Jennifer M. Kalish, MD, PhD

Jennifer M. Kalish, MD, PhD

Jennifer M. Kalish, MD, PhD, is a pediatric geneticist at Children’s Hospital of Philadelphia, with special interest in Beckwith-Wiedemann syndrome and cancer predisposition

Areas of Expertise: Beckwith-Wiedemann syndrome, Cancer predisposition, Clinical genetics, Dysmorphology, Epigenetics, Epigenetic mosaicism, Hyperinsulinism, Overgrowth disorders, 11p overgrowth associated with hypoglycemia
Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)

Education and Training

Medical School

MD - Yale University, New Haven, CT


Pediatrics - The Children's Hospital of Philadelphia, Philadelphia, PA


Pediatrics & Genetics - The Children’s Hospital of Philadelphia, Philadelphia, PA (Chief Resident in Genetics)


Postdoctoral Fellow - Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA

Board Certification

Medical Genetics

Graduate Degree

PhD in Genetics - Yale University, New Haven, CT

MS in Translational Research - Institute for Translational Medicine and Therapeutics, University of Pennsylvania, Philadelphia, PA

Titles and Academic Titles

Attending Physician

Assistant Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania

Assistant Professor of Pediatrics in Genetics, Perelman School of Medicine at the University of Pennsylvania

Departments and Services




Davlin AS, Clarkin CM, Kalish JM. Beckwith-Wiedemann Syndrome: Partnership in the Diagnostic Journey of a Rare Disorder. Pediatrics. 2018 Feb; 141(2).


Duffy, Kelly A.,  Deardorff, Matthew A.,  Kalish, Jennifer M.: The utility of alpha-fetoprotein screening in Beckwith-Wiedemann syndrome. American Journal of Medical Genetics Part A Page: n/a-n/a, 2017.


Tong CC, Duffy KA, Chu DI, Weiss DA, Srinivasan AK, Canning DA, Kalish JM. Urological Findings in Beckwith-Wiedemann Syndrome With Chromosomal Duplications of 11p15.5: Evaluation and Management. Urology. 2017 Feb;100:224-227. doi: 10.1016/j.urology.2016.08.037. Epub 2016 Sep 7.

Sharma, S., Kalish, J.M., Goldberg, E.M., Reynoso, F.J., and Pradhan, M.: An atypical presentation of a male with oral-facial-digital syndrome Type 1 related ciliopathy. Case Reports in Nephrology doi:10.1155/2016/3181676. 2016, 2016.

Kalish JM and Deardorff MA. : Tumor screening in Beckwith-Wiedemann syndrome-To screen or not to screen?  Am J Med Genet Part A. 170A: 2261-2264, Sept 2016.

Kalish JM, Boodhansingh KE, Bhatti TR, Ganguly A, Conlin LK, Becker SA, Givler S, Mighion L, Palladino AA, Adzick NS, De León DD, Stanley CA, and Deardorff MA. Congenital Hyperinsulinism in Children with Paternal 11p Uniparental Isodisomy and Beckwith- Wiedemann Syndrome. J Med Genet, 2016, Jan: 53(1): 53–61. PMCID: PMC4740975

Ginart P*, Kalish JM*, Jiang C, Yu A, Bartolomei M, and Raj A. Visualizing allele-specific expression in single cells reveals epigenetic mosaicism in an H19 loss-of-imprinting mutant. Genes Dev, 2016, March: 30(5): 567-578


Edmondson A and Kalish JM. Overgrowth Syndromes. J Ped Genet,2015, 4(3): 136-143. 


Kalish JM, Conlin LK, Mostoufi-Moab S, Wilkens AB, Mulchandani S, Zelley K, Kowalski  M, Bhatti T, Russo P, Mattei P, Mackenzie WG, LiVolsi V, Nichols KE, Biegel JA,  Spinner NB, and Deardorff MA. Bilateral Pheochromocytomas, Hemihyperplasia, and  Subtle Somatic Mosaicism: The Importance of Detecting Low-level Uniparental  Disomy. Am J Med Genet A. 2013 May;161A(5):993-1001. doi: 10.1002/ajmg.a.35831. Epub 2013 Mar 26.

Kalish JM, Conlin LK, Bhatti T, Dubbs HA, Harris MC, Izumi K, Mostoufi-Moab S,  Mulchandani S, Saitta S, States L, Swarr D, Wilkens AB, Zackai E, Zelley K, Bartolomei  MS, Nichols KE, Palladino A, Spinner NB, and Deardorff MA. Clinical Features of Three  Girls with Mosaic Genome-Wide Paternal Uniparental Isodisomy. Am J Med Genet A. 2013 Aug;161A(8):1929-39. doi: 10.1002/ajmg.a.36045. Epub 2013 Jun 26.


Knauert* MP, Kalish* JM, Hegan DC, and Glazer PM.: Triplex-Stimulated Intermolecular Recombination at a Single-Copy Genomic Target  Molecular Therapy 14(3): 392-400, Sept 2006 Notes: *co-first author.


Kalish JM, Seidman MM, Weeks DL, and Glazer PM. : Triplex-induced recombination and repair in the pyrimidine motif  Nucleic Acids Research 33(11): 3492-3502, June 2005.



McKay E, Ruchelli E, Ganguly A, Ebrahimzadeh J, Richards-Yutz J, Seaver L, Bober M,Duker A, Deardorff MA, and Kalish JM.: Placental pathology in IMAGe syndrome associated with gain-of-function mutations in CDKN1C. Society for Pediatric Pathology, Seattle, WA (platform presented by collaborator)  March 2016.




