RomanYusupovMD

PubMed

• H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.
  Nicholas Borja, Paulo Borjas-Mendoza, Stephanie Bivona, LéShon Peart, Joanna Gonzalez, Brittney Keira Johnson, Shengru Guo, Roman Yusupov, , Guney Bademci, Mustafa Tekin> ;American Journal of Medical Genetics. Part A. 2023 Jul 1
• 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, Emily Bryant, Laura Schultz-Rogers, Wendy K Chung, Stephanie Sacharow, Ladonna L...> ;American Journal of Medical Genetics. Part A. 2022 Sep 1
• 10 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, Ana P G Silva, Hane Lee, Emilie D Douine, Maria G Otero, Andrew Choi, Katheryn Grand, Ingri...> ;Genetics in Medicine. 2020 May 1
• 2 citations
  Correction: 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, Ana P G Silva, Hane Lee, Emilie D Douine, Maria G Otero, Andrew Choi, Katheryn Grand, Ingri...> ;Genetics in Medicine. 2020 Apr 1
• 2 citations
  Cytoplasmic "ciliary inclusions" in isolation are not sufficient for the diagnosis of primary ciliary dyskinesia.
  Timothy J. Vece, Scott D. Sagel, Maimoona A. Zariwala, Kelli M. Sullivan, Kimberlie A. Burns, Susan K. Dutcher, Roman Yusupov, Margaret W. Leigh, Michael R. Knowles> ;Pediatric Pulmonology. 2020 Jan 1
• 21 citations
  Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray
  Yao Shan Fan, Xiaomei Ouyang, Jinghong Peng, Stephanie Sacharow, Mustafa Tekin, Deborah Barbouth, Olaf Bodamer, Roman Yusupov, Christina Navarrete, Ana H. Heller, Sérg...> ;Molecular Cytogenetics. 2013 Sep 20
• 24 citations
  Potocki-Lupski syndrome: an inherited dup(17)(p11.2p11.2) with hypoplastic left heart.
  Roman Yusupov, Amy E. Roberts, Ronald V. Lacro, Mary Sandstrom, Azra H. Ligon> ;American Journal of Medical Genetics. Part A. 2011 Feb 1
• 39 citations
  Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening
  Roman Yusupov, David N. Finegold, Edwin W. Naylor, Inderneel Sahai, Susan E. Waisbren, Harvey L. Levy> ;Molecular Genetics and Metabolism. 2010 Sep 1
• 253 citations
  Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders
  David T. Miller, Yiping Shen, Lauren A. Weiss, Joshua M. Korn, Irina Anselm, Carolyn Bridgemohan, Gerald F. Cox, Hope Dickinson, Jennifer K. Gentile, David J. Harris, ...> ;Journal of Medical Genetics. 2009 Apr 1
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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
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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