Phoenix Children's Hospital Medical Genetics and Genomics

Topics

• Infectious Encephalopathies and Encephalitis 12
• Genomic variations and chromosomal abnormalities 9
• Genetics and Neurodevelopmental Disorders 8
• Genomics and Rare Diseases 7
• Connective tissue disorders research 5
• Hedgehog Signaling Pathway Studies 5
• Cystic Fibrosis Research Advances 4
• Genetic Syndromes and Imprinting 4
• Metabolism and Genetic Disorders 4
• Congenital heart defects research 3
• Genetic and Kidney Cyst Diseases 3
• Autism Spectrum Disorder Research 2

Most cited

1. Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.

   Journal of medical genetics · 2024 · 42 citations · Jasmine Knoll

2. Influenza-Associated Acute Necrotizing Encephalopathy in US Children.

   JAMA · 2025 · 28 citations · Derek Neilson, Jasmine Knoll

3. A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.

   The Journal of clinical investigation · 2024 · 23 citations · Theresa Grebe

4. Clinical utility of polygenic risk scores for embryo selection: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

   Genetics in medicine : official journal of the American College of Medical Genetics · 2024 · 25 citations · Theresa Grebe

5. ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.

   Brain : a journal of neurology · 2023 · 28 citations · Derek Neilson

6. PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.

   Neurology. Genetics · 2021 · 35 citations ·