Charis Eng

Charis Eng

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Charis Eng

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Pharmacogenomics for Immunotherapy and Immune-related Cardiotoxicity.

Hum Mol Genet 2020 Jul 3. Epub 2020 Jul 3.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA.

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http://dx.doi.org/10.1093/hmg/ddaa137DOI Listing
July 2020

An Integrated Deep-Mutational-Scanning Approach Provides Clinical Insights on PTEN Genotype-Phenotype Relationships.

Am J Hum Genet 2020 06 21;106(6):818-829. Epub 2020 May 21.

Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7273526PMC
June 2020

Decreased nuclear Pten in neural stem cells contributes to deficits in neuronal maturation.

Mol Autism 2020 Jun 1;11(1):43. Epub 2020 Jun 1.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, 44195, USA.

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http://dx.doi.org/10.1186/s13229-020-00337-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268763PMC
June 2020

PTEN hamartoma tumour syndrome: What happens when there is no PTEN germline mutation?

Hum Mol Genet 2020 Jun 22. Epub 2020 Jun 22.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.

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http://dx.doi.org/10.1093/hmg/ddaa127DOI Listing
June 2020

Germline PTEN mutations are associated with a skewed peripheral immune repertoire in humans and mice.

Hum Mol Genet 2020 Jun 26. Epub 2020 Jun 26.

Genomic Medicine Institute, and Department of Cancer Biology, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio 44195, U.S.A.

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http://dx.doi.org/10.1093/hmg/ddaa118DOI Listing
June 2020

Bacteriome and mycobiome and bacteriome-mycobiome interactions in head and neck squamous cell carcinoma.

Oncotarget 2020 Jun 23;11(25):2375-2386. Epub 2020 Jun 23.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA.

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http://dx.doi.org/10.18632/oncotarget.27629DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7321695PMC
June 2020

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nat Commun 2020 May 5;11(1):2206. Epub 2020 May 5.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, 44195, USA.

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http://dx.doi.org/10.1038/s41467-020-16067-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200683PMC
May 2020

WWP1 Gain-of-Function Inactivation of PTEN in Cancer Predisposition.

N Engl J Med 2020 05;382(22):2103-2116

From the Cancer Research Institute, Beth Israel Deaconess Cancer Center (Y.-R.L., T.K., J.Z., N.P., J.L., W.W., P.P.P.), and the Departments of Medicine (Y.-R.L., T.K., N.P., P.P.P.) and Pathology (J.Z., J.L., W.W., P.P.P.), Beth Israel Deaconess Medical Center, Harvard Medical School, Boston; the Genomic Medicine Institute (L.Y., Y.N., B.L., C.E.) and the Department of Quantitative Health Sciences (Y.N.), Lerner Research Institute, Cleveland Clinic, the Taussig Cancer Institute (C.E.), the Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine (C.E.), and the Germline High Risk Cancer Focus Group, Case Comprehensive Cancer Center, Case Western Reserve University (C.E.) - all in Cleveland; the Department of Radiation and Medical Oncology, Zhongnan Hospital of Wuhan University (J.Z.), and the Medical Research Institute, Wuhan University (J.Z.) - both in Wuhan, China; and the Molecular Biotechnology Center, Department of Molecular Biotechnology and Health Sciences, University of Turin, Turin, Italy (P.P.P.).

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http://dx.doi.org/10.1056/NEJMoa1914919DOI Listing
May 2020

PTEN in Hereditary and Sporadic Cancer.

Cold Spring Harb Perspect Med 2020 Apr 1;10(4). Epub 2020 Apr 1.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA.

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http://dx.doi.org/10.1101/cshperspect.a036087DOI Listing
April 2020

Investigating the Link between Lynch Syndrome and Breast Cancer.

Eur J Breast Health 2020 Apr 1;16(2):106-109. Epub 2020 Apr 1.

Cleveland Clinic, Breast Services Department, Cleveland, OH, USA.

