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Carol Macmillan

TitleAssociate Professor
InstitutionUniversity of Chicago
AddressChicago IL 60637
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    Collapse Overview 
    Collapse overview
    Dr Carol Macmillan is an academic Pediatric Neurologist with clinical interests in the neurologic care of medically complex children, developmental delay and autism.

    Collapse Biography 
    Collapse education and training
    McGill University, Montreal, CanadaPostdoctoral fellowship06/1996Mitochondrial genetics
    McGill University, Montreal, CanadaResidency06/1993Pediatric Neurology
    McGill University, Montreal, CanadaResidency06/1990Pediatrics
    McMaster University, Hamilton, CanadaM.D.05/1987Medicine
    Concordia University, Montreal, CanadaM.A.09/1984Experimental Psychology
    McGill University, Montreal, CanadaB.A.05/1982Psychology

    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.
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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. von der Lippe C, Tveten K, Prescott TE, Burke KB, Sansbury FH, Fry AE, Lim D, Jolles S, Evans J, Osio D, Macmillan C, Bruno I, Faletra F, Climent S, Cohen ASA, Engleman K, Zhou D, Amudhavalli SM, Haug MG, Thorstensen WM, Holla ØL, Busk ØL, Baptista J, Urreitzi R, Hoenicka J, Palau F, Jeanne M, Bonnet-Brilhault F, Lévy J, Drunat S, Derive N. Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin. Am J Med Genet A. 2022 01; 188(1):272-282. PMID: 34515416.
      Citations: 1     Fields:    Translation:HumansCells
    2. Schottlaender LV, Abeti R, Jaunmuktane Z, Macmillan C, Chelban V, O'Callaghan B, McKinley J, Maroofian R, Efthymiou S, Athanasiou-Fragkouli A, Forbes R, Soutar MPM, Livingston JH, Kalmar B, Swayne O, Hotton G, SYNAPS Study Group, Pittman A, de Grandis M, Richard-Loendt A, Launchbury F, Althonayan J, McDonnell G, Carr A, Khan S, Beetz C, Begtrup A, Torti E, Greensmith L, Giunti P, Morrison PJ, Brandner S, Aurrand-Lions M, Houlden H, Mendes de Oliveira JR, Bisgin A, Tug Bozdogan S. Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification. Am J Hum Genet. 2020 03 05; 106(3):412-421. PMID: 32142645; PMCID: PMC7058839.
      Citations: 34     Fields:    Translation:HumansAnimals
    3. Bojanek EK, Mosconi MW, Guter S, Macmillan C, Cook EH, Betancur C. Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study. Am J Med Genet A. 2020 01; 182(1):213-218. PMID: 31729143; PMCID: PMC10355165.
      Citations: 7     Fields:    Translation:Humans
    4. Sagar A, Pinto D, Najjar F, Guter SJ, Macmillan C, Cook EH. De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome. Am J Med Genet A. 2017 Jun; 173(6):1656-1662. PMID: 28407363; PMCID: PMC5444998.
      Citations: 5     Fields:    Translation:HumansCells
    5. Davis LK, Maltman N, Mosconi MW, Macmillan C, Schmitt L, Moore K, Francis SM, Jacob S, Sweeney JA, Cook EH. Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis. Am J Med Genet A. 2012 Jul; 158A(7):1654-61. PMID: 22678932; PMCID: PMC3707293.
      Citations: 27     Fields:    Translation:Humans
    6. Mosconi MW, Kay M, D'Cruz AM, Guter S, Kapur K, Macmillan C, Stanford LD, Sweeney JA. Neurobehavioral abnormalities in first-degree relatives of individuals with autism. Arch Gen Psychiatry. 2010 Aug; 67(8):830-40. PMID: 20679591; PMCID: PMC3145411.
      Citations: 38     Fields:    Translation:Humans
    7. Singla M, John E, Hidalgo G, Grewal D, Macmillan C. Moyamoya vasculopathy in a child after hemolytic uremic syndrome: a possible etiopathogenesis. Neuropediatrics. 2008 Apr; 39(2):128-30. PMID: 18671191.
      Citations: 3     Fields:    Translation:Humans
    8. Miller LJ, Bishop JR, Fischer JH, Geller SE, Macmillan C. Balancing risks: dosing strategies for antidepressants near the end of pregnancy. J Clin Psychiatry. 2008 Feb; 69(2):323-4. PMID: 18363456.
      Citations: 2     Fields:    Translation:Humans
    9. Llorente A, Brouwers P, Thompson B, Cheng I, Macmillan C, Larussa P, Mofenson L, Blasini I, Chase C. Effects of polymorphisms of chemokine receptors on neurodevelopment and the onset of encephalopathy in children with perinatal HIV-1 infection. Appl Neuropsychol. 2006; 13(3):180-9. PMID: 17361671.
      Citations:    Fields:    Translation:HumansCellsPHPublic Health
    10. Sweeney JA, Takarae Y, Macmillan C, Luna B, Minshew NJ. Eye movements in neurodevelopmental disorders. Curr Opin Neurol. 2004 Feb; 17(1):37-42. PMID: 15090875.
      Citations: 32     Fields:    Translation:Humans
    11. Macmillan C, Magder LS, Brouwers P, Chase C, Hittelman J, Lasky T, Malee K, Mellins CA, Velez-Borras J, Macmillan C, Magder LS, Brouwers P, Chase C, Hittelman J, Lasky T, Malee K, Mellins CA, Velez-Borras J. Head growth and neurodevelopment of infants born to HIV-1-infected drug-using women. Neurology. 2001 Oct 23; 57(8):1402-11. PMID: 11673580.
      Citations: 8     Fields:    Translation:HumansCellsPHPublic Health
    12. Smith R, Malee K, Charurat M, Magder L, Mellins C, Macmillan C, Hittleman J, Lasky T, Llorente A, Moye J. Timing of perinatal human immunodeficiency virus type 1 infection and rate of neurodevelopment. The Women and Infant Transmission Study Group. Pediatr Infect Dis J. 2000 Sep; 19(9):862-71. PMID: 11001110.
      Citations: 18     Fields:    Translation:HumansCellsPHPublic Health
    13. Macmillan C. Genetics and developmental delay. Semin Pediatr Neurol. 1998 Mar; 5(1):39-44. PMID: 9548640.
      Citations:    Fields:    Translation:HumansCells
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