Jessie Reynoso Santos, MD

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Jessie Reynoso Santos, MD, is an attending physician with the Metabolic Disease Program and Division of Human Genetics at Children's Hospital of Philadelphia.

Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)


Dr. Jessie Reynoso is a board-certified clinical geneticist. She completed her Medical Genetics and Genomics training at the Children’s Hospital of Philadelphia. Her areas of interests include Neurodevelopmental disorders, Inborn Errors of Metabolism, genetics of immunodeficiency syndromes and 22q11.2 chromosome differences. Dr. Reynoso is also passionate about healthcare innovation and technology.

Education and Training

Medical School

MD - Universidad Catolica Nordestana, San Francisco de Macoris, Dominican Republic


Pediatrics - Lincoln Medical and Mental Health Center, Cornell University, Bronx, NY (Chief Resident)


Medical Genetics Fellowship - Children’s Hospital of Philadelphia, Philadelphia, PA
Medical Genetics and Genomics Academic Research Fellowship - Children’s Hospital of Philadelphia, Philadelphia, PA

Board Certification

Clinical Genetics and Genomics – American Board of Medical Genetics and Genomics
Pediatrics – American Board of Pediatrics

Titles and Academic Titles

Attending Physician

Departments and Services




Eduardo Calpena, et al ,Francis Jeshira Reynoso Santos: De Novo Missense Substitutions in the Gene encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. AJHG Volume 104, Issue 4, 2019.

Diana Le Duc, et al, Francis Jeshira Reynoso Santos: Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size. Brain, Volume 142, Issue 9, Sept 2019


Sharma S, Kalish, J, Reynoso FJ, Pradhan M. 2016. An atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy. Reports in Nephrology Volume 2016. Article ID 3181676.


Li, X., Raihan, M.A., Reynoso, F.J., and He, M. 2015. Glycosylation analysis for Congenital disorders of glycosylation. Curr. Protoc. Hum. Genet. 86:17.18.1-17.18.22.


Gonzalez Della Valle A, Reynoso FJ, Ben Ari J, Salvati E. 2009 . The Multimodal Approach for the Prevention of Thromboembolic Disease after Total Joint Arthroplasty. Seminars in Arthroplasty. Vol 20, Issue 4.



Rebecca Ganetzky, Francis J Reynoso, Miao He: "Biomarkers for congenital disorders of Glycosylation" Biomarkers in inborn errors of metabolism. Garg Uttam (eds.). Elsevier, 2016

Posters and Presentations


Reynoso FJ. “Multidisciplinary care for patients with 22q11.2 deletion syndrome, one year 2qq clinic experience”, August 2019


Reynoso FJ. 22q Network of the Americas Inaugural Meeting: April of 2018, Children’s Hospital of Philadelphia (CHOP), Philadelphia, PA

Reynoso FJ. “The 22q Multidisciplinary Clinic at Joe DiMaggio Children’s Hospital” South Florida Genetics Group Meeting, August 2018, Miami FL

Reynoso FJ. “Multidisciplinary care for patients with 22q11.2 Deletion syndrome” JDCH 29th Annual Pediatric Symposium, November 2018, Hollywood, FL

Awards and Honors

2006, Magna Cum Laude, Universidad Católica Nordestana, San Francisco de Macorís, Dominican Republic

Leadership and Memberships

Memberships in Professional Organizations

American College of Medical Genetics (ACMG)
American Academy of Pediatrics (AAP)
American Medical Association (AMA)
22q11.2 Society
22q Network of the Americas
22q South Florida Advisory Board