Research map: Artificial intelligence in pediatric medical genetics and genomics

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Papers in this map

  1. Highly accurate protein structure prediction with AlphaFold · John Jumper · 2021 · 47614 citations · Cited by this paper
  2. Advanced therapies in management of pediatric inflammatory bowel disease · 2026 · Related
  3. Accurate proteome-wide missense variant effect prediction with AlphaMissense · Jun Cheng · 2023 · 2246 citations · Cited by this paper
  4. Delirium screening tools in the pediatric ICU: a useful tool · 2026 · Related
  5. A universal SNP and small-indel variant caller using deep neural networks · Ryan E. Poplin · 2018 · 2005 citations · Cited by this paper
  6. Routine daily chest radiographs in pediatric critical care: necessary standard or unwarranted practice? · 2026 · Related
  7. Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation · Michelle M. Clark · 2019 · 307 citations · Cited by this paper
  8. Childhood sleep disorders: practical management for the pediatrician · 2026 · Related
  9. Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting · John E. Gorzynski · 2022 · 229 citations · Cited by this paper
  10. Pediatric tracheostomy-associated respiratory infections: an evolving paradigm · 2026 · Related
  11. The 2019 US medical genetics workforce: a focus on clinical genetics · Brittany Denise Jenkins · 2021 · 176 citations · Cited by this paper
  12. Artificial intelligence meets point-of-care ultrasound: implications for pediatric emergency and critical care · 2026 · Related
  13. Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases · Francisco M. De La Vega · 2021 · 176 citations · Cited by this paper
  14. Growing bromance between infectious diseases and artificial intelligence: for better or for worse · 2026 · Related
  15. AI, Health, and Health Care Today and Tomorrow · Derek C. Angus · 2025 · 171 citations · Cited by this paper
  16. Ventilator management on extracorporeal membrane oxygenation: considerations for open lung strategy · 2026 · Related
  17. Clinical Genomic Database · Benjamin D. Solomon · 2013 · 150 citations · Cited by this paper
  18. Disparate language and model effects on AI-based translation and recognition of genetic conditions · 2026 · Related
  19. Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey · Fatoumata Faye · 2024 · 143 citations · Cited by this paper
  20. Efficient healthcare with large language models: optimizing clinical workflow and enhancing patient care · Satvik Tripathi · 2024 · 136 citations · Cited by this paper
  21. Hereditary Cancer Risk Using a Genetic Chatbot Before Routine Care Visits · Shivani B. Nazareth · 2021 · 87 citations · Cited by this paper
  22. Reliability of LLMs as medical assistants for the general public: a randomized preregistered study · Andrew M. Bean · 2026 · 83 citations · Cited by this paper
  23. Genetics workforce: distribution of genetics services and challenges to health care in California · Monica Penon‐Portmann · 2019 · 81 citations · Cited by this paper
  24. Applications of artificial intelligence in clinical laboratory genomics · Swaroop Aradhya · 2023 · 58 citations · Cited by this paper
  25. Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics · Sebastian Köhler · 2019 · 57 citations · Cited by this paper
  26. Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report · Lance H. Rodan · 2025 · 56 citations · Cited by this paper
  27. An agentic system for rare disease diagnosis with traceable reasoning · Weike Zhao · 2026 · 49 citations · Cited by this paper
  28. Performance of a large language model on the reasoning tasks of a physician · Peter G. Brodeur · 2026 · 47 citations · Cited by this paper
  29. Changes in Clinician Time Expenditure and Visit Quantity With Adoption of Artificial Intelligence–Powered Scribes · Lisa S. Rotenstein · 2026 · 45 citations · Cited by this paper
  30. A scoping review of artificial intelligence applications in clinical trial risk assessment · Douglas Teodoro · 2025 · 43 citations · Cited by this paper
  31. AI-Driven Drug Discovery for Rare Diseases · Amit Gangwal · 2024 · 39 citations · Cited by this paper
  32. Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene · Nikolas Pontikos · 2025 · 31 citations · Cited by this paper
  33. Perspectives on the future of dysmorphology · Benjamin D. Solomon · 2022 · 28 citations · Cited by this paper
  34. Improving variant calling using population data and deep learning · Nae-Chyun Chen · 2023 · 27 citations · Cited by this paper
  35. Proteome-wide model for human disease genetics · Rose Orenbuch · 2025 · 27 citations · Cited by this paper
  36. The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare · Jerry E. Vockley · 2023 · 25 citations · Cited by this paper
  37. Evaluating large language models on medical, lay-language, and self-reported descriptions of genetic conditions · Kendall A. Flaharty · 2024 · 25 citations · Cited by this paper
  38. Large Language Models for Rare Disease Diagnosis at the Undiagnosed Diseases Network · Cathy Shyr · 2025 · 18 citations · Cited by this paper
  39. Adoption of Artificial Intelligence in the Health Care Sector · Thuy Dieu Nguyen · 2025 · 17 citations · Cited by this paper

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