Klee, Eric: search on Z-Library

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1

Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures

Slavotinek, Anne, van Hagen, Johanna M., Kalsner, Louisa, Pai, Shashidhar, Davis-Keppen, Laura, Ohden, Lisa, Weber, Yvonne G., Macke, Erica L., Klee, Eric W., Morava, Eva, Gunderson, Lauren, Person, R

Journal:

European Journal of Medical Genetics

Year:

2020

Language:

english

File:

PDF, 719 KB

english, 2020

2

Impact of integrated translational research on clinical exome sequencing

Klee, Eric W., Cousin, Margot A., Pinto e Vairo, Filippo, Morales-Rosado, Joel A., Macke, Erica L., Jenkinson, W. Garrett, Ferrer, Alejandro, Schultz-Rogers, Laura E., Olson, Rory J., Oliver, Gavin R.

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 824 KB

2020

3

Circadian Regulation of the PhCCD1 Carotenoid Cleavage Dioxygenase Controls Emission of β-Ionone, a Fragrance Volatile of Petunia Flowers

Andrew J. Simkin, Beverly A. Underwood, Michele Auldridge, Holly M. Loucas, Kenichi Shibuya, Eric Schmelz, David G. Clark and Harry J. Klee

Journal:

PLANT PHYSIOLOGY

Year:

2004

Language:

english

File:

PDF, 2.15 MB

english, 2004

4

[IEEE 2018 23rd Asia and South Pacific Design Automation Conference (ASP-DAC) - Jeju, Korea (South) (2018.1.22-2018.1.25)] 2018 23rd Asia and South Pacific Design Automation Conference (ASP-DAC) - Deep Learning for Better Variant Calling for Cancer Diagnosis and Treatment

Ramachandran, Anand, Li, Huiren, Klee, Eric, Lumetta, Steven S., Chen, Deming

Year:

2018

Language:

english

File:

PDF, 272 KB

english, 2018

5

Zebrafish: a model for the study of addiction genetics

Klee, Eric W., Schneider, Henning, Clark, Karl J., Cousin, Margot A., Ebbert, Jon O., Hooten, W. Michael, Karpyak, Victor M., Warner, David O., Ekker, Stephen C.

Journal:

Year:

2012

Language:

english

File:

PDF, 603 KB

english, 2012

6

Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome

Zimmermann, Michael T., Urrutia, Raul A., Blackburn, Patrick R., Cousin, Margot A., Boczek, Nicole J., Klee, Eric W., Macmurdo, Colleen, Atwal, Paldeep S.

Journal:

Case Reports in Genetics

Year:

2017

Language:

english

File:

PDF, 1.86 MB

english, 2017

7

Antiangiogenic Effects and Therapeutic Targets of Azadirachta indica Leaf Extract in Endothelial Cells

Mahapatra, Saswati, Young, Charles Y. F., Kohli, Manish, Karnes, R. Jeffrey, Klee, Eric W., Holmes, Michael W., Tindall, Donald J., Donkena, Krishna Vanaja

Journal:

Evidence-based Complementary and Alternative Medicine

Year:

2012

Language:

english

File:

PDF, 1.47 MB

english, 2012

8

Congenital ichthyosis in PraderâWilli syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD

Muthusamy, Karthik, Macke, Erica L., Klee, Eric W., Tebben, Peter J., Hand, Jennifer L., Hasadsri, Linda, Marcou, Cherisse A., Schimmenti, Lisa A.