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http://dx.doi.org/10.5152/ejbh.2020.5198DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7138356PMC
April 2020

Oh GxE! The Complexity of Body Mass Index and Colon Cancer Risk.

J Natl Cancer Inst 2020 Apr 23. Epub 2020 Apr 23.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA.

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http://dx.doi.org/10.1093/jnci/djaa059DOI Listing
April 2020

The "APCs" of PTCs: Adenomatous Polyposis Syndrome and the Thyroid.

Thyroid 2020 Mar;30(3):355-356

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio.

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http://dx.doi.org/10.1089/thy.2020.0109DOI Listing
March 2020

Pharmacogenomics: An evolving clinical tool for precision medicine.

Cleve Clin J Med 2020 02;87(2):91-99

Genomic Medicine Institute, Lerner Research Institute, and Center for Personalized Genetic Healthcare, Cleveland Clinic Community Care; Department of Individualized Cancer Management, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL.

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http://dx.doi.org/10.3949/ccjm.87a.19073DOI Listing
February 2020

Cytoplasmic-predominant Pten increases microglial activation and synaptic pruning in a murine model with autism-like phenotype.

Mol Psychiatry 2020 Feb 13. Epub 2020 Feb 13.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.

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http://dx.doi.org/10.1038/s41380-020-0681-0DOI Listing
February 2020

Individualized genetic network analysis reveals new therapeutic vulnerabilities in 6,700 cancer genomes.

PLoS Comput Biol 2020 02 26;16(2):e1007701. Epub 2020 Feb 26.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, United States of America.

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http://dx.doi.org/10.1371/journal.pcbi.1007701DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7062285PMC
February 2020

The Clinical Spectrum of Mutations.

Annu Rev Med 2020 01 21;71:103-116. Epub 2019 Aug 21.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA; email:

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https://www.annualreviews.org/doi/10.1146/annurev-med-052218
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http://dx.doi.org/10.1146/annurev-med-052218-125823DOI Listing
January 2020

Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations.

JAMA Netw Open 2020 Jan 3;3(1):e1920415. Epub 2020 Jan 3.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio.

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http://dx.doi.org/10.1001/jamanetworkopen.2019.20415DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042875PMC
January 2020

IL13RA2 Is Differentially Regulated in Papillary Thyroid Carcinoma vs Follicular Thyroid Carcinoma.

J Clin Endocrinol Metab 2019 11;104(11):5573-5584

Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre, Singapore.

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http://dx.doi.org/10.1210/jc.2019-00040DOI Listing
November 2019

Pheochromocytoma and Paraganglioma. Reply.

N Engl J Med 2019 11;381(19):1883

Cleveland Clinic, Cleveland, OH.

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http://dx.doi.org/10.1056/NEJMc1912022DOI Listing
November 2019

Distinct Alterations in Tricarboxylic Acid Cycle Metabolites Associate with Cancer and Autism Phenotypes in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome.

Am J Hum Genet 2019 10 26;105(4):813-821. Epub 2019 Sep 26.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA; Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH 44195, USA; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA; Germline High Risk Cancer Focus Group, Case Comprehensive Cancer Center, Case Western Reserve University, Cleveland, OH 44106, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817552PMC
October 2019

PTEN modulates gene transcription by redistributing genome-wide RNA polymerase II occupancy.

Hum Mol Genet 2019 09;28(17):2826-2834

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.

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http://dx.doi.org/10.1093/hmg/ddz112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6735678PMC
September 2019

A Systems Pharmacology Approach Uncovers Wogonoside as an Angiogenesis Inhibitor of Triple-Negative Breast Cancer by Targeting Hedgehog Signaling.

Cell Chem Biol 2019 08 6;26(8):1143-1158.e6. Epub 2019 Jun 6.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA; Department of Molecular Medicine, Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland, OH 44195, USA; Case Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA. Electronic address:

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http://dx.doi.org/10.1016/j.chembiol.2019.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6697584PMC
August 2019

A genome-wide positioning systems network algorithm for in silico drug repurposing.

