ChayaMuraliMD

PubMed

• The Impact of Cognitive Behavioral Therapy on Sleep Problems in Autistic Children with Co-occurring Anxiety.
  Minjee Kook, Peter Boedeker, Andrew G Gusick, Robin P Goin-Kochel, Leandra N Berry, Eric A Storch, Holly K Harris, Ariel M Lyons-Warren, Chaya Murali> ;Journal of Autism and Developmental Disorders. 2024 Apr 1
• Improving access to exome sequencing in a medically underserved population through the Texome Project.
  Blake Vuocolo, Ryan J German, Seema R Lalani, Chaya N Murali, Carlos A Bacino, Stephanie Baskin, Rebecca Littlejohn, John D Odom, Scott McLean, Carrie Schmid, Morgan N...> ;Genetics in Medicine. 2024 Feb 28
• Biallelic variation in the choline and ethanolamine transporterunderlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
  Calame, D., Wong, J., Panda, P., Nguyen, D., Leong, N., Sangermano, R., Patankar, S., Abdel-Hamid, M., AlAbdi, L., Safwat, S., Flannery, K., Dardas, Z., Fatih, J., Mur...> ;Medrxiv. 2024 Feb 13
• Psychosocial Outcomes of Pain and Pain Management in Adults with Osteogenesis Imperfecta: A Qualitative Study.
  Shepherd, W., Wiese, A., Cho, H., Rork, W., Baig, M., Kostick, K., Nguyen, D., Carter, E., , Robinson, M., Schneider, S., Lee, B., Sutton, V., Storch, E., Murali, C.> ;Journal of Clinical Psychology in Medical Settings. 2024 Jan 28
• Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
  Berardo Rinaldi, Allan Bayat, Linda G Zachariassen, Jia-Hui Sun, Yu-Han Ge, Dan Zhao, Kristine Bonde, Laura H Madsen, Ilham Abdimunim Ali Awad, Duygu Bagiran, Amal Sbe...> ;Brain. 2023 Dec 1
• A familial deletion of 10p12.1 associated with thrombocytopenia.
  Sujal Manohar, Yoel Gofin, Haley Streff, Liesbeth Vossaert, Pamela Camacho, Chaya N Murali> ;American Journal of Medical Genetics. Part A. 2024 Jan 1
• 1 citations
  Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders.
  Chaya N Murali, John R Barber, Robert McCarter, Anqing Zhang, Natalie Gallant, Kara Simpson, Naghmeh Dorrani, Greta N Wilkening, Ron D Hays, Uta Lichter-Konecki, , Lin...> ;Molecular Genetics and Metabolism. 2023 Nov 1
• 2 citations
  A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease.
  Benjamin J Landis, Lindsey R Helvaty, Gabrielle C Geddes, Jiuann-Huey Ivy Lin, Cecilia W Lo, William L Border, Stephanie Burns Wechsler, Chaya N Murali, Mahshid S Azam...> ;Journal of the American Heart Association. 2023 Sep 19
• Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy.
  Joseph T Shieh, Jesus A Tintos-Hernandez, Chaya N Murali, Monica Penon-Portmann, Marco Flores-Mendez, Adrian Santana, Joshua A Bulos, Kang Du, Lucie Dupuis, Nadirah Da...> ;HGG Advances. 2023 Oct 12
• 1 citations
  A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta.
  W Conor Rork, Alyssa G Hertz, Andrew D Wiese, Kristin M Kostick, Dianne Nguyen, Sophie C Schneider, Whitney S Shepherd, Hannah Cho, , Chaya N Murali, Brendan Lee, V Re...> ;American Journal of Medical Genetics. Part A. 2023 Sep 1
• 6 citations
  Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.
  Christina Y Miyake, Erica J Lay, Claudia Soler-Alfonso, Kevin E Glinton, Kimberly M Houck, Mustafa Tosur, Nancy E Moran, Sara B Stephens, Fernando Scaglia, Taylor S Ho...> ;Genetics in Medicine. 2023 Apr 1
• 2 citations
  A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome.
