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CHAYA MURALI

TitleAssistant Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
DivisionMolecular & Human Genetics
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    Collapse Biography 
    Collapse education and training
    Baylor College of MedicineMD05/2014
    Children's Hospital of Philadelphia06/2018Pediatrics and Medical Genetics
    Baylor College of Medicine06/2020Postdoctoral Clinical Research Fellowship
    Collapse awards and honors
    2020Richard King Trainee Award, American College of Medical Genetics

    Collapse Overview 
    Collapse overview
    Throughout my training and education, I have taken a special interest in the psychosocial burdens of genetic disease and ways that providers can mitigate these burdens. During medical school, I worked in outreach, executing a series of writing workshops for children and adults affected by genetic diagnoses. Since then, I have moved on to academic investigations of the psychosocial burden of genetic diagnoses. My research has included analysis of the utility of certain patient-reported outcome measures (PROMs) in osteogenesis imperfecta; assessment of psychosocial functioning in the rare disease TANGO2; and analysis of sequencing data and seeing patients for the Undiagnosed Disease Network.
    My research continues to focus on quality of life in patients and families affected by genetic conditions, and the ways in which clinicians and researchers can measure and improve quality of life. My clinical practice focuses on general pediatric genetics, and I have received specialized training in skeletal dysplasias.
    Outside of medicine, I also write personal essays. I have had essays published in several literary magazines, and my writing informs my desire to hear patients' stories.

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    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. 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. Genet Med. 2020 03; 22(3):581-589. PMID: 31772349.
      View in: PubMed
    2. 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. Am J Med Genet A. 2019 08; 179(8):1442-1450. PMID: 31111620.
      View in: PubMed
    3. 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. Am J Med Genet A. 2019 04; 179(4):655-658. PMID: 30719842.
      View in: PubMed
    4. Murali C, Fernbach SD, Potocki L. Handing the pen to the patient: reflective writing for children and families affected by genetic conditions. Am J Med Genet A. 2014 Dec; 164A(12):3021-6. PMID: 25256956.
      View in: PubMed
    5. Murali C, Lu JT, Jain M, Liu DS, Lachman R, Gibbs RA, Lee BH, Cohn D, Campeau PM. Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia. Mol Genet Metab Rep. 2014; 1:213-219. PMID: 25019053.
      View in: PubMed
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