Nat Commun 2019 08 2;10(1):3476. Epub 2019 Aug 2.

Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1038/s41467-019-10744-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6677722PMC
August 2019

Pheochromocytoma and Paraganglioma.

N Engl J Med 2019 08;381(6):552-565

From the Section for Preventive Medicine, Medical Center-University of Freiburg, Faculty of Medicine, Albert-Ludwigs-University, Freiburg, Germany (H.P.H.N.); the Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Department of Internal Medicine, Mayo Clinic, Rochester, MN (W.F.Y.); and the Genomic Medicine Institute, Lerner Research Institute, and Taussig Cancer Institute, Cleveland Clinic, Cleveland (C.E.).

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http://dx.doi.org/10.1056/NEJMra1806651DOI Listing
August 2019

PTEN interacts with RNA polymerase II to dephosphorylate polymerase II C-terminal domain.

Oncotarget 2019 Aug 13;10(48):4951-4959. Epub 2019 Aug 13.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, 44195 OH, USA.

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http://dx.doi.org/10.18632/oncotarget.27128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6697640PMC
August 2019

PTEN Mutations Trigger Resistance to Immunotherapy.

Trends Mol Med 2019 06 27;25(6):461-463. Epub 2019 Mar 27.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA; Department of Molecular Medicine, Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland, OH 44195, USA; Case Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA; Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH 44195, USA; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA. Electronic address:

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http://dx.doi.org/10.1016/j.molmed.2019.03.003DOI Listing
June 2019

BDNF and COMT, but not APOE, alleles are associated with psychiatric symptoms in refractory epilepsy.

Epilepsy Behav 2019 05 22;94:131-136. Epub 2019 Mar 22.

Department of Psychiatry & Psychology, Neurological Institute, Cleveland Clinic, Cleveland, OH, United States of America; Cleveland Clinic Epilepsy Center, Neurological Institute, Cleveland, OH, United States of America. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2019.02.032DOI Listing
May 2019

Conformational Dynamics and Allosteric Regulation Landscapes of Germline PTEN Mutations Associated with Autism Compared to Those Associated with Cancer.

Am J Hum Genet 2019 05 18;104(5):861-878. Epub 2019 Apr 18.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA; Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland, OH 44195, USA; Case Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA; Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH 44195, USA; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506791PMC
May 2019

Dynamics and structural stability effects of germline PTEN mutations associated with cancer versus autism phenotypes.

J Biomol Struct Dyn 2019 Apr 14;37(7):1766-1782. Epub 2018 May 14.

a Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic , Cleveland , OH , USA.

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http://dx.doi.org/10.1080/07391102.2018.1465854DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6235728PMC
April 2019

Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study.

Lancet Diabetes Endocrinol 2019 03 16;7(3):213-220. Epub 2019 Jan 16.

Endocrine Oncology, Institut Gustave Roussy Ecole Doctorale de Cancerologie, Villejuif, France.

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https://linkinghub.elsevier.com/retrieve/pii/S22138587183033
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http://dx.doi.org/10.1016/S2213-8587(18)30336-XDOI Listing
March 2019

Genome-wide tracts of homozygosity and exome analyses reveal repetitive elements with Barrets esophagus/esophageal adenocarcinoma risk.

BMC Bioinformatics 2019 Mar 14;20(Suppl 2):98. Epub 2019 Mar 14.

The Department of Epidemiology, University of Arkansas for Medical Sciences, Little Rock, AR, 72205, USA.

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http://dx.doi.org/10.1186/s12859-019-2622-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6419328PMC
March 2019

Largescale population genomics versus deep phenotyping: Brute force or elegant pragmatism towards precision medicine.

NPJ Genom Med 2019 26;4. Epub 2019 Mar 26.

1Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195 USA.

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http://dx.doi.org/10.1038/s41525-019-0080-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6435636PMC
March 2019

PTEN-opathies: from biological insights to evidence-based precision medicine.

J Clin Invest 2019 02 7;129(2):452-464. Epub 2019 Jan 7.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA.

