Jennifer E Posey, M.D.

Pediatrics
Clinical Genetics and Genomics (MD)

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Overview

Jennifer Posey, MD, PhD, is the chief of the Division of Clinical Genetics in the Department of Pediatrics and the inaugural chief genomics officer of Columbia University Irving Medical Center (CGO-CUIMC). She received her MD and PhD degrees from Baylor College of Medicine. After completing her residency in medicine at Columbia, she served as faculty and an attending physician for 10 years at Baylor College of Medicine in the Department of Molecular and Human Genetics. Her professional interests focus on medical genetics and research genetics. She has an interest in pediatric clinical genetics and genomic medicine. She is the recipient of a number of prestigious awards including the American Society for Human Genetics Early Career Award and the American Society for Clinical Investigation Young Physician-Scientist Award. She is widely recognized for her 2017 New England Journal of Medicine paper, “Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation,” which opened the door to the next wave of genetic disease explanation and etiology.

Academic Appointments

  • Associate Professor of Pediatrics and Medicine at CUMC

Administrative Titles

  • Chief, Division of Clinical Genetics, Department of Pediatrics
  • Chief Genomics Officer, Columbia University Irving Medical Center

Gender

  • Female

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Insurance Accepted

Aetna

  • Aetna Signature Administrators
  • EPO
  • HMO
  • Medicare Managed Care
  • NY Signature
  • POS
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  • Student Health

Affinity Health Plan

  • Essential Plan
  • Medicaid Managed Care

Amida Care

  • Special Needs

Cigna

  • EPO
  • Great West (National)
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Emblem/GHI

  • Medicare Managed Care
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Emblem/HIP

  • ConnectiCare
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  • Essential Plan
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  • Medicaid Managed Care
  • Medicare Managed Care
  • POS
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  • Select Care (Exchange)
  • Vytra

Empire Blue Cross/Blue Shield

  • EPO
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  • Medicare Managed Care
  • PPO

Empire Blue Cross Blue Shield HealthPlus

  • Child/Family Health Plus
  • Essential Plan
  • Medicaid Managed Care

Fidelis Care

  • Child/Family Health Plus
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  • Medicaid Managed Care
  • Medicare Managed Care

Healthfirst

  • Child/Family Health Plus
  • Leaf (Exchange)
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  • Medicare Managed Care

Local 1199

  • Local 1199
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MagnaCare (National)

  • MagnaCare

Medicare

  • Traditional Medicare

Multiplan

  • Multiplan

MVP Health Care

  • Child/Family Health Plus
  • Essential Plan
  • HMO
  • Medicaid Managed Care

RiverSpring

  • Special Needs

UnitedHealthcare

  • Compass (Exchange)
  • Empire Plan
  • HMO
  • Medicaid (Community Plan)
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  • Oxford Freedom
  • Oxford HMO
  • Oxford Liberty
  • POS
  • PPO

VNSNY CHOICE

  • Medicare Managed Care
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WellCare

  • Medicaid Managed Care
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World Trade Center Health Plan

  • World Trade Center Health Plan

*Before your appointment, please contact the doctor’s office or your insurance provider to verify that your insurance is accepted. This list of insurances can change, and the insurance plans listed may not be accepted at all office locations for this provider.

Credentials & Experience

Education & Training

  • MD, Baylor College of Medicine
  • BA, Biology, University of Texas at Austin
  • PhD, Human and Molecular Genetics, Baylor College of Medicine
  • Residency: NewYork-Presbyterian / Columbia University Irving Medical Center
  • Fellowship: Baylor College of Medicine

Committees, Societies, Councils

  • American Society of Human Genetics
  • American College of Physicians
  • American College of Medical Genetics
  • Dean's Scholars Program, University of Texas at Austin

Board Certifications

  • Clinical Genetics and Genomics

Honors & Awards

  • Early Career Award, American Society for Human Genetics
  • Young Physician-Scientist Award, American Society for Clinical Investigation
  • Chao Physician-Scientist Award, Ting Tsung and Wei Fong Chao Foundation
  • "That's the Way" Award, Baylor College of Medicine

Research

Research Interests

  • Clinical Genetics
  • Genetics
  • Genomics

Selected Publications

  1. Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 Jan 5;376(1):21-31. doi: 10.1056/NEJMoa1516767. Epub 2016 Dec 7. PMID: 27959697; PMCID: PMC5335876.
  2. Assia Batzir N, Posey JE, Song X, Akdemir ZC, Rosenfeld JA, Brown CW, Chen E, Holtrop SG, Mizerik E, Nieto Moreno M, Payne K, Raas-Rothschild A, Scott R, Vernon HJ, Zadeh N; Baylor-Hopkins Center for Mendelian Genomics; Lupski JR, Sutton VR. Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). Am J Med Genet A. 2020 Jan;182(1):38-52. doi: 10.1002/ajmg.a.61380. Epub 2019 Nov 29. PMID: 31782611; PMCID: PMC7713511.
  3. Assia Batzir N, Kishor Bhagwat P, Larson A, Coban Akdemir Z, Bag?aj M, Bofferding L, Bosanko KB, Bouassida S, Callewaert B, Cannon A, Enchautegui Colon Y, Garnica AD, Harr MH, Heck S, Hurst ACE, Jhangiani SN, Isidor B, Littlejohn RO, Liu P, Magoulas P, Mar Fan H, Marom R, McLean S, Nezarati MM, Nugent KM, Petersen MB, Rocha ML, Roeder E, Smigiel R, Tully I, Weisfeld-Adams J, Wells KO; Baylor-Hopkins Center for Mendelian Genomics; Posey JE, Lupski JR, Beaudet AL, Wangler MF. Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 2020 Mar;41(3):641-654. doi: 10.1002/humu.23960. Epub 2019 Dec 19. PMID: 31769566; PMCID: PMC7720429.
  4. Hansen AW, Murugan M, Li H, Khayat MM, Wang L, Rosenfeld J, Andrews BK, Jhangiani SN, Coban Akdemir ZH, Sedlazeck FJ, Ashley-Koch AE, Liu P, Muzny DM; Task Force for Neonatal Genomics; Davis EE, Katsanis N, Sabo A, Posey JE, Yang Y, Wangler MF, Eng CM, Sutton VR, Lupski JR, Boerwinkle E, Gibbs RA. A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 Nov 7;105(5):974-986. doi: 10.1016/j.ajhg.2019.09.027. Epub 2019 Oct 24. PMID: 31668702; PMCID: PMC6849092.
  5. Herman I, Jolly A, Du H, Dawood M, Abdel-Salam GMH, Marafi D, Mitani T, Calame DG, Coban-Akdemir Z, Fatih JM, Hegazy I, Jhangiani SN, Gibbs RA, Pehlivan D, Posey JE, Lupski JR. Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses. Am J Med Genet A. 2022 Mar;188(3):735-750. doi: 10.1002/ajmg.a.62565. Epub 2021 Nov 23. PMID: 34816580; PMCID: PMC8837671.

For a complete list of publications, please visit PubMed.gov