Selected Publications

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, Chartlotte, NC 2024 Notes: :

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. ACMG Annual Clinical Genetics Meeting, Toronto, Canada 2024.

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 Oct 2023 Notes: doi: 10.1093/jalm/jfad060. Online ahead of print.

Francis Jeshira Reynoso Santos: NOVEL USP9X VARIANT ASSOCIATED WITH AMBIGUOUS GENITALIA AND ANORECTAL MALFORMATION. 44th Annual David W. Smith Workshop on Malformations and Morphogenesis August 2023.

Edward B Cook, Jessica R Priestley, Yanli Wang, Amy Goldstein, Andrew C Edmondson, Francis Jeshira Reynoso Santos: BEWARE OF BARTH SYNDROME: A CASE OF “CHERUBIC” CARDIOMYOPATHY. 44th Annual David W. Smith Workshop on Malformations and Morphogenesis August 2023.

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 August 2023.

Francis Jeshira Reynoso Santos: The prevalence and phenotypic range associated with biallelic PKDCC variants. Clin Genet July 2023.

Amanda Thomas-Wilson, John P Schacht, David Chitayat, Susan Blaser, Francis Jeshira Reynoso Santos, Kimberly Glaser, Alesky Caffo, Ingrid M Wentzensen , Lindsay B Henderson, Futao Zhang, Ying Zhu 8, Ellen Di Corleto 9, Fabricio da Silva Costa 9 10, Rebecca Vink 11 12, Ebba Alkhunaizi 3 13, Laura Russell 13, Michael F Buckley 8, Tony Roscioli 8 11 14, Elaine Maria Pereira 2, Mythily Ganapathi: Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review. Am J Med Genet A July 2023.

Tomoki T Nomakuchi, Cesar Augusto P Alves, Lauren A Beslow, Deborah Zarnow, Neera Goyal, Elaine H Zackai, Francis Jeshira Reynoso Santos : Subdural Hemorrhage as an Early Presentation in a Case of Sotos Syndrome. Neuropediatrics April 2023.

Priestley J, Campbell I, Opio PR, Ganetzky R, Reynoso FJ, Dalembert G: Patients from historically marginalized backgrouds are referred to clinical genetics at lower rates in large academic health system. ACMG Annual meeting 2023, Salt Lake City, Utah 2023.