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http://dx.doi.org/10.1172/JCI121277DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355220PMC
February 2019

Personal Mutanomes Meet Modern Oncology Drug Discovery and Precision Health.

Pharmacol Rev 2019 01 13;71(1):1-19. Epub 2018 Dec 13.

Genomic Medicine Institute, Lerner Research Institute (F.C., C.E.) and Taussig Cancer Institute (C.E.), Cleveland Clinic, Cleveland, Ohio; Department of Molecular Medicine, Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland, Ohio (F.C., C.E.); CASE Comprehensive Cancer Center (F.C., C.E.) and Department of Genetics and Genome Sciences (C.E.), Case Western Reserve University School of Medicine, Cleveland, Ohio; Departments of Bioinformatics and Computational Biology and Systems Biology, The University of Texas MD Anderson Cancer Center, Houston, Texas (H.L.); Bakar Computational Health Sciences Institute, University of California, San Francisco, San Francisco, California (A.J.B.); Center for Data-Driven Insights and Innovation, University of California Health, Oakland, California (A.J.B.); Cancer and Inflammation Program, Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, National Cancer Institute at Frederick, Frederick, Maryland (R.N.); and Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel (R.N.)

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http://pharmrev.aspetjournals.org/lookup/doi/10.1124/pr.118.
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http://dx.doi.org/10.1124/pr.118.016253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6294046PMC
January 2019

Constitutional mislocalization of Pten drives precocious maturation in oligodendrocytes and aberrant myelination in model of autism spectrum disorder.

Transl Psychiatry 2019 01 17;9(1):13. Epub 2019 Jan 17.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, USA.

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http://dx.doi.org/10.1038/s41398-018-0364-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341090PMC
January 2019

Pro-tumorigenic non-pump function of sodium iodide symporter: A reimagined Trojan horse?

Oncotarget 2019 Jan 22;10(7):688-689. Epub 2019 Jan 22.

Charis Eng: Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA; Taussig Cancer Institute, Cleveland Clinic Foundation, Cleveland, OH, USA; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, USA; Germline High Risk Cancer Focus Group, CASE Comprehensive Cancer Center, Case Western Reserve University, Cleveland, OH, USA.

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http://dx.doi.org/10.18632/oncotarget.26596DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6366818PMC
January 2019

Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors.

Endocr Relat Cancer 2018 09 10;25(9):783-793. Epub 2018 May 10.

Department of Medicine IIFaculty of Medicine, Medical Center - University of Freiburg, University of Freiburg, Freiburg, Germany

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http://dx.doi.org/10.1530/ERC-18-0100DOI Listing
September 2018

Age at first full-term birth and breast cancer risk in BRCA1 and BRCA2 mutation carriers.

Breast Cancer Res Treat 2018 Sep 17;171(2):421-426. Epub 2018 May 17.

Women's College Research Institute, Women's College Hospital, 76 Grenville St., 6th Floor, Toronto, ON, M5S 1B2, Canada.

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http://link.springer.com/10.1007/s10549-018-4822-y
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http://dx.doi.org/10.1007/s10549-018-4822-yDOI Listing
September 2018

Non-canonical role of cancer-associated mutant SEC23B in the ribosome biogenesis pathway.

Hum Mol Genet 2018 09;27(18):3154-3164

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.

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https://academic.oup.com/hmg/article/27/18/3154/5034854
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http://dx.doi.org/10.1093/hmg/ddy226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6121187PMC
September 2018

KLLN-mediated DNA damage-induced apoptosis is associated with regulation of p53 phosphorylation and acetylation in breast cancer cells.

Cell Death Discov 2018 11;4:31. Epub 2018 Sep 11.

1Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195 USA.

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http://dx.doi.org/10.1038/s41420-018-0094-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6134104PMC
September 2018

65 YEARS OF THE DOUBLE HELIX: One gene, many endocrine and metabolic syndromes: -opathies and precision medicine.

Endocr Relat Cancer 2018 08 23;25(8):T121-T140. Epub 2018 May 23.

