FrancisJeshiraReynosoMDFACMG

PubMed

• 8 citations
  An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy.
  Sheena Sharma, Jennifer M. Kalish, Ethan M. Goldberg, Francis Jeshira Reynoso, Madhura Pradhan> ;Case Reports in Nephrology. 2016 Aug 29

Journal Articles

• Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size  
  Diana Le Duc, et al, Reynoso Santos FJ, Brain. 2019 Sep 1;142(9):2617-2630. doi: 10.1093/brain/awz198., 9/1/2019
• De Novo Missense Substitutions in the Gene encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder  
  Eduardo Calpena, et al ,Reynoso Santos FJ, AJHG Volume 104, Issue 4, 2019, 4/4/2019
• An atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy  
  Sharma S, Kalish JM, Goldberg EM, Reynoso FJ, Pradhan M., Case Rep Nephrol, 8/29/2016
• Glycosylation Analysis for Congenital Disorders of Glycosylation  
  Li, X., Raihan, M.A., Reynoso, F.J., and He, Curr Protoc Hum Genet., 7/1/2015
• The Multimodal Approach for the Prevention of Thromboembolic Disease After Total Joint Arthroplasty  
  AlejandroGonzález Della Valle, Francis Jeshira Reynoso, JudithBen Ar, EduardoSalvati, Seminars in Arthroplasty. Vol 20, Issue 4., 12/15/2009
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Books/Book Chapters

• Biomarkers in inborn errors of metabolism 
  Chapter: Biomarkers for congenital disorders of Glycosylation 
  Rebecca Ganetzky, Francis J Reynoso, Miao HeElsevier2016

Abstracts/Posters

• 22q dup plus, Exome sequencing reveal dual diagnoses in patients with 22q11.2 duplication and unexplained phenotypic features
  Reynoso Santos, FJ, 22q International Meeting, Croatia
• An Additional Case of PARS2-Related Disorder Presenting as Early Infantile Epileptic Encephalopathy
  Reynoso Santos FJ, Glaser Kim, Arroyo Monica, ACMG 2020, Digital, 4/17/2020
• Marshall-Smith Syndrome (MSS) in two patents of Afro-Caribbean Ancestry
  Exanthus R, Yusupov R, Reynoso Santos FJ, ACMG, Digital, 4/17/2020
• Pallister-Hall Syndrome. Rare Findings: A patient with total colonic aganglionosis and imperforate anus. Another patient with metopic suture fusion.
  Reynoso Santos FJ, Zackai E, David W. Smith Malformation & Morphogenesis Workshop, Madison, WI, 8/2014
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Lectures

• A Genetics Approach to the Child with Intellectual Disability 
  JDCH 29th Annual Pediatric Symposium, Hollywood FL - 11/18/2018
• Genetic testing 101 for the General Pediatrician 
  JDCH 29th Annual Pediatric Symposium. Hollywood, FL - 11/17/2018
• Multidisciplinary care for patients with 22q11.2 Deletion syndrome 
  South Florida Genetics Group Meeting. Miami, FL - 4/23/2018
• The 22q Multidisciplinary Clinic at Joe DiMaggio Children’s Hospital 
  22q Network of the Americas Inaugural Meeting. Philadelphia, PA - 4/21/2018
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