Jessie Reynoso, MD

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Jessie Reynoso, 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)

Education and Training

Medical School

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


Pediatrics Resident, Lincoln Medical and Mental Health Center, Cornell University, Bronx, NY 


Medical Genetics Fellowship, Children’s Hospital of Philadelphia, Philadelphia, PA

Board Certification

American Board of Medical Genetics and Genomics
American Board of Pediatrics

Titles and Academic Titles

Attending Physician

Departments and Services

Selected Publications


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


Posters and Presentations

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

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

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

“Genetic testing 101 for the General Pediatrician” “A Genetics Approach to the Child with Intellectual disability” Joe DiMaggio Children’s Hospital Grand Rounds

“Clinical Genetics in the Era of Whole Exome and Genome Sequencing”, June 2017

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

Glycobiology World Congress, August 10th 2015. Philadelphia, PA “The clinical phenotype of PIGN deficiency and consequences of defective GPI anchor Biogenesis” 36th David W. Smith Workshop on Malformations and Morphogenesis. August 18th 2015. Maryland “Expanding the phenotype of mutations in PIGN

Leadership and Memberships

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