  Poornima L Tamma, Haley Streff, Chaya N Murali> ;American Journal of Medical Genetics. Part A. 2023 Jun 1
• Heterozygous Nonsense Variants in the Ferritin Heavy Chain GeneCause a Novel Pediatric Neuroferritinopathy.
  Joseph T Shieh, Jesus A Tintos-Hernández, Chaya N Murali, Monica Penon-Portmann, Marco Flores-Mendez, Adrian Santana, Joshua A Bulos, Kang Du, Lucie Dupuis, Nadirah Da...> ;Medrxiv. 2023 Jan 31
• 3 citations
  A multicenter study to evaluate pain characteristics in osteogenesis imperfecta.
  Mercedes Rodriguez Celin, Karen M Kruger, Angela Caudill, Chaya N Murali, Sandesh C S Nagamani, , Peter A Smith, Gerald F Harris> ;American Journal of Medical Genetics. Part A. 2023 Jan 1
• 1 citations
  Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias.
  Chaya N Murali, Seema R Lalani, Mahshid S Azamian, Christina Y Miyake, Hadley Stevens Smith> ;European Journal of Human Genetics. 2022 Sep 1
• 16 citations
  Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
  Paul C Marcogliese, Samantha L Deal, Jonathan Andrews, J Michael Harnish, V Hemanjani Bhavana, Hillary K Graves, Sharayu Jangam, Xi Luo, Ning Liu, Danqing Bei, Yu-Hsin...> ;Cell Reports. 2022 Mar 15
• Syndromes and birth defects in art and antiquities: New perspectives on a familiar theme.
  Angela E. Lin, Chaya N. Murali, Giovanni Neri> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2021 Jun 1
• 2 citations
  The stories behind the art-Malformations and Hindu mythology.
  Chaya N. Murali> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2021 May 13
• 4 citations
  Health-related quality of life in adults with osteogenesis imperfecta.
  Chaya N. Murali, Brady Slater, Salma Musaad, David Cuthbertson, Dianne Nguyen, Alicia Turner, Mahshid S. Azamian, Laura L. Tosi, Frank Rauch, V. Reid Sutton, Brendan L...> ;Clinical Genetics. 2021 Feb 12
• 11 citations
  TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation
  Chaya N. Murali, Claudia Soler-Alfonso, Kathleen M. Loomes, Amit A. Shah, Danielle Monteil, Carmencita D. Padilla, Fernando Scaglia, Rebecca D. Ganetzky> ;Molecular Genetics and Metabolism. 2021 Jan 14
• 1 citations
  Persistent Lactic Acidosis in an 18-month-old Girl Status Post Bone Marrow Transplant
  Chaya N. Murali, Rebecca D. Ganetzky> ;Pediatrics in Review. 2020 Oct 1
• 4 citations
  Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case report.
  Brady Slater, Kevin E. Glinton, Hongzheng Dai, Erica Lay, Lefkothea P. Karaviti, Elizabeth Mizerik, Chaya N. Murali, Seema R. Lalani, Carlos A. Bacino, Linda Z. Rossetti> ;American Journal of Medical Genetics. Part A. 2020 Sep 4
• 15 citations
  Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta.
  Chaya N. Murali, David Cuthbertson, Brady Slater, Dianne Nguyen, Alicia Turner, Gerald F. Harris, V. Reid Sutton, Brendan Lee, Frank Rauch, Francis H. Glorieux, Jean-M...> ;Genetics in Medicine. 2020 Mar 1
• 26 citations
  Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy
  Rebecca C. Ahrens-Nicklas, Christopher T. Pappas, Gerrie P. Farman, Rachel M. Mayfield, Tania M. Larrinaga, Livija Medne, Alyssa Ritter, Ian D. Krantz, Chaya Murali, K...> ;Science Advances. 2019 Sep 1
• 11 citations
  Matched Retrospective Cohort Study of Thiamine to Treat Persistent Hyperlactatemia in Pediatric Septic Shock.
  Scott L. Weiss, Bridget Blowey, Luke Keele, Rebecca D. Ganetzky, Chaya N. Murali, Julie C. Fitzgerald, Robert M. Sutton, Robert A. Berg> ;Pediatric Critical Care Medicine. 2019 Sep 1
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