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1

ROBOKOP: an abstraction layer and user interface for knowledge graphs to support question answering

Morton, Kenneth, Wang, Patrick, Bizon, Chris, Cox, Steven, Balhoff, James, Kebede, Yaphet, Fecho, Karamarie, Tropsha, Alexander, Wren, Jonathan

Journal:

Year:

2019

File:

PDF, 206 KB

2019

2

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels

Kanavy, Dona M., McNulty, Shannon M., Jairath, Meera K., Brnich, Sarah E., Bizon, Chris, Powell, Bradford C., Berg, Jonathan S.

Journal:

Genome Medicine

Year:

2019

File:

PDF, 2.44 MB

2019

3

VisualDecisionLinc: A visual analytics approach for comparative effectiveness-based clinical decision support in psychiatry

Ketan K. Mane, Chris Bizon, Charles Schmitt, Phillips Owen, Bruce Burchett, Ricardo Pietrobon, Kenneth Gersing

Journal:

Journal of Biomedical Informatics

Year:

2012

Language:

english

File:

PDF, 797 KB

english, 2012

4

A novel approach for exposing and sharing clinical data: the Translator Integrated Clinical and Environmental Exposures Service

Fecho, Karamarie, Pfaff, Emily, Xu, Hao, Champion, James, Cox, Steve, Stillwell, Lisa, Peden, David B, Bizon, Chris, Krishnamurthy, Ashok, Tropsha, Alexander, Ahalt, Stanley C

Journal:

Journal of the American Medical Informatics Association

Year:

2019

Language:

english

File:

PDF, 712 KB

english, 2019

5

Effects of Common and Rare Chromosome 4 GABAergic Gene Variation on Alcohol Use and Antisocial Behavior

Deak, Joseph D., Gizer, Ian R., Otto, Jacqueline M., Bizon, Chris, Wilhelmsen, Kirk C.

Journal:

Journal of Studies on Alcohol and Drugs

Year:

2019

Language:

english

File:

PDF, 1.91 MB

english, 2019

6

ReQON: a Bioconductor package for recalibrating quality scores from next-generation sequencing data

Christopher R Cabanski, Keary Cavin, Chris Bizon, Matthew D Wilkerson, Joel S Parker, Kirk C Wilhelmsen, Charles M Perou, JS Marron, D Neil Hayes

Journal:

BMC Bioinformatics

Year:

2012

Language:

english

File:

PDF, 337 KB

english, 2012

7

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing

Berg, Jonathan S, Evans, James P, Leigh, Margaret W, Omran, Heymut, Bizon, Chris, Mane, Ketan, Knowles, Michael R, Weck, Karen E, Zariwala, Maimoona A

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 525 KB

english, 2011

8

COVID-KOP: Integrating Emerging COVID-19 Data with the ROBOKOP Database

Korn, Daniel, Bobrowski, Tesia, Li, Michael, Kebede, Yaphet, Wang, Patrick, Owen, Phillips, Vaidya, Gaurav, Muratov, Eugene, Chirkova, Rada, Bizon, Chris, Tropsha, Alexander, Wren, Jonathan

Journal:

Year:

2020

File:

PDF, 249 KB

2020

9

Polygenic risk scores for cigarettes smoked per day do not generalize to a Native American population

Otto, Jacqueline M., Gizer, Ian R., Bizon, Chris, Wilhelmsen, Kirk C., Ehlers, Cindy L.

Journal:

Drug and Alcohol Dependence

Year:

2016

Language:

english

File:

PDF, 530 KB

english, 2016

10

Genome-wide meta-analysis identifies a novel susceptibility signal at CACNA2D3 for nicotine dependence

Yin, Xianyong, Bizon, Chris, Tilson, Jeffrey, Lin, Yuan, Gizer, Ian R., Ehlers, Cindy L., Wilhelmsen, Kirk C.

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2017

Language:

english

File:

PDF, 451 KB

english, 2017

11

Genetic loci for alcohol-related life events and substance-induced affective symptoms: indexing the “dark side” of addiction

Peng, Qian, Bizon, Chris, Gizer, Ian R., Wilhelmsen, Kirk C., Ehlers, Cindy L.

Journal:

Translational Psychiatry

Year:

2019

Language:

english

File:

PDF, 1.52 MB

english, 2019

12

Stress and the “dark side” in three different genetic epidemiological cohorts

Ehlers, Cindy L., Gilder, David A., Gizer, Ian, Peng, Qian, Bizon, Chris, Wilhelmsen, Kirk

Journal:

Year:

2017

Language:

english

File:

PDF, 61 KB

english, 2017

13

Whole genome sequence study of cannabis dependence in two independent cohorts

Gizer, Ian R., Bizon, Chris, Gilder, David A., Ehlers, Cindy L., Wilhelmsen, Kirk C.

Journal:

Addiction Biology

Year:

2017

Language:

english

File:

PDF, 534 KB

english, 2017

14

Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges

Vora, Neeta L, Powell, Bradford, Brandt, Alicia, Strande, Natasha, Hardisty, Emily, Gilmore, Kelly, Foreman, Ann Katherine M, Wilhelmsen, Kirk, Bizon, Chris, Reilly, Jason, Owen, Phil, Powell, Cynthia

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 166 KB

english, 2017

15

Effects of Common and Rare Chromosome 4 GABAergic Gene Variation on Alcohol Use and Antisocial Behavior

Deak, Joseph D., Gizer, Ian R., Otto, Jacqueline M., Bizon, Chris, Wilhelmsen, Kirk C.

