Selected Publications

Riley Kessler MD, Morgan McManus MS, Sarah Schmidt MD, Sara Reis Teixeira MD, PhD, rancis Jeshira Reynoso Santos MD, Sonika Agarwal MBBS, MD: A Novel MACF1 Gene Mutation: Expanding the Fetal and Neonatal Phenotype. Pediatric Neurology. Elsevier, Volume 164: 78-80, March 2025.

Reynoso Santos JF: Jessie Reynoso Santos, from the Dominican Republic to the United States to become a geneticist. Medscape Magazine (Spanish version) Nov 2024 Notes: https://espanol.medscape.com/verarticulo/5913254

Wongkittichote P, Cook EB, Reynoso Santos FJ, Ahrens-Nicklas RC, Hong X,Ganetzky RD: Low Arginine Suggesting the Diagnosis of Mitochondrial Cardiomyopathy. J Appl Lab Med 9(2): 404-407, Mar 2024.

Nomakuchi TT, Alves CAP, Beslow LA, Zarnow D, Goyal N, Zackai EH, Reynoso Santos FJ : Subdural Hemorrhage as an Early Presentation in a Case of Sotos Syndrome. Neuropediatrics 55(1): 71-74, Feb 2024.

Reynoso Santos FJ, Keller K, Mellor T , Julca D: A CASE OF SAH HYDROLASE DEFICIENCY CONFIRMED BY GLOBAL MAPS AND EXPANSION OF THE PHENOTYPE. Society of Inherited Metabolic Disorders Meeting, Charlotte, NC 2024 Notes: Poster.

Bedoukian E, Reichert S, Dechene E, Krantz I, Spinner N, Wild T, McMannus M, Dulik M, Wood K, Marchese M, Heck A, Hershey J,Conlin L, Reynoso Santos FJ, Mulchandani S: Development, Implementation, and Preliminary Results of Rapid Targeted Genomic Analysis in the Newborn Period. American College of Medical Genetics Annual Meeting, Toronto, Canada 2024 Notes: Poster.

Kim NG, Reynoso Santos FJ: Persistent Hyperchloremic Metabolic Acidosis (MA) in Urea Cycle Defects (UCDs) – exploring the phenomenon and expanding the phenotype Society for the Study of Inborn Errors of Metabolism, Porto, Portugal 2024 Notes: Poster.

Reynoso Santos FJ, Kim NG: Exploring the Clinical Spectrum of Holocarboxylase Synthase Deficiency: Insights from Three Case Studies from a single institution. Society for the Study of Inborn Errors of Metabolism, Porto, Portugal 2024 Notes: Poster.

Kelly E Regan-Fendt, Alyssa L Rippert, Livija Medne, Cara M Skraban, Jeshua DeJesse, Christopher Gray, Sara L Reichert, Nicholas P Staropoli, Francis Jeshira Reynoso Santos, Ian D Krantz, Jill R Murrell, Kosuke Izumi: Retrospective identification of patients with SRRM2-related neurodevelopmental disorder in a single tertiary children's hospital. Am J Med Genet A 191(8): 2149-2155, Aug 2023.

Alistair T Pagnamenta, Rebecca S Belles, Bonnie Anne Salbert, Ingrid M Wentzensen, Maria J Guillen Sacoto, Francis Jeshira Reynoso Santos, Alesky Caffo, Matteo Ferla, Benito Banos-Pinero, Karolina Pawliczak, Mina Makvand, Hossein Najmabadi; Genomics England Research Consortium; Reza Maroofian, Tracy Lester, Ana Lucia Yanez-Felix, Camilo E Villarroel-Cortes, Fan Xia, Khowla Al Fayez, Amal Al Hashem, Deborah Shears, Melita Irving, Amaka C Offiah, Ariana Kariminejad, Jenny C Taylor: The prevalence and phenotypic range associated with biallelic PKDCC variants. Clin Genet 104(1): 121-126, Jul 2023.