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COLLEEN MACMURDO

TitleClinical Associate Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Medicine
Address2401 S 31st St
Temple, 76508
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    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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    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. Perkins A, Desai K, Trotter B, Ward R, Sprowls G, Zreik R, Macmurdo C, Tariske L, Birkemeier K. Unusual radiographic progression of tumoral calcinosis along the anterior cruciate ligament in an adolescent male. Proc (Bayl Univ Med Cent). 2025; 38(1):85-90. PMID: 39712407; PMCID: PMC11657101.
      Citations:    
    2. Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogn? B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necp?l J, Jech R, Winkelmann J, Kopru??kov? MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel CF, Lerner-Ellis J, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann APA, van der Schoot V, Brunet T, Bu?mann C, Mignot C, Zampino G, Wortmann SB, Mayr JA, Feichtinger RG, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Kr?ger E, B?zieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, K?ry S, Wang T. Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder. Ann Neurol. 2024 Sep 20. PMID: 39301775.
      Citations: 5     Fields:    
    3. Roby P, Smith Beltran G, Finch C, Malhotra S, Reiling K, Dayyat E, Birkemeier K, Raju M, Macmurdo C, Hernandez E, Sagar M. The Perfect Storm: A Case of Rapid-Onset Obesity With Hypoventilation, Hypothalamic, Autonomic Dysregulation, Neuroendocrine Tumor (ROHHADNET) With Heart Failure, Narcolepsy, and a Rare Location of a Pelvic Neuroendocrine Tumor. Cureus. 2023 Dec; 15(12):e50341. PMID: 38205461; PMCID: PMC10777333.
      Citations:    
    4. Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogn? B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necp?l J, Jech R, Winkelmann J, Kopru??kov? MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel C, Ellis JL, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann S, van der Schoot V, Brunet T, Bu?mann C, Mignot C, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Kr?ger E, B?zieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, K?ry S, Wang T. Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder. medRxiv. 2023 Jun 16. PMID: 37398376; PMCID: PMC10312857.
      Citations:    
    5. Jack CF, Birkemeier KL, Santiago JM, Macmurdo CF, Crisp MB. Magnetic resonance imaging diagnosis of a skeletal dysplasia mimicking erosive arthropathy. Pediatr Radiol. 2021 Aug; 51(9):1758-1761. PMID: 33710406.
      Citations:    
    6. V?lez-Santamar?a V, Verdura E, Macmurdo C, Planas-Serra L, Schl?ter A, Casas J, Mart?nez JJ, Casasnovas C, Si Y, Thompson SS, Maroofian R, Pujol A. Expanding the clinical and genetic spectrum of PCYT2-related disorders. Brain. 2020 09 01; 143(9):e76. PMID: 32889549.
      Citations:    
    7. Yu G, Hashim F, Macmurdo C, Hanna C. Persistent hyperkalemia in an otherwise healthy 4-month-old female: Answers. Pediatr Nephrol. 2020 11; 35(11):2099-2100. PMID: 32337639.
      Citations:    
    8. Yu G, Hashim F, Macmurdo C, Hanna C. Persistent hyperkalemia in an otherwise healthy 4-month-old female: Questions. Pediatr Nephrol. 2020 11; 35(11):2097-2098. PMID: 32337636.
      Citations:    
    9. Richter JE, Zimmermann MT, Blackburn PR, Mohammad AN, Klee EW, Pollard LM, Macmurdo CF, Atwal PS, Caulfield TR. Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II. Mol Genet Genomic Med. 2018 11; 6(6):1229-1235. PMID: 30187681; PMCID: PMC6305665.
      Citations:    
    10. Zimmermann MT, Urrutia RA, Blackburn PR, Cousin MA, Boczek NJ, Klee EW, Macmurdo C, Atwal PS. Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome. Case Rep Genet. 2017; 2017:7263780. PMID: 28163941; PMCID: PMC5253504.
      Citations:    
    11. Mirzaa GM, Campbell CD, Solovieff N, Goold C, Jansen LA, Menon S, Timms AE, Conti V, Biag JD, Adams C, Boyle EA, Collins S, Ishak G, Poliachik S, Girisha KM, Yeung KS, Chung BHY, Rahikkala E, Gunter SA, McDaniel SS, Macmurdo CF, Bernstein JA, Martin B, Leary R, Mahan S, Liu S, Weaver M, Doerschner M, Jhangiani S, Muzny DM, Boerwinkle E, Gibbs RA, Lupski JR, Shendure J, Saneto RP, Novotny EJ, Wilson CJ, Sellers WR, Morrissey M, Hevner RF, Ojemann JG, Guerrini R, Murphy LO, Winckler W, Dobyns WB. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol. 2016 07 01; 73(7):836-845. PMID: 27159400; PMCID: PMC4979321.
      Citations: 87     Fields:    Translation:HumansAnimalsCells
    12. Macmurdo CF, Wooderchak-Donahue W, Bayrak-Toydemir P, Le J, Wallenstein MB, Milla C, Teng JM, Bernstein JA, Stevenson DA. RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome. Am J Med Genet A. 2016 06; 170(6):1450-4. PMID: 26969842.
      Citations:    
    13. Atwal PS, Macmurdo C. A Case of Concurrent Miller-Dieker Syndrome (17p13.3 Deletion) and 22q11.2 Deletion Syndrome. J Pediatr Genet. 2015 Dec; 4(4):201-3. PMID: 27617133; PMCID: PMC4906526.
      Citations:    
    14. Atwal PS, Macmurdo C, Grimm PC. Haemodialysis is an effective treatment in acute metabolic decompensation of maple syrup urine disease. Mol Genet Metab Rep. 2015 Sep; 4:46-8. PMID: 26937409; PMCID: PMC4750565.
      Citations:    
    15. Arboleda VA, Lee H, Dorrani N, Zadeh N, Willis M, Macmurdo CF, Manning MA, Kwan A, Hudgins L, Barthelemy F, Miceli MC, Quintero-Rivera F, Kantarci S, Strom SP, Deignan JL, UCLA Clinical Genomics Center, Grody WW, Vilain E, Nelson SF. De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. Am J Hum Genet. 2015 Mar 05; 96(3):498-506. PMID: 25728775; PMCID: PMC4375619.
      Citations:    
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