Research map: A new era of integration of genetics and neurology

Back to the article

Papers in this map

  1. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy · Richard S. Finkel · 2017 · 2364 citations · Cited by this paper
  2. Advanced therapies in management of pediatric inflammatory bowel disease · 2026 · Related
  3. Long-read human genome sequencing and its applications · Glennis A. Logsdon · 2020 · 1357 citations · Cited by this paper
  4. Delirium screening tools in the pediatric ICU: a useful tool · 2026 · Related
  5. Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS · Jonathan S. Mill · 2022 · 942 citations · Cited by this paper
  6. Routine daily chest radiographs in pediatric critical care: necessary standard or unwarranted practice? · 2026 · Related
  7. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) · Kandamurugu Manickam · 2021 · 663 citations · Cited by this paper
  8. Childhood sleep disorders: practical management for the pediatrician · 2026 · Related
  9. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases · Michelle M. Clark · 2018 · 657 citations · Cited by this paper
  10. Pediatric tracheostomy-associated respiratory infections: an evolving paradigm · 2026 · Related
  11. Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays · John B. Moeschler · 2014 · 608 citations · Cited by this paper
  12. Artificial intelligence meets point-of-care ultrasound: implications for pediatric emergency and critical care · 2026 · Related
  13. Study of Intraventricular Cerliponase Alfa for CLN2 Disease · Angela Schulz · 2018 · 496 citations · Cited by this paper
  14. Growing bromance between infectious diseases and artificial intelligence: for better or for worse · 2026 · Related
  15. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial · Eugenio Maria Mercuri · 2021 · 269 citations · Cited by this paper
  16. Ventilator management on extracorporeal membrane oxygenation: considerations for open lung strategy · 2026 · Related
  17. Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care · David Dimmock · 2021 · 260 citations · Cited by this paper
  18. Use of extracorporeal cardiopulmonary resuscitation in pediatric cardiac arrest: lifesaving rescue · 2026 · Related
  19. Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy · Teresa Coelho · 2023 · 234 citations · Cited by this paper
  20. Artificial intelligence in pediatric endocrinology: clinical applications, governance, and future directions · 2026 · Related
  21. A Systematic Review of Approaches for Engaging Patients for Research on Rare Diseases · Laura Pence Forsythe · 2014 · 185 citations · Cited by this paper
  22. Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease · The NICUSeq Study Group · 2021 · 182 citations · Cited by this paper
  23. Patient-Focused Drug Development · Eleanor M. Perfetto · 2014 · 141 citations · Cited by this paper
  24. Genetic testing and counseling for the unexplained epilepsies: An evidence‐based practice guideline of the National Society of Genetic Counselors · Lacey A. Smith · 2022 · 133 citations · Cited by this paper
  25. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice · Andreas Brunklaus · 2020 · 101 citations · Cited by this paper
  26. Updates in the Genetic Evaluation of the Child with Global Developmental Delay or Intellectual Disability · Leigh Anne Flore · 2012 · 86 citations · Cited by this paper
  27. Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review · Stephen F. Kingsmore · 2024 · 86 citations · Cited by this paper
  28. Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study · Joseph Muenzer · 2022 · 53 citations · Cited by this paper
  29. Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study · Yu Sun · 2022 · 37 citations · Cited by this paper
  30. Integrating quality improvement into the ECHO model to improve care for children and youth with epilepsy · Sucheta M. Joshi · 2020 · 28 citations · Cited by this paper
  31. Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program · Carolina Montaño · 2022 · 27 citations · Cited by this paper
  32. Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future · Ann B. Moser · 2022 · 18 citations · Cited by this paper
  33. Gaps in Neurogenetics Education During Child Neurology Residency: Results of a National Survey · Kuntal Sen · 2022 · 14 citations · Cited by this paper
  34. Genetic Testing and Counseling in Child Neurology · Roa Sadat · 2021 · 12 citations · Cited by this paper
  35. Incidence, timing, and clinical significance of adverse immune events after gene replacement therapy: A systematic review and meta-analysis · Niccolo Maurizi · 2026 · 12 citations · Cited by this paper
  36. Neurogenetics in Child Neurology: Redefining a Discipline in the Twenty-first Century · Walter E. Kaufmann · 2016 · 11 citations · Cited by this paper
  37. Select Ethical Aspects of Next-Generation Sequencing Tests for Newborn Screening and Diagnostic Evaluation of Critically Ill Newborns · Kuntal Sen · 2021 · 8 citations · Cited by this paper
  38. Targeted Needs Assessment for a National Neurogenetics Curriculum · Rachel Gottlieb‐Smith · 2023 · 5 citations · Cited by this paper
  39. A Five-Year Review of Newborn Screening for Spinal Muscular Atrophy in the State of Utah: Lessons Learned · Kristen Nicole Wong · 2024 · 5 citations · Cited by this paper

Source: OpenAlex (CC0)