Charis Eng

Charis Eng

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

Epilepsy Behav 2019 May 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 May 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 Mar 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

PTEN Mutations Trigger Resistance to Immunotherapy.

Trends Mol Med 2019 Mar 27. 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
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 Feb 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 Apr 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

Breast cancer risk and clinical implications for germline PTEN mutation carriers.

Breast Cancer Res Treat 2017 Aug 23;165(1):1-8. Epub 2015 Dec 23.

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

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http://dx.doi.org/10.1007/s10549-015-3665-zDOI Listing
August 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://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

PTEN hamartoma tumor syndrome.

Handb Clin Neurol 2015 ;132:129-37

Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/B97804446270250
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http://dx.doi.org/10.1016/B978-0-444-62702-5.00009-3DOI Listing
August 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

Cancer-predisposition gene KLLN maintains pericentric H3K9 trimethylation protecting genomic stability.

Nucleic Acids Res 2016 05 15;44(8):3586-94. Epub 2015 Dec 15.

Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, Ohio 44106, USA Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio 44195, 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/10.1093/nar/gkv1481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4856962PMC
May 2016

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

Endocr Relat Cancer 2016 Mar 23;23(3):171-9. Epub 2015 Dec 23.

Section of Hematology/OncologyDepartment of Medicine, The University of Chicago, Chicago, Illinois 60637, USAGenomic Medicine InstituteCleveland Clinic, Cleveland, Ohio 44195, USADepartment of Genetics and Genome SciencesComprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USAEndocrine Surgery Research ProgramSection of General Surgery, Department of Surgery, The University of Chicago, 5841 S Maryland Avenue, Chicago, Illinois 60637, USA

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http://dx.doi.org/10.1530/ERC-15-0359DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5152685PMC
March 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

Rectal Cancer: Age Matters in the Affairs of Stage.

J Natl Cancer Inst 2016 Jan;108(1)

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http://dx.doi.org/10.1093/jnci/djv325DOI Listing
January 2016

Precision medicine in heritable cancer: when somatic tumour testing and germline mutations meet.

NPJ Genom Med 2016 13;1:15006. Epub 2016 Jan 13.

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

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http://dx.doi.org/10.1038/npjgenmed.2015.6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685292PMC
January 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

ACG Guidelines on Management of PTEN-Hamartoma Tumor Syndrome: Does the Evidence Support so Much so Young?

Am J Gastroenterol 2015 Dec;110(12):1733-4

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

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http://dx.doi.org/10.1038/ajg.2015.368DOI Listing
December 2015

KLLN epigenotype-phenotype associations in Cowden syndrome.

Eur J Hum Genet 2015 Nov 11;23(11):1538-43. Epub 2015 Feb 11.

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

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http://dx.doi.org/10.1038/ejhg.2015.8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613489PMC
November 2015

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

Am J Hum Genet 2015 Nov 29;97(5):661-76. Epub 2015 Oct 29.

Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA; 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; CASE Comprehensive Cancer Center, Case Western Reserve University, Cleveland, OH 44106, USA. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(15)00403-6.pdf
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http://www.cell.com/cms/attachment/2039645421/2053235341/mmc
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500403
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http://dx.doi.org/10.1016/j.ajhg.2015.10.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4667132PMC
November 2015

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

Mol Autism 2015 17;6:63. Epub 2015 Nov 17.

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, 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/s13229-015-0056-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4647625PMC
November 2015

New Genetic and Genomic Approaches After the Genome-wide Association Study Era--Back to the Future.

Gastroenterology 2015 Oct 12;149(5):1138-41. Epub 2015 Jun 12.

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

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http://dx.doi.org/10.1053/j.gastro.2015.05.060DOI Listing
October 2015

Exome Sequencing Reveals Germline SMAD9 Mutation That Reduces Phosphatase and Tensin Homolog Expression and Is Associated With Hamartomatous Polyposis and Gastrointestinal Ganglioneuromas.

Gastroenterology 2015 Oct 26;149(4):886-9.e5. Epub 2015 Jun 26.

Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio; Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio; Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio; CASE Comprehensive Cancer Center, Case Western Reserve University, Cleveland, Ohio; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, Ohio. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2015.06.027DOI Listing
October 2015

Quantitative autism symptom patterns recapitulate differential mechanisms of genetic transmission in single and multiple incidence families.

Mol Autism 2015 27;6:58. Epub 2015 Oct 27.

Genomic Medicine Institute, Taussig Cancer Institute, and Stanley Shalom Zielony Institute of Nursing Excellence, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195 USA.

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http://dx.doi.org/10.1186/s13229-015-0050-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4623917PMC
October 2015

RET Y791F Variant Does Not Increase the Risk for Medullary Thyroid Carcinoma.

Thyroid 2015 Aug 12;25(8):973-4. Epub 2015 Jun 12.

1 Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, University of São Paulo School of Medicine , São Paulo, Brazil .

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http://dx.doi.org/10.1089/thy.2015.0168DOI Listing
August 2015

Association of specific PTEN/10q haplotypes with endometrial cancer phenotypes in African-American and European American women.

