J. Mester

发表

A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.

Charis Eng, Jessica Mester, C. Eng, 2011, American journal of human genetics.

The Evolution of Constitutional Sequence Variant Interpretation.

T. Pesaran, J. Mester, 2020, Clinics in laboratory medicine.

The Evolution of Constitutional Sequence Variant Interpretation.

T. Pesaran, J. Mester, 2019, Clinics in laboratory medicine.

Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

Robert Huether, Rachid Karam, Charis Eng, 2018, Human mutation.

PTEN hamartoma tumor syndrome.

J. Mester, E. Charis, 2016, Handbook of clinical neurology.

When Overgrowth Bumps Into Cancer: The PTEN‐Opathies

C. Eng, J. Mester, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

Cowden syndrome: Recognizing and managing a not‐so‐rare hereditary cancer syndrome

C. Eng, J. Mester, 2015, Journal of surgical oncology.

PTEN germline mutations in patients initially tested for other hereditary cancer syndromes: would use of risk assessment tools reduce genetic testing?

C. Eng, J. Mester, Rebekah A. Moore, 2013, The oncologist.

Should patients with Cowden syndrome undergo prophylactic thyroidectomy?

C. Eng, J. Mester, M. Milas, 2012, Surgery.

Genetic counselors: Your partners in clinical practice

J. Mester, R. Moran, A. Schreiber, 2012, Cleveland Clinic Journal of Medicine.

A. Spurdle, J. Garber, S. Savage, 2020, Human mutation.

Apparently Heterozygous TP53 Pathogenic Variants May Be Blood-Limited in Patients Undergoing Hereditary Cancer Panel Testing.

K. Postula, J. Mester, K. Hruska, 2019, The Journal of molecular diagnostics : JMD.

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

C. Eng, J. Mester, 2012, Genetics in Medicine.

Utility of Expedited Hereditary Cancer Testing in the Surgical Management of Patients with a New Breast Cancer Diagnosis

B. Solomon, J. Mester, L. Susswein, 2018, Annals of Surgical Oncology.

Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome.

C. Eng, J. Mester, Kristi L. Bennett, 2010, JAMA.

Pulmonary Arterial Hypertension in a Patient with Cowden Syndrome and the PTEN Mutation

C. Eng, J. Mester, S. Farha, 2014, Pulmonary circulation.

Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.

C. Eng, J. Mester, Charissa Peterson, 2013, American journal of human genetics.

Communicating with Biobank Participants: Preferences for Receiving and Providing Updates to Researchers

R. Sharp, C. Eng, M. Mercer, 2015, Cancer Epidemiology, Biomarkers & Prevention.

Lifetime Cancer Risks of PTEN Mutation Carriers—Response

C. Eng, M. Tan, J. Mester, 2012, Clinical Cancer Research.

Fibroblast testing can inform medical management in individuals with mosaic variants detected on hereditary cancer panels.

J. Mester, L. Susswein, M. Roberts, 2022, Cancer genetics.

Lifetime Cancer Risks in Individuals with Germline PTEN Mutations

C. Eng, M. Tan, L. Rybicki, 2012, Clinical Cancer Research.

Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers.

C. Eng, L. Rybicki, J. Mester, 2010, Gastroenterology.

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

C. Eng, M. Ringel, J. Mester, 2011, Human molecular genetics.

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

S. Brenner, H. Rehm, P. Radivojac, 2022, American journal of human genetics.

Germline and somatic KLLN alterations in breast cancer dysregulate G2 arrest.

Charis Eng, C. Eng, J. Mester, 2013, Human molecular genetics.

Cognitive characteristics of PTEN hamartoma tumor syndromes

C. Eng, T. Frazier, J. Mester, 2013, Genetics in Medicine.

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Lea M. Starita, Fergus J. Couch, Jonathan S. Berg, 2019, Genome Medicine.

Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

J. Barnholtz-Sloan, C. Eng, J. Mester, 2014, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

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

C. Eng, R. Keri, F. Niazi, 2015, American journal of human genetics.

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

A. Spurdle, M. Olivier, Kristy Lee, 2020, medRxiv.

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation

Birgit Funke, William Craigen, Heidi L Rehm, 2018, Human mutation.

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.

C. Eng, L. Rybicki, J. Mester, 2011, The Journal of clinical endocrinology and metabolism.

Molecular and Phenotypic Abnormalities in Individuals with Germline Heterozygous PTEN Mutations and Autism

C. Eng, K. Koenig, A. Tilot, 2014, Molecular Psychiatry.

A Novel Germline Mutation in BAP1 Predisposes to Familial Clear-Cell Renal Cell Carcinoma

N. Grishin, W. Linehan, L. Schmidt, 2013, Molecular Cancer Research.

Exome sequencing reveals germline gain-of-function EGFR mutation in an adult with Lhermitte–Duclos disease

Charis Eng, Samantha Colby, C. Eng, 2016, Cold Spring Harbor molecular case studies.