Genomic Medicine InstituteLerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA

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http://dx.doi.org/10.1530/ERC-18-0162DOI Listing
August 2018

65 YEARS OF THE DOUBLE HELIX: It's all in the DNA: understanding and managing endocrine neoplasms.

Endocr Relat Cancer 2018 08;25(8):E5-E7

Genomic Medicine InstituteLerner Research Institute and Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, USA.

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http://dx.doi.org/10.1530/ERC-18-0283DOI Listing
August 2018

Impact of an embedded genetic counselor on breast cancer treatment.

Breast Cancer Res Treat 2018 May 18;169(1):43-46. Epub 2018 Jan 18.

Division of Breast Services, Department of General Surgery, Cleveland Clinic, 9500 Euclid Ave./A80, Cleveland, OH, 44195, USA.

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http://link.springer.com/10.1007/s10549-017-4643-4
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http://dx.doi.org/10.1007/s10549-017-4643-4DOI Listing
May 2018

Impact of Multigene Panel Testing on Surgical Decision Making in Breast Cancer Patients.

J Am Coll Surg 2018 04 31;226(4):560-565. Epub 2018 Jan 31.

Breast Services Section, Department of General Surgery, Cleveland Clinic, Cleveland, OH. Electronic address:

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http://dx.doi.org/10.1016/j.jamcollsurg.2017.12.037DOI Listing
April 2018

The microbiome in hamartoma tumor syndrome.

Endocr Relat Cancer 2018 03 12;25(3):233-243. Epub 2017 Dec 12.

Genomic Medicine InstituteLerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA

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http://dx.doi.org/10.1530/ERC-17-0442DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5799828PMC
March 2018

Germline variants are enriched in -wildtype Bannayan-Riley-Ruvalcaba syndrome.

NPJ Genom Med 2017 18;2:37. Epub 2017 Dec 18.

Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195 USA.

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http://www.nature.com/articles/s41525-017-0039-y
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http://dx.doi.org/10.1038/s41525-017-0039-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735137PMC
December 2017

Bacteriome and mycobiome associations in oral tongue cancer.

Oncotarget 2017 Nov 19;8(57):97273-97289. Epub 2017 Oct 19.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.

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http://dx.doi.org/10.18632/oncotarget.21921DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5722561PMC
November 2017

Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.

Hum Mutat 2017 10 17;38(10):1372-1377. Epub 2017 Jul 17.

Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio.

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http://dx.doi.org/10.1002/humu.23288DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5599331PMC
October 2017

Breast tissue, oral and urinary microbiomes in breast cancer.

Oncotarget 2017 Oct 14;8(50):88122-88138. Epub 2017 Aug 14.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.

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http://dx.doi.org/10.18632/oncotarget.21490DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5675698PMC
October 2017

A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.

J Med Genet 2017 07 19;54(7):471-478. Epub 2017 May 19.

Center for Molecular and Human Genetics, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.

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http://dx.doi.org/10.1136/jmedgenet-2016-104484DOI Listing
July 2017

Max Schottelius: Pioneer in Pheochromocytoma.

J Endocr Soc 2017 Jul 1;1(7):957-964. Epub 2017 Jul 1.

Section for Preventive Medicine, University Medical Center, Albert Ludwigs University, 79106 Freiburg, Germany.

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http://dx.doi.org/10.1210/js.2017-00208DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5689150PMC
July 2017

Metabolomic analysis identifies differentially produced oral metabolites, including the oncometabolite 2-hydroxyglutarate, in patients with head and neck squamous cell carcinoma.

BBA Clin 2017 Jun 18;7:8-15. Epub 2016 Dec 18.

Center for Medical Mycology, Department of Dermatology, Case Western Reserve University, University Hospitals Case Medical Center, Cleveland, OH, United States.

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http://dx.doi.org/10.1016/j.bbacli.2016.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5199158PMC
June 2017

Clinical Implications for Germline PTEN Spectrum Disorders.

