CHAYA MURALI

TitleAssistant Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
AddressOne Baylor Plaza
Houston, TX 77030
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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 Bibliographic 
    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.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Smal N, Majdoub F, Janssens K, Reyniers E, Meuwissen MEC, Ceulemans B, Northrup H, Hill JB, Liu L, Errichiello E, Gana S, Strong A, Rohena L, Franciskovich R, Murali CN, Huybrechs A, Sulem T, Fridriksdottir R, Sulem P, Stefansson K, Bai Y, Rosenfeld JA, Lalani SR, Streff H, Undiagnosed Diseases Network, Kooy RF, Weckhuysen S. Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes. Eur J Hum Genet. 2024 Jul 04. PMID: 38965372.
      Citations:    
    2. Cho HE, Shepherd WS, Colombo GM, Wiese AD, Rork WC, Kostick KM, Nguyen D, Members of the BBDC, Murali CN, Robinson ME, Schneider SC, Qian JH, Lee B, Sutton VR, Storch EA. Resilience and coping: a qualitative analysis of cognitive and behavioral factors in adults with osteogenesis Imperfecta. Disabil Rehabil. 2024 Jun 06; 1-10. PMID: 38841844.
      Citations:    Fields:    
    3. Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch SA, Au PYB, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kort?m F, Herget T, Bierhals T, Condell A, Zeev BB, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, M?ller RS, T?mer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS, Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Lynch SA, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kort?m F, Herget T, Bierhals T, Condell A, Ben-Zeev B, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, M?ller RS, T?mer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS. Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. Brain. 2024 May 03; 147(5):1837-1855. PMID: 38038360; PMCID: PMC11068105.
      Citations:    Fields:    
    4. Harris HK, Kook M, Boedeker P, Gusick AG, Lyons-Warren AM, Goin-Kochel RP, Murali C, Berry LN, Storch EA. The Impact of Cognitive Behavioral Therapy on Sleep Problems in Autistic Children with Co-occurring Anxiety. J Autism Dev Disord. 2024 Apr 01. PMID: 38557905.
      Citations:    Fields:    
    5. Vuocolo B, German RJ, Lalani SR, Murali CN, Bacino CA, Baskin S, Littlejohn R, Odom JD, McLean S, Schmid C, Nutter M, Stuebben M, Magness E, Juarez O, El Achi D, Mitchell B, Glinton KE, Robak L, Nagamani SC, Saba L, Ritenour A, Zhang L, Streff H, Chan K, Kemere KJ, Carter K, Texome Project, Owen N, Vossaert L, Liu P, Bellen H, Wangler M, Vuocolo B, German RJ, Lalani SR, Murali CN, Bacino CA, Baskin S, Littlejohn R, Odom JD, McLean S, Schmid C, Nutter M, Stuebben M, Magness E, Juarez O, El Achi D, Mitchell B, Glinton KE, Robak L, Nagamani SCS, Ritenour A, Zhang L, Streff H, Chan K, Kemere KJ, Carter K, Owen N, Vossaert L, Liu P, Bellen H, Wangler MF. Improving access to exome sequencing in a medically underserved population through the Texome Project. Genet Med. 2024 06; 26(6):101102. PMID: 38431799; PMCID: PMC11161315.
      Citations:    Fields:    Translation:Humans
    6. Calame DG, Wong JH, Panda P, Nguyen DT, Leong NCP, Sangermano R, Patankar SG, Abdel-Hamid M, AlAbdi L, Safwat S, Flannery KP, Dardas Z, Fatih JM, Murali C, Kannan V, Lotze TE, Herman I, Ammouri F, Rezich B, Efthymiou S, Alavi S, Murphy D, Firoozfar Z, Nasab ME, Bahreini A, Ghasemi M, Haridy NA, Goldouzi HR, Eghbal F, Karimiani EG, Srinivasan VM, Gowda VK, Du H, Jhangiani SN, Coban-Akdemir Z, Marafi D, Rodan L, Isikay S, Rosenfeld JA, Ramanathan S, Staton M, Clark RD, Wenman C, Loughlin S, Saad R, Ashraf T, Male A, Tadros S, Boostani R, Abdel-Salam GMH, Zaki M, Abdalla E, Manzini MC, Pehlivan D, Posey JE, Gibbs RA, Houlden H, Alkuraya FS, Bujakowska K, Maroofian R, Lupski JR, Nguyen LN. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders. medRxiv. 2024 Feb 13. PMID: 38405817; PMCID: PMC10888986.
      Citations:    
    7. Shepherd WS, Wiese AD, Cho HE, Rork WC, Baig MU, Kostick KM, Nguyen D, Carter EM, Members of the BBDC, Murali CN, Robinson ME, Schneider SC, Lee B, Sutton VR, Storch EA. Psychosocial Outcomes of Pain and Pain Management in Adults with Osteogenesis Imperfecta: A Qualitative Study. J Clin Psychol Med Settings. 2024 Jan 28. PMID: 38281305.
