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Chaya N. Murali, MD
|Children’s Hospital of Philadelphia||residency||Pediatrics/Medical Genetics||2018|
|Baylor College of Medicine||medical school||Doctor of Medicine||2014|
My aim is to provide compassionate and comprehensive care to children with various chronic medical and neurodevelopmental issues that may have a genetic cause. I take a thorough approach to evaluating my patients and do my best to explain genetic concepts in ways that families can understand. My goal is to increase genetic knowledge in my patients and their families, and empower and enable them to meet families experiencing similar issues and advocate for their children.
General Genetics, Dysmorphology, and Skeletal Dysplasia
Quality of life, patient-reported outcomes, natural history, and genetics education
|American College of Medical Genetics||Member|
Member, Phi Beta Kappa
Member, Gold Humanism Honor Society
2020 Richard King Trainee Award
Murali CN, Cuthbertson D, Slater B, Nguyen D, Turner A, Harris G, Sutton VR, Lee B, Nagamani SCS. Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta. Genetics in Medicine 2020.
Murali CN, McDonald-McGinn DM, Wenger TL, McDougall C, Stroup BM, Sheppard SE, Taylor J, Bartlett SP, Bhoj EJ, Zackai EH, Santani A. Muenke syndrome: Medical and surgical comorbidities and long-term management. American Journal of Medical Genetics Part A 2019.
Murali C, Li D, Grand K, Hakonarson H, Bhoj E. Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum. American Journal of Medical Genetics Part A 2019.
Murali C, Fernbach SD, Potocki L. Handing the pen to the patient: reflective writing for children and families affected by genetic conditions. American Journal of Medical Genetics Part A 2014.