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 2.93 MB

2020

9

Exome sequencing confirms diagnosis of kabuki syndrome in an-adult with hodgkin lymphoma and unusually severe multisystem phenotype

Kaiwar, Charu, Kruisselbrink, Teresa M., Kudva, Yogish C., Klee, Eric W., Pichurin, Pavel

Journal:

Clinical Immunology

Year:

2018

Language:

english

File:

PDF, 709 KB

english, 2018

10

Novel NR2F1 variants likely disrupt DNA binding: Molecular modeling in two cases, Review of Published Cases, Genotype-Phenotype Correlation and Phenotypic Expansion of the Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

Kaiwar, Charu, Zimmerman, Michael T., Ferber, Matthew J., Niu, Zhiyv, Urrutia, Raul A., Klee, Eric W., Babovic-Vuksanovic, Dusica

Journal:

Molecular Case Studies

Year:

2017

Language:

english

File:

PDF, 4.79 MB

english, 2017

11

Molecular characterization of known and novel ACVR1 variants in phenotypes of aberrant ossification

Gupta, Aditi, Zimmermann, Michael T., Wang, Haitao, Broski, Stephen M., Sigafoos, Ashley N., Macklin, Sarah K., Urrutia, Raul A., Clark, Karl J., Atwal, Paldeep S., Pignolo, Robert J., Klee, Eric W.

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 4.44 MB

english, 2019

12

Hereditary hyperferritinemia-cataract syndrome in two large multigenerational American families

Julia Shekunov, Piet C. de Groen, Noralane M. Lindor, George G. Klee, Ross A. Aleff, Eric D. Wieben, Brian G. Mohney

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2011

Language:

english

File:

PDF, 319 KB

english, 2011

13

Evaluating eukaryotic secreted protein prediction

Eric W Klee, Lynda BM Ellis

Journal:

BMC Bioinformatics

Year:

2005

Language:

english

File:

PDF, 249 KB

english, 2005

14

Lung cancer adrenal gland metastasis: Optimal fine-needle aspirate and touch preparation smear cellularity characteristics for successful theranostic next-generation sequencing

Gleeson, Ferga C., Kipp, Benjamin R., Levy, Michael J., Voss, Jesse S., Campion, Michael B., Minot, Douglas M., Tu, Zheng J., Klee, Eric W., Lazaridis, Konstantinos N., Kerr, Sarah E.

Journal:

Cancer Cytopathology

Year:

2014

Language:

english

File:

PDF, 558 KB

english, 2014

15

The Zebrafish Secretome

Journal:

Year:

2008

Language:

english

File:

PDF, 401 KB

english, 2008

16

[ACM Press the 36th SIGCSE technical symposium - St. Louis, Missouri, USA (2005.02.23-2005.02.27)] Proceedings of the 36th SIGCSE technical symposium on Computer science education - SIGCSE '05 - The ACM java task force

Roberts, Eric, Yellin, Frank, Bruce, Kim, Cutler, Rob, Cross, James H., Grissom, Scott, Klee, Karl, Rodger, Susan, Trees, Fran, Utting, Ian

Year:

2005

Language:

english

File:

PDF, 81 KB

english, 2005

17

Y-90 Radioembolization Combined with a PD-1 Inhibitor for Advanced Hepatocellular Carcinoma

Wehrenberg-Klee, Eric, Goyal, Lipika, Dugan, Matthew, Zhu, Andrew X., Ganguli, Suvranu

Journal:

CardioVascular and Interventional Radiology

Year:

2018

Language:

english

File:

PDF, 885 KB

english, 2018

18

Improving Single-Nucleotide Polymorphism-Based Fetal Fraction Estimation of Maternal Plasma Circulating Cell-Free DNA Using Bayesian Hierarchical Models

Larson, Nicholas B., Wang, Chen, Na, Jie, Rowsey, Ross A., Highsmith, William Edward, Hoppman, Nicole L., Kocher, Jean-Pierre, Klee, Eric W.

Journal:

Journal of Computational Biology

Year:

2018

Language:

english

File:

PDF, 504 KB

english, 2018

19

Computational classification of classically secreted proteins

Eric W. Klee, Carlos P. Sosa

Journal:

Drug Discovery Today

Year:

2007

Language:

english

File:

PDF, 253 KB

english, 2007

20

Sa1943 Feasibility Study Evaluating Whole Exome Sequencing of Endoscopic Ultrasound Fine Needle Aspiration (EUS FNA) Cytology Specimens

Gleeson, Ferga C., Kerr, Sarah E., Kipp, Benjamin R., Klee, Eric W., Lazaridis, Konstantinos, Wieben, Eric, Levy, Michael J.

