JariyaUpadiaMDFACMG

PubMed

• Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect.
  Jariya Upadia, Kea Crivelly, Grace Noh, Amy Cunningham, Caroline Cerminaro, Yuwen Li, Meredith Mckoin, Madeline Chenevert, Hans C Andersson> ;Molecular Genetics and Metabolism Reports. 2024 Mar 1
• 1 citations
  Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience.
  Jariya Upadia, Grace Noh, John J Lefante, Hans C Andersson> ;Molecular Genetics and Metabolism Reports. 2023 Dec 1
• 8 citations
  Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate p...
  Marcello Scala, Saskia B Wortmann, Namik Kaya, Menno D Stellingwerff, Angela Pistorio, Emma Glamuzina, Clara D van Karnebeek, Cristina Skrypnyk, Katarzyna Iwanicka-Pro...> ;Human Mutation. 2022 Mar 1
• 3 citations
  Genotype-phenotype correlation in IARS2-related diseases: A case report and review of literature.
  Jariya Upadia, Yuwen Li, Nicolette Walano, Stephen Deputy, Kelly Gajewski, Hans C Andersson> ;Clinical Case Reports. 2022 Feb 1
• 1 citations
  HSD10 disease in a female: A case report and review of literature.
  Jariya Upadia, Nicolette Walano, Grace S. Noh, Jiao Liu, Yuwen Li, Lindsay T. Elliott, Joaquin Wong, Jennifer A. Lee, Raymond Caylor, Hans C. Andersson> ;JIMD Reports. 2021 Sep 15
• 26 citations
  Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring
  Carine A. Halaby, Sarah P. Young, Stephanie Austin, Ela Stefanescu, Deeksha Bali, Lani K. Clinton, Brian Smith, Surekha Pendyal, Jariya Upadia, Gary R. Schooler, Alish...> ;Genetics in Medicine. 2019 Jul 2
• 6 citations
  Bone manifestations in neuronopathic Gaucher disease while receiving high-dose enzyme replacement therapy
  Lauren B. Flueckinger, Christine I. Ha, Jariya Upadia, Donald P. Frush, Priya S. Kishnani> ;Molecular Genetics and Metabolism. 2019 Feb 1
• 10 citations
  A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C.
  Jariya Upadia, Patrick R. Gonzales, T. Prescott Atkinson, Harry W. Schroeder, Nathaniel H. Robin, Natasha L. Rudy, Fady M. Mikhail> ;American Journal of Medical Genetics. Part A. 2018 Dec 1
• 12 citations
  A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome.
  Jariya Upadia, Alicia Gomes, Peter Weiser, Maria Descartes> ;Journal of Pediatric Genetics. 2018 Jun 16
• 11 citations
  Novel de novo pathogenic variant in the NR2F2 gene in a boy with congenital heart defect and dysmorphic features.
  Jariya Upadia, Patrick R. Gonzales, Nathaniel H. Robin> ;American Journal of Medical Genetics. Part A. 2018 Jun 1
• 4 citations
  A case report of chromosome 17q22‐qter trisomy with distinct clinical presentation and review of the literature
  Jariya Upadia, Joseph B. Philips, Nathaniel H. Robin, Edward J. Lose, Fady M. Mikhail> ;Clinical Case Reports. 2018 Feb 14
• 1 citations
  Foramen magnum compression in Coffin-Lowry syndrome: A case report.
  Jariya Upadia, Jerry Oakes, Austin Hamm, Anna C.E. Hurst, Nathaniel H. Robin> ;American Journal of Medical Genetics. Part A. 2017 Apr 1
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