      Citations:    Fields:    
    8. Manohar S, Gofin Y, Streff H, Vossaert L, Camacho P, Murali CN. A familial deletion of 10p12.1 associated with thrombocytopenia. Am J Med Genet A. 2024 Jan; 194(1):77-81. PMID: 37746810.
      Citations:    Fields:    Translation:Humans
    9. Murali CN, Barber JR, McCarter R, Zhang A, Gallant N, Simpson K, Dorrani N, Wilkening GN, Hays RD, Lichter-Konecki U, Members of the Urea Cycle Disorders Consortium, Burrage LC, Nagamani SCS. Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders. Mol Genet Metab. 2023 11; 140(3):107696. PMID: 37690181; PMCID: PMC10866211.
      Citations:    Fields:    Translation:Humans
    10. Landis BJ, Helvaty LR, Geddes GC, Lin JI, Yatsenko SA, Lo CW, Border WL, Wechsler SB, Murali CN, Azamian MS, Lalani SR, Hinton RB, Garg V, McBride KL, Hodge JC, Ware SM. A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease. J Am Heart Assoc. 2023 09 19; 12(18):e029340. PMID: 37681527; PMCID: PMC10547279.
      Citations: 1     Fields:    Translation:Humans
    11. Shieh JT, Tintos-Hernandez JA, Murali CN, Penon-Portmann M, Flores-Mendez M, Santana A, Bulos JA, Du K, Dupuis L, Damseh N, Mendoza-Londo?o R, Berera C, Lee JC, Phillips JJ, Alves CAPF, Dmochowski IJ, Ortiz-Gonz?lez XR. Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy. HGG Adv. 2023 Oct 12; 4(4):100236. PMID: 37660254; PMCID: PMC10510067.
      Citations:    
    12. Rork WC, Hertz AG, Wiese AD, Kostick KM, Nguyen D, Schneider SC, Shepherd WS, Cho H, Members of the BBDC, Murali CN, Lee B, Sutton VR, Storch EA. A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta. Am J Med Genet A. 2023 09; 191(9):2267-2275. PMID: 37317786; PMCID: PMC10525007.
      Citations: 1     Fields:    Translation:Humans
    13. Tamma PL, Streff H, Murali CN. A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome. Am J Med Genet A. 2023 06; 191(6):1576-1580. PMID: 36843287.
      Citations:    Fields:    Translation:Humans
    14. Shieh JT, Tintos-Hern?ndez JA, Murali CN, Penon-Portmann M, Flores-Mendez M, Santana A, Bulos JA, Du K, Dupuis L, Damseh N, Mendoza-Londo?o R, Berera C, Lee JC, Phillips JJ, Alves CAPF, Dmochowski IJ, Ortiz-Gonz?lez XR. Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy. medRxiv. 2023 Jan 31. PMID: 36778397; PMCID: PMC9915813.
      Citations:    
    15. Miyake CY, Lay EJ, Soler-Alfonso C, Glinton KE, Houck KM, Tosur M, Moran NE, Stephens SB, Scaglia F, Howard TS, Kim JJ, Pham TD, Valdes SO, Li N, Murali CN, Zhang L, Kava M, Yim D, Beach C, Webster G, Liberman L, Janson CM, Kannankeril PJ, Baxter S, Singer-Berk M, Wood J, Mackenzie SJ, Sacher M, Ghaloul-Gonzalez L, Pedroza C, Morris SA, Ehsan SA, Azamian MS, Lalani SR. Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients. Genet Med. 2023 04; 25(4):100352. PMID: 36473599; PMCID: PMC10306319.
      Citations: 3     Fields:    Translation:Humans
    16. Rodriguez Celin M, Kruger KM, Caudill A, Murali CN, Nagamani SCS, Smith PA, Harris GF, Members of the Brittle Bone Disorders Consortium (BBDC). A multicenter study to evaluate pain characteristics in osteogenesis imperfecta. Am J Med Genet A. 2023 Jan; 191(1):160-172. PMID: 36271817; PMCID: PMC10399129.
      Citations:    Fields:    Translation:Humans
    17. Murali CN, Lalani SR, Azamian MS, Miyake CY, Smith HS. Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias. Eur J Hum Genet. 2022 09; 30(9):1044-1050. PMID: 35691983; PMCID: PMC9436934.