Gynecol Oncol 2015 Aug 28;138(2):434-40. Epub 2015 May 28.

Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA; Lerner College of Medicine, Cleveland Clinic, Cleveland, OH 44195, USA; Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH 44195, USA; Department of Genetics and Genome Sciences, CASE Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, OH 44116, USA; Germline High Risk Focus Group, CASE Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, OH 44116, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ygyno.2015.05.024DOI Listing
August 2015

Detecting Germline PTEN Mutations Among At-Risk Patients With Cancer: An Age- and Sex-Specific Cost-Effectiveness Analysis.

J Clin Oncol 2015 Aug 13;33(23):2537-44. Epub 2015 Jul 13.

Joanne Ngeow, Charis Eng, Cleveland Clinic; Charis Eng, Case Western Reserve University and School of Medicine, Cleveland, Ohio; Joanne Ngeow, National Cancer Centre; Joanne Ngeow, Chang Liu, Ke Zhou, David B. Matchar, Duke-NUS Graduate Medical School, Singapore; and Kevin D. Frick, The Johns Hopkins Carey Business School, Baltimore, MD

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http://ascopubs.org/doi/10.1200/JCO.2014.60.3456
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http://dx.doi.org/10.1200/JCO.2014.60.3456DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4525048PMC
August 2015

Missense mutation in the PTEN promoter of a patient with hemifacial hyperplasia.

Bonekey Rep 2015 29;4:654. Epub 2015 Jul 29.

Childrens Hospital Los Angeles , Los Angeles, CA, USA ; Center for Craniofacial Molecular Biology, University of Southern California , Los Angeles, CA, USA ; Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health , Bethesda, MD , USA.

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http://dx.doi.org/10.1038/bonekey.2015.21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520444PMC
August 2015

Balancing Proliferation and Connectivity in PTEN-associated Autism Spectrum Disorder.

Neurotherapeutics 2015 Jul;12(3):609-19

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

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http://dx.doi.org/10.1007/s13311-015-0356-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489960PMC
July 2015

PTEN hamartoma tumor syndrome: clinical risk assessment and management protocol.

Methods 2015 May 22;77-78:11-9. Epub 2014 Oct 22.

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

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http://dx.doi.org/10.1016/j.ymeth.2014.10.011DOI Listing
May 2015

Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice.

J Clin Endocrinol Metab 2015 May 19;100(5):E710-9. Epub 2015 Feb 19.

Section on Endocrinology and Genetics (P.X., E.S., S.A.M., P.M., M.R., N.R., M.d.L.L.S., C.L., E.B., M.L., C.A.S.), Program on Developmental Endocrinology and Genetics, Section on Medical Neuroendocrinology (P.B., A.G.), Program in Reproductive and Adult Endocrinology, Section on Molecular Dysmorphology (C.A.W., A.C.), Program in Developmental Endocrinology and Genetics, Microscopy and Imaging Core (L.D.), Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Laboratory of Pathology (A.G., M.Q., K.P.), National Cancer Institute, and Biostatistics and Clinical Epidemiology Service (D.K.), Clinical Center, National Institutes of Health, Bethesda, Maryland 20892; Department of Endocrinology (C.M.), University of Connecticut Health Center, Farmington, Connecticut 06030; Genomic Medicine Institute (J.M., C.E.), Cleveland Clinic, Cleveland, Ohio 44195; Department of Biochemistry and Molecular Biology (L.J.M.), Mayo Clinic College of Medicine, Rochester, Minnesota 55905; and Department of Molecular Medicine (P.B.), Institute of Virology, Slovak Academy of Sciences, 833 06 Bratislava, Slovakia.

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http://dx.doi.org/10.1210/jc.2014-4297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422891PMC
May 2015

A registry-based study of thyroid paraganglioma: histological and genetic characteristics.

Endocr Relat Cancer 2015 Apr 16;22(2):191-204. Epub 2015 Jan 16.

Section of Endocrine SurgeryDepartment of General, Visceral and Thoracic Surgery, Krankenhaus Reinbek, St. Adolf Stift, Academic Teaching Hospital University of Hamburg, Reinbek, GermanyDepartment of PathologyHelsinki University Central Hospital and University of Helsinki, Helsinki, FinlandDivision of EndocrinologyDepartment of Medicine, Helsinki University Central Hospital and University of Helsinki, Helsinki, FinlandFamilial Cancer Clinic and Onco-EndocrinologyVeneto Institute of Oncology, IRCCS, Padova, ItalyDepartment of Endocrine SurgeryUniversity of Bergen, Bergen, NorwayDepartment of HypertensionInstitute of Cardiology, Warsaw, PolandEndocrinologyDiabetes and Metabolism, University of Verona and Azienda Ospedaliera Universitaria Integrata Verona, Verona, ItalyUnits of Internal MedicineSanta Chiara General Hospital, Trento, ItalyDepartment of Internal MedicineGeneral Hospital, Montebelluna, Treviso, ItalyDepartment of Nuclear Medicine and Endocrine OncologyMaria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice Branch, Gliwice, PolandDepartment of Pathology and Laboratory DiagnosticsSkłodowska-Curie Memorial Institute of Oncology, Warsaw, PolandSection for Preventive MedicineDepartment of Nephrology and General Medicine, Albert-Ludwigs-University of Freiburg, Hugstetter Straße 55, 79106 Freiburg, GermanySection for PathologyDepartment of Clinical Medicine, Centre for Cancer Biomarkers CCBIO, University of Bergen, Bergen, NorwayDepartment of Tumor PathologyM.Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice Branch, Gliwice, PolandSurgical Pathology and Cytopathology UnitDepartment of Medicine, DIMED, University of Padova, Padova, ItalyDepartment of PathologySanta Chiara Regional Hospital, Trento, ItalyDepartment of PathologyMarienkrankenhaus, Hamburg, GermanyDepartment of GastroenterologyAlbert-Ludwigs-University of Freiburg, Freiburg, GermanyDepartment of EndocrinologyLa Timone Hospital, Hopitaux de Marseille