Journal:

Gastroenterology

Year:

2015

Language:

english

File:

PDF, 955 KB

english, 2015

21

The Effectiveness of Checkpoint Inhibitor Combinations and Administration Timing Can Be Measured by Granzyme B PET Imaging

Larimer, Benjamin M, Bloch, Emily G, Nesti, Sarah, Austin, Emily E, Wehrenberg-Klee, Eric, Boland, Genevieve, Mahmood, Umar

Journal:

Clinical Cancer Research

Year:

2018

Language:

english

File:

PDF, 10.89 MB

english, 2018

22

T1385 Adrenomedullin: A Biomarker of Pancreatic Cancer-Associated Diabetes?

Aggarwal, Gaurav, Klee, George, Fernandez-Zapico, Martin E., Klee, Eric W., Smyrk, Thomas C., Bamlet, William, de Andrade, Mariza, Petersen, Gloria M., Chari, Suresh T.

Journal:

Gastroenterology

Year:

2010

Language:

english

File:

PDF, 127 KB

english, 2010

23

Late onset asymptomatic pancreatic neuroendocrine tumor – A case report on the phenotypic expansion for MEN1

Kaiwar, Charu, Macklin, Sarah K., Gass, Jennifer M., Jackson, Jessica, Klee, Eric W., Hines, Stephanie L., Stauffer, John A., Atwal, Paldeep S.

Journal:

Hereditary Cancer in Clinical Practice

Year:

2017

Language:

english

File:

PDF, 1.41 MB

english, 2017

24

E-mail management of the Modified Atkins Diet for adults with epilepsy is feasible and effective

Mackenzie C. Cervenka, Natalie N. Terao, Jennifer L. Bosarge, Bobbie J. Henry, Angela A. Klees, Peter F. Morrison, Eric H. Kossoff

Journal:

Year:

2012

Language:

english

File:

PDF, 67 KB

english, 2012

25

Immunological and Mass Spectrometric Assay s of SHBG: Consistent and Inconsistent Metabolic Associations in Healthy Men

Veldhuis, Johannes D., Bondar, Olga P., Dyer, Roy B., Trushin, Sergey A., Klee, Eric W., Singh, Ravinder J., Klee, George G.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2014

Language:

english

File:

PDF, 1.38 MB

english, 2014

26

Inferior Vena Cava Filters for Primary Prophylaxis: When Are They Indicated?

Wehrenberg-Klee, Eric, Stavropoulos, S.

Journal:

Seminars in Interventional Radiology

Year:

2012

Language:

english

File:

PDF, 126 KB

english, 2012

27

Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic

Boczek, Nicole J., Sigafoos, Ashley N., Zimmermann, Michael T., Maus, Rachel L., Cousin, Margot A., Blackburn, Patrick R., Urrutia, Raul, Clark, Karl J., Patterson, Marc C., Wick, Myra J., Klee, Eric

Journal:

Clinical Case Reports

Year:

2016

Language:

english

File:

PDF, 2.80 MB

english, 2016

28

De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability

Nicola, Pantelis, Blackburn, Patrick R., Rasmussen, Kristen J., Bertsch, Nicole L., Klee, Eric W., Hasadsri, Linda, Pichurin, Pavel N., Rankin, Julia, Raymond, F. Lucy, Clayton-Smith, Jill

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 1.49 MB

english, 2019

29

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1

Blackburn, Patrick R., Selcen, Duygu, Gass, Jennifer M., Jackson, Jessica L., Macklin, Sarah, Cousin, Margot A., Boczek, Nicole J., Klee, Eric W., Dimberg, Elliot L., Kennelly, Kathleen D., Atwal, Pal

Journal:

Molecular Genetics & Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 1.36 MB

english, 2017

30

Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys–Dietz syndrome (LDS) impairs canonical TGF-β signaling

Cousin, Margot A., Zimmermann, Michael T., Mathison, Angela J., Blackburn, Patrick R., Boczek, Nicole J., Oliver, Gavin R., Lomberk, Gwen A., Urrutia, Raul A., Deyle, David R., Klee, Eric W.

