genome

Genomic observations of a rare/pathogenic SMAD3 variant in Loeys–Dietz syndrome 3 confirmed by protein informatics and structural investigations

Richter, J. E., Samreen, A., Vadlamudi, C., Helmi, H., Mohammad, A. N., Wierenga, K., Hines, S., Atwal, P. S. & Caulfield, T., May 1 2019, In : Medicina (Lithuania). 55, 5, 137.

Research output: Contribution to journalArticle

Open Access
Informatics
Virulence
Uvula
Marfan Syndrome
Proteins