Elizabeth G. Ames

Most-cited papers

1. Symptom Prevalence and Genotype-Phenotype Correlations in Patients With TANGO2-Related Metabolic Encephalopathy and Arrhythmias (TRMEA).

   A. Powell, Elizabeth G. Ames, Erin Neil Knierbein, M. Hannibal +1 more

   2021Pediatric Neurology30 citations

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2. Differing Experiences with Breastfeeding in Residency Between Mothers and Coresidents

   Elizabeth G. Ames, Heather Burrows

   2019Breastfeeding Medicine21 citations

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3. Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI

   Elizabeth G. Ames, Rachel Fisher, M. Kleyn, Ayesha Ahmad

   2020International Journal of Neonatal Screening18 citations Open access

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4. Evaluation for genetic disease in kidney transplant candidates: A practice resource

   Elizabeth G. Ames, Prince M. Anand, M. Bekheirnia, M. Doshi +9 more

   2024American Journal of Transplantation16 citations Open access

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5. Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies

   Hannah Kortbawi, Elizabeth G. Ames, A. Pritchard, P. Devine +2 more

   2022American Journal of Medical Genetics. Part A14 citations

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6. Heart Transplantation for TANGO2- Related Metabolic Encephalopathy and Arrhythmia (TRMEA) Syndrome Associated Cardiomyopathy.

   J. Meisner, Elizabeth G. Ames, Ayesha Ahmad, Ming-Sing Si +4 more

   2020Circulation Genomic and Precision Medicine13 citations

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7. A retrospective review of outcomes in the treatment of hyperammonemia with renal replacement therapy due to inborn errors of metabolism

   Elizabeth G. Ames, K. Luckritz, Ayesha Ahmad

   2020Pediatric nephrology (Berlin, West)12 citations

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8. Multisite Retrospective Review of Outcomes in Renal Replacement Therapy for Neonates with Inborn Errors of Metabolism

   Elizabeth G. Ames, Corey Powell, Rachel M. Engen, D. Weaver +9 more

   2022Jornal de Pediatria9 citations Open access

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9. Clinical Reasoning: A 12-month-old child with hypotonia and developmental delays

   Elizabeth G. Ames, Kerri L. Neville, Nancy A McNamara, C. Keegan +1 more

   2020Neurology6 citations Open access

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10. Rare disease therapeutics: The future of medical genetics in a changing landscape.

    C. Connolly, Shane C. Quinonez, Elizabeth G. Ames

    2022Genetics in Medicine5 citations Open access

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11. A cautionary tale of pyridoxine toxicity in cystathionine beta‐synthase deficiency detected by two‐tier newborn screening highlights the need for clear pyridoxine dosing guidelines

    Elizabeth G. Ames, A. Scott, Kara B Pappas, Shawn Moloney +2 more

    2020American Journal of Medical Genetics. Part A5 citations Open access

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12. Severe Nonketotic Hyperglycinemia in Twins Caused by GLDC Variants: The Importance of Accurate Prenatal Variant Interpretation, Counseling, and VUS Disclosure

    Christopher Connolly, Brian Muchmore, M. Wagner, Z. Ammous +3 more

    2026Prenatal Diagnosis0 citations Open access

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13. Seriously different versions of mucopolysaccharidosis type VII

    Rachel Fisher, Ayesha Ahmad, Elizabeth G. Ames

    2023Molecular Genetics and Metabolism0 citations

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14. Prenatal diagnosis of non-infantile Sandhoff disease

    Rachel Fisher, Elizabeth G. Ames, Ayesha Ahmad

    20200 citations

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