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Office
101 Manning Dr
Chapel Hill, NC 27514Phone+1 919-966-6759Fax+1 919-843-6949- Is this information wrong?
Education & Training
- Stanford Health Care-Sponsored Stanford UniversityResidency, Pathology-Anatomic and Clinical, 2008 - 2012
- Stanford Health Care-Sponsored Stanford UniversityResidency, Pathology-Anatomic and Clinical, 2005 - 2007
- University of North Carolina School of Public HealthPh.D., Genetics, 1996 - 2005
- University of North Carolina at Chapel Hill School of MedicineClass of 2005
- University of North Carolina at Chapel HillB.S., Biology, Highest Honors, 1992 - 1996
Certifications & Licensure
- NC State Medical License 2018 - 2025
- CA State Medical License 2006 - 2020
- American Board of Pathology Pathology - Clinical
- American Board of Pathology Pathology - Molecular Genetic
- American Board of Medical Genetics and Genomics Clinical Cytogenetics and Genomics
Awards, Honors, & Recognition
- Inspector Excellence College of American Pathologists Inspector Recognition Program, 2015
- Stanford Society of Physician Scholars 2010
- Alpha Omega Alpha Honor Medical Society 2004
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Clinical Trials
- Integrated Whole-Genome Analysis of Hematologic Disorders Start of enrollment: 2009 Sep 01
Publications & Presentations
PubMed
- 153 citationsThe impact of rare variation on gene expression across tissues.Xin Li, Yungil Kim, Emily K. Tsang, Joe R. Davis, Farhan N. Damani
Nature. 2017-10-12 - 40 citationsPartial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.Brett V. Johnson, Raman Kumar, Sabrina Oishi, Suzy Alexander, Maria Kasherman
Biological Psychiatry. 2020-01-15 - 180 citationsIdentification of rare-disease genes using blood transcriptome sequencing and large control cohortsLaure Fresard, Craig Smail, Nicole M. Ferraro, Nicole A. Teran, Xin Li
Nature Medicine. 2019-06-03
Journal Articles
- Efficacy and safety of midostaurin in patients with advanced systemic mastocytosis: 10-year median follow-up of a phase II trialDeAngelo DJ, George TI, Linder A, Langford C, Perkins C, Ma J, Westervelt P, Merker JD, Berube C, Coutre S, Liedtke M, Medeiros B, Sternberg D, Dutreix C, Ruffie PA, C..., Leukemia, 1/1/2018
- Long-read genome sequencing identifies causal structural variation in a Mendelian diseaseMerker JD, Wenger AM, Sneddon T, Grove M, Zappala Z, Fresard L, Waggott D, Utiramerur S, Hou Y, Smith KS, Montgomery SB, Wheeler M, Buchan JG, Lambert CC, Eng KS, Hick..., Genet Med, 1/1/2018
- ClinGen Cancer Somatic Working Group - standardizing and democratizing access to cancer molecular diagnostic data to drive translational researchMadhavan S, Ritter D, Micheel C, Rao S, Roy A, Sonkin D, McCoy M, Griffith M, Griffith OL, McGarvey P, Kulkarni S, on behalf of the ClinGen Somatic Working Group (Merk..., Pac Symp Biocomput, 1/1/2018
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Books/Book Chapters
Lectures
- How to select an NGS panelKing Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia - 1/21/2017
- NGS: CAP checklist and resourcesKing Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia - 1/21/2017
- Overview of NGS technology: possibilities and limitationsKing Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia - 1/21/2017
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Other
- Charting the Course for Precision Medicine: Adopting consensus analytical standards and streamlining approval pathways for post-market modifications for NGS tests in o...Contributors: Aisner D, Averbuch S, Duncan H, Ferris A, Flaherty KT, Iafrate AJ, Kalamegham R, Kowack E, Lasiter L, Merker J, Schneider E, Stewart M, Tanzella K, Thomae M, Friends of Cancer Research/Alexandria
1/1/2017 - Use of quantitative PCR in the monitoring of patients with chronic myelogenous leukemia.Merker JD, NewsPath
http://www.cap.org/apps/docs/newspath/0902/use_of_quantitative_pcr.pdf
College of American Pathologists - 1/1/2009 - Screening for Lynch syndrome by microsatellite instability analysis and immunohistochemistry.Merker JD, NewsPath
http://www.cap.org/apps/docs/newspath/0809/screening_for_lynch_syndrome.pdf
College of American Pathologists - 1/1/2008
Authored Content
- Proficiency Testing of Standardized Samples Shows High Interlaboratory Agreement for Clinical Next Generation Sequencing–Based Hematologic Malignancy Assays with Survey Material–Specific Differences in Variant FrequenciesJanuary 2020
- Proficiency Testing of Standardized Samples Shows High Interlaboratory Agreement for Clinical Next Generation Sequencing–Based Hematologic Malignancy Assays with Survey Material–Specific Differences in Variant FrequenciesJanuary 2020
Press Mentions
- Benchmarking Workflows to Assess Performance and Suitability of Germline Variant Calling Pipelines in Clinical Diagnostic AssaysFebruary 24th, 2021
- Liquid Biopsies Not Ready for Prime TimeMarch 5th, 2018
- Researchers Use Long-Read Genome Sequencing for First Time in a PatientJune 22nd, 2017
Hospital Affiliations
- University of North Carolina HospitalsChapel Hill, North Carolina
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