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Items: 23


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

Rivera-Muñoz EA, Milko LV, Harrison SM, Azzariti DR, Kurtz CL, Lee K, Mester JL, Weaver MA, Currey E, Craigen W, Eng C, Funke B, Hegde M, Hershberger RE, Mao R, Steiner RD, Vincent LM, Martin CL, Plon SE, Ramos E, Rehm HL, Watson M, Berg JS.

Hum Mutat. 2018 Nov;39(11):1614-1622. doi: 10.1002/humu.23645.


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

Mester JL, Ghosh R, Pesaran T, Huether R, Karam R, Hruska KS, Costa HA, Lachlan K, Ngeow J, Barnholtz-Sloan J, Sesock K, Hernandez F, Zhang L, Milko L, Plon SE, Hegde M, Eng C.

Hum Mutat. 2018 Nov;39(11):1581-1592. doi: 10.1002/humu.23636.


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

Theobald KA, Susswein LR, Marshall ML, Roberts ME, Mester JL, Speyer D, Williams RNW, Knapke SC, Solomon SR, Murphy PD, Klein RT, Hruska KS, Solomon BD.

Ann Surg Oncol. 2018 Nov;25(12):3556-3562. doi: 10.1245/s10434-018-6581-8. Epub 2018 Aug 30.


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

Colby S, Yehia L, Niazi F, Chen J, Ni Y, Mester JL, Eng C.

Cold Spring Harb Mol Case Stud. 2016 Nov;2(6):a001230.


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

Ikeda Y, Kiyotani K, Yew PY, Kato T, Tamura K, Yap KL, Nielsen SM, Mester JL, Eng C, Nakamura Y, Grogan RH.

Endocr Relat Cancer. 2016 Mar;23(3):171-9. doi: 10.1530/ERC-15-0359. Epub 2015 Dec 23.


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

Yehia L, Niazi F, Ni Y, Ngeow J, Sankunny M, Liu Z, Wei W, Mester JL, Keri RA, Zhang B, Eng C.

Am J Hum Genet. 2015 Nov 5;97(5):661-76. doi: 10.1016/j.ajhg.2015.10.001. Epub 2015 Oct 29.


KLLN epigenotype-phenotype associations in Cowden syndrome.

Nizialek EA, Mester JL, Dhiman VK, Smiraglia DJ, Eng C.

Eur J Hum Genet. 2015 Nov;23(11):1538-43. doi: 10.1038/ejhg.2015.8. Epub 2015 Feb 11.


Communicating with biobank participants: preferences for receiving and providing updates to researchers.

Mester JL, Mercer M, Goldenberg A, Moore RA, Eng C, Sharp RR.

Cancer Epidemiol Biomarkers Prev. 2015 Apr;24(4):708-12. doi: 10.1158/1055-9965.EPI-13-1375. Epub 2015 Jan 18.


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

Mahdi H, Mester JL, Nizialek EA, Ngeow J, Michener C, Eng C.

Cancer. 2015 Mar 1;121(5):688-96. doi: 10.1002/cncr.29106. Epub 2014 Nov 5.


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

Ngeow J, Stanuch K, Mester JL, Barnholtz-Sloan JS, Eng C.

J Clin Oncol. 2014 Jun 10;32(17):1818-24. doi: 10.1200/JCO.2013.53.6656. Epub 2014 Apr 28.


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

Mester JL, Moore RA, Eng C.

Oncologist. 2013;18(10):1083-90. doi: 10.1634/theoncologist.2013-0174. Epub 2013 Sep 13.


A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma.

Farley MN, Schmidt LS, Mester JL, Pena-Llopis S, Pavia-Jimenez A, Christie A, Vocke CD, Ricketts CJ, Peterson J, Middelton L, Kinch L, Grishin N, Merino MJ, Metwalli AR, Xing C, Xie XJ, Dahia PLM, Eng C, Linehan WM, Brugarolas J.

Mol Cancer Res. 2013 Sep;11(9):1061-1071. doi: 10.1158/1541-7786.MCR-13-0111. Epub 2013 May 24.


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

Hobert JA, Embacher R, Mester JL, Frazier TW 2nd, Eng C.

Eur J Hum Genet. 2014 Feb;22(2):273-6. doi: 10.1038/ejhg.2013.114. Epub 2013 May 22.


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

Nizialek EA, Peterson C, Mester JL, Downes-Kelly E, Eng C.

Hum Mol Genet. 2013 Jun 15;22(12):2451-61. doi: 10.1093/hmg/ddt097. Epub 2013 Feb 27.


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

Ngeow J, Heald B, Rybicki LA, Orloff MS, Chen JL, Liu X, Yerian L, Willis J, Lehtonen HJ, Lehtonen R, Mester JL, Moline J, Burke CA, Church J, Aaltonen LA, Eng C.

Gastroenterology. 2013 Jun;144(7):1402-9, 1409.e1-5. doi: 10.1053/j.gastro.2013.02.001. Epub 2013 Feb 8.


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

Orloff MS, He X, Peterson C, Chen F, Chen JL, Mester JL, Eng C.

Am J Hum Genet. 2013 Jan 10;92(1):76-80. doi: 10.1016/j.ajhg.2012.10.021. Epub 2012 Dec 13.


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

Ngeow J, He X, Mester JL, Lei J, Romigh T, Orloff MS, Milas M, Eng C.

J Clin Endocrinol Metab. 2012 Dec;97(12):E2320-7. doi: 10.1210/jc.2012-2944. Epub 2012 Oct 12.


Genetic counselors: your partners in clinical practice.

Mester JL, Schreiber AH, Moran RT.

Cleve Clin J Med. 2012 Aug;79(8):560-8. doi: 10.3949/ccjm.79a.11091. Review.


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

Mester JL, Zhou M, Prescott N, Eng C.

Urology. 2012 May;79(5):1187.e1-7. doi: 10.1016/j.urology.2011.12.025. Epub 2012 Mar 3.


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

Hobert JA, Mester JL, Moline J, Eng C.

Genet Med. 2012 Jun;14(6):616-9. doi: 10.1038/gim.2011.63. Epub 2012 Jan 26.


Lifetime cancer risks in individuals with germline PTEN mutations.

Tan MH, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C.

Clin Cancer Res. 2012 Jan 15;18(2):400-7. doi: 10.1158/1078-0432.CCR-11-2283.


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

Mester JL, Tilot AK, Rybicki LA, Frazier TW 2nd, Eng C.

Eur J Hum Genet. 2011 Jul;19(7):763-8. doi: 10.1038/ejhg.2011.20. Epub 2011 Feb 23.


Perceptions of licensure: a survey of Michigan genetic counselors.

Mester JL, Trepanier AM, Harper CE, Rozek LS, Yashar BM, Uhlmann WR.

J Genet Couns. 2009 Aug;18(4):357-65. doi: 10.1007/s10897-009-9225-0. Epub 2009 May 19.

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