Publications by authors named "Jessica Mester"

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A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.
Cristina Fortuno, Megan N Frone, Jessica Mester, Miguel de la Hoya, Phuong L Mai

Genome Med· October 2025

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Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder.
Marissa J Maroni, Melissa Barton, Katherine Lynch, Ashish R Deshwar, Philip D Campbell, Jessica L Mester

Brain· June 2025

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Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder.
Marissa J Maroni, Melissa Barton, Katherine Lynch, Ashish R Deshwar, Philip D Campbell, Jessica L Mester

medRxiv· April 2025

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Jessica L Mester

Am J Hum Genet· June 2024

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Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines.
Cristina Fortuno, Kyriaki Michailidou, Michael Parsons, Jill S Dolinsky, Tina Pesaran, Jessica L Mester

Hum Mol Genet· April 2024

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Jessica L Mester

Am J Hum Genet· April 2024

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Jessica L Mester

Am J Hum Genet· January 2024

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Specifications of the ACMG/AMP Variant Classification Guidelines for Germline Variant Curation.
Jessica N Hatton, Megan N Frone, Hannah C Cox, Stephanie B Crowley, Susan Hiraki, Jessica L Mester

Hum Mutat· December 2023

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Rare variants in cause delayed development, intellectual disability, autism, and epilepsy.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Jessica M Pfliger, Jill A Rosenfeld, Jessica L Mester

medRxiv· March 2023

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Fibroblast testing can inform medical management in individuals with mosaic variants detected on hereditary cancer panels.
Erin G Sutcliffe, Jessica L Mester, Lisa R Susswein, Maegan E Roberts, Megan L Marshall

Cancer Genet· August 2022

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ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.
Christine G Preston, Matt W Wright, Rao Madhavrao, Steven M Harrison, Jennifer L Goldstein, Jessica L Mester

Genome Med· January 2022

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Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Cristina Fortuno, Kristy Lee, Magali Olivier, Tina Pesaran, Phuong L Mai, Jessica Mester

Hum Mutat· March 2021

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Genotype-phenotype correlations among TP53 carriers: Literature review and analysis of probands undergoing multi-gene panel testing and single-gene testing.
Cristina Fortuno, Tina Pesaran, Jessica Mester, Jill Dolinsky, Amal Yussuf

Cancer Genet· October 2020

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Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.
Cristina Fortuno, Jessica Mester, Tina Pesaran, Jeffrey N Weitzel, Jill Dolinsky

Hum Mutat· September 2020

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The Evolution of Constitutional Sequence Variant Interpretation.
Jessica Mester, Tina Pesaran

Clin Lab Med· June 2020

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Apparently Heterozygous TP53 Pathogenic Variants May Be Blood Limited in Patients Undergoing Hereditary Cancer Panel Testing.
Jessica L Mester, Sarah A Jackson, Kristen Postula, Amy Stettner, Sheila Solomon

J Mol Diagn· March 2020

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Utility of Expedited Hereditary Cancer Testing in the Surgical Management of Patients with a New Breast Cancer Diagnosis.
Kristin A Theobald, Lisa R Susswein, Megan L Marshall, Maegan E Roberts, Jessica L Mester

Ann Surg Oncol· November 2018

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Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.
Jessica L Mester, Rajarshi Ghosh, Tina Pesaran, Robert Huether, Rachid Karam

Hum Mutat· November 2018

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ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
Edgar A Rivera-Muñoz, Laura V Milko, Steven M Harrison, Danielle R Azzariti, C Lisa Kurtz, Jessica L Mester

Hum Mutat· November 2018

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With Regard to PTEN Promoter Testing for Hereditary Cancer Risk Assessment.
Jessica L Mester, Kathleen S Hruska

JCO Precis Oncol· November 2018

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Germline compound heterozygous poly-glutamine deletion in USF3 may be involved in predisposition to heritable and sporadic epithelial thyroid carcinoma.
Ying Ni, Spencer Seballos, Benjamin Fletcher, Todd Romigh, Lamis Yehia, Jessica Mester

Hum Mol Genet· January 2017

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Exome sequencing reveals germline gain-of-function mutation in an adult with Lhermitte-Duclos disease.
Samantha Colby, Lamis Yehia, Farshad Niazi, JinLian Chen, Ying Ni, Jessica L Mester

Cold Spring Harb Mol Case Stud· November 2016

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PTEN hamartoma tumor syndrome.
Jessica Mester, Eng Charis

Handb Clin Neurol· August 2016

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Assessment of clinical workload for general and specialty genetic counsellors at an academic medical center: a tool for evaluating genetic counselling practices.
Brandie Heald, Lisa Rybicki, Diane Clements, Jessica Marquard, Jessica Mester

NPJ Genom Med· May 2016

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Germline PARP4 mutations in patients with primary thyroid and breast cancers.
Yuji Ikeda, Kazuma Kiyotani, Poh Yin Yew, Taigo Kato, Kenji Tamura, Jessica L Mester

Endocr Relat Cancer· March 2016

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