Endocrinol Metab Clin North Am 2017 06 18;46(2):503-517. Epub 2017 Mar 18.

Genomic Medicine Institute, Cleveland Clinic, 9500 Euclid Avenue, NE-50, Cleveland, OH 44195, USA; Lerner Research Institute, Cleveland Clinic, 9500 Euclid Avenue, NE-50, Cleveland, OH 44195, USA; Taussig Cancer Institute, Cleveland Clinic, 9500 Euclid Avenue, NE-50, Cleveland, OH 44195, USA; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, 10900 Euclid Avenue, Cleveland, OH 44106, USA; Germline High Risk Focus Group, CASE Comprehensive Cancer Center, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH 44106, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ecl.2017.01.013DOI Listing
June 2017

Thyroglobulin in Metastatic Thyroid Cancer: Culprit or Red Herring?

Am J Hum Genet 2017 Mar;100(3):562-563

Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA; Germline High Risk Focus Group, CASE Comprehensive Cancer Center, Case Western Reserve University, Cleveland, OH 44106, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.01.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5339110PMC
March 2017

Reply to G. Le Flahec et al.

J Clin Oncol 2017 01 24;35(3):377. Epub 2016 Oct 24.

Joanne Ngeow, National Cancer Centre Singapore; Duke-National University of Singapore Medical School, Singapore; and Cleveland Clinic, Cleveland, OH; and Charis Eng, Cleveland Clinic; and Case Western Reserve University, Cleveland, OH.

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http://ascopubs.org/doi/10.1200/JCO.2016.69.9405
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http://dx.doi.org/10.1200/JCO.2016.69.9405DOI Listing
January 2017

Gut microbiome and chronic prostatitis/chronic pelvic pain syndrome.

Ann Transl Med 2017 Jan;5(2):30

Glickman Urological & Kidney Institute, Cleveland Clinic, Cleveland, OH, USA.

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http://dx.doi.org/10.21037/atm.2016.12.32DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5300850PMC
January 2017

Germline PTEN Mutation Analysis for PTEN Hamartoma Tumor Syndrome.

Methods Mol Biol 2016 ;1388:63-73

Genomic Medicine Institute, Cleveland Clinic, 9500 Euclid Avenue, NE-50, Cleveland, OH, 44195, USA.

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http://dx.doi.org/10.1007/978-1-4939-3299-3_6DOI Listing
December 2016

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

Cold Spring Harb Mol Case Stud 2016 11;2(6):a001230

Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA;; Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA;; Taussig Cancer Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA;; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA;; CASE Comprehensive Cancer Center, Case Western Reserve University, Cleveland, Ohio 44106, USA;; Germline High Risk Focus Group, CASE Comprehensive Cancer Center, Case Western Reserve University, Cleveland, Ohio 44106, USA.

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http://dx.doi.org/10.1101/mcs.a001230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5111001PMC
November 2016

Lessons learnt from outstanding mid-career women in endocrine cancer research.

Endocr Relat Cancer 2016 11;23(11):E5-E7

Genomic Medicine InstituteCleveland Clinic, Cleveland, Ohio, USA.

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http://dx.doi.org/10.1530/ERC-16-0406DOI Listing
November 2016

Analysis of Gut Microbiome Reveals Significant Differences between Men with Chronic Prostatitis/Chronic Pelvic Pain Syndrome and Controls.

J Urol 2016 Aug 27;196(2):435-41. Epub 2016 Feb 27.

Genomic Medicine Institute, Cleveland, Ohio; Cleveland Clinic Lerner College of Medicine, Cleveland, Ohio; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, Ohio.

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http://dx.doi.org/10.1016/j.juro.2016.02.2959DOI Listing
August 2016

Reply.

Urology 2016 08 29;94:316. Epub 2016 Apr 29.

Cleveland Clinic Foundation, Glickman Urological Institute, Cleveland, OH.

