RomanYusupovMD

PubMed

• 1 citations
  H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.
  Nicholas Borja, Paulo Borjas-Mendoza, Stephanie Bivona, LéShon Peart, Joanna Gonzalez
  American Journal of Medical Genetics. Part A. 2023-07-01
• 4 citations
  Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
  Lauren O'Grady, Samantha A Schrier Vergano, Trevor L Hoffman, Dean Sarco, Sara Cherny
  American Journal of Medical Genetics. Part A. 2022-09-01
• 9 citations
  GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
  Christine Shieh, Natasha Jones, Brigitte Vanle, Margaret Au, Alden Y Huang
  Genetics in Medicine. 2020-05-01

Journal Articles

• Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening  
  Yusupov R, Finegold DN, Naylor EW, Sahai I, Waisbren S, Levy HL, Mol Genet Metab, 1/1/2010
• Microdeletion/duplication at 15q132q133 among individuals with features of autism and other neuropsychiatirc disorders  
  Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Po..., J Med Genet, 1/1/2009

Abstracts/Posters

• Characterization of Copy Number Variation and Loss of Heterozygosity Using high resolution SNP MicroArray –The Miami Experience
  Ghaffari G, Ilagan B. J, Benke P.J, Yusupov R, Hung C, Hosseini S. A, Brenton L, Rodriguez M, Johnson B, Bodamer O, American Society Human Genetics Meeting, San Diego, 1/1/2014
• Newborn screening in 21st century
  Yusupov R, 23rd Annual Pediatric Symposium, Joe DiMaggio Children's Hospital, Hollywood, Florida, 1/1/2012
• Newborn screening
  Yusupov R, Grand rounds, Joe DiMaggio Children's Hospital, Hollywood, FL, 1/1/2011
• Marfan syndrome
  Yusupov R, South Florida National Marfan Foundation Network Group presentation, Memorial South Hospital, Hollywood, FL, 1/1/2011
• Sudden Death in MCADD Despite Newborn Screening: Biochemical, Clinical and Psychosocial High Risk Factors
  Yusupov R, Finegold D, Naylor E, Sahai I, Levy H, Waisbren S, Molecular Genetics and Metabolism, 15th Annual Meeting of the American College of Medical Genetics/American Society for Inherited Metabolic Disorders Meeting, Phoenix, AZ, 2008; Asilomar, Pacific Grove, California, 2008, 1/1/2008
• A patient with macrocephaly, polymicrogyria, post-axial polydactyly, hydronephrosis and spinal anomalies
  Yusupov R, Nelson CP, Safina N, Neilan E, Hisama F, 2nd Al Ain International Genetics Conference, United Arab Emirates, 1/1/2008
• Somatic reversion? A case of mosaic dup(17)(p1.2p1.2) in a mother and child
  Yusupov R, Roberts A, Lacro RV, Sandstrom M, Ligon AH, 58th Annual Meeting of the American Society of Human Genetics, Philadelphia, Pennsylvania, 1/1/2008
• Marfan syndrome
  Yusupov R, Grand rounds, HealthPark Medical Center, Fort Myers, Florida, 2012; Joe DiMaggio Children's Hospital, 2015, 1/15/2015
• Common birth defects
  Yusupov R, 12th Annual Pediatric Conference, Golisano Children's Hospital, Fort Myers, Florida, 1/1./2014
• Lactic acidosis in a newborn
  Yusupov R, Grand rounds, Joe DiMaggio Children's Hospital, 1/21/2015
• Join now to see all

Lectures

• Common birth defects 
  1/1/2014
• Common genetic disorders involving the teeth 
  Nova Southeastern University College of Dental Medicine - 1/15/2015
• Craniofacial genetics 
  Fort Lauderdale, Florida - 1/23/2016

Other

• Marfan Syndrome 
  Yusupov R, TV interview
  http://www.local10.com/thats-life/health/marfan-syndrome-affects-the-bodys-connective-tissue/28026242
  1/1/2014