Showing 1 - 20 results of 40 for search 'Eric W. Klee', query time: 0.05s Refine Results
  1. 1
    Computational Detection of Known Pathogenic Gene Fusions in a Normal Tissue Database and Implications for Genetic Disease Research

    Computational Detection of Known Pathogenic Gene Fusions in a Normal Tissue Database and Implications for Genetic Disease Research by Gavin Robert Oliver, Gavin Robert Oliver, Garrett Jenkinson, Garrett Jenkinson, Eric W. Klee, Eric W. Klee

    Published 2020-02-01
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  2. 2
    Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties

    Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties by Michael T. Zimmermann, Michael T. Zimmermann, Raul Urrutia, Raul Urrutia, Margot A. Cousin, Gavin R. Oliver, Gavin R. Oliver, Eric W. Klee, Eric W. Klee

    Published 2018-07-01
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  3. 3
    Editorial: Clinical Genome Sequencing: Bioinformatics Challenges and Key Considerations

    Editorial: Clinical Genome Sequencing: Bioinformatics Challenges and Key Considerations by Shulan Tian, Zheng Jin Tu, Huihuang Yan, Eric W. Klee

    Published 2022-03-01
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  4. 4
    “The molecule’s the thing:” the promise of molecular modeling and dynamic simulations in aiding the prioritization and interpretation of genomic testing results [version 3; referees: 2 approved, 1 approved with reservations]

    “The molecule’s the thing:” the promise of molecular modeling and dynamic simulations in aiding the prioritization and interpretation of genomic testing results [version 3; referee... by Gavin R. Oliver, Michael T. Zimmermann, Eric W. Klee, Raul A. Urrutia

    Published 2016-07-01
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  5. 5
    “The molecule’s the thing:” the promise of molecular modeling and dynamic simulations in aiding the prioritization and interpretation of genomic testing results [version 2; referees: 2 approved, 1 approved with reservations]

    “The molecule’s the thing:” the promise of molecular modeling and dynamic simulations in aiding the prioritization and interpretation of genomic testing results [version 2; referee... by Gavin R. Oliver, Michael T. Zimmerman, Eric W. Klee, Raul A. Urrutia

    Published 2016-06-01
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  6. 6
    GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease

    GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease by Filippo Pinto e Vairo, Nicole Bertsch, Eric W. Klee, Ralitza H. Gavrilova

    Published 2018-10-01
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  7. 7
    Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants

    Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants by Karthik Muthusamy, Alejandro Ferrer, Eric W. Klee, Klaas J. Wierenga, Ralitza H. Gavrilova

    Published 2021-10-01
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  8. 8
    A somatic splice‐site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report

    A somatic splice‐site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report by Matheus V. M. B. Wilke, Lisa Schimmenti, Madeline Q. R. Lopour, Megha M. Tollefson, Eric W. Klee

    Published 2023-12-01
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  9. 9
    Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia

    Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia by Joel A. Morales‐Rosado, Erica L. Macke, Margot A. Cousin, Gavin R. Oliver, Radhika Dhamija, Eric W. Klee

    Published 2020-09-01
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  10. 10
    Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing.

    Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation... by Michael T Zimmermann, Raul Urrutia, Gavin R Oliver, Patrick R Blackburn, Margot A Cousin, Nicole J Bozeck, Eric W Klee

    Published 2017-01-01
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  11. 11
    Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants

    Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants by Aditi Gupta, Sarah A. Ewing, Deborah L. Renaud, Linda Hasadsri, Kimiyo M. Raymond, Eric W. Klee, Ralitza H. Gavrilova

    Published 2019-04-01
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  12. 12
    Identification of AFG3L2 dominant optic atrophy following reanalysis of clinical exome sequencing

    Identification of AFG3L2 dominant optic atrophy following reanalysis of clinical exome sequencing by Michael C. Brodsky, Rory J. Olson, Faizal Z. Asumda, Madeline Q.R. Lopour, Lisa A. Schimmenti, Eric W. Klee

    Published 2023-06-01
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  13. 13
    Larval zebrafish model for FDA-approved drug repositioning for tobacco dependence treatment.

    Larval zebrafish model for FDA-approved drug repositioning for tobacco dependence treatment. by Margot A Cousin, Jon O Ebbert, Amanda R Wiinamaki, Mark D Urban, David P Argue, Stephen C Ekker, Eric W Klee

    Published 2014-01-01
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  14. 14
    Late onset asymptomatic pancreatic neuroendocrine tumor – A case report on the phenotypic expansion for MEN1

    Late onset asymptomatic pancreatic neuroendocrine tumor – A case report on the phenotypic expansion for MEN1 by Charu Kaiwar, Sarah K. Macklin, Jennifer M. Gass, Jessica Jackson, Eric W. Klee, Stephanie L. Hines, John A. Stauffer, Paldeep S. Atwal

    Published 2017-07-01
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  15. 15
    Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome

    Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome by Erica L. Macke, Joel A. Morales‐Rosado, Sarah K. Macklin‐Mantia, Christopher T. Schmitz, Björn Oskarsson, Eric W. Klee, Klaas J. Wierenga

    Published 2022-07-01
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  16. 16
    Pathogenic mutations in the chromokinesin KIF22 disrupt anaphase chromosome segregation

    Pathogenic mutations in the chromokinesin KIF22 disrupt anaphase chromosome segregation by Alex F Thompson, Patrick R Blackburn, Noah S Arons, Sarah N Stevens, Dusica Babovic-Vuksanovic, Jane B Lian, Eric W Klee, Jason Stumpff

    Published 2022-06-01
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  17. 17
    Nuclear Abnormalities in <i>LMNA</i> p.(Glu2Lys) Variant Segregating with <i>LMNA</i>-Associated Cardiocutaneous Progeria Syndrome

    Nuclear Abnormalities in <i>LMNA</i> p.(Glu2Lys) Variant Segregating with <i>LMNA</i>-Associated Cardiocutaneous Progeria Syndrome by Matheus V. M. B. Wilke, Myra Wick, Tanya L. Schwab, Rodrigo Tzovenos Starosta, Karl J. Clark, Heidi M. Connolly, Eric W. Klee

    Published 2024-01-01
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  18. 18
    Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report

    Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report by Filippo Pinto e Vairo, Pavel N. Pichurin, Fernando C. Fervenza, Samih H. Nasr, Kevin Mills, Christopher T. Schmitz, Eric W. Klee, Sandra M. Herrmann

    Published 2020-08-01
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  19. 19
    Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1

    Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1 by Katelynn M. Wilton, Joel A. Morales‐Rosado, Duygu Selcen, Karthik Muthusamy, Sarah Ewing, Katherine Agre, Katherine Nickels, Eric W. Klee, Mai‐Lan Ho, Eva Morava

    Published 2020-05-01
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  20. 20
    Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report

    Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report by Matheus V. M. B. Wilke, Eva Morava-Kozicz, Matthew J. Koster, Christopher T. Schmitz, Shannon Kaye Foster, Mrinal Patnaik, Kenneth J. Warrington, Eric W. Klee, Filippo Pinto e Vairo

    Published 2022-08-01
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