Search Results - Jessica L. Mester

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  1. 1
    Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome

    Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome by Jessica L. Mester, Charis Eng

    Published 2012
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  2. 2
    Papillary Renal Cell Carcinoma Is Associated With PTEN Hamartoma Tumor Syndrome

    Papillary Renal Cell Carcinoma Is Associated With PTEN Hamartoma Tumor Syndrome by Jessica L. Mester, Ming Zhou, Nichole Prescott, Charis Eng

    Published 2012
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  3. 3
    Elevated plasma succinate in PTEN, SDHB, and SDHD mutation–positive individuals

    Elevated plasma succinate in PTEN, SDHB, and SDHD mutation–positive individuals by Judith A. Hobert, Jessica L. Mester, Jessica Moline, Charis Eng

    Published 2012
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  4. 4
    Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly

    Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly by Judith A. Hobert, Rebecca Embacher, Jessica L. Mester, Thomas Frazier, Charis Eng

    Published 2013
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  5. 5
    Second Malignant Neoplasms in Patients With Cowden Syndrome With Underlying Germline <i>PTEN</i> Mutations

    Second Malignant Neoplasms in Patients With Cowden Syndrome With Underlying Germline <i>PTEN</i> Mutations by Joanne Ngeow, Kim Stanuch, Jessica L. Mester, Jill S. Barnholtz‐Sloan, Charis Eng

    Published 2014
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  6. 6
    Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model

    Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model by Jessica L. Mester, Amanda K. Tilot, Lisa Rybicki, Thomas Frazier, Charis Eng

    Published 2011
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  7. 7
    Incidence and Clinical Characteristics of Thyroid Cancer in Prospective Series of Individuals with Cowden and Cowden-Like Syndrome Characterized by Germline PTEN, SDH, or KLLN Alterations

    Incidence and Clinical Characteristics of Thyroid Cancer in Prospective Series of Individuals with Cowden and Cowden-Like Syndrome Characterized by Germline PTEN, SDH, or KLLN Alte... by Joanne Ngeow, Jessica L. Mester, Lisa Rybicki, Ying Ni, Mira Milas, Charis Eng

    Published 2011
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  8. 8
    Germline <scp><i>PTEN</i></scp>, <scp><i>SDHB‐D</i></scp>, and <scp><i>KLLN</i></scp> alterations in endometrial cancer patients with Cowden and Cowden‐like syndromes: An international, multicenter, prospective study

    Germline <scp><i>PTEN</i></scp>, <scp><i>SDHB‐D</i></scp>, and <scp><i>KLLN</i></scp> alterations in endometrial cancer patients with Cowden and Cowden‐like syndromes: An internati... by Haider Mahdi, Jessica L. Mester, Emily Nizialek, Joanne Ngeow, Chad M. Michener, Charis Eng

    Published 2014
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  9. 9
    Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism

    Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism by Thomas Frazier, Rebecca Embacher, Amanda K. Tilot, Katherine Koenig, Jessica L. Mester, Charis Eng

    Published 2014
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  10. 10
    Frequent Gastrointestinal Polyps and Colorectal Adenocarcinomas in a Prospective Series of PTEN Mutation Carriers

    Frequent Gastrointestinal Polyps and Colorectal Adenocarcinomas in a Prospective Series of PTEN Mutation Carriers by Brandie Heald, Jessica L. Mester, Lisa Rybicki, Mohammed S. Orloff, Carol A. Burke, Charis Eng

    Published 2010
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  11. 11
    Lifetime Cancer Risks in Individuals with Germline <i>PTEN</i> Mutations

    Lifetime Cancer Risks in Individuals with Germline <i>PTEN</i> Mutations by Min-Han Tan, Jessica L. Mester, Joanne Ngeow, Lisa Rybicki, Mohammed S. Orloff, Charis Eng

    Published 2012
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  12. 12
    Germline PIK3CA and AKT1 Mutations in Cowden and Cowden-like Syndromes

    Germline PIK3CA and AKT1 Mutations in Cowden and Cowden-like Syndromes by Mohammed S. Orloff, Xin He, Charissa Peterson, Fusong Chen, Jin-Lian Chen, Jessica L. Mester, Charis Eng

    Published 2012
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  13. 13
    Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53

    Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53 by Ying Ni, Xin He, Jinlian Chen, Jessica Moline, Jessica L. Mester, Mohammed S. Orloff, Matthew D. Ringel, Charis Eng

    Published 2011
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  14. 14
    Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer

    Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer by Lamis Yehia, Farshad Niazi, Ying Ni, Joanne Ngeow, Madhav Sankunny, Zhigang Liu, Wei Wei, Jessica L. Mester, Ruth A. Keri, Bin Zhang, Charis Eng

    Published 2015
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  15. 15
    Germline PARP4 mutations in patients with primary thyroid and breast cancers

    Germline PARP4 mutations in patients with primary thyroid and breast cancers by Yuji Ikeda, Kazuma Kiyotani, Poh Yin Yew, Taigo Kato, Kenji Tamura, Kai Lee Yap, Sarah M. Nielsen, Jessica L. Mester, Charis Eng, Yusuke Nakamura, Raymon H. Grogan

    Published 2015
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  16. 16
    A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands

    A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands by Min-Han Tan, Jessica L. Mester, Charissa Peterson, Yiran Yang, Jin-Lian Chen, Lisa Rybicki, Kresimira M. Milas, Holly J. Pederson, Berna K. Remzi, Mohammed S. Orloff, Charis Eng

    Published 2010
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  17. 17
    Prevalence of Germline PTEN, BMPR1A, SMAD4, STK11, and ENG Mutations in Patients With Moderate-Load Colorectal Polyps

    Prevalence of Germline PTEN, BMPR1A, SMAD4, STK11, and ENG Mutations in Patients With Moderate-Load Colorectal Polyps by Joanne Ngeow, Brandie Heald, Lisa Rybicki, Mohammed S. Orloff, Jin Lian Chen, Xiuli Liu, Lisa Yerian, Joseph Willis, Heli Lehtonen, Rainer Lehtonen, Jessica L. Mester, Jessica Moline, Carol A. Burke, James M. Church, Lauri A. Aaltonen, Charis Eng

    Published 2013
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  18. 18
    Gene‐specific criteria for <i>PTEN</i> variant curation: Recommendations from the ClinGen PTEN Expert Panel

    Gene‐specific criteria for <i>PTEN</i> variant curation: Recommendations from the ClinGen PTEN Expert Panel by Jessica L. Mester, Rajarshi Ghosh, Tina Pesaran, Robert Huether, Rachid Karam, Kathleen S. Hruska, Helio A. Costa, Katherine Lachlan, Joanne Ngeow, Jill S. Barnholtz‐Sloan, Kaitlin Sesock, Felicia Hernandez, Liying Zhang, Laura V. Milko, Sharon E. Plon, Madhuri Hegde, Charis Eng

    Published 2018
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  19. 19
    Suggested application of HER2+ breast tumor phenotype for germline <i>TP53</i> variant classification within ACMG/AMP guidelines

    Suggested application of HER2+ breast tumor phenotype for germline <i>TP53</i> variant classification within ACMG/AMP guidelines by Cristina Fortuño, Jessica L. Mester, Tina Pesaran, Jeffrey N. Weitzel, Jill S. Dolinsky, Amal Yussuf, Kelly McGoldrick, Judy E. Garber, Sharon A. Savage, Payal P. Khincha, D. Gareth Evans, Maria Isabel Achatz, Kim E. Nichols, Kara N. Maxwell, Joshua D. Schiffman, Renata Lazari Sandoval, Paul A. James, Amanda B. Spurdle

    Published 2020
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  20. 20
    A Novel Germline Mutation in<i>BAP1</i>Predisposes to Familial Clear-Cell Renal Cell Carcinoma

    A Novel Germline Mutation in<i>BAP1</i>Predisposes to Familial Clear-Cell Renal Cell Carcinoma by Megan N. Farley, Laura S. Schmidt, Jessica L. Mester, Samuel Peña‐Llopis, Andrea Pavía-Jiménez, Alana Christie, Cathy D. Vocke, Christopher J. Ricketts, James Peterson, Lindsay Middelton, Lisa N. Kinch, Nick V. Grishin, Maria J. Merino, Adam R. Metwalli, Chao Xing, Xian-Jin Xie, Patricia L. M. Dahia, Charis Eng, W. Marston Linehan, James Brugarolas

    Published 2013
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