Journal:

Molecular Case Studies

Year:

2017

Language:

english

File:

PDF, 1.78 MB

english, 2017

31

GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease

Pinto e Vairo, Filippo, Bertsch, Nicole, Klee, Eric W., Gavrilova, Ralitza H.

Journal:

Acta Neuropathologica Communications

Year:

2018

Language:

english

File:

PDF, 894 KB

english, 2018

32

Aurora kinase B-phosphorylated HP1α functions in chromosomal instability

Williams, Monique M., Mathison, Angela J., Christensen, Trent, Greipp, Patricia T., Knutson, Darlene L., Klee, Eric W., Zimmermann, Michael T., Iovanna, Juan, Lomberk, Gwen A., Urrutia, Raul A.

Journal:

Year:

2019

Language:

english

File:

PDF, 6.49 MB

english, 2019

33

Novel biallelic variants in MSTO1 associated with mitochondrial myopathy

Schultz-Rogers, Laura, Ferrer, Alejandro, Dsouza, Nikita R., Zimmermann, Michael T., Smith, Benn E., Klee, Eric, Dhamija, Radhika

Journal:

Molecular Case Studies

Year:

2019

Language:

english

File:

PDF, 827 KB

english, 2019

34

Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosa

e Vairo, Filippo Pinto, Kroc, Sarah A., Bertsch, Nicole L., Sigafoos, Ashley N., Lee, Han B., Dsouza, Nikita R., Clark, Karl J., Pichurin, Pavel N., Zimmermann, Michael T., Klee, Eric W.

Journal:

Thrombosis Research

Year:

2020

File:

PDF, 1.23 MB

2020

35

Zebrafish approaches enhance the translational research tackle box

Pickart, Michael A., Klee, Eric W.

Journal:

Translational Research

Year:

2014

Language:

english

File:

PDF, 931 KB

english, 2014

36

[ACM Press the 37th SIGCSE technical symposium - Houston, Texas, USA (2006.03.03-2006.03.05)] Proceedings of the 37th SIGCSE technical symposium on Computer science education - SIGCSE '06 - The ACM java task force

Roberts, Eric, Yellin, Frank, Bruce, Kim, Cross, James H., Cutler, Robb, Grissom, Scott, Klee, Karl, Rodger, Susan, Trees, Fran, Utting, Ian

Year:

2006

Language:

english

File:

PDF, 100 KB

english, 2006

37

The prevalence of lysosome-related diseases in a cohort of undiagnosed patients

Vairo, Filippo, Blackburn, Patrick, Cousin, Margot, Kaiwar, Charu, Boczek, Nicole, Lazaridis, Konstantinos, Babovic-Vuksanovic, Dusica, Klee, Eric

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

38

Granzyme B PET Imaging as a Predictive Biomarker of Immunotherapy Response

Larimer, Benjamin M., Wehrenberg-Klee, Eric, Dubois, Frank, Mehta, Anila, Kalomeris, Taylor, Flaherty, Keith, Boland, Genevieve, Mahmood, Umar

Journal:

Cancer Research

Year:

2017

Language:

english

File:

PDF, 1.35 MB

english, 2017

39

Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C)

Swaika, Abhisek, Boczek, Nicole J., Sood, Neha, Guthrie, Kimberly, Klee, Eric W., Agrawal, Ankit, Dimberg, Elliot L., Ailawadhi, Sikander

Journal:

Case Reports in Genetics

Year:

2016

Language:

english

File:

PDF, 1.49 MB

english, 2016

40

Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties

Zimmermann, Michael T., Urrutia, Raul, Cousin, Margot A., Oliver, Gavin R., Klee, Eric W.