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http://dx.doi.org/10.1016/j.urology.2016.04.029DOI Listing
August 2016

HABP2 in Familial Non-medullary Thyroid Cancer: Will the Real Mutation Please Stand Up?

J Natl Cancer Inst 2016 Jun 1;108(6):djw013. Epub 2016 Feb 1.

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http://dx.doi.org/10.1093/jnci/djw013DOI Listing
June 2016

The Urinary Microbiome Differs Significantly Between Patients With Chronic Prostatitis/Chronic Pelvic Pain Syndrome and Controls as Well as Between Patients With Different Clinical Phenotypes.

Urology 2016 06 9;92:26-32. Epub 2016 Mar 9.

Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195; Cleveland Clinic Lerner College of Medicine, Cleveland Clinic, Cleveland, OH 44195; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH 44106.

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http://dx.doi.org/10.1016/j.urology.2016.02.043DOI Listing
June 2016

Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome.

J Clin Oncol 2016 06 25;34(18):2172-81. Epub 2016 Apr 25.

Sarah M. Nielsen and Lindsay Rhodes, The University of Chicago, Chicago, IL; Ignacio Blanco, Hospital Universitari Germans Trias i Pujol, UAB - Universitat Autònoma de Barcelona, Barcelona, Spain; Wendy K. Chung, Columbia University, New York, NY; Charis Eng, Cleveland Clinic; Charis Eng, Case Western Reserve University School of Medicine, Cleveland, OH; Eamonn R. Maher, University of Cambridge and Cambridge NIHR Biomedical Research Centre, Cambridge, United Kingdom; Stéphane Richard, Réseau National pour Cancers Rares de l'Adulte PREDIR, INCa/AP-HP, Hôpital Bicêtre, Le Kremlin Bicêtre; Stéphane Richard, INSERM U1186, Gustave Roussy Cancer Campus, Villejuif, France; Rachel H. Giles, University Medical Center Utrecht, Regenerative Medicine Center Utrecht, Utrecht; and Rachel H. Giles, Dutch VHL Patient Organization, Gouda, the Netherlands.

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http://dx.doi.org/10.1200/JCO.2015.65.6140DOI Listing
June 2016

Mismatch Repair Deficiency in Colorectal Cancers: Is Somatic Genomic Testing the Grab-Bag for All Answers?

J Clin Oncol 2016 06 9;34(18):2085-7. Epub 2016 May 9.

Cleveland Clinic, Cleveland OH, Case Western Reserve University, Cleveland, OH

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http://dx.doi.org/10.1200/JCO.2016.66.7766DOI Listing
June 2016

Erratum to: Cytoplasm-predominant Pten associates with increased region-specific brain tyrosine hydroxylase and dopamine D2 receptors in mouse model with autistic traits.

Mol Autism 2016 3;7:14. Epub 2016 Feb 3.

Genomic Medicine Institute, Cleveland Clinic, 9500 Euclid Avenue, Mailstop NE-50, Cleveland, OH 44195 USA ; Lerner Research Institute, Cleveland Clinic, Cleveland, OH USA ; HHMI Graduate Program, Department of Molecular Medicine, Cleveland Clinic Lerner College of Medicine, Cleveland Clinic Lerner College of Medicine, Case Western Reserve University School of Medicine, Cleveland, OH USA ; Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH USA ; Stanley Shalom Zielony Institute of Nursing Excellence, Cleveland Clinic, Cleveland, OH USA ; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH USA ; CASE Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, OH USA.

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http://dx.doi.org/10.1186/s13229-016-0075-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4739326PMC
February 2016

Hormone replacement therapy after menopause and risk of breast cancer in BRCA1 mutation carriers: a case-control study.

Breast Cancer Res Treat 2016 Jan 16;155(2):365-73. Epub 2016 Jan 16.

Women's College Research Institute, Women's College Hospital, 76 Grenville Street, 6th Floor, Toronto, ON, M5S 1B2, Canada.

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http://dx.doi.org/10.1007/s10549-016-3685-3DOI Listing
January 2016