      Citations:    Fields:    
    18. Marcogliese PC, Deal SL, Andrews J, Harnish JM, Bhavana VH, Graves HK, Jangam S, Luo X, Liu N, Bei D, Chao YH, Hull B, Lee PT, Pan H, Bhadane P, Huang MC, Longley CM, Chao HT, Chung HL, Haelterman NA, Kanca O, Manivannan SN, Rossetti LZ, German RJ, Gerard A, Schwaibold EMC, Guerrini R, Vetro A, England E, Murali CN, Barakat TS, van Dooren MF, Wilke M, van Slegtenhorst M, Sabatier I, Brownstein CA, Madden JA, Agrawal PB, Brugger M, Leiz S, Delanne J, Sukarova-Angelovska E, Trajkova S, Rosenhahn E, Strehlow V, Platzer K, Pavinato L, Rosenfeld JA, Marom R, Wangler MF, Yamamoto S, Fehr S, Lesca G, Chatron N, Keren B, Courtin T, Perrin L, Roser T, Mau-Them FT, Keller R, Brusco A. Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. Cell Rep. 2022 03 15; 38(11):110517. PMID: 35294868; PMCID: PMC8983390.
      Citations: 2     Fields:    Translation:HumansAnimals
    19. Lin AE, Murali CN, Neri G. Syndromes and birth defects in art and antiquities: New perspectives on a familiar theme. Am J Med Genet C Semin Med Genet. 2021 06; 187(2):107-110. PMID: 34050599.
      Citations:    Fields:    Translation:Humans
    20. Murali CN. The stories behind the art-Malformations and Hindu mythology. Am J Med Genet C Semin Med Genet. 2021 06; 187(2):261-264. PMID: 33982865.
      Citations:    Fields:    Translation:Humans
    21. Murali CN, Slater B, Musaad S, Cuthbertson D, Nguyen D, Turner A, Azamian M, Tosi L, Rauch F, Sutton VR, Lee B, Members of the BBD Consortium, Nagamani SCS. Health-related quality of life in adults with osteogenesis imperfecta. Clin Genet. 2021 06; 99(6):772-779. PMID: 33580568; PMCID: PMC8096695.
      Citations:    Fields:    Translation:Humans
    22. Murali CN, Soler-Alfonso C, Loomes KM, Shah AA, Monteil D, Padilla CD, Scaglia F, Ganetzky R. TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation. Mol Genet Metab. 2021 02; 132(2):146-153. PMID: 33485800; PMCID: PMC7903488.
      Citations: 2     Fields:    Translation:HumansCells
    23. Murali CN, Ganetzky R. Persistent Lactic Acidosis in an 18-month-old Girl Status Post Bone Marrow Transplant. Pediatr Rev. 2020 Oct; 41(Suppl 1):S20-S22. PMID: 33004573.
      Citations: 1     Fields:    Translation:Humans
    24. Slater B, Glinton K, Dai H, Lay E, Karaviti L, Mizerik E, Murali CN, Lalani SR, Bacino CA, Rossetti LZ. Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case report. Am J Med Genet A. 2020 11; 182(11):2751-2754. PMID: 32885560.
      Citations: 2     Fields:    Translation:Humans
    25. Murali CN, Cuthbertson D, Slater B, Nguyen D, Turner A, Harris G, Sutton VR, Lee B, Members of the BBD Consortium, 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; PMCID: PMC7060104.
      Citations: 6     Fields:    Translation:Humans
    26. Ahrens-Nicklas RC, Pappas CT, Farman GP, Mayfield RM, Larrinaga TM, Medne L, Ritter A, Krantz ID, Murali C, Lin KY, Berger JH, Yum SW, Carreon CK, Gregorio CC. Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy. Sci Adv. 2019 09; 5(9):eaax2066. PMID: 31517052; PMCID: PMC6726455.
      Citations: 14     Fields:    Translation:HumansAnimalsCells
    27. Weiss SL, Blowey B, Keele L, Ganetzky R, Murali CN, Fitzgerald JC, Sutton RM, Berg RA. Matched Retrospective Cohort Study of Thiamine to Treat Persistent Hyperlactatemia in Pediatric Septic Shock. Pediatr Crit Care Med. 2019 09; 20(9):e452-e456. PMID: 31274776; PMCID: PMC6726577.
      Citations: 6     Fields:    Translation:Humans
    28. 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; PMCID: PMC6959001.
      Citations:    Fields:    Translation:Humans
    29. Edwards JJ, Murali C, Pogoriler J, Frank DB, Handler SS, Deardorff MA, Hopper RK. Histopathologic and Genetic Features of Alveolar Capillary Dysplasia with Atypical Late Presentation and Prolonged Survival. J Pediatr. 2019 07; 210:214-219.e2. PMID: 30853201; PMCID: PMC6592752.
      Citations: 9     Fields:    Translation:Humans
    30. 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; PMCID: PMC6924566.
      Citations: 3     Fields:    Translation:Humans
    31. Murali CN, Keena B, Zackai EH. Robinow syndrome: a diagnosis at the fingertips. Clin Dysmorphol. 2018 Oct; 27(4):135-137. PMID: 29864040; PMCID: PMC6126946.
      Citations: 2     Fields:    Translation:Humans
    32. 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.
      Citations: 1     Fields:    Translation:Humans
    33. 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; PMCID: PMC4088274.
      Citations: 8     
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