Journal:

Frontiers in Genetics

Year:

2018

Language:

english

File:

PDF, 4.02 MB

english, 2018

41

Properties of locust muscle 6-phosphofructokinase and their importance in the regulation of glycolytic flux during prolonged flight

Gerhard Wegener, Ilona Beinhauer, Andreas Klee, Eric A. Newsholme

Journal:

Journal of Comparative Physiology B

Year:

1987

Language:

english

File:

PDF, 1.10 MB

english, 1987

42

Functional analysis of a tomato salicylic acid methyl transferase and its role in synthesis of the flavor volatile methyl salicylate

Denise Tieman, Michelle Zeigler, Eric Schmelz, Mark G. Taylor, Sarah Rushing, Jeffrey B. Jones, Harry J. Klee

Journal:

The Plant Journal

Year:

2010

Language:

english

File:

PDF, 492 KB

english, 2010

43

Impact on Renal Function of Percutaneous Thermal Ablation of Renal Masses in Patients with Preexisting Chronic Kidney Disease

Wehrenberg-Klee, Eric, Clark, Timothy W.I., Malkowicz, Stanley B., Soulen, Michael C., Wein, Alan J., Mondschein, Jeffrey I., Van Arsdalen, Keith, Guzzo, Thomas J., Stavropoulos, S. William

Journal:

Journal of Vascular and Interventional Radiology

Year:

2012

Language:

english

File:

PDF, 758 KB

english, 2012

44

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases

Blackburn, Patrick R., Barnett, Sarah S., Zimmermann, Michael T., Cousin, Margot A., Kaiwar, Charu, Pinto e Vairo, Filippo, Niu, Zhiyv, Ferber, Matthew J., Urrutia, Raul A., Selcen, Duygu, Klee, Eric

Journal:

Molecular Case Studies

Year:

2017

Language:

english

File:

PDF, 979 KB

english, 2017

45

Pathogenic Variant in ACTB , p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation

Conboy, Erin, Vairo, Filippo, Waggoner, Darrel, Ober, Carole, Das, Soma, Dhamija, Radhika, Klee, Eric W., Pichurin, Pavel

Journal:

Case Reports in Genetics

Year:

2017

Language:

english

File:

PDF, 1.33 MB

english, 2017

46

Computational Detection of Known Pathogenic Gene Fusions in a Normal Tissue Database and Implications for Genetic Disease Research

Oliver, Gavin Robert, Jenkinson, Garrett, Klee, Eric W.

Journal:

Frontiers in Genetics

Year:

2020

Language:

english

File:

PDF, 2.18 MB

english, 2020

47

A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C

Macke, Erica L., Morales-Rosado, Joel A., Gupta, Aditi, Schmitz, Christopher T., Kruisselbrink, Teresa, Lanpher, Brendan, Klee, Eric W.

Journal:

Molecular Case Studies

Year:

2020

File:

PDF, 1.36 MB

2020

48

Books received

Wehrenberg-Klee, Eric, Clark, Timothy W.I., Malkowicz, Stanley B., Soulen, Michael C., Wein, Alan J., Mondschein, Jeffrey I., Van Arsdalen, Keith, Guzzo, Thomas J., Stavropoulos, S. William

Journal:

Year:

1989

Language:

english

File:

PDF, 124 KB

english, 1989

49

Next Generation Sequencing of Sporadic Vestibular Schwannoma

Carlson, Matthew L., Smadbeck, James B., Link, Michael J., Klee, Eric W., Vasmatzis, George, Schimmenti, Lisa A.

Journal:

Otology & Neurotology

Year:

2018

Language:

english

File:

PDF, 371 KB

english, 2018

50

Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls

Pinto e Vairo, Filippo, Conboy, Erin, de Souza, Carolina Fischinger Moura, Jones, Amie, Barnett, Sarah S., Klee, Eric W., Lanpher, Brendan C.

Journal:

Year:

2018

Language:

english

File:

PDF, 1.47 MB

english, 2018

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