Roman Yusupov, MD
Medical Director, Craniofacial Center
I am a clinical geneticist at Joe DiMaggio Children’s Hospital, where I care for newborns, infants, children, adolescents and adults with a variety of genetic concerns including congenital anomalies, developmental delays, autism and neurological disorders. I am also the medical director of the Craniofacial Center and the Marfan Clinic at Joe DiMaggio Children’s Hospital. The Craniofacial Clinic is the largest in Florida and the Marfan Clinic is the only center of its kind in the state.
Genetics today is at the forefront of medicine, and is impacting the way we diagnose, manage and treat patients. At Joe DiMaggio, we are using genetics to improve our understanding of complex conditions and using this knowledge to improve treatment options for patients of all ages.
Every patient I see is unique. I love the variety in my work and getting to help patients with all different medical concerns. While many specialties focus on one organ or part of the body, I get to look at the complete picture of a patient – who they are as a person, what their genes tell us about them and how their genetic make-up impacts their daily life. I look at myself as a detective who puts pieces of a puzzle together to get one complete picture of a patient, something that no other specialty really does. For me, every organ is important and is a clue to a potential diagnosis.
In addition to providing patient care, I also write medical articles on several genetic conditions, and present at national and international conferences.
Meet Dr. Yusupov
- State Univ Of Ny Syracuse College Of Medicine, 2003
- Schneider Childrens Hospital/Long Island Jewish, 2006, Pediatrics
American Board of Medical Genetics and Genomics-Clinical Genetics and Genomics
- President’s Service Award for Academic Achievement and Community Service, New York University, 1997
- The National Dean’s List, 1995-1996, 1994-1995
- Gold Coast Magazine “Top Doctors” award, 2017
- American College of Medical Genetics
- American Society of Human Genetics
- “Genotype and Neurocognitive Correlation in Apert Syndrome,” Departments of Plastic Surgery and Genetics, Children’s Hospital Boston, 2007-2009
- “Sudden Death in MCADD Despite Newborn Screening: Biochemical, Clinical and Psychosocial High-Risk Factors,” Children’s Hospital Boston, 2007-2009
- Yusupov R, Finegold DN, Naylor EW, Sahai I, Waisbren S, Levy HL. Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening. Mol Genet Metab. 2010 Sep;101(1):33-9. Epub 2010 Jun 9.
- Yusupov R, Roberts AE, Lacro RV, Sandstrom M, Ligon AH. Potocki-Lupski syndrome: an inherited dup(17)(p11.2p11.2) with hypoplastic left heart. Am J Med Genet A. 2011 Feb;155(2):367-71
- Fan YS, Ouyang X, Peng J, Sacharow S, Tekin M, Barbouth D, Bodamer O, Yusupov R, Christina Navarrete, Heller AH, DJ Pena S. Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray. Mol Cytogenet. 2013 Sep 20;6(1):38.
- Vece TJ, Sagel SD, Zariwala MA, Sullivan KM, Burns KA, Dutcher SK, Yusupov R, Leigh MW, Knowles MR. Cytoplasmic “ciliary inclusions” in Isolation Are Not Sufficient for the Diagnosis of Primary Ciliary Dyskinesia. Pediatr Pulmonol. 2019 Sep.
- Erica L. Macke, Margot A. Cousin, Bret Bostwick, Tina Dieber, Mike Field, Christian Gillissen, Anna Hackett, Marte Gjøl Haug, Vera Kalscheuer, Pilar Magoulas, Jill Mokry, Xiaofei Song, Roman Yusupov, Alban Ziegler, Pavel Pichurin, Eric W. Klee. The phenotypic spectrum of the LAS1L-associated X-linked disorder in a patient cohort. (American Society of Human Genetics, Houston, TX, 2019)
- “Craniofacial genetics” lecture for parents at the Annual Children's Craniofacial Association educational symposium. Fort Lauderdale, Florida, June 23, 2016.
- Ghaffari G, Ilagan B. J, Benke P.J, Yusupov R, Hung C, Hosseini S. A, Brenton L, Rodriguez M, Johnson B, Bodamer O. Characterization of Copy Number Variation and Loss of Heterozygosity Using High Resolution SNP MicroArray –The Miami Experience. American Society Human Genetics Meeting (San Diego), October 2014
- “Common birth defects” presentation at the 12th annual pediatric conference at Golisano Children's Hospital, Fort Myers, Florida, June 1, 2014
- “Newborn screening in 21st century” presentation at 23rd Annual Pediatric Symposium at Joe DiMaggio Children's Hospital, Hollywood, Florida, November 2012
- “Marfan syndrome” Grand rounds at HealthPark Medical Center, Fort Myers, Florida, November 28, 2012
- “Newborn screening” Grand rounds at Joe DiMaggio Children's Hospital, Hollywood, Fl, January 2011
- South Florida National Marfan Foundation Network Group presentation on Marfan syndrome. Memorial South Hospital. Hollywood, FL. February 2011
- “Sudden Death in MCADD Despite Newborn Screening: Biochemical, Clinical and Psychosocial High-Risk Factors,” Platform presentation at the 15th Annual Meeting of the American College of Medical Genetics, Phoenix, AZ, 2008
- “A Patient with Macrocephaly, Polymicrogyria, Post-Axial Polydactyly, Hydronephrosis and Spinal Anomalies,” Poster presentation at the 2nd Al Ain International Genetics Conference, United Arab Emirates, 2008
- “Somatic Reversion? A Case of Mosaic Dup in a Mother and Child,” Poster presentation at the 58th Annual Meeting of the American Society of Human Genetics, Philadelphia, PA, 2008
- Yusupov R, Finegold D, Naylor E, Sahai I, Levy H, Waisbren S. Sudden Death in MCADD Despite Newborn Screening: Biochemical, Clinical and Psychosocial High Risk Factors. Platform presentation at the 15th Annual Meeting of the American College of Medical Genetics, Phoenix, AZ, March 2008 and Poster presentation at the American Society for Inherited Metabolic Disorders Meeting, Asilomar, Pacific Grove, California, March 2008. Molecular Genetics and Metabolism, Vol 93, March, 2008; 267-268
- Yusupov R, Nelson CP, Safina N, Neilan E, Hisama F. A patient with macrocephaly, polymicrogyria, post-axial polydactyly, hydronephrosis and spinal anomalies. Poster presentation at the 2nd Al Ain International Genetics Conference, United Arab Emirates, October 2008
- Yusupov R, Roberts A, Lacro RV, Sandstrom M, Ligon AH. Somatic reversion? A case of mosaic dup(17)(p1.2p1.2) in a mother and child. Poster presentation at the 58th Annual Meeting of the American Society of Human Genetics, Philadelphia, Pennsylvania, November 2008