Kalish JM and Zackai EH. : Genetic Syndromes Caused by Chromosomal Abnormalities. Comprehensive Pediatric Hospital Medicine, Second Edition.   Lisa Zaoutis and Vincent Chiang (eds.). E. McGraw-Hill. 2017.


Kalish JM. : Asymmetry and Hypertrophy.  Human Malformations and Related Anomalies, Third Edition. Roger E. Stevenson, Judith G. Hall, David B. Everman, and Benjamin S. Soloman (eds.). Oxford University Press, November 2015.


Nixdorff N, Goodman A, and Kalish J.: Immunodeficiency Diseases. The Five Minute Clinical Consult.  Williams and Wilkins Domino F. Lippincott (eds.). May 2013.


Kalish JM, Haldeman-Englert C, and Deardorff MA.: Genetics Syndromes.  Netter's Pediatrics.  Florin TA and Ludwig SM. (eds.). Elsevier Press, June 2011.

Haldeman-Englert C, Kalish JM, and Deardorff MA.: Disorders of Sexual Development Netter's Pediatrics. Edited by Florin TA and Ludwig SM (eds.). Elsevier Press, June 2011.

Posters and Presentations


Kalish JM, Ginart P, Duffy K, Yu A, Deardorff MA, States L, Raj A, and Bartolomei MS: Genetic and Epigenetic Mosaicism in Beckwith-Wiedemann Syndrome. Platform presentation at the 37th Annual David W. Smith Workshop, Lake Arrowhead, CA Sept 2016.


Schott AR, Valverde KD, Kalish JM, Lambert MP, Morrissette JJD, Emanuel BS, Zackai EH, and McDonald-McGinn DM.: Increased Prevalence of Malignancy in Twins with 22q11. 2 Deletion Syndrome. Poster presentation at American Society of Human Genetics, Baltimore, MD (given by collaborator) October 18-22 2015.

Kalish JM, Ebrahimzadeh J, Purrazzella J, Reichert S, Richards-Yutz J, Treece A, Khalek N, McKay E, Ganguly A, and Deardorff MA: Prenatal findings in Beckwith-Wiedemann Syndrome. Platform presentation at the 36th Annual David W. Smith Workshop, St. Michael's, MD August 2015.

Ginart P, Kalish J, Jiang C, Bartolomei M, and Raj A: Single cell analysis uncovers heritable monoallelic and biallelic expressing cell subpopulations in H19 loss of imprinting mutants.  Podium presentation at the Stochastic Physics in Biology Gordon Research Conference, Ventura, CA (given by collaborator)  January  2015.

Invited Lectures


Kalish JM, Ginart P, Duffy K, Yu A, Deardorff MA, Raj A, Bartolomei MS. Detecting Genetic and Epigenetic Mosaicism in Beckwith-Wiedemann Syndrome. Platform presentation at the 37th Annual David W. Smith Workshop, Lake Arrowhead, CA, Sep, 2016.

Kalish JM. "Beckwith-Wiedemann Syndrome: A Partnership between Patients, Families, and Physicians." BWS family Conference, Miami, FL, Jun, 2016.

Kalish JM. "Beckwith-Wiedemann Syndrome and Congenital Hyperinsulinism." Congenital Hypoglycemia Disorders Symposium, Philadelphia, PA, Apr, 2016.


Kalish JM. "Prenatal findings in Beckwith-Wiedemann Syndrome." 36th Annual David W. Smith Workshop, St. Michael's, MD, Aug, 2015.

Kalish JM. "Mosaicism, Symmetry, and Growth: Balance is Key." St. Jude Children's Research Hospital, Memphis, TN, Feb, 2015.

Awards and Honors

2014, John M. Opitz Young Investigator Award, American Journal of Medical Genetics

2014, Children's Hospital of Philadelphia Distinguished Trainee Award

2013-2015, Alex's Lemonade Stand Young Investigator Award

2013, Children's Hospital of Philadelphia Research Day Poster Award

2013-2015, Clinical and Translational Science Award, Institute for Translational Medicine and Therapeutics at the Perelman School of Medicine at the University of Pennsylvania

2013-2016, National Institutes of Health Pediatric Loan Repayment Program, National Cancer Institute

2012, Peter Duncan Fellow Award

2010-2013, Medical Genetics T-32 Training Fellowship Award

2007, Alpha Omega Alpha, Yale University

2007, Yale MD/PhD Alumni Award

1999-2007, Medical Scientist Training Program

1994, 53rd Westinghouse Science Talent Search, 8th place

Editorial and Academic Positions

Editorial positions

2016-present, Reviewer, PLoS ONE

2016-present, Reviewer, Journal of Perinatal Medicine

2016-present, Reviewer, European Journal of Cancer

2016-present, Reviewer, Pediatrics

2016-present, Reviewer, Clinical Genetics

2016-present, Reviewer, Journal of Pediatric Endocrinology and Metabolism

2016-present, Reviewer, Prenatal Diagnosis

2015-present, Reviewer, Clinical Epigenetics

2014–present, Editorial Board Member, Orphanet Journal of Rare Diseases

2014–present, Reviewer, American Journal of Medical Genetics

2012–present, Reviewer, Pediatric Emergency Care

Academic and Institutional Committees

2016-present, CHOP Institutional Biobanking Committee

2016-present, Division of Human Genetics, Scientific Review Committee

2016-present, BaSciK-GPS Committee

2016-present, St. Baldricks Foundation Grant Review Committee

Leadership and Memberships

Memberships in Professional Organizations

2016-present, American Association of Cancer Research

2013–present, American College of Medical Genetics

2007–present, American Medical Association

2007–present, American Academy of Pediatrics