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http://dx.doi.org/10.1530/ERC-14-0558DOI Listing
April 2015

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

Cancer Epidemiol Biomarkers Prev 2015 Apr 18;24(4):708-12. Epub 2015 Jan 18.

Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio. Department of Bioethics, Cleveland Clinic, Cleveland, Ohio. Department of Bioethics, Case Western Reserve University, Cleveland, Ohio. Center for Clinical Investigation, Case Western Reserve University, Cleveland, Ohio. Biomedical Ethics Program, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1158/1055-9965.EPI-13-1375DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4383666PMC
April 2015

Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancer.

Endocr Relat Cancer 2015 Apr;22(2):121-30

Genomic Medicine InstituteLerner Research InstituteTaussig Cancer InstituteStanley Shalom Zielony Nursing InstituteCleveland Clinic, 9500 Euclid Avenue, NE-50, Cleveland, Ohio 44195, USADivision of Medical OncologyNational Cancer Center, Singapore 169610, SingaporeDivisions of Human GeneticsEndocrinology and MetabolismDepartment of MedicineComprehensive Cancer CenterArthur G. James Cancer Hospital and Richard G. Solove Research Institute, The Ohio State University, Columbus, Ohio 43210, USADepartments of Genetics and Genome SciencesEpidemiology and BiostatisticsCASE Comprehensive Cancer CenterCase Western Reserve University, Cleveland, Ohio 44116, USA Genomic Medicine InstituteLerner Research InstituteTaussig Cancer InstituteStanley Shalom Zielony Nursing InstituteCleveland Clinic, 9500 Euclid Avenue, NE-50, Cleveland, Ohio 44195, USADivision of Medical OncologyNational Cancer Center, Singapore 169610, SingaporeDivisions of Human GeneticsEndocrinology and MetabolismDepartment of MedicineComprehensive Cancer CenterArthur G. James Cancer Hospital and Richard G. Solove Research Institute, The Ohio State University, Columbus, Ohio 43210, USADepartments of Genetics and Genome SciencesEpidemiology and BiostatisticsCASE Comprehensive Cancer CenterCase Western Reserve University, Cleveland, Ohio 44116, USA Genomic Medicine InstituteLerner Research InstituteTaussig Cancer InstituteStanley Shalom Zielony Nursing InstituteCleveland Clinic, 9500 Euclid Avenue, NE-50, Cleveland, Ohio 44195, USADivision of Medical OncologyNational Cancer Center, Singapore 169610, SingaporeDivisions of Human GeneticsEndocrinology and MetabolismDepartment of MedicineComprehensive Cancer CenterArthur G. James Cancer Hospital and Richard G. Solove Research Institute, The Ohio State University, Columbus, Ohio 43210, USADepartments of Genetics and Genome SciencesEpidemiology and BiostatisticsCASE Comprehensive Cancer CenterCase Western Reserve University, Cleveland, Ohio 44116, USA Genomic Medicine Ins

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https://erc.bioscientifica.com/view/journals/erc/22/2/121.xm
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http://dx.doi.org/10.1530/ERC-14-0537DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4335266PMC
April 2015

Transient abnormal myelopoiesis of a newborn not associated with chromosome 21 abnormalities or GATA1 mutations.

Pediatr Blood Cancer 2015 02 30;62(2):353-355. Epub 2014 Aug 30.

Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, 44195, Ohio.

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http://dx.doi.org/10.1002/pbc.25226DOI Listing
February 2015

Pulmonary arterial hypertension in a patient with Cowden syndrome and the PTEN mutation.

Pulm Circ 2014 Dec;4(4):728-31

Respiratory Institute, Cleveland Clinic, Cleveland, Ohio, USA.

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http://dx.doi.org/10.1086/678552DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4278632PMC
December 2014

Formative evaluation of clinician experience with integrating family history-based clinical decision support into clinical practice.

J Pers Med 2014 Mar 26;4(2):115-36. Epub 2014 Mar 26.

Center for Personalized Healthcare, Medicine Institute, Cleveland Clinic, 9500 Euclid Ave., Cleveland, OH 44195, USA.

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http://www.mdpi.com/2075-4426/4/2/115
Publisher Site
http://dx.doi.org/10.3390/jpm4020115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4263968PMC
March 2014