Journal:

Journal of Studies on Alcohol and Drugs

Year:

2019

File:

PDF, 1.91 MB

2019

16

[ACM Press the 2nd ACM SIGHIT symposium - Miami, Florida, USA (2012.01.28-2012.01.30)] Proceedings of the 2nd ACM SIGHIT symposium on International health informatics - IHI '12 - Mapping patient treatment profiles and electronic medical records to a clinical guideline for use in patient care

Mane, Ketan K., Owen, Phillips, Bizon, Chris, Schmitt, Charles, Gersing, Kenneth

Year:

2012

Language:

english

File:

PDF, 938 KB

english, 2012

17

Variant calling in low-coverage whole genome sequencing of a Native American population sample

Bizon, Chris, Spiegel, Michael, Chasse, Scott A, Gizer, Ian R, Li, Yun, Malc, Ewa P, Mieczkowski, Piotr A, Sailsbery, Josh K, Wang, Xiaoshu, Ehlers, Cindy L, Wilhelmsen, Kirk C

Journal:

Year:

2014

Language:

english

File:

PDF, 557 KB

english, 2014

18

Genetic loci for alcohol-related life events and substance-induced affective symptoms: indexing the “dark side” of addiction

Peng, Qian, Bizon, Chris, Gizer, Ian R., Wilhelmsen, Kirk C., Ehlers, Cindy L.

Journal:

Translational Psychiatry

Year:

2019

File:

PDF, 1.52 MB

2019

19

High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting

Lee, Kristy, Berg, Jonathan S., Milko, Laura, Crooks, Kristy, Lu, Mei, Bizon, Chris, Owen, Phillips, Wilhelmsen, Kirk C., Weck, Karen E., Evans, James P., Garg, Seema

Journal:

American Journal of Ophthalmology

Year:

2015

Language:

english

File:

PDF, 800 KB

english, 2015

20

Shocks in Supersonic Sand

Rericha, Erin C., Bizon, Chris, Shattuck, Mark D., Swinney, Harry L.

Journal:

Physical Review Letters

Year:

2001

Language:

english

File:

PDF, 164 KB

english, 2001

21

ClinGen advancing genomic data-sharing standards as a GA4GH driver project

Dolman, Lena, Page, Angela, Babb, Lawrence, Freimuth, Robert R., Arachchi, Harindra, Bizon, Chris, Brush, Matthew, Fiume, Marc, Haendel, Melissa, Hansen, David P., Milosavljevic, Aleksandar, Patel, Ro

Journal:

Year:

2018

Language:

english

File:

PDF, 257 KB

english, 2018

22

ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants

Patel, Ronak Y., Shah, Neethu, Jackson, Andrew R., Ghosh, Rajarshi, Pawliczek, Piotr, Paithankar, Sameer, Baker, Aaron, Riehle, Kevin, Chen, Hailin, Milosavljevic, Sofia, Bizon, Chris, Rynearson, Shaw

Journal:

Genome Medicine

Year:

2017

Language:

english

File:

PDF, 2.01 MB

english, 2017

23

Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

Lange, Leslie A., Hu, Youna, Zhang, He, Xue, Chenyi, Schmidt, Ellen M., Tang, Zheng-Zheng, Bizon, Chris, Lange, Ethan M., Smith, Joshua D., Turner, Emily H., Jun, Goo, Kang, Hyun Min, Peloso, Gina, Au

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 720 KB

english, 2014

24

Association and ancestry analysis of sequence variants in ADH and ALDH using alcohol-related phenotypes in a Native American community sample

Peng, Qian, Gizer, Ian R., Libiger, Ondrej, Bizon, Chris, Wilhelmsen, Kirk C., Schork, Nicholas J., Ehlers, Cindy L.

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2014

Language:

english

File:

PDF, 995 KB

english, 2014

25

An informatics approach to analyzing the incidentalome

Berg, Jonathan S., Adams, Michael, Nassar, Nassib, Bizon, Chris, Lee, Kristy, Schmitt, Charles P., Wilhelmsen, Kirk C., Evans, James P.

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 549 KB

english, 2013

26

Increasing the diagnostic yield of exome sequencing by copy number variant analysis

Marchuk, Daniel S., Crooks, Kristy, Strande, Natasha, Kaiser-Rogers, Kathleen, Milko, Laura V., Brandt, Alicia, Arreola, Alexandra, Tilley, Christian R., Bizon, Chris, Vora, Neeta L., Wilhelmsen, Kirk

Journal:

Year:

2018

Language:

english

File:

PDF, 950 KB

english, 2018

27

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels

Kanavy, Dona M., McNulty, Shannon M., Jairath, Meera K., Brnich, Sarah E., Bizon, Chris, Powell, Bradford C., Berg, Jonathan S.

Journal:

Genome Medicine

Year:

2019

Language:

english

File:

PDF, 2.44 MB

english, 2019

28

Germline Mutations in HOXB13 and Prostate-Cancer Risk

Ewing, Charles M., Ray, Anna M., Lange, Ethan M., Zuhlke, Kimberly A., Robbins, Christiane M., Tembe, Waibhav D., Wiley, Kathleen E., Isaacs, Sarah D., Johng, Dorhyun, Wang, Yunfei, Bizon, Chris, Yan,

Journal:

Boston Medical and Surgical Journal

Year:

2012

Language:

english

File:

PDF, 578 KB

english, 2012

29

Patient Electronic Health Data–Driven Approach to Clinical Decision Support

Ketan K. Mane, Chris Bizon, Phillips Owen, Ken Gersing, Javed Mostafa, Charles Schmitt

Journal:

Clinical and Translational Science

Year:

2011

Language:

english

File:

PDF, 6.65 MB

english, 2011

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