Utility of PTEN protein dosage in predicting for underlying germline PTEN mutations among patients presenting with thyroid cancer and Cowden-like phenotypes.

C. Eng, T. Romigh, J. Mester, 2012, The Journal of clinical endocrinology and metabolism.

When Overgrowth Bumps Into Cancer: The PTEN-Opathies.

Charis Eng, Jessica Mester, C. Eng, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

KLLN epigenotype–phenotype associations in Cowden syndrome

D. Smiraglia, C. Eng, Vineet K. Dhiman, 2015, European Journal of Human Genetics.

Genotype-phenotype correlations among TP53 carriers: Literature review and analysis of probands undergoing multi-gene panel testing and single-gene testing.

A. Spurdle, P. James, T. Pesaran, 2020, Cancer genetics.

How to spot heritable breast cancer: A primary care physician’s guide

C. Eng, J. Mester, Marissa B. Smith, 2014, Cleveland Clinic Journal of Medicine.

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

C. Eng, A. Tilot, T. Frazier, 2011, European Journal of Human Genetics.

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

Diane B. Zastrow, Helio A. Costa, Marina T. DiStefano, 2022, Genome Medicine.

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

Diane B. Zastrow, Helio A. Costa, Marina T. DiStefano, 2021, medRxiv.

International consensus guidelines for constitutional sequence variant interpretation

Jessica L. Mester, Steven M. Harrison, Tina F. Pesaran, 2021 .

With Regard to PTEN Promoter Testing for Hereditary Cancer Risk Assessment.

J. Mester, K. Hruska, 2018, JCO precision oncology.

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

Yusuke Nakamura, K. Tamura, C. Eng, 2016, Endocrine-related cancer.

Elevated plasma succinate in PTEN, SDHB, and SDHD mutation–positive individuals

C. Eng, J. Mester, Judith A Hobert, 2012, Genetics in Medicine.

Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.

L. Aaltonen, J. Willis, J. Church, 2013, Gastroenterology.

Germline compound heterozygous poly-glutamine deletion in USF3 may be involved in predisposition to heritable and sporadic epithelial thyroid carcinoma

T. LaFramboise, C. Eng, M. Saji, 2016, Human molecular genetics.

Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy

Alyssa A. Tran, Undiagnosed Diseases Network, J. Rosenfeld, 2023, medRxiv.

Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly

C. Eng, T. Frazier, J. Mester, 2013, European Journal of Human Genetics.

Assessment of clinical workload for general and specialty genetic counsellors at an academic medical center: a tool for evaluating genetic counselling practices

C. Eng, L. Rybicki, J. Mester, 2016, npj Genomic Medicine.

A time study of cancer genetic counselors using a genetic counselor-only patient care model versus a traditional combined genetic counselor plus medical geneticist care model.

C. Eng, J. Mester, B. Heald, 2013, Journal of the National Comprehensive Cancer Network : JNCCN.

Genomics A Novel Germline Mutation in BAP 1 Predisposes to Familial Clear-Cell Renal Cell Carcinoma

N. Grishin, W. Linehan, L. Schmidt, 2013 .

Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome.

Ming Zhou, C. Eng, J. Mester, 2012, Urology.

Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.

W. Foulkes, D. Ritter, M. Anderson, 2023, Human mutation.

Perceptions of Licensure: A Survey of Michigan Genetic Counselors

A. Trepanier, L. Rozek, B. Yashar, 2009, Journal of Genetic Counseling.

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.

Dana M. Bis-Brewer, S. Brenner, H. Rehm, 2023, American journal of human genetics.

Germline PARP 4 mutations in patients with primary thyroid and breast cancers

Yusuke Nakamura, K. Tamura, C. Eng, 2016 .

Germline PTEN, SDHB‐D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden‐like syndromes: An international, multicenter, prospective study

C. Eng, J. Mester, C. Michener, 2015, Cancer.

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

C. Eng, T. Frazier, L. Rybicki, 2011, European Journal of Human Genetics.

Fibroblast testing can inform medical management in individuals with mosaic variants detected on hereditary cancer panels.

J. Mester, L. Susswein, M. Roberts, 2022, Cancer genetics.

Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome.

C. Eng, J. Mester, Kristi L. Bennett, 2010, JAMA.